Mutagenetix > Incidental Mutations

Incidental Mutation 'F2404:Adgrv1'

171

Institutional Source

Beutler Lab

Gene Symbol

Adgrv1

Ensembl Gene

ENSMUSG00000069170

Gene Name

adhesion G protein-coupled receptor V1

Synonyms

Mass1, Mgr1, VLGR1, Gpr98

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

F2404 of strain feckless

Quality Score

Status

Validated

Chromosome

Chromosomal Location

81095068-81633154 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81420006 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 5016 (T5016M)

Ref Sequence

ENSEMBL: ENSMUSP00000093245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095585]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000095585
AA Change: T5016M

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000093245
Gene: ENSMUSG00000069170
AA Change: T5016M

Domain	Start	End	E-Value	Type
Calx_beta	20	116	1.53e-1	SMART
Calx_beta	132	236	1.58e-2	SMART
Calx_beta	251	362	2.33e-2	SMART
Pfam:Calx-beta	380	489	1.1e-3	PFAM
Pfam:Calx-beta	507	616	2.5e-2	PFAM
Pfam:Calx-beta	667	747	9.1e-4	PFAM
Calx_beta	764	862	1.55e-1	SMART
Calx_beta	877	980	1.07e-1	SMART
Calx_beta	994	1094	6.45e-5	SMART
Pfam:Calx-beta	1108	1208	7.4e-4	PFAM
Pfam:Laminin_G_3	1331	1492	4.4e-24	PFAM
Pfam:Calx-beta	1498	1542	6.5e-3	PFAM
Pfam:Calx-beta	1557	1662	1e-6	PFAM
Calx_beta	1706	1805	1.34e-11	SMART
Calx_beta	1846	1948	1.04e-2	SMART
Calx_beta	1962	2075	1.59e-3	SMART
Calx_beta	2103	2202	1.59e-4	SMART
Calx_beta	2218	2320	1.74e-3	SMART
Pfam:Calx-beta	2467	2539	2.1e-4	PFAM
Calx_beta	2576	2672	1.24e-6	SMART
Calx_beta	2687	2786	1.12e-1	SMART
Calx_beta	2810	2921	2.21e-2	SMART
Calx_beta	2945	3044	6.69e-12	SMART
Pfam:Calx-beta	3063	3168	1.2e-5	PFAM
Pfam:Calx-beta	3198	3252	1.2e-1	PFAM
Pfam:EPTP	3391	3434	2.8e-10	PFAM
Pfam:Calx-beta	3577	3623	6.5e-8	PFAM
Pfam:Calx-beta	3637	3737	6e-4	PFAM
Pfam:Calx-beta	3781	3872	6.9e-3	PFAM
Calx_beta	3919	4003	1.18e-2	SMART
Calx_beta	4017	4120	5.44e-2	SMART
Pfam:Calx-beta	4193	4236	2.3e-2	PFAM
Calx_beta	4251	4351	1.43e-20	SMART
Calx_beta	4384	4484	9.46e-3	SMART
Pfam:Calx-beta	4498	4608	2e-2	PFAM
Pfam:Calx-beta	4659	4729	5.1e-2	PFAM
Calx_beta	4989	5089	5.7e-6	SMART
Pfam:Calx-beta	5229	5326	1.9e-6	PFAM
Pfam:Calx-beta	5489	5592	7.2e-5	PFAM
low complexity region	5637	5648	N/A	INTRINSIC
GPS	5845	5895	9.48e-3	SMART
Pfam:7tm_2	5902	6141	2.3e-16	PFAM
low complexity region	6227	6240	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125698

SMART Domains

Protein: ENSMUSP00000120136
Gene: ENSMUSG00000069170

Domain	Start	End	E-Value	Type
Pfam:Calx-beta	1	47	2e-9	PFAM
Pfam:Calx-beta	79	180	4e-11	PFAM
Pfam:Calx-beta	194	304	9.2e-4	PFAM
Pfam:Calx-beta	354	425	2.9e-3	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 87.2%
3x: 68.2%

Validation Efficiency

89% (81/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	G	3: 40,933,878	C386G	probably damaging	Het
AC091683.1	G	A	13: 49,900,492		noncoding transcript	Het
BC005561	T	A	5: 104,520,230	W873R	possibly damaging	Homo
Epha3	A	G	16: 63,546,168	L972P	probably benign	Het
Gpm6a	G	A	8: 55,058,882	D264N	probably damaging	Het
H1fnt	T	A	15: 98,257,209	I20F	possibly damaging	Het
Pvr	A	T	7: 19,905,177	S393T	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het

Other mutations in Adgrv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Adgrv1	APN	13	81405408	critical splice acceptor site	probably null
IGL00090:Adgrv1	APN	13	81578101	missense	probably damaging	1.00
IGL00091:Adgrv1	APN	13	81578101	missense	probably damaging	1.00
IGL00332:Adgrv1	APN	13	81472877	splice site	probably benign
IGL00471:Adgrv1	APN	13	81509542	missense	probably damaging	0.99
IGL00476:Adgrv1	APN	13	81489074	missense	probably damaging	0.98
IGL00508:Adgrv1	APN	13	81506187	missense	probably damaging	1.00
IGL00727:Adgrv1	APN	13	81524684	missense	probably damaging	0.98
IGL00781:Adgrv1	APN	13	81578230	missense	probably benign	0.19
IGL00816:Adgrv1	APN	13	81397203	missense	probably benign	0.01
IGL00844:Adgrv1	APN	13	81540119	missense	probably damaging	1.00
IGL00923:Adgrv1	APN	13	81382291	missense	probably damaging	0.99
IGL01113:Adgrv1	APN	13	81489028	missense	probably benign	0.00
IGL01143:Adgrv1	APN	13	81419351	missense	probably benign	0.00
IGL01151:Adgrv1	APN	13	81405399	missense	probably benign	0.00
IGL01153:Adgrv1	APN	13	81419128	missense	probably benign	0.01
IGL01363:Adgrv1	APN	13	81557065	missense	probably damaging	1.00
IGL01419:Adgrv1	APN	13	81557158	missense	probably damaging	0.99
IGL01545:Adgrv1	APN	13	81466184	missense	possibly damaging	0.46
IGL01701:Adgrv1	APN	13	81419631	missense	possibly damaging	0.55
IGL01796:Adgrv1	APN	13	81567342	missense	probably benign	0.01
IGL01816:Adgrv1	APN	13	81529049	missense	probably benign	0.00
IGL01871:Adgrv1	APN	13	81472394	critical splice donor site	probably null
IGL01955:Adgrv1	APN	13	81182783	missense	probably damaging	1.00
IGL01956:Adgrv1	APN	13	81446430	missense	possibly damaging	0.63
IGL01988:Adgrv1	APN	13	81557309	missense	probably damaging	0.99
IGL01990:Adgrv1	APN	13	81556996	missense	probably damaging	1.00
IGL02007:Adgrv1	APN	13	81568743	splice site	probably benign
IGL02016:Adgrv1	APN	13	81397453	missense	probably damaging	1.00
IGL02095:Adgrv1	APN	13	81579790	missense	possibly damaging	0.63
IGL02174:Adgrv1	APN	13	81427664	missense	probably benign	0.34
IGL02270:Adgrv1	APN	13	81559195	splice site	probably null
IGL02328:Adgrv1	APN	13	81578175	missense	probably damaging	1.00
IGL02350:Adgrv1	APN	13	81270855	missense	probably benign	0.00
IGL02357:Adgrv1	APN	13	81270855	missense	probably benign	0.00
IGL02373:Adgrv1	APN	13	81459713	missense	possibly damaging	0.90
IGL02402:Adgrv1	APN	13	81559424	missense	probably benign	0.18
IGL02407:Adgrv1	APN	13	81479670	missense	probably damaging	1.00
IGL02508:Adgrv1	APN	13	81435556	splice site	probably benign
IGL02603:Adgrv1	APN	13	81488952	missense	possibly damaging	0.93
IGL02648:Adgrv1	APN	13	81511619	missense	probably benign	0.35
IGL02720:Adgrv1	APN	13	81578872	missense	probably damaging	0.99
IGL02870:Adgrv1	APN	13	81563732	missense	probably benign	0.13
IGL02896:Adgrv1	APN	13	81520739	missense	probably damaging	1.00
IGL02931:Adgrv1	APN	13	81579714	missense	probably damaging	1.00
IGL02952:Adgrv1	APN	13	81433636	missense	probably benign	0.00
IGL02961:Adgrv1	APN	13	81523612	missense	probably damaging	1.00
IGL02999:Adgrv1	APN	13	81578854	missense	probably benign	0.12
IGL03067:Adgrv1	APN	13	81442480	missense	probably damaging	1.00
IGL03106:Adgrv1	APN	13	81472899	missense	probably benign	0.00
IGL03108:Adgrv1	APN	13	81559529	missense	probably damaging	1.00
IGL03119:Adgrv1	APN	13	81382373	missense	probably damaging	1.00
IGL03119:Adgrv1	APN	13	81433700	missense	probably benign	0.02
IGL03169:Adgrv1	APN	13	81503900	missense	probably damaging	1.00
IGL03186:Adgrv1	APN	13	81433618	missense	possibly damaging	0.80
IGL03196:Adgrv1	APN	13	81446478	missense	probably benign	0.02
IGL03207:Adgrv1	APN	13	81106898	splice site	probably null
IGL03343:Adgrv1	APN	13	81283388	missense	probably damaging	1.00
IGL03348:Adgrv1	APN	13	81499058	missense	possibly damaging	0.54
IGL03349:Adgrv1	APN	13	81481336	missense	probably benign	0.09
IGL03373:Adgrv1	APN	13	81563632	missense	probably damaging	0.99
IGL03381:Adgrv1	APN	13	81517967	missense	probably damaging	0.99
abetting	UTSW	13	81579560	missense	probably damaging	1.00
beatle	UTSW	13	81579594	nonsense	probably null
Escape	UTSW	13	81435705	missense	probably benign	0.02
lento	UTSW	13	81270897	missense	probably damaging	1.00
Metronome	UTSW	13	81435559	critical splice donor site	probably null
Murderous	UTSW	13	81103324	missense	possibly damaging	0.94
Nome	UTSW	13	81391767	missense	probably benign	0.00
Propulsion	UTSW	13	81475047	missense	probably benign	0.06
revulsion	UTSW	13	81595182	missense	probably damaging	1.00
Saturnv	UTSW	13	81531676	missense	probably damaging	1.00
Thrust	UTSW	13	81374256	missense	probably benign	0.01
Velocity	UTSW	13	81397354	missense	probably benign	0.00
Wilting	UTSW	13	81492501	missense	probably benign	0.02
Withering	UTSW	13	81494657	missense	probably damaging	1.00
G1patch:Adgrv1	UTSW	13	81437557	missense	probably damaging	0.99
G1patch:Adgrv1	UTSW	13	81493210	missense	probably damaging	1.00
I2288:Adgrv1	UTSW	13	81437524	missense	probably damaging	1.00
I2289:Adgrv1	UTSW	13	81437524	missense	probably damaging	1.00
PIT4377001:Adgrv1	UTSW	13	81528985	missense	probably damaging	1.00
PIT4504001:Adgrv1	UTSW	13	81559352	missense	probably damaging	0.99
R0017:Adgrv1	UTSW	13	81578946	missense	probably benign	0.13
R0017:Adgrv1	UTSW	13	81578946	missense	probably benign	0.13
R0058:Adgrv1	UTSW	13	81182672	missense	possibly damaging	0.65
R0058:Adgrv1	UTSW	13	81182672	missense	possibly damaging	0.65
R0083:Adgrv1	UTSW	13	81578404	unclassified	probably benign
R0087:Adgrv1	UTSW	13	81386951	missense	probably damaging	1.00
R0108:Adgrv1	UTSW	13	81578404	unclassified	probably benign
R0131:Adgrv1	UTSW	13	81502995	unclassified	probably benign
R0218:Adgrv1	UTSW	13	81106898	splice site	probably null
R0325:Adgrv1	UTSW	13	81540015	missense	probably damaging	1.00
R0326:Adgrv1	UTSW	13	81474993	missense	possibly damaging	0.46
R0395:Adgrv1	UTSW	13	81385953	missense	probably benign	0.00
R0441:Adgrv1	UTSW	13	81397226	nonsense	probably null
R0466:Adgrv1	UTSW	13	81566296	missense	probably benign	0.00
R0487:Adgrv1	UTSW	13	81489035	missense	probably damaging	1.00
R0501:Adgrv1	UTSW	13	81559150	missense	probably damaging	1.00
R0522:Adgrv1	UTSW	13	81528442	splice site	probably benign
R0532:Adgrv1	UTSW	13	81578896	missense	probably damaging	1.00
R0542:Adgrv1	UTSW	13	81573318	missense	probably damaging	1.00
R0681:Adgrv1	UTSW	13	81528530	missense	probably damaging	1.00
R0689:Adgrv1	UTSW	13	81475105	missense	possibly damaging	0.47
R0732:Adgrv1	UTSW	13	81503004	missense	possibly damaging	0.86
R0746:Adgrv1	UTSW	13	81570556	missense	probably benign	0.10
R0763:Adgrv1	UTSW	13	81499125	missense	probably damaging	0.98
R0846:Adgrv1	UTSW	13	81479742	nonsense	probably null
R0962:Adgrv1	UTSW	13	81405346	missense	probably benign	0.01
R1146:Adgrv1	UTSW	13	81531676	missense	probably damaging	1.00
R1146:Adgrv1	UTSW	13	81531676	missense	probably damaging	1.00
R1172:Adgrv1	UTSW	13	81557063	missense	probably damaging	0.98
R1178:Adgrv1	UTSW	13	81440037	splice site	probably benign
R1310:Adgrv1	UTSW	13	81566377	missense	probably benign	0.09
R1386:Adgrv1	UTSW	13	81528865	missense	probably benign	0.17
R1387:Adgrv1	UTSW	13	81493176	missense	possibly damaging	0.62
R1395:Adgrv1	UTSW	13	81386788	missense	probably benign	0.05
R1412:Adgrv1	UTSW	13	81095450	missense	probably damaging	1.00
R1448:Adgrv1	UTSW	13	81433513	missense	probably benign	0.08
R1470:Adgrv1	UTSW	13	81382298	missense	probably benign	0.03
R1470:Adgrv1	UTSW	13	81382298	missense	probably benign	0.03
R1485:Adgrv1	UTSW	13	81579619	missense	probably damaging	1.00
R1507:Adgrv1	UTSW	13	81472580	critical splice acceptor site	probably null
R1513:Adgrv1	UTSW	13	81556957	missense	probably damaging	1.00
R1513:Adgrv1	UTSW	13	81593048	missense	probably damaging	1.00
R1539:Adgrv1	UTSW	13	81503978	splice site	probably null
R1579:Adgrv1	UTSW	13	81563779	missense	probably damaging	1.00
R1580:Adgrv1	UTSW	13	81466160	critical splice donor site	probably null
R1611:Adgrv1	UTSW	13	81559117	missense	probably damaging	1.00
R1615:Adgrv1	UTSW	13	81424288	missense	probably benign	0.41
R1651:Adgrv1	UTSW	13	81487853	missense	probably benign	0.19
R1660:Adgrv1	UTSW	13	81476631	missense	probably benign	0.00
R1679:Adgrv1	UTSW	13	81559552	missense	probably damaging	1.00
R1709:Adgrv1	UTSW	13	81593060	missense	probably damaging	1.00
R1735:Adgrv1	UTSW	13	81487947	missense	possibly damaging	0.62
R1762:Adgrv1	UTSW	13	81506146	missense	probably benign	0.08
R1830:Adgrv1	UTSW	13	81489077	missense	possibly damaging	0.65
R1836:Adgrv1	UTSW	13	81504113	missense	probably benign	0.01
R1843:Adgrv1	UTSW	13	81544533	missense	probably damaging	1.00
R1863:Adgrv1	UTSW	13	81563566	missense	probably damaging	1.00
R1895:Adgrv1	UTSW	13	81374249	missense	probably damaging	1.00
R1907:Adgrv1	UTSW	13	81592551	splice site	probably benign
R1928:Adgrv1	UTSW	13	81520786	missense	probably benign	0.00
R1938:Adgrv1	UTSW	13	81391757	missense	probably damaging	0.99
R1944:Adgrv1	UTSW	13	81510911	missense	probably damaging	1.00
R1946:Adgrv1	UTSW	13	81374249	missense	probably damaging	1.00
R1984:Adgrv1	UTSW	13	81523749	missense	probably damaging	1.00
R2027:Adgrv1	UTSW	13	81595182	missense	probably damaging	1.00
R2063:Adgrv1	UTSW	13	81561469	missense	possibly damaging	0.81
R2116:Adgrv1	UTSW	13	81529013	missense	probably benign	0.11
R2117:Adgrv1	UTSW	13	81492537	missense	probably benign	0.00
R2125:Adgrv1	UTSW	13	81419535	missense	probably benign	0.00
R2125:Adgrv1	UTSW	13	81419950	missense	probably benign	0.02
R2127:Adgrv1	UTSW	13	81557080	missense	probably damaging	1.00
R2128:Adgrv1	UTSW	13	81557080	missense	probably damaging	1.00
R2129:Adgrv1	UTSW	13	81557080	missense	probably damaging	1.00
R2130:Adgrv1	UTSW	13	81581727	missense	possibly damaging	0.61
R2135:Adgrv1	UTSW	13	81524557	critical splice donor site	probably null
R2138:Adgrv1	UTSW	13	81445320	missense	probably benign	0.00
R2166:Adgrv1	UTSW	13	81568643	missense	probably damaging	1.00
R2171:Adgrv1	UTSW	13	81270918	missense	probably damaging	1.00
R2191:Adgrv1	UTSW	13	81566290	missense	possibly damaging	0.90
R2256:Adgrv1	UTSW	13	81506140	missense	probably benign
R2260:Adgrv1	UTSW	13	81568374	missense	probably damaging	0.97
R2323:Adgrv1	UTSW	13	81595179	missense	probably damaging	1.00
R2432:Adgrv1	UTSW	13	81540132	frame shift	probably null
R2910:Adgrv1	UTSW	13	81557119	missense	possibly damaging	0.61
R2920:Adgrv1	UTSW	13	81448865	missense	probably benign	0.01
R2989:Adgrv1	UTSW	13	81581747	missense	probably damaging	1.00
R3402:Adgrv1	UTSW	13	81543542	missense	probably damaging	1.00
R3692:Adgrv1	UTSW	13	81524600	missense	possibly damaging	0.91
R3711:Adgrv1	UTSW	13	81419475	missense	probably benign	0.02
R3732:Adgrv1	UTSW	13	81556956	missense	probably damaging	1.00
R3732:Adgrv1	UTSW	13	81556956	missense	probably damaging	1.00
R3733:Adgrv1	UTSW	13	81556956	missense	probably damaging	1.00
R3773:Adgrv1	UTSW	13	81499043	missense	probably damaging	0.98
R3791:Adgrv1	UTSW	13	81593102	missense	probably damaging	1.00
R3794:Adgrv1	UTSW	13	81283367	start codon destroyed	probably damaging	1.00
R3848:Adgrv1	UTSW	13	81440072	missense	probably damaging	0.97
R3880:Adgrv1	UTSW	13	81435705	missense	probably benign	0.02
R3925:Adgrv1	UTSW	13	81578772	missense	possibly damaging	0.89
R3934:Adgrv1	UTSW	13	81475047	missense	probably benign	0.06
R3942:Adgrv1	UTSW	13	81182789	missense	probably damaging	1.00
R4002:Adgrv1	UTSW	13	81540132	frame shift	probably null
R4003:Adgrv1	UTSW	13	81540132	frame shift	probably null
R4194:Adgrv1	UTSW	13	81498996	missense	probably damaging	0.98
R4308:Adgrv1	UTSW	13	81440192	missense	probably damaging	0.96
R4368:Adgrv1	UTSW	13	81492910	missense	unknown
R4388:Adgrv1	UTSW	13	81581709	missense	probably damaging	0.98
R4421:Adgrv1	UTSW	13	81566302	missense	probably damaging	1.00
R4468:Adgrv1	UTSW	13	81374256	missense	probably benign	0.01
R4483:Adgrv1	UTSW	13	81419230	missense	probably benign	0.01
R4487:Adgrv1	UTSW	13	81440066	missense	probably damaging	0.99
R4566:Adgrv1	UTSW	13	81419808	missense	probably damaging	1.00
R4615:Adgrv1	UTSW	13	81494569	splice site	probably null
R4647:Adgrv1	UTSW	13	81528795	nonsense	probably null
R4657:Adgrv1	UTSW	13	81405364	missense	probably benign	0.01
R4723:Adgrv1	UTSW	13	81433525	missense	probably benign	0.02
R4765:Adgrv1	UTSW	13	81106919	missense	probably damaging	0.99
R4783:Adgrv1	UTSW	13	81095445	missense	probably damaging	0.99
R4796:Adgrv1	UTSW	13	81155231	nonsense	probably null
R4816:Adgrv1	UTSW	13	81528674	missense	probably damaging	1.00
R4833:Adgrv1	UTSW	13	81560844	missense	possibly damaging	0.81
R4841:Adgrv1	UTSW	13	81503001	critical splice donor site	probably null
R4871:Adgrv1	UTSW	13	81533122	intron	probably benign
R4897:Adgrv1	UTSW	13	81561585	splice site	probably null
R4906:Adgrv1	UTSW	13	81270738	splice site	probably null
R4917:Adgrv1	UTSW	13	81510877	missense	probably benign	0.30
R4996:Adgrv1	UTSW	13	81578734	missense	probably benign	0.01
R5030:Adgrv1	UTSW	13	81459829	missense	probably benign	0.43
R5044:Adgrv1	UTSW	13	81488931	missense	probably benign	0.01
R5052:Adgrv1	UTSW	13	81528821	missense	probably damaging	0.97
R5093:Adgrv1	UTSW	13	81592585	missense	probably damaging	1.00
R5095:Adgrv1	UTSW	13	81095487	missense	probably benign	0.00
R5119:Adgrv1	UTSW	13	81419427	missense	possibly damaging	0.93
R5133:Adgrv1	UTSW	13	81439441	missense	probably damaging	1.00
R5141:Adgrv1	UTSW	13	81270918	missense	probably damaging	1.00
R5164:Adgrv1	UTSW	13	81435674	missense	probably benign	0.00
R5180:Adgrv1	UTSW	13	81283416	start gained	probably benign
R5203:Adgrv1	UTSW	13	81510905	missense	possibly damaging	0.91
R5241:Adgrv1	UTSW	13	81488929	nonsense	probably null
R5280:Adgrv1	UTSW	13	81397465	missense	possibly damaging	0.95
R5289:Adgrv1	UTSW	13	81521084	missense	probably benign	0.04
R5304:Adgrv1	UTSW	13	81578253	missense	possibly damaging	0.93
R5310:Adgrv1	UTSW	13	81476690	missense	possibly damaging	0.95
R5338:Adgrv1	UTSW	13	81529046	missense	possibly damaging	0.80
R5352:Adgrv1	UTSW	13	81494657	missense	probably damaging	1.00
R5402:Adgrv1	UTSW	13	81459715	missense	probably benign	0.25
R5418:Adgrv1	UTSW	13	81419308	missense	probably benign	0.01
R5460:Adgrv1	UTSW	13	81424258	missense	possibly damaging	0.95
R5510:Adgrv1	UTSW	13	81445244	missense	probably damaging	1.00
R5521:Adgrv1	UTSW	13	81419389	missense	probably benign	0.01
R5538:Adgrv1	UTSW	13	81433689	missense	probably benign	0.02
R5561:Adgrv1	UTSW	13	81476564	missense	probably damaging	0.99
R5584:Adgrv1	UTSW	13	81405267	missense	probably damaging	1.00
R5608:Adgrv1	UTSW	13	81155276	missense	probably damaging	1.00
R5610:Adgrv1	UTSW	13	81521117	missense	probably damaging	1.00
R5619:Adgrv1	UTSW	13	81472500	missense	probably damaging	1.00
R5751:Adgrv1	UTSW	13	81522236	missense	probably damaging	1.00
R5832:Adgrv1	UTSW	13	81103302	missense	possibly damaging	0.95
R5885:Adgrv1	UTSW	13	81424271	missense	probably benign	0.15
R5930:Adgrv1	UTSW	13	81397451	missense	probably benign	0.06
R5937:Adgrv1	UTSW	13	81107075	missense	probably damaging	0.96
R5943:Adgrv1	UTSW	13	81386866	missense	probably damaging	0.98
R5951:Adgrv1	UTSW	13	81442501	missense	probably damaging	1.00
R5977:Adgrv1	UTSW	13	81435559	critical splice donor site	probably null
R5995:Adgrv1	UTSW	13	81466259	missense	probably benign	0.03
R6017:Adgrv1	UTSW	13	81397423	nonsense	probably null
R6024:Adgrv1	UTSW	13	81476505	missense	probably benign	0.26
R6049:Adgrv1	UTSW	13	81397354	missense	probably benign	0.00
R6108:Adgrv1	UTSW	13	81391695	missense	probably damaging	0.99
R6130:Adgrv1	UTSW	13	81427745	missense	probably damaging	0.99
R6132:Adgrv1	UTSW	13	81506076	missense	probably benign	0.04
R6149:Adgrv1	UTSW	13	81182774	missense	probably damaging	1.00
R6169:Adgrv1	UTSW	13	81419259	missense	probably benign	0.00
R6175:Adgrv1	UTSW	13	81386005	missense	probably damaging	1.00
R6184:Adgrv1	UTSW	13	81433838	missense	probably benign	0.01
R6190:Adgrv1	UTSW	13	81459763	splice site	probably null
R6190:Adgrv1	UTSW	13	81524779	splice site	probably null
R6215:Adgrv1	UTSW	13	81579594	nonsense	probably null
R6216:Adgrv1	UTSW	13	81524471	splice site	probably null
R6238:Adgrv1	UTSW	13	81466283	missense	probably benign	0.07
R6244:Adgrv1	UTSW	13	81106931	missense	probably damaging	1.00
R6298:Adgrv1	UTSW	13	81391767	missense	probably benign	0.00
R6316:Adgrv1	UTSW	13	81499068	missense	possibly damaging	0.63
R6336:Adgrv1	UTSW	13	81385981	missense	probably benign	0.09
R6358:Adgrv1	UTSW	13	81414583	missense	probably damaging	0.99
R6421:Adgrv1	UTSW	13	81508736	missense	possibly damaging	0.69
R6466:Adgrv1	UTSW	13	81575101	splice site	probably null
R6467:Adgrv1	UTSW	13	81444538	missense	probably benign	0.01
R6510:Adgrv1	UTSW	13	81559490	missense	possibly damaging	0.88
R6519:Adgrv1	UTSW	13	81567343	missense	probably benign	0.01
R6521:Adgrv1	UTSW	13	81433652	missense	probably damaging	1.00
R6598:Adgrv1	UTSW	13	81506179	missense	probably damaging	1.00
R6605:Adgrv1	UTSW	13	81487962	missense	possibly damaging	0.80
R6626:Adgrv1	UTSW	13	81518126	missense	probably damaging	1.00
R6633:Adgrv1	UTSW	13	81568643	missense	probably damaging	1.00
R6721:Adgrv1	UTSW	13	81481515	missense	probably benign	0.00
R6725:Adgrv1	UTSW	13	81437557	missense	probably damaging	0.99
R6725:Adgrv1	UTSW	13	81493210	missense	probably damaging	1.00
R6796:Adgrv1	UTSW	13	81472478	missense	probably damaging	1.00
R6809:Adgrv1	UTSW	13	81472953	missense	probably benign	0.01
R6823:Adgrv1	UTSW	13	81557081	missense	probably damaging	1.00
R6876:Adgrv1	UTSW	13	81155154	critical splice donor site	probably null
R6878:Adgrv1	UTSW	13	81433494	missense	probably benign	0.06
R6887:Adgrv1	UTSW	13	81528701	missense	probably benign	0.01
R6888:Adgrv1	UTSW	13	81508669	missense	probably damaging	1.00
R6957:Adgrv1	UTSW	13	81567490	missense	probably benign	0.00
R6976:Adgrv1	UTSW	13	81520997	missense	probably damaging	1.00
R7003:Adgrv1	UTSW	13	81522104	critical splice donor site	probably null
R7007:Adgrv1	UTSW	13	81536364	missense	possibly damaging	0.80
R7073:Adgrv1	UTSW	13	81561474	missense	probably damaging	1.00
R7100:Adgrv1	UTSW	13	81270897	missense	probably damaging	1.00
R7107:Adgrv1	UTSW	13	81578142	missense	probably benign	0.13
R7123:Adgrv1	UTSW	13	81592574	missense	probably damaging	1.00
R7141:Adgrv1	UTSW	13	81492501	missense	probably benign	0.02
R7168:Adgrv1	UTSW	13	81397209	missense	possibly damaging	0.52
R7205:Adgrv1	UTSW	13	81479658	missense	probably benign	0.00
R7239:Adgrv1	UTSW	13	81476612	missense	possibly damaging	0.69
R7249:Adgrv1	UTSW	13	81374259	missense	probably damaging	1.00
R7313:Adgrv1	UTSW	13	81520515	missense	possibly damaging	0.95
R7376:Adgrv1	UTSW	13	81518126	missense	probably damaging	1.00
R7392:Adgrv1	UTSW	13	81560689	missense	probably damaging	1.00
R7395:Adgrv1	UTSW	13	81559348	missense	probably damaging	1.00
R7410:Adgrv1	UTSW	13	81563619	missense	probably benign	0.04
R7449:Adgrv1	UTSW	13	81499073	missense	probably damaging	0.99
R7496:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R7497:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R7498:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R7567:Adgrv1	UTSW	13	81433529	missense	probably benign	0.00
R7567:Adgrv1	UTSW	13	81579477	missense	probably damaging	1.00
R7614:Adgrv1	UTSW	13	81520661	missense	probably damaging	1.00
R7623:Adgrv1	UTSW	13	81422225	missense	possibly damaging	0.77
R7665:Adgrv1	UTSW	13	81499142	missense	probably damaging	1.00
R7685:Adgrv1	UTSW	13	81103324	missense	possibly damaging	0.94
R7788:Adgrv1	UTSW	13	81573314	missense	probably damaging	1.00
R7809:Adgrv1	UTSW	13	81528641	missense	possibly damaging	0.81
R7854:Adgrv1	UTSW	13	81593088	missense	probably damaging	1.00
R7894:Adgrv1	UTSW	13	81567451	missense	probably benign	0.00
R7948:Adgrv1	UTSW	13	81559529	missense	probably damaging	1.00
R7948:Adgrv1	UTSW	13	81559588	missense	probably damaging	1.00
R7949:Adgrv1	UTSW	13	81155234	missense	probably damaging	1.00
R7951:Adgrv1	UTSW	13	81563570	missense	probably damaging	1.00
R7968:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R7969:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R7973:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R8007:Adgrv1	UTSW	13	81283466	missense	probably benign	0.04
R8018:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R8044:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R8050:Adgrv1	UTSW	13	81413177	missense	probably damaging	1.00
R8090:Adgrv1	UTSW	13	81448834	critical splice donor site	probably null
R8104:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R8122:Adgrv1	UTSW	13	81270918	missense	probably damaging	1.00
R8122:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R8123:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R8125:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R8126:Adgrv1	UTSW	13	81440225	missense	possibly damaging	0.79
R8212:Adgrv1	UTSW	13	81522121	missense	probably benign	0.01
R8221:Adgrv1	UTSW	13	81528914	missense	probably benign	0.00
R8256:Adgrv1	UTSW	13	81579560	missense	probably damaging	1.00
R8270:Adgrv1	UTSW	13	81503044	missense	probably damaging	0.96
R8290:Adgrv1	UTSW	13	81481883	missense	probably benign	0.00
R8298:Adgrv1	UTSW	13	81385914	nonsense	probably null
R8317:Adgrv1	UTSW	13	81575117	missense	probably damaging	0.98
R8326:Adgrv1	UTSW	13	81445343	missense	probably damaging	1.00
R8327:Adgrv1	UTSW	13	81445343	missense	probably damaging	1.00
R8330:Adgrv1	UTSW	13	81445343	missense	probably damaging	1.00
R8332:Adgrv1	UTSW	13	81445343	missense	probably damaging	1.00
R8345:Adgrv1	UTSW	13	81103386	missense	probably damaging	1.00
R8398:Adgrv1	UTSW	13	81182678	missense	probably damaging	1.00
R8399:Adgrv1	UTSW	13	81489170	missense	possibly damaging	0.55
R8450:Adgrv1	UTSW	13	81435843	splice site	probably null
R8471:Adgrv1	UTSW	13	81446472	missense	probably benign	0.00
R8534:Adgrv1	UTSW	13	81386768	missense	probably benign	0.02
R8537:Adgrv1	UTSW	13	81536372	missense	probably damaging	1.00
R8703:Adgrv1	UTSW	13	81528673	missense	probably damaging	1.00
R8845:Adgrv1	UTSW	13	81481359	missense	possibly damaging	0.79
R8846:Adgrv1	UTSW	13	81488906	critical splice donor site	probably null
R8849:Adgrv1	UTSW	13	81521205	missense	probably benign
R8856:Adgrv1	UTSW	13	81559502	missense	probably benign	0.11
R8915:Adgrv1	UTSW	13	81567439	missense	probably damaging	1.00
R8963:Adgrv1	UTSW	13	81419469	missense	probably benign
R8994:Adgrv1	UTSW	13	81405338	frame shift	probably null
R8995:Adgrv1	UTSW	13	81405338	frame shift	probably null
R8996:Adgrv1	UTSW	13	81405338	frame shift	probably null
R8997:Adgrv1	UTSW	13	81405338	frame shift	probably null
R9022:Adgrv1	UTSW	13	81155193	missense	probably damaging	1.00
R9059:Adgrv1	UTSW	13	81414573	critical splice donor site	probably null
R9076:Adgrv1	UTSW	13	81422128	critical splice donor site	probably null
R9119:Adgrv1	UTSW	13	81510876	missense	probably damaging	0.97
R9137:Adgrv1	UTSW	13	81540014	missense	probably damaging	1.00
R9146:Adgrv1	UTSW	13	81413172	missense	probably benign	0.11
R9156:Adgrv1	UTSW	13	81521183	missense	probably benign	0.00
R9163:Adgrv1	UTSW	13	81419422	missense	probably benign	0.19
R9282:Adgrv1	UTSW	13	81103372	missense	probably damaging	1.00
R9286:Adgrv1	UTSW	13	81446401	missense	probably damaging	0.98
R9328:Adgrv1	UTSW	13	81472404	missense	probably damaging	1.00
R9329:Adgrv1	UTSW	13	81499122	missense	probably damaging	1.00
R9350:Adgrv1	UTSW	13	81506155	missense	probably damaging	1.00
R9377:Adgrv1	UTSW	13	81557158	missense	probably damaging	0.99
R9394:Adgrv1	UTSW	13	81476648	missense	possibly damaging	0.95
R9419:Adgrv1	UTSW	13	81508768	missense	probably benign	0.44
R9427:Adgrv1	UTSW	13	81584115	missense	probably benign	0.00
R9429:Adgrv1	UTSW	13	81419349	missense	probably damaging	1.00
R9429:Adgrv1	UTSW	13	81593046	missense	probably damaging	0.99
R9433:Adgrv1	UTSW	13	81566352	missense	probably benign	0.02
X0054:Adgrv1	UTSW	13	81559270	missense	probably damaging	1.00
X0062:Adgrv1	UTSW	13	81386926	missense	probably damaging	0.99
X0067:Adgrv1	UTSW	13	81543392	missense	possibly damaging	0.51
Z1088:Adgrv1	UTSW	13	81476672	missense	probably damaging	1.00
Z1176:Adgrv1	UTSW	13	81559634	missense	possibly damaging	0.90
Z1177:Adgrv1	UTSW	13	81419256	missense	possibly damaging	0.54

Nature of Mutation

DNA sequencing using the SOLiD technique identified a C to T transition at position 15163 of the Gpr98 transcript in exon 74 of 90 total exons. Multiple transcripts of Gpr98 gene are displayed on Ensembl. The mutated nucleotide causes a threonine to methione substitution at amino acid 5016 of the encoded protein (isoform 1). The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Gpr98 gene encodes the 6298 amino acid G-protein coupled receptor 98 (GPCR98), also known as very large G-protein coupled receptor 1 (VLGR1) or monogenic audiogenic seizure susceptibility protein 1 (MASS1). Multiple isoforms are produced by alternative splicing. Isoform 1 is expressed predominantly in the developing central nervous system and the eye, and contains thirty-five Calx-beta domains (form β-sheets), six EARs (epilepsy associated repeats that form a β-propeller fold), and one GPS (GPCR proteolytic site) domain (Uniprot Q8VHN7). Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells.

The T5016M change occurs in the extracellular region of the protein between Calx-beta domains 32 and 33, and is predicted to be benign by the PolyPhen program.

Posted On

2010-04-12