Mutagenetix > Incidental Mutation

Incidental Mutation 'R6293:Adgra3'

508544

Institutional Source

Beutler Lab

Gene Symbol

Adgra3

Ensembl Gene

ENSMUSG00000029090

Gene Name

adhesion G protein-coupled receptor A3

Synonyms

Tem5-like, 3830613O22Rik, Gpr125

MMRRC Submission

044462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50117293-50216338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50118189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1120 (P1120S)

Ref Sequence

ENSEMBL: ENSMUSP00000030971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030971]

AlphaFold

Q7TT36

Predicted Effect

probably benign
Transcript: ENSMUST00000030971
AA Change: P1120S

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030971
Gene: ENSMUSG00000029090
AA Change: P1120S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	36	48	N/A	INTRINSIC
LRR	68	92	1.71e1	SMART
LRR_TYP	93	116	2.27e-4	SMART
LRR_TYP	117	140	4.11e-2	SMART
LRR_TYP	141	164	3.89e-3	SMART
LRRCT	176	225	5.24e-5	SMART
IG	238	331	8.26e-5	SMART
GPS	686	738	4.81e-3	SMART
Pfam:7tm_2	746	1031	1.6e-16	PFAM
low complexity region	1251	1262	N/A	INTRINSIC

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

98% (54/55)

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. This membrane protein may play a role in tumor angiogenesis through its interaction with the human homolog of the Drosophila disc large tumor suppressor gene. This gene is mapped to a candidate region of chromosome 4 which may be associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2012]
PHENOTYPE: Homozygous mutant mice are fertile and grossly normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,935,395 (GRCm39)	D323G	probably damaging	Het
Abcb1b	T	C	5: 8,903,493 (GRCm39)	I1048T	probably benign	Het
Alkbh8	G	T	9: 3,347,841 (GRCm39)	L211F	possibly damaging	Het
Ankrd27	T	C	7: 35,307,885 (GRCm39)	S375P	possibly damaging	Het
Apoc1	T	A	7: 19,425,817 (GRCm39)	T68S	probably damaging	Het
Arfgef2	T	A	2: 166,715,508 (GRCm39)	Y1318N	possibly damaging	Het
Camsap2	C	A	1: 136,215,658 (GRCm39)	R345L	probably damaging	Het
Ccdc38	C	T	10: 93,398,659 (GRCm39)	Q46*	probably null	Het
Cdk12	T	A	11: 98,115,379 (GRCm39)	M840K	unknown	Het
Cfap251	A	C	5: 123,460,511 (GRCm39)	N1158H	probably damaging	Het
Col12a1	A	T	9: 79,521,640 (GRCm39)	N2772K	probably benign	Het
Dthd1	A	G	5: 63,000,193 (GRCm39)	D505G	probably damaging	Het
Elf1	C	T	14: 79,798,226 (GRCm39)	H38Y	probably damaging	Het
Gcnt2	T	A	13: 41,072,173 (GRCm39)	V272D	probably damaging	Het
Gm9964	T	A	11: 79,187,420 (GRCm39)	K9M	unknown	Het
Gpr155	A	G	2: 73,204,341 (GRCm39)	S158P	possibly damaging	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hmcn2	T	C	2: 31,225,463 (GRCm39)	I124T	probably damaging	Het
Hydin	A	G	8: 111,324,543 (GRCm39)	S4635G	possibly damaging	Het
Lrch2	C	T	X: 146,263,553 (GRCm39)	A369T	probably damaging	Homo
Lrrc8c	A	G	5: 105,754,612 (GRCm39)	Y129C	probably damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mcm3ap	C	G	10: 76,307,312 (GRCm39)	Y418*	probably null	Het
Mpdz	A	G	4: 81,278,293 (GRCm39)	L764P	probably damaging	Het
Myt1l	A	G	12: 29,877,627 (GRCm39)	D426G	unknown	Het
Ndel1	C	T	11: 68,727,101 (GRCm39)	R192H	probably damaging	Het
Nudt21	T	C	8: 94,755,506 (GRCm39)	D134G	probably damaging	Het
Nup210l	A	T	3: 90,022,371 (GRCm39)	H113L	probably damaging	Het
Nxf1	A	G	19: 8,746,546 (GRCm39)	K586E	probably damaging	Het
Or2ag15	T	C	7: 106,340,613 (GRCm39)	H176R	probably damaging	Het
Or4s2	A	G	2: 88,473,624 (GRCm39)	E171G	possibly damaging	Het
Osbpl8	A	G	10: 111,108,099 (GRCm39)	Y365C	possibly damaging	Het
Pkd2l2	A	G	18: 34,560,497 (GRCm39)	Y368C	probably damaging	Het
Pkn2	A	G	3: 142,515,465 (GRCm39)	F649L	probably benign	Het
Pla2g4a	T	C	1: 149,755,798 (GRCm39)	Y205C	probably damaging	Het
Prex2	A	G	1: 11,232,522 (GRCm39)	N863S	probably benign	Het
Prkdc	A	G	16: 15,605,019 (GRCm39)	K2979R	probably benign	Het
Ptk6	T	C	2: 180,840,253 (GRCm39)	Y251C	probably damaging	Het
Rapgef6	T	A	11: 54,525,607 (GRCm39)	W334R	probably damaging	Het
Rbm11	A	T	16: 75,393,655 (GRCm39)		probably null	Het
Rhbdl1	A	G	17: 26,053,943 (GRCm39)	L309P	probably damaging	Het
Rhbg	G	A	3: 88,153,133 (GRCm39)	R274*	probably null	Het
Rpp30	A	G	19: 36,081,845 (GRCm39)	*269W	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Slc44a1	A	G	4: 53,561,099 (GRCm39)	K605R	probably damaging	Het
Slco2a1	A	G	9: 102,927,346 (GRCm39)	S80G	probably benign	Het
Tmem50b	A	T	16: 91,380,164 (GRCm39)	M71K	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyro3	A	G	2: 119,638,481 (GRCm39)	T303A	possibly damaging	Het
Uba3	A	T	6: 97,173,869 (GRCm39)	D105E	probably damaging	Het
Vmn1r21	T	C	6: 57,821,255 (GRCm39)	D63G	probably benign	Het
Vstm2b	T	A	7: 40,549,533 (GRCm39)	I63N	probably damaging	Het
Ylpm1	C	G	12: 85,062,051 (GRCm39)	P651A	unknown	Het
Zscan22	T	A	7: 12,640,834 (GRCm39)	C359*	probably null	Het

Other mutations in Adgra3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Adgra3	APN	5	50,183,100 (GRCm39)	missense	probably damaging	1.00
IGL00848:Adgra3	APN	5	50,159,291 (GRCm39)	missense	probably damaging	1.00
IGL01455:Adgra3	APN	5	50,144,899 (GRCm39)	nonsense	probably null
IGL01665:Adgra3	APN	5	50,164,272 (GRCm39)	missense	possibly damaging	0.64
IGL02151:Adgra3	APN	5	50,136,484 (GRCm39)	missense	probably benign
IGL02239:Adgra3	APN	5	50,118,054 (GRCm39)	missense	probably damaging	1.00
IGL02351:Adgra3	APN	5	50,215,900 (GRCm39)	missense	probably benign	0.19
IGL02358:Adgra3	APN	5	50,215,900 (GRCm39)	missense	probably benign	0.19
IGL02938:Adgra3	APN	5	50,118,659 (GRCm39)	missense	probably benign	0.01
IGL03028:Adgra3	APN	5	50,174,194 (GRCm39)	missense	probably benign	0.30
aperture	UTSW	5	50,156,487 (GRCm39)	nonsense	probably null
saltatory	UTSW	5	50,117,901 (GRCm39)	missense	probably benign	0.09
ANU74:Adgra3	UTSW	5	50,118,380 (GRCm39)	missense	probably benign	0.16
R0041:Adgra3	UTSW	5	50,117,901 (GRCm39)	missense	probably benign	0.09
R0041:Adgra3	UTSW	5	50,117,901 (GRCm39)	missense	probably benign	0.09
R0121:Adgra3	UTSW	5	50,183,128 (GRCm39)	splice site	probably benign
R0125:Adgra3	UTSW	5	50,159,194 (GRCm39)	splice site	probably benign
R0137:Adgra3	UTSW	5	50,121,182 (GRCm39)	splice site	probably benign
R0415:Adgra3	UTSW	5	50,119,099 (GRCm39)	splice site	probably benign
R0479:Adgra3	UTSW	5	50,147,607 (GRCm39)	missense	probably benign	0.00
R0505:Adgra3	UTSW	5	50,166,676 (GRCm39)	critical splice donor site	probably null
R0831:Adgra3	UTSW	5	50,128,144 (GRCm39)	missense	probably damaging	1.00
R0883:Adgra3	UTSW	5	50,118,065 (GRCm39)	missense	probably damaging	1.00
R0920:Adgra3	UTSW	5	50,118,503 (GRCm39)	missense	probably benign	0.19
R1139:Adgra3	UTSW	5	50,119,097 (GRCm39)	splice site	probably null
R1211:Adgra3	UTSW	5	50,164,218 (GRCm39)	missense	possibly damaging	0.88
R1370:Adgra3	UTSW	5	50,118,129 (GRCm39)	missense	possibly damaging	0.56
R1530:Adgra3	UTSW	5	50,118,479 (GRCm39)	missense	probably benign	0.00
R1703:Adgra3	UTSW	5	50,164,117 (GRCm39)	missense	probably benign	0.00
R1782:Adgra3	UTSW	5	50,129,404 (GRCm39)	missense	probably benign	0.02
R1843:Adgra3	UTSW	5	50,118,834 (GRCm39)	missense	probably damaging	1.00
R2157:Adgra3	UTSW	5	50,159,283 (GRCm39)	missense	possibly damaging	0.87
R2281:Adgra3	UTSW	5	50,159,222 (GRCm39)	missense	probably benign	0.04
R2385:Adgra3	UTSW	5	50,136,908 (GRCm39)	missense	possibly damaging	0.95
R2426:Adgra3	UTSW	5	50,166,791 (GRCm39)	missense	possibly damaging	0.61
R3084:Adgra3	UTSW	5	50,170,733 (GRCm39)	critical splice donor site	probably null
R3086:Adgra3	UTSW	5	50,170,733 (GRCm39)	critical splice donor site	probably null
R3409:Adgra3	UTSW	5	50,159,272 (GRCm39)	missense	probably damaging	1.00
R3410:Adgra3	UTSW	5	50,159,272 (GRCm39)	missense	probably damaging	1.00
R3411:Adgra3	UTSW	5	50,159,272 (GRCm39)	missense	probably damaging	1.00
R4301:Adgra3	UTSW	5	50,118,420 (GRCm39)	missense	possibly damaging	0.94
R4360:Adgra3	UTSW	5	50,147,552 (GRCm39)	missense	possibly damaging	0.92
R4475:Adgra3	UTSW	5	50,159,240 (GRCm39)	missense	probably damaging	1.00
R4569:Adgra3	UTSW	5	50,117,905 (GRCm39)	missense	probably damaging	1.00
R4607:Adgra3	UTSW	5	50,128,081 (GRCm39)	missense	probably damaging	0.98
R4667:Adgra3	UTSW	5	50,136,298 (GRCm39)	missense	possibly damaging	0.94
R4671:Adgra3	UTSW	5	50,136,710 (GRCm39)	missense	probably damaging	1.00
R4886:Adgra3	UTSW	5	50,156,537 (GRCm39)	missense	probably benign	0.07
R5197:Adgra3	UTSW	5	50,118,096 (GRCm39)	missense	probably benign	0.01
R5208:Adgra3	UTSW	5	50,168,857 (GRCm39)	missense	probably damaging	0.99
R5313:Adgra3	UTSW	5	50,118,651 (GRCm39)	missense	probably benign	0.24
R5435:Adgra3	UTSW	5	50,147,468 (GRCm39)	missense	probably damaging	0.99
R5663:Adgra3	UTSW	5	50,156,627 (GRCm39)	missense	probably benign	0.14
R6038:Adgra3	UTSW	5	50,156,487 (GRCm39)	nonsense	probably null
R6038:Adgra3	UTSW	5	50,156,487 (GRCm39)	nonsense	probably null
R6064:Adgra3	UTSW	5	50,117,667 (GRCm39)	missense	probably damaging	0.97
R6259:Adgra3	UTSW	5	50,156,483 (GRCm39)	missense	possibly damaging	0.63
R6272:Adgra3	UTSW	5	50,166,791 (GRCm39)	missense	possibly damaging	0.61
R6296:Adgra3	UTSW	5	50,118,189 (GRCm39)	missense	probably benign	0.21
R6297:Adgra3	UTSW	5	50,118,189 (GRCm39)	missense	probably benign	0.21
R6352:Adgra3	UTSW	5	50,147,592 (GRCm39)	missense	probably benign	0.01
R6352:Adgra3	UTSW	5	50,136,478 (GRCm39)	missense	probably benign
R6989:Adgra3	UTSW	5	50,164,226 (GRCm39)	missense	probably damaging	1.00
R7026:Adgra3	UTSW	5	50,118,083 (GRCm39)	missense	probably benign
R7147:Adgra3	UTSW	5	50,118,587 (GRCm39)	missense	probably damaging	1.00
R7206:Adgra3	UTSW	5	50,164,238 (GRCm39)	missense	probably damaging	1.00
R7381:Adgra3	UTSW	5	50,216,116 (GRCm39)	start codon destroyed	probably null
R7508:Adgra3	UTSW	5	50,174,209 (GRCm39)	missense	probably benign	0.10
R7538:Adgra3	UTSW	5	50,118,792 (GRCm39)	missense	probably benign	0.01
R7579:Adgra3	UTSW	5	50,144,977 (GRCm39)	missense	probably benign
R7951:Adgra3	UTSW	5	50,121,126 (GRCm39)	missense	probably damaging	1.00
R8269:Adgra3	UTSW	5	50,121,079 (GRCm39)	missense	probably damaging	0.98
R8458:Adgra3	UTSW	5	50,145,013 (GRCm39)	missense	probably damaging	0.99
R8486:Adgra3	UTSW	5	50,147,621 (GRCm39)	missense	probably damaging	0.98
R8912:Adgra3	UTSW	5	50,118,273 (GRCm39)	missense	possibly damaging	0.61
R8955:Adgra3	UTSW	5	50,118,731 (GRCm39)	missense	probably benign	0.05
R9108:Adgra3	UTSW	5	50,136,295 (GRCm39)	missense	probably damaging	1.00
R9112:Adgra3	UTSW	5	50,118,395 (GRCm39)	missense	probably damaging	1.00
R9191:Adgra3	UTSW	5	50,145,006 (GRCm39)	missense	possibly damaging	0.88
R9267:Adgra3	UTSW	5	50,155,618 (GRCm39)	missense	possibly damaging	0.87
R9312:Adgra3	UTSW	5	50,117,900 (GRCm39)	missense	probably damaging	1.00
R9537:Adgra3	UTSW	5	50,118,207 (GRCm39)	missense	possibly damaging	0.82
R9614:Adgra3	UTSW	5	50,164,250 (GRCm39)	missense	probably damaging	1.00
RF005:Adgra3	UTSW	5	50,170,729 (GRCm39)	splice site	probably null
RF024:Adgra3	UTSW	5	50,170,729 (GRCm39)	splice site	probably null
RF036:Adgra3	UTSW	5	50,215,983 (GRCm39)	small deletion	probably benign
X0065:Adgra3	UTSW	5	50,129,304 (GRCm39)	missense	probably benign
Z1187:Adgra3	UTSW	5	50,136,421 (GRCm39)	missense	probably damaging	1.00
Z1192:Adgra3	UTSW	5	50,156,623 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGGCATACTCTCGCAGGAC -3'
(R):5'- ATCATGATGTGCTGCCCAGG -3'

Sequencing Primer
(F):5'- AGGACTGTGAGCCTGCTG -3'
(R):5'- GTACTCCGTGCAAGTCAACGTC -3'

Posted On

2018-03-15