Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02322:Rpgrip1'

288301

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpgrip1

Ensembl Gene

ENSMUSG00000057132

Gene Name

retinitis pigmentosa GTPase regulator interacting protein 1

Synonyms

A930002K18Rik, 4930505G06Rik, 4930401L23Rik, nmf247

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

IGL02322

Quality Score

Status

Chromosome

Chromosomal Location

52110704-52163546 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52150042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1047 (N1047S)

Ref Sequence

ENSEMBL: ENSMUSP00000138027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111600] [ENSMUST00000111603] [ENSMUST00000180646] [ENSMUST00000181017] [ENSMUST00000181401]

AlphaFold

Q9EPQ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111600
AA Change: N854S

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
AA Change: N854S

Domain	Start	End	E-Value	Type
low complexity region	98	119	N/A	INTRINSIC
coiled coil region	248	348	N/A	INTRINSIC
coiled coil region	499	542	N/A	INTRINSIC
C2	602	707	1.08e-2	SMART
coiled coil region	746	795	N/A	INTRINSIC
Blast:C2	958	1086	1e-37	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111603
AA Change: N1058S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
AA Change: N1058S

Domain	Start	End	E-Value	Type
low complexity region	98	119	N/A	INTRINSIC
coiled coil region	248	348	N/A	INTRINSIC
coiled coil region	499	543	N/A	INTRINSIC
Pfam:C2-C2_1	582	721	1.9e-49	PFAM
C2	764	869	7.3e-5	SMART
coiled coil region	910	999	N/A	INTRINSIC
Blast:C2	1162	1290	2e-37	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180388

Predicted Effect

probably benign
Transcript: ENSMUST00000180500

Predicted Effect

probably benign
Transcript: ENSMUST00000180513

Predicted Effect

probably benign
Transcript: ENSMUST00000180646

SMART Domains

Protein: ENSMUSP00000137751
Gene: ENSMUSG00000057132

Domain	Start	End	E-Value	Type
low complexity region	98	119	N/A	INTRINSIC
coiled coil region	248	276	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180901

SMART Domains

Protein: ENSMUSP00000137826
Gene: ENSMUSG00000057132

Domain	Start	End	E-Value	Type
coiled coil region	179	223	N/A	INTRINSIC
coiled coil region	274	363	N/A	INTRINSIC
Blast:C2	526	654	2e-38	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000181017

SMART Domains

Protein: ENSMUSP00000137900
Gene: ENSMUSG00000057132

Domain	Start	End	E-Value	Type
coiled coil region	1	31	N/A	INTRINSIC
Blast:C2	126	254	2e-41	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181297

SMART Domains

Protein: ENSMUSP00000137653
Gene: ENSMUSG00000057132

Domain	Start	End	E-Value	Type
coiled coil region	180	224	N/A	INTRINSIC
low complexity region	257	284	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181401
AA Change: N1047S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
AA Change: N1047S

Domain	Start	End	E-Value	Type
low complexity region	98	119	N/A	INTRINSIC
coiled coil region	248	348	N/A	INTRINSIC
coiled coil region	499	547	N/A	INTRINSIC
Pfam:DUF3250	605	710	2.8e-46	PFAM
C2	753	858	1.08e-2	SMART
coiled coil region	899	988	N/A	INTRINSIC
Blast:C2	1151	1279	1e-37	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000181627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181862

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	G	A	8: 105,698,636	A355V	probably benign	Het
Adam9	A	G	8: 24,955,974	V801A	probably damaging	Het
Ankrd36	T	A	11: 5,614,619	V479D	possibly damaging	Het
Arid5a	C	T	1: 36,319,416	P423L	probably benign	Het
Atp13a4	T	C	16: 29,440,102	I650V	probably benign	Het
B4gat1	C	A	19: 5,039,127	P51T	possibly damaging	Het
Caskin2	G	A	11: 115,804,477	T310M	probably damaging	Het
Ccdc121	A	G	1: 181,510,434	S318P	possibly damaging	Het
Ccdc159	G	T	9: 21,929,373	V79L	possibly damaging	Het
Ccser2	A	T	14: 36,909,129	V18E	probably damaging	Het
Cct8l1	T	C	5: 25,517,583	V432A	probably benign	Het
Cdh11	A	T	8: 102,647,519	F529Y	probably benign	Het
Cep250	A	G	2: 155,990,328	E1370G	probably damaging	Het
Col22a1	C	A	15: 71,822,653	G717C	unknown	Het
Csmd2	T	C	4: 128,463,727		probably benign	Het
Ctrb1	A	C	8: 111,689,319		probably null	Het
Cyp2b19	T	C	7: 26,762,378	S208P	possibly damaging	Het
Dnmt3l	T	A	10: 78,052,738	I158N	possibly damaging	Het
Evi5l	T	C	8: 4,187,236		probably benign	Het
Fkbpl	A	G	17: 34,645,324	E22G	probably benign	Het
Flnb	T	A	14: 7,894,676	F825I	probably damaging	Het
Gjb6	A	T	14: 57,124,275	N176K	probably damaging	Het
Gpc2	G	T	5: 138,276,237		probably null	Het
H1fnt	T	C	15: 98,256,876	T131A	possibly damaging	Het
Il20	C	T	1: 130,909,576	C104Y	probably damaging	Het
Mgat5	A	G	1: 127,382,985	N212S	probably benign	Het
Olfm5	C	T	7: 104,154,401	G210D	probably damaging	Het
Olfr1226	T	A	2: 89,193,462	T191S	probably damaging	Het
Olfr1387	A	G	11: 49,459,957	S93G	probably benign	Het
Olig2	T	C	16: 91,226,658	S87P	probably benign	Het
Osbpl7	G	T	11: 97,056,124	A418S	probably benign	Het
Otog	G	T	7: 46,301,457	R2551L	probably benign	Het
Oxt	A	T	2: 130,576,280	N24I	probably damaging	Het
Pibf1	A	G	14: 99,210,983	Y626C	probably damaging	Het
Plekhh2	A	T	17: 84,589,466	K934*	probably null	Het
Pramef17	G	A	4: 143,992,021		probably benign	Het
Prdm9	A	T	17: 15,562,848	N57K	probably damaging	Het
Rapsn	A	G	2: 91,041,906	D195G	possibly damaging	Het
Rimbp3	T	G	16: 17,211,615	F968V	probably benign	Het
Slc35g1	C	T	19: 38,400,565	R107*	probably null	Het
Ssh2	A	C	11: 77,416,413		probably null	Het
Tiparp	C	A	3: 65,532,020	C70*	probably null	Het
Vmn2r110	A	G	17: 20,573,935	I824T	probably damaging	Het
Vmn2r78	T	C	7: 86,921,479	S402P	probably damaging	Het
Vps13c	A	G	9: 67,937,901	E2089G	probably benign	Het
Xirp2	A	T	2: 67,508,738	H441L	probably benign	Het
Zdhhc3	C	T	9: 123,100,477	G31D	probably benign	Het
Zfp330	A	G	8: 82,770,821	L64S	probably damaging	Het

Other mutations in Rpgrip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Rpgrip1	APN	14	52150438	splice site	probably null
IGL01016:Rpgrip1	APN	14	52145836	missense	probably damaging	1.00
IGL01019:Rpgrip1	APN	14	52131176	missense	possibly damaging	0.70
IGL01382:Rpgrip1	APN	14	52145477	missense	possibly damaging	0.93
IGL01433:Rpgrip1	APN	14	52126377	missense	probably damaging	1.00
IGL01528:Rpgrip1	APN	14	52112177	nonsense	probably null
IGL01548:Rpgrip1	APN	14	52126271	splice site	probably benign
IGL01652:Rpgrip1	APN	14	52145492	unclassified	probably benign
IGL02040:Rpgrip1	APN	14	52121019	missense	possibly damaging	0.86
IGL02113:Rpgrip1	APN	14	52133844	missense	possibly damaging	0.85
IGL02121:Rpgrip1	APN	14	52147374	missense	possibly damaging	0.89
IGL02185:Rpgrip1	APN	14	52112228	missense	possibly damaging	0.72
IGL02234:Rpgrip1	APN	14	52131309	splice site	probably benign
IGL02379:Rpgrip1	APN	14	52138888	missense	possibly damaging	0.53
IGL02524:Rpgrip1	APN	14	52121054	missense	probably benign	0.01
IGL02836:Rpgrip1	APN	14	52145257	splice site	probably null
IGL03264:Rpgrip1	APN	14	52140652	missense	possibly damaging	0.53
IGL03410:Rpgrip1	APN	14	52158366	unclassified	probably benign
FR4976:Rpgrip1	UTSW	14	52149394	utr 3 prime	probably benign
FR4976:Rpgrip1	UTSW	14	52149544	utr 3 prime	probably benign
R0045:Rpgrip1	UTSW	14	52141144	missense	possibly damaging	0.53
R0045:Rpgrip1	UTSW	14	52141144	missense	possibly damaging	0.53
R0089:Rpgrip1	UTSW	14	52149384	utr 3 prime	probably benign
R0498:Rpgrip1	UTSW	14	52131314	splice site	probably benign
R0602:Rpgrip1	UTSW	14	52133856	missense	possibly damaging	0.72
R0776:Rpgrip1	UTSW	14	52141169	missense	possibly damaging	0.85
R1139:Rpgrip1	UTSW	14	52147221	missense	probably benign	0.33
R1528:Rpgrip1	UTSW	14	52112224	missense	probably benign	0.01
R1715:Rpgrip1	UTSW	14	52140691	missense	possibly damaging	0.53
R1934:Rpgrip1	UTSW	14	52114644	missense	possibly damaging	0.53
R2087:Rpgrip1	UTSW	14	52136622	splice site	probably null
R2114:Rpgrip1	UTSW	14	52149567	missense	probably benign	0.27
R3406:Rpgrip1	UTSW	14	52145209	missense	possibly damaging	0.92
R3835:Rpgrip1	UTSW	14	52147253	missense	probably damaging	1.00
R4084:Rpgrip1	UTSW	14	52149351	missense	possibly damaging	0.72
R4124:Rpgrip1	UTSW	14	52152324	splice site	probably null
R4381:Rpgrip1	UTSW	14	52150449	missense	possibly damaging	0.54
R4407:Rpgrip1	UTSW	14	52147399	missense	probably damaging	1.00
R4520:Rpgrip1	UTSW	14	52152289	missense	probably benign	0.08
R4904:Rpgrip1	UTSW	14	52121087	missense	possibly damaging	0.86
R4904:Rpgrip1	UTSW	14	52160129	missense	probably damaging	0.97
R5284:Rpgrip1	UTSW	14	52149276	missense	probably damaging	1.00
R5342:Rpgrip1	UTSW	14	52145209	missense	possibly damaging	0.92
R5377:Rpgrip1	UTSW	14	52160195	missense	possibly damaging	0.96
R5499:Rpgrip1	UTSW	14	52140585	missense	probably benign	0.00
R5729:Rpgrip1	UTSW	14	52160160	missense	probably benign	0.28
R5834:Rpgrip1	UTSW	14	52158382	missense	probably damaging	0.99
R6157:Rpgrip1	UTSW	14	52112174	missense	probably benign	0.00
R6455:Rpgrip1	UTSW	14	52141189	missense	probably damaging	0.97
R6796:Rpgrip1	UTSW	14	52150012	missense	probably damaging	1.00
R7065:Rpgrip1	UTSW	14	52141193	missense	possibly damaging	0.96
R7173:Rpgrip1	UTSW	14	52112176	missense	possibly damaging	0.59
R7302:Rpgrip1	UTSW	14	52149555	missense	unknown
R7315:Rpgrip1	UTSW	14	52121001	missense	not run
R7320:Rpgrip1	UTSW	14	52131216	missense	possibly damaging	0.53
R7344:Rpgrip1	UTSW	14	52140659	missense	probably damaging	0.98
R7459:Rpgrip1	UTSW	14	52140559	missense	probably benign	0.18
R7797:Rpgrip1	UTSW	14	52133820	missense	possibly damaging	0.53
R7852:Rpgrip1	UTSW	14	52145880	missense	probably benign	0.01
R7916:Rpgrip1	UTSW	14	52131184	missense	possibly damaging	0.53
R7990:Rpgrip1	UTSW	14	52129518	missense	possibly damaging	0.53
R8041:Rpgrip1	UTSW	14	52119245	missense	possibly damaging	0.53
R8344:Rpgrip1	UTSW	14	52150362	missense	possibly damaging	0.62
R8403:Rpgrip1	UTSW	14	52152201	critical splice acceptor site	probably null
R8559:Rpgrip1	UTSW	14	52149257	missense	unknown
R8679:Rpgrip1	UTSW	14	52159395	missense	probably damaging	1.00
R8817:Rpgrip1	UTSW	14	52140599	missense	probably benign	0.33
R8890:Rpgrip1	UTSW	14	52145044	missense	possibly damaging	0.85
R9197:Rpgrip1	UTSW	14	52145400	missense	possibly damaging	0.51
RF028:Rpgrip1	UTSW	14	52149398	nonsense	probably null
RF034:Rpgrip1	UTSW	14	52149526	utr 3 prime	probably benign
RF035:Rpgrip1	UTSW	14	52149393	utr 3 prime	probably benign
RF036:Rpgrip1	UTSW	14	52149541	frame shift	probably null
RF040:Rpgrip1	UTSW	14	52149537	frame shift	probably null
RF043:Rpgrip1	UTSW	14	52149395	utr 3 prime	probably benign
X0024:Rpgrip1	UTSW	14	52141208	missense	possibly damaging	0.85
X0026:Rpgrip1	UTSW	14	52147221	missense	probably benign	0.33

Posted On

2015-04-16