Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02234:Rpgrip1'

285865

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, nmf247, 4930401L23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

IGL02234

Quality Score

Status

Chromosome

Chromosomal Location

52348161-52401003 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 52368766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9EPQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000111600

SMART Domains

Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132

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

probably benign
Transcript: ENSMUST00000111603

SMART Domains

Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132

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

unknown
Transcript: ENSMUST00000180646
AA Change: N278D

SMART Domains

Protein: ENSMUSP00000137751
Gene: ENSMUSG00000057132
AA Change: N278D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000181401

SMART Domains

Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132

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

noncoding transcript
Transcript: ENSMUST00000181673

Predicted Effect

probably benign
Transcript: ENSMUST00000181709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181823

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,645,179 (GRCm39)	T1010M	possibly damaging	Het
Atr	A	G	9: 95,829,303 (GRCm39)		probably benign	Het
Cdc42bpa	A	T	1: 179,978,756 (GRCm39)	K1585*	probably null	Het
Cdh19	T	C	1: 110,859,956 (GRCm39)	D175G	probably damaging	Het
Celsr3	G	T	9: 108,707,159 (GRCm39)	R1214L	probably benign	Het
Chchd1	T	C	14: 20,753,478 (GRCm39)		probably null	Het
Col4a1	T	C	8: 11,266,713 (GRCm39)	K1165E	probably damaging	Het
Col6a4	A	G	9: 105,890,631 (GRCm39)	F1888L	possibly damaging	Het
Csmd3	C	A	15: 47,811,512 (GRCm39)	R1193L	probably damaging	Het
Cyp2d11	T	A	15: 82,274,340 (GRCm39)	H347L	probably benign	Het
Cyp4f13	A	G	17: 33,143,748 (GRCm39)		probably benign	Het
Dop1b	T	C	16: 93,549,039 (GRCm39)	V193A	probably benign	Het
Dus4l	T	C	12: 31,691,495 (GRCm39)		probably benign	Het
Epc1	G	A	18: 6,439,938 (GRCm39)	H79Y	probably damaging	Het
Gm12588	T	A	11: 121,799,151 (GRCm39)			Het
Gpr107	T	C	2: 31,067,845 (GRCm39)	Y222H	probably damaging	Het
Gzmn	C	T	14: 56,406,464 (GRCm39)		probably null	Het
Helq	A	G	5: 100,944,336 (GRCm39)	I258T	possibly damaging	Het
Hsp90ab1	T	C	17: 45,880,661 (GRCm39)	K137R	probably benign	Het
Htr1f	T	A	16: 64,746,430 (GRCm39)	R287S	probably damaging	Het
Il20ra	A	C	10: 19,625,018 (GRCm39)	D99A	probably damaging	Het
Lpp	C	T	16: 24,580,895 (GRCm39)	R204W	probably damaging	Het
Mboat7	A	G	7: 3,694,350 (GRCm39)	Y34H	probably damaging	Het
Mid2	T	C	X: 139,664,418 (GRCm39)	S646P	probably damaging	Het
Msh6	T	C	17: 88,294,229 (GRCm39)	S995P	probably damaging	Het
Mtmr10	A	G	7: 63,949,350 (GRCm39)	I108V	probably benign	Het
Muc6	G	A	7: 141,226,842 (GRCm39)	T1395M	probably benign	Het
Nlrp4f	A	G	13: 65,342,302 (GRCm39)	F448L	probably damaging	Het
Odc1	C	A	12: 17,598,621 (GRCm39)	D220E	possibly damaging	Het
Or8k33	T	C	2: 86,383,610 (GRCm39)	N286S	probably damaging	Het
Pax7	A	G	4: 139,555,901 (GRCm39)	I189T	probably damaging	Het
Pcdh12	T	A	18: 38,416,588 (GRCm39)	H179L	probably damaging	Het
Pcdh15	A	T	10: 74,467,694 (GRCm39)	M1836L	probably benign	Het
Psmc5	T	C	11: 106,153,836 (GRCm39)	V390A	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sema5a	C	T	15: 32,679,318 (GRCm39)	R866C	probably damaging	Het
Stox2	A	G	8: 47,646,647 (GRCm39)	F271S	probably damaging	Het
Tpgs2	T	C	18: 25,282,301 (GRCm39)		probably null	Het
Ttll8	T	A	15: 88,798,252 (GRCm39)	I828F	possibly damaging	Het
Vmn1r7	T	C	6: 57,001,537 (GRCm39)	Y241C	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Rpgrip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Rpgrip1	APN	14	52,387,895 (GRCm39)	splice site	probably null
IGL01016:Rpgrip1	APN	14	52,383,293 (GRCm39)	missense	probably damaging	1.00
IGL01019:Rpgrip1	APN	14	52,368,633 (GRCm39)	missense	possibly damaging	0.70
IGL01382:Rpgrip1	APN	14	52,382,934 (GRCm39)	missense	possibly damaging	0.93
IGL01433:Rpgrip1	APN	14	52,363,834 (GRCm39)	missense	probably damaging	1.00
IGL01528:Rpgrip1	APN	14	52,349,634 (GRCm39)	nonsense	probably null
IGL01548:Rpgrip1	APN	14	52,363,728 (GRCm39)	splice site	probably benign
IGL01652:Rpgrip1	APN	14	52,382,949 (GRCm39)	unclassified	probably benign
IGL02040:Rpgrip1	APN	14	52,358,476 (GRCm39)	missense	possibly damaging	0.86
IGL02113:Rpgrip1	APN	14	52,371,301 (GRCm39)	missense	possibly damaging	0.85
IGL02121:Rpgrip1	APN	14	52,384,831 (GRCm39)	missense	possibly damaging	0.89
IGL02185:Rpgrip1	APN	14	52,349,685 (GRCm39)	missense	possibly damaging	0.72
IGL02322:Rpgrip1	APN	14	52,387,499 (GRCm39)	missense	possibly damaging	0.89
IGL02379:Rpgrip1	APN	14	52,376,345 (GRCm39)	missense	possibly damaging	0.53
IGL02524:Rpgrip1	APN	14	52,358,511 (GRCm39)	missense	probably benign	0.01
IGL02836:Rpgrip1	APN	14	52,382,714 (GRCm39)	splice site	probably null
IGL03264:Rpgrip1	APN	14	52,378,109 (GRCm39)	missense	possibly damaging	0.53
IGL03410:Rpgrip1	APN	14	52,395,823 (GRCm39)	unclassified	probably benign
FR4976:Rpgrip1	UTSW	14	52,387,001 (GRCm39)	utr 3 prime	probably benign
FR4976:Rpgrip1	UTSW	14	52,386,851 (GRCm39)	utr 3 prime	probably benign
R0045:Rpgrip1	UTSW	14	52,378,601 (GRCm39)	missense	possibly damaging	0.53
R0045:Rpgrip1	UTSW	14	52,378,601 (GRCm39)	missense	possibly damaging	0.53
R0089:Rpgrip1	UTSW	14	52,386,841 (GRCm39)	utr 3 prime	probably benign
R0498:Rpgrip1	UTSW	14	52,368,771 (GRCm39)	splice site	probably benign
R0602:Rpgrip1	UTSW	14	52,371,313 (GRCm39)	missense	possibly damaging	0.72
R0776:Rpgrip1	UTSW	14	52,378,626 (GRCm39)	missense	possibly damaging	0.85
R1139:Rpgrip1	UTSW	14	52,384,678 (GRCm39)	missense	probably benign	0.33
R1528:Rpgrip1	UTSW	14	52,349,681 (GRCm39)	missense	probably benign	0.01
R1715:Rpgrip1	UTSW	14	52,378,148 (GRCm39)	missense	possibly damaging	0.53
R1934:Rpgrip1	UTSW	14	52,352,101 (GRCm39)	missense	possibly damaging	0.53
R2087:Rpgrip1	UTSW	14	52,374,079 (GRCm39)	splice site	probably null
R2114:Rpgrip1	UTSW	14	52,387,024 (GRCm39)	missense	probably benign	0.27
R3406:Rpgrip1	UTSW	14	52,382,666 (GRCm39)	missense	possibly damaging	0.92
R3835:Rpgrip1	UTSW	14	52,384,710 (GRCm39)	missense	probably damaging	1.00
R4084:Rpgrip1	UTSW	14	52,386,808 (GRCm39)	missense	possibly damaging	0.72
R4124:Rpgrip1	UTSW	14	52,389,781 (GRCm39)	splice site	probably null
R4381:Rpgrip1	UTSW	14	52,387,906 (GRCm39)	missense	possibly damaging	0.54
R4407:Rpgrip1	UTSW	14	52,384,856 (GRCm39)	missense	probably damaging	1.00
R4520:Rpgrip1	UTSW	14	52,389,746 (GRCm39)	missense	probably benign	0.08
R4904:Rpgrip1	UTSW	14	52,358,544 (GRCm39)	missense	possibly damaging	0.86
R4904:Rpgrip1	UTSW	14	52,397,586 (GRCm39)	missense	probably damaging	0.97
R5284:Rpgrip1	UTSW	14	52,386,733 (GRCm39)	missense	probably damaging	1.00
R5342:Rpgrip1	UTSW	14	52,382,666 (GRCm39)	missense	possibly damaging	0.92
R5377:Rpgrip1	UTSW	14	52,397,652 (GRCm39)	missense	possibly damaging	0.96
R5499:Rpgrip1	UTSW	14	52,378,042 (GRCm39)	missense	probably benign	0.00
R5729:Rpgrip1	UTSW	14	52,397,617 (GRCm39)	missense	probably benign	0.28
R5834:Rpgrip1	UTSW	14	52,395,839 (GRCm39)	missense	probably damaging	0.99
R6157:Rpgrip1	UTSW	14	52,349,631 (GRCm39)	missense	probably benign	0.00
R6455:Rpgrip1	UTSW	14	52,378,646 (GRCm39)	missense	probably damaging	0.97
R6796:Rpgrip1	UTSW	14	52,387,469 (GRCm39)	missense	probably damaging	1.00
R7065:Rpgrip1	UTSW	14	52,378,650 (GRCm39)	missense	possibly damaging	0.96
R7173:Rpgrip1	UTSW	14	52,349,633 (GRCm39)	missense	possibly damaging	0.59
R7302:Rpgrip1	UTSW	14	52,387,012 (GRCm39)	missense	unknown
R7315:Rpgrip1	UTSW	14	52,358,458 (GRCm39)	missense	not run
R7320:Rpgrip1	UTSW	14	52,368,673 (GRCm39)	missense	possibly damaging	0.53
R7344:Rpgrip1	UTSW	14	52,378,116 (GRCm39)	missense	probably damaging	0.98
R7459:Rpgrip1	UTSW	14	52,378,016 (GRCm39)	missense	probably benign	0.18
R7797:Rpgrip1	UTSW	14	52,371,277 (GRCm39)	missense	possibly damaging	0.53
R7852:Rpgrip1	UTSW	14	52,383,337 (GRCm39)	missense	probably benign	0.01
R7916:Rpgrip1	UTSW	14	52,368,641 (GRCm39)	missense	possibly damaging	0.53
R7990:Rpgrip1	UTSW	14	52,366,975 (GRCm39)	missense	possibly damaging	0.53
R8041:Rpgrip1	UTSW	14	52,356,702 (GRCm39)	missense	possibly damaging	0.53
R8344:Rpgrip1	UTSW	14	52,387,819 (GRCm39)	missense	possibly damaging	0.62
R8403:Rpgrip1	UTSW	14	52,389,658 (GRCm39)	critical splice acceptor site	probably null
R8559:Rpgrip1	UTSW	14	52,386,714 (GRCm39)	missense	unknown
R8679:Rpgrip1	UTSW	14	52,396,852 (GRCm39)	missense	probably damaging	1.00
R8817:Rpgrip1	UTSW	14	52,378,056 (GRCm39)	missense	probably benign	0.33
R8890:Rpgrip1	UTSW	14	52,382,501 (GRCm39)	missense	possibly damaging	0.85
R9197:Rpgrip1	UTSW	14	52,382,857 (GRCm39)	missense	possibly damaging	0.51
RF028:Rpgrip1	UTSW	14	52,386,855 (GRCm39)	nonsense	probably null
RF034:Rpgrip1	UTSW	14	52,386,983 (GRCm39)	utr 3 prime	probably benign
RF035:Rpgrip1	UTSW	14	52,386,850 (GRCm39)	utr 3 prime	probably benign
RF036:Rpgrip1	UTSW	14	52,386,998 (GRCm39)	frame shift	probably null
RF040:Rpgrip1	UTSW	14	52,386,994 (GRCm39)	frame shift	probably null
RF043:Rpgrip1	UTSW	14	52,386,852 (GRCm39)	utr 3 prime	probably benign
X0024:Rpgrip1	UTSW	14	52,378,665 (GRCm39)	missense	possibly damaging	0.85
X0026:Rpgrip1	UTSW	14	52,384,678 (GRCm39)	missense	probably benign	0.33

Posted On

2015-04-16