Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03410:Rpgrip1'

421773

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

Is this an essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

IGL03410

Quality Score

Status

Chromosome

Chromosomal Location

52110704-52163546 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 52158366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046709] [ENSMUST00000111600] [ENSMUST00000111603] [ENSMUST00000180646] [ENSMUST00000181017] [ENSMUST00000181401]

AlphaFold

Q9EPQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000046709

SMART Domains

Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726

Domain	Start	End	E-Value	Type
FACT-Spt16_Nlob	5	168	2.95e-87	SMART
Pfam:Peptidase_M24	181	411	2.9e-35	PFAM
low complexity region	435	449	N/A	INTRINSIC
coiled coil region	462	493	N/A	INTRINSIC
SPT16	529	689	3.38e-96	SMART
Rtt106	806	896	1.61e-38	SMART
low complexity region	926	946	N/A	INTRINSIC
low complexity region	951	988	N/A	INTRINSIC
coiled coil region	994	1023	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000180500

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

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

probably benign
Transcript: ENSMUST00000181736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227577

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,001,896	V409E	probably damaging	Het
1700086D15Rik	A	G	11: 65,152,567		probably benign	Het
Apba1	A	G	19: 23,937,581	N715S	possibly damaging	Het
Arfgef3	G	T	10: 18,600,490	A1527D	probably damaging	Het
Cmtm2a	G	T	8: 104,283,869	P133T	probably damaging	Het
Cyp2d9	T	C	15: 82,456,699	V483A	probably benign	Het
Dclre1b	T	A	3: 103,808,140	D14V	probably damaging	Het
Dock5	T	C	14: 67,846,086	I125V	probably benign	Het
Dok3	G	T	13: 55,524,231	Y211*	probably null	Het
Fat4	T	C	3: 38,891,176	V1406A	probably damaging	Het
Fbn2	A	G	18: 58,050,243	F1790S	possibly damaging	Het
Gm13083	C	A	4: 143,615,281	H93Q	probably benign	Het
Gm4787	A	T	12: 81,379,174	M70K	probably damaging	Het
Gulp1	A	T	1: 44,708,617	D10V	probably damaging	Het
Hagh	T	C	17: 24,860,942		probably benign	Het
Htt	A	G	5: 34,799,445	E206G	probably damaging	Het
Hyou1	A	G	9: 44,388,058	E682G	probably benign	Het
Igkv4-59	G	T	6: 69,438,466	A35E	probably damaging	Het
Krt78	A	G	15: 101,953,986	V80A	probably damaging	Het
Lars2	G	A	9: 123,418,776	A333T	possibly damaging	Het
Lrrc4	G	A	6: 28,830,516	R367W	probably damaging	Het
Med1	A	T	11: 98,189,183	M44K	possibly damaging	Het
Mep1a	T	A	17: 43,478,095		probably null	Het
Mmrn1	A	G	6: 60,975,835	I367V	probably benign	Het
Myo18a	T	C	11: 77,848,004	L1677P	probably damaging	Het
Neb	T	C	2: 52,319,705	T246A	probably benign	Het
Nkiras1	A	G	14: 18,280,073	R155G	probably benign	Het
Nrip1	T	C	16: 76,292,491	N726S	probably benign	Het
Nyap2	A	G	1: 81,241,441	T393A	possibly damaging	Het
Olfr1029	T	A	2: 85,975,420	M59K	probably damaging	Het
Olfr1272	A	G	2: 90,282,213	Y121H	probably damaging	Het
Olfr32	G	A	2: 90,139,145		probably benign	Het
Oprm1	A	T	10: 6,830,051	I238F	probably damaging	Het
Pcnx2	T	A	8: 125,887,040	E557D	probably damaging	Het
Pole	A	G	5: 110,324,559	I1563V	probably benign	Het
Prdx3	T	G	19: 60,871,410		probably benign	Het
Rgsl1	C	T	1: 153,793,755	R295K	probably null	Het
Rhbdl2	T	A	4: 123,829,670	L289*	probably null	Het
Rnps1	A	G	17: 24,421,861		probably benign	Het
Ryr2	A	T	13: 11,588,147	Y4518N	probably damaging	Het
Scyl3	A	G	1: 163,944,867	N296S	probably damaging	Het
Sipa1l3	G	A	7: 29,348,539	T1308M	probably damaging	Het
Slc39a9	A	G	12: 80,644,888	D3G	probably damaging	Het
Slc4a9	A	G	18: 36,529,687	E165G	probably benign	Het
Slc6a3	A	T	13: 73,538,657	I48F	probably benign	Het
Stxbp3	C	T	3: 108,802,160	C354Y	probably damaging	Het
Terb1	C	A	8: 104,473,042		probably benign	Het
Tfrc	G	A	16: 32,624,831		probably null	Het
Toporsl	A	C	4: 52,611,134	R342S	probably benign	Het
Ttc26	T	C	6: 38,385,500	L70P	probably damaging	Het
Ube2d3	T	A	3: 135,465,217	W141R	probably damaging	Het
Vps13b	G	T	15: 35,910,340	V3417L	probably benign	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
IGL02322:Rpgrip1	APN	14	52150042	missense	possibly damaging	0.89
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
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

2016-08-02