Mutagenetix > Incidental Mutation

Incidental Mutation 'R6455:Rpgrip1'

519572

Institutional Source

Beutler Lab

Gene Symbol

Rpgrip1

Ensembl Gene

ENSMUSG00000057132

Gene Name

retinitis pigmentosa GTPase regulator interacting protein 1

Synonyms

A930002K18Rik, 4930505G06Rik, 4930401L23Rik, nmf247

MMRRC Submission

044591-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R6455 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52110704-52163546 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52141189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 524 (R524W)

Ref Sequence

ENSEMBL: ENSMUSP00000138027 (fasta)

Gene Model

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

AlphaFold

Q9EPQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000111600
AA Change: R524W

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
AA Change: R524W

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 damaging
Transcript: ENSMUST00000111603
AA Change: R524W

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
AA Change: R524W

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: 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

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

probably damaging
Transcript: ENSMUST00000181401
AA Change: R524W

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
AA Change: R524W

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

probably benign
Transcript: ENSMUST00000181709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181823

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

96% (70/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110F15Rik	T	A	9: 35,844,055	K3*	probably null	Het
A430078G23Rik	A	T	8: 3,388,753	Y370F	probably benign	Het
Abca1	T	C	4: 53,042,376	R1899G	probably damaging	Het
Abca6	C	T	11: 110,241,581	G296D	probably damaging	Het
Abcb5	A	T	12: 118,890,549		probably null	Het
Adam28	T	G	14: 68,633,208	T339P	probably damaging	Het
Adcy10	C	G	1: 165,518,374	Q331E	probably damaging	Het
Aldh1a2	A	T	9: 71,252,914		probably null	Het
Alms1	T	A	6: 85,696,657	I3078N	probably damaging	Het
Amtn	A	T	5: 88,380,280	N71Y	probably damaging	Het
Arid4a	T	C	12: 71,075,088	S748P	probably benign	Het
Atp2b1	C	A	10: 99,016,980	Q108K	possibly damaging	Het
Bcdin3d	T	C	15: 99,470,949	D123G	probably benign	Het
Capn15	A	G	17: 25,965,436	S24P	probably damaging	Het
Cc2d2a	T	A	5: 43,739,412	S1550R	possibly damaging	Het
Ccdc7a	C	T	8: 128,832,610	V1174M	probably damaging	Het
Cd22	T	A	7: 30,876,153	I155F	probably damaging	Het
Ceacam3	T	C	7: 17,161,938	I611T	possibly damaging	Het
Chrna1	C	T	2: 73,566,836	D370N	possibly damaging	Het
Diexf	G	T	1: 193,128,376	D106E	probably benign	Het
Dlg2	C	A	7: 92,444,508		probably null	Het
Dll4	A	T	2: 119,333,795		probably null	Het
Eif5b	T	C	1: 38,019,027	S137P	probably benign	Het
Epn2	A	T	11: 61,533,641	M250K	probably damaging	Het
Fat2	T	A	11: 55,270,457	Q3149L	probably damaging	Het
Fbxl13	G	A	5: 21,556,814	S341F	probably benign	Het
Gm15922	T	A	7: 3,738,931	Y150F	probably benign	Het
Gm5141	A	T	13: 62,774,783	C191S	probably damaging	Het
Gm5150	C	T	3: 15,990,651	G137S	probably damaging	Het
Gm5346	T	A	8: 43,626,152	H345L	probably damaging	Het
Gpr75	C	T	11: 30,891,529	R145W	probably damaging	Het
Heatr5b	G	A	17: 78,753,073	H2058Y	probably benign	Het
Ina	G	A	19: 47,023,561	E473K	probably benign	Het
Irx6	T	C	8: 92,676,072	S22P	probably benign	Het
Itpr1	T	A	6: 108,417,972	M32K	probably damaging	Het
Jmjd1c	T	A	10: 67,226,016	S1383T	probably benign	Het
Lclat1	T	A	17: 73,161,833	S3T	probably damaging	Het
Llgl1	G	A	11: 60,709,660	V612M	probably damaging	Het
Mios	A	G	6: 8,231,239	R708G	probably benign	Het
Mphosph8	T	C	14: 56,688,486	L636P	probably damaging	Het
Mrgpra2b	T	A	7: 47,464,145	N254Y	probably damaging	Het
Myo7a	C	T	7: 98,073,167	V1184M	probably benign	Het
Myog	G	A	1: 134,290,488	D145N	probably benign	Het
Nat10	T	A	2: 103,739,886	I371F	possibly damaging	Het
Neb	A	T	2: 52,167,644	Y229*	probably null	Het
Nlrp6	T	A	7: 140,927,509	I896K	possibly damaging	Het
Olfr235	T	C	19: 12,268,706	S159P	probably damaging	Het
Olfr551	G	A	7: 102,588,671	A24V	probably benign	Het
Olfr740	A	T	14: 50,453,585	I178L	possibly damaging	Het
Pcdhgc5	A	C	18: 37,821,248	E525A	probably damaging	Het
Pkd2	C	A	5: 104,459,924	D96E	probably benign	Het
Prtg	A	G	9: 72,907,856	D1022G	probably damaging	Het
Ptpn13	T	C	5: 103,541,284	M981T	probably benign	Het
Rc3h2	C	A	2: 37,409,470	A183S	probably damaging	Het
Rorb	A	T	19: 18,960,492	I270N	probably damaging	Het
Slc25a10	T	C	11: 120,495,205	V124A	probably damaging	Het
Slc40a1	T	A	1: 45,918,947	I109F	probably damaging	Het
Spen	G	A	4: 141,475,509	R1936W	probably damaging	Het
St6gal2	T	A	17: 55,482,513	Y183N	probably benign	Het
Svil	A	G	18: 5,056,629	K588E	possibly damaging	Het
Tas2r122	C	T	6: 132,711,663	W89*	probably null	Het
Tbxas1	T	A	6: 38,952,145		probably benign	Het
Tia1	T	A	6: 86,420,378	I111N	probably damaging	Het
Tlr9	T	A	9: 106,223,999	L163H	probably damaging	Het
Tnn	C	T	1: 160,114,719	V806M	probably damaging	Het
Traf5	G	A	1: 191,999,926	A318V	probably benign	Het
Ttc3	T	A	16: 94,418,623	M1K	probably null	Het
Vmn1r192	T	A	13: 22,187,830	R73S	probably benign	Het
Vmn1r71	T	C	7: 10,748,404	Y53C	probably benign	Het
Vmn2r34	T	A	7: 7,683,583	N372Y	probably damaging	Het
Wbp2	A	T	11: 116,079,753	S229R	probably damaging	Het
Wdr18	C	T	10: 79,965,281	T176I	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGAGGAGGTCATCAATCTTC -3'
(R):5'- CTGCCCTGTGGAAATTCTCC -3'

Sequencing Primer
(F):5'- GAGGAGGTCATCAATCTTCCTACTC -3'
(R):5'- AAATCAGAGATTTGCACTGAGC -3'

Posted On

2018-05-24