Mutagenetix > Incidental Mutation

Incidental Mutation 'RF043:Rpgrip1'

604932

Institutional Source

Beutler Lab

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 #

RF043 (G1)

Quality Score

112.494

Status

Not validated

Chromosome

Chromosomal Location

52110704-52163546 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

GAG to GAGAAG at 52149395 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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

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

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: ENSMUST00000181627

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc2	GCGGCGGCGGCGAC	GC	2: 25,272,561		probably benign	Het
Ankhd1	CGGCGG	CGGCGGTGGCGG	18: 36,560,917		probably benign	Het
Btnl10	CAAA	CAAAAAA	11: 58,923,926		probably benign	Het
Cpne1	TCCAC	TC	2: 156,073,510		probably benign	Het
Cyb5r4	ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,411		probably benign	Het
Cyb5r4	AGACACACTGCCCAGGGA	AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA	9: 87,040,431		probably benign	Het
Dbr1	GAGGAG	GAGGAGCAGGAG	9: 99,583,697		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,485,833		probably benign	Het
Emid1	G	T	11: 5,144,322	P63Q	probably damaging	Het
Gabre	GCTCCG	GCTCCGACTCCG	X: 72,270,048		probably benign	Het
Gar1	AACTGCC	A	3: 129,830,688		probably benign	Het
Gm10181	GAGAGAGAGAGAGA	G	9: 25,089,459		probably null	Het
Hic1	GGGA	G	11: 75,169,455		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,125,842		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT	9: 106,570,613		probably benign	Het
Krtap4-2	AGGGGCGGCAGC	A	11: 99,634,721		probably null	Het
Lmx1b	CATCTTGATGCCGTCCAA	CA	2: 33,640,509		probably null	Het
Lrch1	TGGTGGTG	T	14: 74,947,575		probably null	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790		probably benign	Het
Lypd8	CA	CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA	11: 58,390,243		probably benign	Het
Mamld1	AGC	AGCTGC	X: 71,118,835		probably benign	Het
Mrgprx1	GAAC	GAACAAC	7: 48,021,509		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	11: 4,941,016		probably benign	Het
Nusap1	AGTGAGGAGCAAGCTGAGA	AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA	2: 119,627,592		probably benign	Het
P4ha2	GGTGTTG	GG	11: 54,110,250		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Het
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858		probably benign	Het
Ptms	TCCTCCTC	TCCTCCTCCTC	6: 124,914,448		probably benign	Het
Rassf6	AATGGGGATTC	AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC	5: 90,608,932		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939		probably benign	Het
Rgs22	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAA	15: 36,010,836		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCGCTC	12: 26,314,014		probably benign	Het
Sgpp1	ACACAC	A	12: 75,722,625		probably null	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC	15: 76,614,870		probably benign	Het
Spaca1	TCTCGC	TCTCGCGCTCGC	4: 34,049,846		probably benign	Het
Stard8	GGA	GGATGA	X: 99,066,520		probably benign	Het
Stard8	GA	GAGCA	X: 99,066,527		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC	18: 60,833,572		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,616,036		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Tmed6	AGC	AGCTCGC	8: 107,061,596		probably null	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,305		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,825,731		probably null	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
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
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'- TCTCAGGTGATTTCAATCTCACAG -3'
(R):5'- TCTTCCGTGAATGAGGCCTC -3'

Sequencing Primer
(F):5'- TTCAATCTCACAGACTCTGGGGAG -3'
(R):5'- TGAATGAGGCCTCCAGGAC -3'

Posted On

2019-12-04