Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4976:Rpgrip1'

511938

Institutional Source

Beutler Lab

Gene Symbol

Rpgrip1

Ensembl Gene

ENSMUSG00000057132

Gene Name

retinitis pigmentosa GTPase regulator interacting protein 1

Synonyms

A930002K18Rik, 4930505G06Rik, nmf247, 4930401L23Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

FR4976 ()

Quality Score

141.467

Status

Not validated

Chromosome

Chromosomal Location

52348161-52401003 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

GGA to GGATGA at 52386851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000181823

Predicted Effect

probably benign
Transcript: ENSMUST00000181627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181862

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 96.9%

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: 221 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TTC	TTCATC	12: 110,634,881 (GRCm39)		probably benign	Het
1700001K19Rik	TTC	TTCGTC	12: 110,634,884 (GRCm39)		probably benign	Het
Abt1	TTCTTGCT	TT	13: 23,607,881 (GRCm39)		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,475,257 (GRCm39)		probably benign	Het
Akap12	AAA	AAACAA	10: 4,303,837 (GRCm39)		probably benign	Het
Alg1	GCTCACTCAC	GCTCAC	16: 5,062,425 (GRCm39)		probably null	Homo
Alg9	G	GCGA	9: 50,686,731 (GRCm39)		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,738,920 (GRCm39)		probably benign	Het
Anapc2	TGGCGGTGGCGGCGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGGCGG	2: 25,162,544 (GRCm39)		probably benign	Het
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Homo
Apc	AATAAAGC	AATAAAGCCTATAAAGC	18: 34,415,053 (GRCm39)		probably benign	Het
Apc	CCAATAAAG	CCAATAAAGTCAATAAAG	18: 34,415,051 (GRCm39)		probably benign	Het
Apc	AAGC	AAGCCAATATAGC	18: 34,415,057 (GRCm39)		probably null	Het
Atad3a	C	A	4: 155,838,396 (GRCm39)	R207L	probably damaging	Homo
Blm	ACCT	ACCTCCCT	7: 80,113,515 (GRCm39)		probably benign	Homo
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,655 (GRCm39)		probably benign	Het
Bmp5	GAGGAGT	G	9: 75,683,657 (GRCm39)		probably benign	Homo
Bpifa6	A	T	2: 153,828,296 (GRCm39)	Q134L	probably benign	Homo
Bpifa6	A	T	2: 153,828,318 (GRCm39)	R141S	probably benign	Homo
Btnl10	AGA	AGAGGA	11: 58,814,755 (GRCm39)		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 85,365,346 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCTCC	8: 85,365,355 (GRCm39)		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGCGGCTGTGGCTG	19: 47,129,701 (GRCm39)		probably benign	Het
Catsper2	TGTC	TGTCGTC	2: 121,228,260 (GRCm39)		probably benign	Homo
Catsper2	C	CTTTTACTTTTTT	2: 121,228,023 (GRCm39)		probably benign	Homo
Catsper2	ATCGTCGTCGTC	ATCGTCGTCGTCGTC	2: 121,228,276 (GRCm39)		probably benign	Het
Catsper2	CAT	CATTAT	2: 121,228,263 (GRCm39)		probably benign	Het
Ccdc170	ACCGCC	ACCGCCGCC	10: 4,511,008 (GRCm39)		probably benign	Het
Ccdc170	AC	ACCTC	10: 4,511,029 (GRCm39)		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,511,023 (GRCm39)		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,168,766 (GRCm39)		probably benign	Het
Cdx1	GGGCTGC	GGGCTGCGGCTGC	18: 61,152,939 (GRCm39)		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,152,941 (GRCm39)		probably benign	Het
Cep112	G	GCTCT	11: 108,316,178 (GRCm39)		probably benign	Het
Cep89	GACT	G	7: 35,109,066 (GRCm39)		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,218,846 (GRCm39)		probably benign	Homo
Chd4	GC	GCTCCCTC	6: 125,099,094 (GRCm39)		probably benign	Homo
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,560,346 (GRCm39)		probably benign	Het
Cnpy3	CCT	CCTACT	17: 47,047,673 (GRCm39)		probably null	Het
Cntnap1	CCCAGC	CCCAGCACCAGC	11: 101,080,398 (GRCm39)		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,080,411 (GRCm39)		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,080,414 (GRCm39)		probably benign	Het
Cntnap1	A	ACCCCCC	11: 101,080,395 (GRCm39)		probably benign	Het
Col4a3	CGTTTTTTTTTTTTTTTT	C	1: 82,696,627 (GRCm39)		probably null	Het
Cpne1	AGA	AGAGAGA	2: 155,913,945 (GRCm39)		probably null	Homo
Cracdl	C	A	1: 37,664,117 (GRCm39)	E594*	probably null	Homo
Cracdl	A	G	1: 37,664,183 (GRCm39)	S47P	probably damaging	Homo
Cracdl	T	A	1: 37,664,116 (GRCm39)	E594V	probably benign	Homo
Ctsm	AGTG	AGTGGGTG	13: 61,685,650 (GRCm39)		probably null	Homo
Cttnbp2	GCTGCT	GCTGCTTCTGCT	6: 18,367,466 (GRCm39)		probably benign	Het
Cttnbp2	GCTGCT	GCTGCTCCTGCT	6: 18,367,460 (GRCm39)		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,811,776 (GRCm39)		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,811,779 (GRCm39)		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,811,782 (GRCm39)		probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,811,774 (GRCm39)		probably benign	Het
Cybrd1	GAAT	G	2: 70,968,855 (GRCm39)		probably benign	Homo
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,465,742 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,465,745 (GRCm39)		probably benign	Het
Dbr1	AGG	AGGAGGCGG	9: 99,465,754 (GRCm39)		probably benign	Het
Dbr1	GG	GGAGGAAG	9: 99,465,755 (GRCm39)		probably benign	Het
Dcaf8	C	T	1: 172,000,423 (GRCm39)	H194Y	probably damaging	Homo
Dennd10	ACTC	ACTCCTC	19: 60,803,056 (GRCm39)		probably benign	Homo
Dennd10	T	TTCA	19: 60,803,060 (GRCm39)		probably benign	Homo
Dnaaf9	C	CTCG	2: 130,612,673 (GRCm39)		probably benign	Het
Dnaaf9	TCC	TCCCCC	2: 130,612,659 (GRCm39)		probably benign	Het
Dnaaf9	TCC	TCCACC	2: 130,612,662 (GRCm39)		probably benign	Het
Dnajc19	AC	ACGC	3: 34,112,143 (GRCm39)		probably null	Het
Dthd1	GAC	GACTAC	5: 63,000,367 (GRCm39)		probably benign	Homo
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Homo
Eif3a	A	ATTTTT	19: 60,763,729 (GRCm39)		probably benign	Homo
Ermn	CTT	CTTGTT	2: 57,938,092 (GRCm39)		probably benign	Het
Ermn	TC	TCTAC	2: 57,938,100 (GRCm39)		probably benign	Het
Fbxo38	TGCAGC	TGC	18: 62,648,418 (GRCm39)		probably benign	Het
Frem3	CT	CTTGT	8: 81,341,870 (GRCm39)		probably benign	Homo
Fsip2	TT	TTTTTCT	2: 82,814,709 (GRCm39)		probably benign	Het
Fsip2	TTTTT	TTTTTGTTTT	2: 82,814,706 (GRCm39)		probably benign	Het
Gabre	T	TGAGGCC	X: 71,314,028 (GRCm39)		probably benign	Homo
Gabre	AGGCT	AGGCTGCGGCT	X: 71,314,024 (GRCm39)		probably benign	Homo
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Homo
Gm14393	T	G	2: 174,903,613 (GRCm39)	N98T	probably benign	Het
Gm16503	G	A	4: 147,625,710 (GRCm39)	G68E	unknown	Het
Gm28040	TG	TGGCACCTTTCGAG	1: 133,255,061 (GRCm39)		probably benign	Homo
Gm4340	AGC	AGCCGC	10: 104,031,940 (GRCm39)		probably benign	Het
Gm6309	C	T	5: 146,104,993 (GRCm39)	V307I	probably benign	Het
Golga5	G	A	12: 102,441,919 (GRCm39)		probably null	Homo
Gpatch11	AGGAA	AGGAAGTGGAA	17: 79,149,609 (GRCm39)		probably benign	Het
Gpatch11	GAGGAA	GAGGAATAGGAA	17: 79,149,602 (GRCm39)		probably null	Het
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 79,149,601 (GRCm39)		probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 79,149,600 (GRCm39)		probably benign	Het
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 79,149,599 (GRCm39)		probably benign	Het
H2-K2	GTTT	G	17: 34,216,016 (GRCm39)		probably benign	Homo
Hcn1	GCAGC	GCAGCGACAGC	13: 118,112,344 (GRCm39)		probably benign	Homo
Hoxa10	T	A	6: 52,211,166 (GRCm39)	Q250L	possibly damaging	Homo
Igf1r	C	CTGGAGATGGAGA	7: 67,875,934 (GRCm39)		probably benign	Het
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 67,875,929 (GRCm39)		probably benign	Het
Il17rd	CGG	CGGTGG	14: 26,804,634 (GRCm39)		probably benign	Het
Il2	GG	GGGGCTTGAAGTAG	3: 37,179,978 (GRCm39)		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,314,019 (GRCm39)		probably benign	Het
Iqcc	T	TGTCAGCCTCCTTGTACCC	4: 129,510,469 (GRCm39)		probably benign	Het
Irag2	CACATTG	CACATTGAGGACATTG	6: 145,119,511 (GRCm39)		probably benign	Homo
Isg20l2	AAG	AAGTAG	3: 87,839,022 (GRCm39)		probably null	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Homo
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,285,791 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,285,798 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,785 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,285,789 (GRCm39)		probably null	Het
Kmt2b	CTCCTC	CTCCTCGTCCTC	7: 30,285,787 (GRCm39)		probably benign	Het
Kmt2c	TGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	5: 25,520,761 (GRCm39)		probably benign	Homo
Krtap9-3	AC	ACAGGTGCCTC	11: 99,488,830 (GRCm39)		probably benign	Homo
Las1l	AGG	AGGGGG	X: 94,984,433 (GRCm39)		probably benign	Het
Las1l	A	AGGC	X: 94,984,439 (GRCm39)		probably benign	Het
Las1l	GA	GAGAA	X: 94,984,438 (GRCm39)		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCAGCCAC	3: 92,925,455 (GRCm39)		probably benign	Het
Leo1	GGTACCATGCAG	GG	9: 75,357,854 (GRCm39)		probably benign	Het
Lrit3	CATA	CATAAATA	3: 129,597,559 (GRCm39)		probably benign	Homo
Mamld1	GCAACA	GCAACAACA	X: 70,162,418 (GRCm39)		probably benign	Het
Mamld1	GCA	GCAACA	X: 70,162,424 (GRCm39)		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,875,755 (GRCm39)		probably null	Homo
Mast4	TGG	TGGGGGCGG	13: 102,872,820 (GRCm39)		probably benign	Het
Med12l	GCA	GCACCA	3: 59,183,398 (GRCm39)		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,567,568 (GRCm39)		probably benign	Het
Morf4l2	T	C	X: 135,634,371 (GRCm39)	K286E	probably benign	Het
Msantd4	A	T	9: 4,384,937 (GRCm39)	I221F	possibly damaging	Homo
Mup21	TT	TTTTTATATACT	4: 62,067,587 (GRCm39)		probably benign	Het
Nacad	TCAGGG	TCAGGGACAGGG	11: 6,549,756 (GRCm39)		probably benign	Het
Nacad	A	ACCAGGG	11: 6,549,749 (GRCm39)		probably benign	Het
Nacad	C	CAGGGTA	11: 6,549,763 (GRCm39)		probably benign	Het
Nars1	CCACTCAC	CCAC	18: 64,643,516 (GRCm39)		probably benign	Homo
Ndufc2	C	T	7: 97,049,481 (GRCm39)	P29L	probably damaging	Het
Nkx2-6	C	T	14: 69,412,678 (GRCm39)	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,324,549 (GRCm39)		probably benign	Homo
Noc2l	CTG	CTGGTG	4: 156,324,555 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGAAGCAGAAG	19: 46,069,795 (GRCm39)		probably benign	Het
Nolc1	AGC	AGCAGCAGCGGC	19: 46,069,814 (GRCm39)		probably benign	Het
Or10j2	GGGCTGCTTGTGGCAAT	G	1: 173,098,197 (GRCm39)		probably null	Het
Or51f1e	T	TTAC	7: 102,747,516 (GRCm39)		probably benign	Homo
Or51v8	AG	AGAGG	7: 103,320,173 (GRCm39)		probably benign	Homo
Or52b4	A	AAACCG	7: 102,184,888 (GRCm39)		probably null	Homo
Or5af2	T	A	11: 58,708,266 (GRCm39)	V144D	possibly damaging	Homo
Patl2	GCT	GCTTCT	2: 121,956,622 (GRCm39)		probably benign	Het
Patl2	CTG	CTGGTG	2: 121,956,620 (GRCm39)		probably benign	Het
Patl2	C	CTGA	2: 121,956,626 (GRCm39)		probably benign	Het
Patl2	GC	GCTTC	2: 121,956,625 (GRCm39)		probably benign	Het
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,006,817 (GRCm39)		probably benign	Homo
Phc1	TG	TGCTGCGG	6: 122,300,559 (GRCm39)		probably benign	Het
Phf3	ACTGCCGCTCCCGCTCC	AC	1: 30,844,104 (GRCm39)		probably benign	Het
Pick1	TTC	TTCTC	15: 79,140,146 (GRCm39)		probably null	Homo
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,270,384 (GRCm39)		probably benign	Homo
Pik3c2g	AGAGG	AGAGGGAGG	6: 139,612,652 (GRCm39)		probably null	Homo
Pitrm1	TTTTA	T	13: 6,610,632 (GRCm39)		probably benign	Homo
Pogz	GTAAT	G	3: 94,782,006 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Homo
Ppp2r5c	G	T	12: 110,507,172 (GRCm39)		probably null	Homo
Prag1	CCGC	CCGCCGC	8: 36,571,037 (GRCm39)		probably benign	Homo
Prr13	CTC	CTCTTC	15: 102,370,611 (GRCm39)		probably benign	Homo
Prr13	CACT	CACTACT	15: 102,370,606 (GRCm39)		probably benign	Homo
Ptms	TCT	TCTCCT	6: 124,891,417 (GRCm39)		probably benign	Homo
Ptpn23	G	T	9: 110,216,701 (GRCm39)	P1052T	probably benign	Homo
Raph1	GG	GGGGG	1: 60,528,426 (GRCm39)		probably benign	Homo
Rpa1	TGCTGCC	T	11: 75,209,345 (GRCm39)		probably benign	Het
Rps19	AGCGG	AG	7: 24,588,421 (GRCm39)		probably benign	Homo
Rsf1	G	GACC	7: 97,229,116 (GRCm39)		probably benign	Homo
Serpina3m	A	G	12: 104,324,882 (GRCm39)		probably null	Homo
Setd1a	TAGTGGTGG	TAGTGGTGGGAGTGGTGG	7: 127,384,488 (GRCm39)		probably benign	Het
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,384,479 (GRCm39)		probably benign	Homo
Sfswap	ACTCAGCCC	ACTCAGCCCCCTCAGCCC	5: 129,646,815 (GRCm39)		probably benign	Het
Sh3pxd2b	CCTGTG	CCTGTGTCTGTG	11: 32,373,055 (GRCm39)		probably benign	Het
Sh3pxd2b	GCCTGT	GCCTGTGCCTGT	11: 32,373,060 (GRCm39)		probably benign	Homo
Shroom4	GCAGCAACA	GCA	X: 6,536,128 (GRCm39)		probably benign	Het
Six3	CG	CGGGG	17: 85,928,799 (GRCm39)		probably benign	Het
Six3	GCG	GCGTCG	17: 85,928,786 (GRCm39)		probably benign	Het
Skint8	C	T	4: 111,796,099 (GRCm39)	L258F	probably benign	Homo
Smoc2	AGTT	A	17: 14,621,824 (GRCm39)		probably benign	Homo
Smpx	CCCCCA	C	X: 156,503,920 (GRCm39)		probably benign	Homo
Snx1	TC	TCTGC	9: 66,012,211 (GRCm39)		probably benign	Homo
Snx1	C	CTTT	9: 66,012,212 (GRCm39)		probably benign	Homo
Sp110	CT	CTAAT	1: 85,515,210 (GRCm39)		probably benign	Het
Spaca1	GCTCTC	GCTCTCCCTCTC	4: 34,049,844 (GRCm39)		probably benign	Het
Spaca1	CGCTCT	CGCTCTTGCTCT	4: 34,049,849 (GRCm39)		probably benign	Het
Spag17	AGG	AGGTGG	3: 99,963,570 (GRCm39)		probably benign	Het
Spag17	GGA	GGACGA	3: 99,963,571 (GRCm39)		probably benign	Het
Srebf2	G	T	15: 82,069,536 (GRCm39)	A693S	probably damaging	Homo
Sry	T	TGGG	Y: 2,662,841 (GRCm39)		probably benign	Homo
Stard8	AGG	AGGTGG	X: 98,110,119 (GRCm39)		probably benign	Het
Stard8	AGG	AGGTGG	X: 98,110,131 (GRCm39)		probably benign	Het
Stk10	CCCA	C	11: 32,564,520 (GRCm39)		probably benign	Homo
Tap2	ACTG	ACTGCTG	17: 34,424,673 (GRCm39)		probably benign	Homo
Tbc1d5	C	G	17: 51,106,971 (GRCm39)	Q528H	probably benign	Homo
Tbc1d5	G	C	17: 51,106,959 (GRCm39)	H532Q	probably benign	Homo
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Tmcc1	G	A	6: 116,170,341 (GRCm39)		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,105,298 (GRCm39)		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,562,756 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	G	GAAC	14: 53,887,214 (GRCm39)		probably benign	Homo
Trav15-2-dv6-2	GAA	GAATAA	14: 53,887,211 (GRCm39)		probably null	Het
Trim16	GTGA	GTGATGA	11: 62,711,515 (GRCm39)		probably benign	Homo
Tsbp1	AGC	AGCGGC	17: 34,679,032 (GRCm39)		probably benign	Het
Tsbp1	AGC	AGCGGC	17: 34,679,035 (GRCm39)		probably benign	Het
Tsen2	AGG	AGGCGG	6: 115,537,027 (GRCm39)		probably benign	Homo
Ubtf	TC	TCCGC	11: 102,197,785 (GRCm39)		probably benign	Het
Vmn1r124	G	T	7: 20,993,861 (GRCm39)	Q228K	possibly damaging	Het
Vmn1r71	A	C	7: 10,482,048 (GRCm39)	S147R	probably benign	Homo
Vmn2r99	G	A	17: 19,614,547 (GRCm39)	G756R	probably damaging	Homo
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Homo
Wdr75	AAATAA	AAA	1: 45,862,564 (GRCm39)		probably benign	Homo
Zfp111	T	G	7: 23,898,462 (GRCm39)	K383T	probably damaging	Homo
Zfp111	A	ATCG	7: 23,899,232 (GRCm39)		probably benign	Homo
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Homo
Zfp282	CGG	CGGTGG	6: 47,881,724 (GRCm39)		probably benign	Het
Zfp335	TCC	TCCACC	2: 164,749,398 (GRCm39)		probably benign	Het
Zfp335	CTC	CTCTTC	2: 164,749,394 (GRCm39)		probably benign	Het
Zfp459	TGA	TGAGAGA	13: 67,556,393 (GRCm39)		probably null	Homo
Zfp459	A	AGTGG	13: 67,556,395 (GRCm39)		probably null	Homo
Zfp459	GA	GAGTTA	13: 67,556,394 (GRCm39)		probably null	Homo
Zfp462	ACC	ACCTCAGCCACAGCCGCC	4: 55,009,760 (GRCm39)		probably benign	Het
Zfp462	CC	CCTCAGCCACAGCCATC	4: 55,009,761 (GRCm39)		probably benign	Het
Zfp598	CCACAGGC	CC	17: 24,898,346 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,756 (GRCm39)		probably benign	Het
Zfp683	AG	AGGGG	4: 133,786,190 (GRCm39)		probably benign	Homo
Zpld2	TG	TGCCG	4: 133,929,941 (GRCm39)		probably benign	Homo

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
IGL02234:Rpgrip1	APN	14	52,368,766 (GRCm39)	splice site	probably benign
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
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	52,397,586 (GRCm39)	missense	probably damaging	0.97
R4904:Rpgrip1	UTSW	14	52,358,544 (GRCm39)	missense	possibly damaging	0.86
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

Predicted Primers

PCR Primer
(F):5'- CTCTCAGGTGATTTCAATCTCACAG -3'
(R):5'- TCTTCCGTGAATGAGGCCTC -3'

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

Posted On

2018-04-05