Incidental Mutation 'RF035:Rpgrip1'
ID 604542
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 # RF035 (G1)
Quality Score 146.467
Status Not validated
Chromosome 14
Chromosomal Location 52348161-52401003 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) AGG to AGGGGG at 52386850 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik T TTTGGCTGCC 1: 82,891,310 (GRCm39) probably benign Het
Acap3 TGCATCCTGGGCTGC TGCATCCTGGGCTGCCGCATCCTGGGCTGC 4: 155,989,548 (GRCm39) probably benign Het
AI837181 G GGCT 19: 5,475,266 (GRCm39) probably benign Het
Amfr GCC GCCGGCGCGAGCTCC 8: 94,738,920 (GRCm39) probably benign Het
Amot GGAGCAGCAA G X: 144,233,984 (GRCm39) probably benign Het
Bltp1 TAT TATTATTATTATTATGAT 3: 37,104,907 (GRCm39) probably benign Het
Cacna1f GAG GAGTAG X: 7,486,293 (GRCm39) probably null Het
Calhm1 CTGTGGCTGTGGCTGTGGCTGTGG CTGTGGCTGTGGTTGTGGCTGTGGCTGTGGCTGTGG 19: 47,129,692 (GRCm39) probably benign Het
Chga G GCAT 12: 102,527,686 (GRCm39) probably benign Het
E4f1 CGC CGCTGC 17: 24,674,164 (GRCm39) probably benign Het
E4f1 CCG CCGGCG 17: 24,674,169 (GRCm39) probably benign Het
Eps8 C CTCAG 6: 137,494,068 (GRCm39) probably null Het
Exd2 GCAGCCACAGCAGCCGCAGCAGCCGCAGCCACAGCCACAGCCACAGCCACAGCCACAGC GCAGCCACAGC 12: 80,522,674 (GRCm39) probably benign Het
Exd2 CAGCCAGAGC CAGC 12: 80,522,729 (GRCm39) probably benign Het
Gm10447 AAAAAAAAAGAAAAA AAAAAA 11: 53,347,165 (GRCm39) probably benign Het
Gm10521 CTCTCTCTCT CTCTCTCTCTCTCT 1: 171,723,860 (GRCm39) probably null Het
Gm8369 TGTG TGTGCGAGTG 19: 11,489,137 (GRCm39) probably benign Het
Gucy1b2 CACACACACACACACACTTAC CAC 14: 62,646,090 (GRCm39) probably benign Het
Ier5l TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTG 2: 30,363,832 (GRCm39) probably benign Het
Kmt2b TTCTCCT TTCTCCTTCTCCT 7: 30,285,782 (GRCm39) probably benign Het
Krtap28-10 CAG CAGCCAAAG 1: 83,019,867 (GRCm39) probably benign Het
Krtap28-10 CCACCACAGC CCACCACAGCCACAGTCACCACAGC 1: 83,020,002 (GRCm39) probably benign Het
Lmx1b TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA TACATCTTGATGCCGTCCA 2: 33,530,501 (GRCm39) probably null Het
Mamld1 GCAACA GCAACAACA X: 70,162,418 (GRCm39) probably benign Het
Mamld1 AGC AGCGGC X: 70,162,456 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,444 (GRCm39) probably benign Het
Manbal CGATAGAAT C 2: 157,237,932 (GRCm39) probably null Het
Map1a GCTCCAGCTCCAGCTCCA GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCA 2: 121,136,782 (GRCm39) probably benign Het
Mcph1 CTCT CTCTTCT 8: 18,702,541 (GRCm39) probably benign Het
Nefh CCTCACCTGGGGACTTGG CCTCACCTGGGGACTTGGGCTCACCTGGGGACTTGG 11: 4,891,039 (GRCm39) probably benign Het
Nusap1 GATACACGTTAGCAGTGAGGAGCAAGCTGA GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA 2: 119,458,060 (GRCm39) probably benign Het
Or2t49 TGGAGGTGGATTGG TG 11: 58,393,208 (GRCm39) probably benign Het
P4ha2 CCAGGTG C 11: 54,001,061 (GRCm39) probably benign Het
Pdik1l CCACCA CCACCAACACCA 4: 134,006,821 (GRCm39) probably benign Het
Polr1has CACCAC CACCACCCCCACCACCACCACAACCAC 17: 37,275,958 (GRCm39) probably benign Het
Rassf6 GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTCTTCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC 5: 90,756,767 (GRCm39) probably benign Het
Rfx4 TCTCTCTCTCTCTCT TCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT 10: 84,694,344 (GRCm39) probably benign Het
Rgs22 GCTAAAAAAAAAAAAAAAAA G 15: 36,010,981 (GRCm39) probably benign Het
Slc39a4 TGTGGTC TGTGGTCATCATGATCACCATGGTCACCATGAGCACGGTGGTC 15: 76,499,066 (GRCm39) probably benign Het
Srpk2 ATCCT AT 5: 23,730,573 (GRCm39) probably benign Het
Strn AGTC AGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCTGTC 17: 78,984,714 (GRCm39) probably null Het
Tcof1 AAGAT AAGATTGGCCCTTTCCCAGAGATGCCCTTGGCTGCTGAGAT 18: 60,966,625 (GRCm39) probably benign Het
Tfeb AGC AGCCGC 17: 48,097,036 (GRCm39) probably benign Het
Tmem59 T TGTTTGTTG 4: 107,047,729 (GRCm39) probably benign Het
Trav6d-5 ATTTTT ATTTTTTTTTT 14: 53,032,791 (GRCm39) probably benign Het
Triobp CAGGACTCCCTGTGCCCAACGG CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG 15: 78,851,239 (GRCm39) probably benign Het
Tsen2 GGA GGATGA 6: 115,537,028 (GRCm39) probably benign Het
Ttf2 TTCT TTCTTCT 3: 100,870,473 (GRCm39) probably benign Het
Vat1l C T 8: 115,016,069 (GRCm39) L320F probably damaging Het
Xirp2 TT TTTAT 2: 67,355,888 (GRCm39) probably benign Het
Yipf3 AGAGGA AGA 17: 46,559,898 (GRCm39) probably benign Het
Zfp933 TT TTTGCGT 4: 147,910,188 (GRCm39) probably null Het
Other mutations in Rpgrip1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 52,397,586 (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
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 2019-12-04