Incidental Mutation 'R2087:Rpgrip1'
ID 266068
Institutional Source Beutler Lab
Gene Symbol Rpgrip1
Ensembl Gene ENSMUSG00000057132
Gene Name retinitis pigmentosa GTPase regulator interacting protein 1
Synonyms A930002K18Rik, 4930505G06Rik, nmf247, 4930401L23Rik
MMRRC Submission 040092-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R2087 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 52348161-52401003 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 52374079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111600] [ENSMUST00000111600] [ENSMUST00000111603] [ENSMUST00000111603] [ENSMUST00000180646] [ENSMUST00000181401] [ENSMUST00000181401]
AlphaFold Q9EPQ2
Predicted Effect probably null
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 null
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 null
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 null
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: 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 noncoding transcript
Transcript: ENSMUST00000180901
SMART Domains Protein: ENSMUSP00000137826
Gene: ENSMUSG00000057132

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
coiled coil region 180 224 N/A INTRINSIC
low complexity region 257 284 N/A INTRINSIC
Predicted Effect probably null
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 null
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 noncoding transcript
Transcript: ENSMUST00000181673
Predicted Effect probably benign
Transcript: ENSMUST00000181709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181823
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 95% (57/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T A 19: 24,042,364 (GRCm39) noncoding transcript Het
Adamts8 G A 9: 30,873,408 (GRCm39) R871Q probably damaging Het
Ank1 T C 8: 23,583,827 (GRCm39) L310S probably damaging Het
Atp2a3 A G 11: 72,871,274 (GRCm39) T592A probably damaging Het
Bpifb6 A G 2: 153,747,998 (GRCm39) D219G possibly damaging Het
Catsper4 T C 4: 133,953,916 (GRCm39) N81S probably damaging Het
Ccdc14 T C 16: 34,516,015 (GRCm39) probably null Het
Ces1c A C 8: 93,834,230 (GRCm39) N353K probably benign Het
Chrna6 T A 8: 27,897,155 (GRCm39) M241L probably benign Het
Chtf8 T A 8: 107,612,568 (GRCm39) R124* probably null Het
Cpt1b A G 15: 89,306,411 (GRCm39) V296A probably benign Het
Cryl1 G A 14: 57,513,402 (GRCm39) S273L possibly damaging Het
Ctps1 T C 4: 120,420,012 (GRCm39) D134G probably benign Het
Cyp4f18 T C 8: 72,754,832 (GRCm39) M138V probably benign Het
Dnajb12 A G 10: 59,726,667 (GRCm39) K107R possibly damaging Het
Epha1 C T 6: 42,340,502 (GRCm39) D590N probably benign Het
Fndc3b A G 3: 27,505,703 (GRCm39) V855A probably benign Het
Ganc A G 2: 120,287,738 (GRCm39) Y822C probably damaging Het
Hook2 A G 8: 85,729,320 (GRCm39) D622G probably damaging Het
Kcnj8 T A 6: 142,511,422 (GRCm39) N395I probably benign Het
Kdm4b T C 17: 56,696,564 (GRCm39) S427P possibly damaging Het
Krt12 A G 11: 99,309,459 (GRCm39) F267S probably damaging Het
Lrrn2 T G 1: 132,865,489 (GRCm39) F185V probably damaging Het
Mecom A G 3: 30,006,963 (GRCm39) S764P probably benign Het
Mfsd14b C G 13: 65,215,796 (GRCm39) G386R probably damaging Het
Mrm2 A G 5: 140,314,155 (GRCm39) S227P probably damaging Het
Mug1 A G 6: 121,833,250 (GRCm39) N285S probably benign Het
Nalcn T C 14: 123,518,557 (GRCm39) T1661A probably benign Het
Ncoa6 G A 2: 155,248,079 (GRCm39) R1742* probably null Het
Nln T A 13: 104,173,877 (GRCm39) H548L probably damaging Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Or2r3 A T 6: 42,448,985 (GRCm39) N42K probably damaging Het
Or56b34 T A 7: 104,937,393 (GRCm39) I31N probably benign Het
Pgm5 T C 19: 24,710,927 (GRCm39) Y425C probably damaging Het
Pld2 A G 11: 70,433,786 (GRCm39) D242G probably damaging Het
Plekhm1 A G 11: 103,287,851 (GRCm39) probably null Het
Ptdss1 T C 13: 67,124,881 (GRCm39) probably benign Het
Pyroxd2 G T 19: 42,722,209 (GRCm39) L415I probably benign Het
Rapgef6 A G 11: 54,522,075 (GRCm39) T291A probably damaging Het
Rb1 A G 14: 73,517,692 (GRCm39) I238T probably benign Het
Rp1 G A 1: 4,418,575 (GRCm39) H846Y probably damaging Het
Scaf4 T C 16: 90,049,313 (GRCm39) D258G unknown Het
Ska1 A T 18: 74,339,920 (GRCm39) C9S probably benign Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc43a1 G A 2: 84,680,175 (GRCm39) R107Q probably damaging Het
Slc44a3 T A 3: 121,319,319 (GRCm39) N141Y probably damaging Het
Slit1 A T 19: 41,625,922 (GRCm39) D613E probably benign Het
Spata22 A T 11: 73,231,079 (GRCm39) Y111F probably benign Het
Tchh C A 3: 93,351,225 (GRCm39) R222S unknown Het
Tekt3 A G 11: 62,985,523 (GRCm39) D443G possibly damaging Het
Tns2 A T 15: 102,015,554 (GRCm39) Q144L possibly damaging Het
Troap T C 15: 98,976,698 (GRCm39) V274A possibly damaging Het
Ugt1a8 A G 1: 88,015,995 (GRCm39) Y136C probably damaging Het
Vmn2r23 A T 6: 123,718,458 (GRCm39) M604L probably benign Het
Vps13b T A 15: 35,597,639 (GRCm39) W1060R probably damaging Het
Wdfy3 A G 5: 102,042,926 (GRCm39) S1942P probably damaging Het
Wdr90 G A 17: 26,065,577 (GRCm39) T1596I probably damaging Het
Zc3h4 A G 7: 16,150,865 (GRCm39) E69G possibly damaging 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
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 52,358,544 (GRCm39) missense possibly damaging 0.86
R4904:Rpgrip1 UTSW 14 52,397,586 (GRCm39) missense probably damaging 0.97
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
Posted On 2015-02-05