Incidental Mutation 'R5377:Rpgrip1'
ID 425643
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 042845-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R5377 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 52110704-52163546 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52160195 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1325 (M1325L)
Ref Sequence ENSEMBL: ENSMUSP00000107230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046709] [ENSMUST00000111600] [ENSMUST00000111603] [ENSMUST00000180646] [ENSMUST00000181017] [ENSMUST00000181401]
AlphaFold Q9EPQ2
Predicted Effect probably benign
Transcript: ENSMUST00000046709
SMART Domains Protein: ENSMUSP00000042283
Gene: ENSMUSG00000035726

DomainStartEndE-ValueType
FACT-Spt16_Nlob 5 168 2.95e-87 SMART
Pfam:Peptidase_M24 181 411 2.9e-35 PFAM
low complexity region 435 449 N/A INTRINSIC
coiled coil region 462 493 N/A INTRINSIC
SPT16 529 689 3.38e-96 SMART
Rtt106 806 896 1.61e-38 SMART
low complexity region 926 946 N/A INTRINSIC
low complexity region 951 988 N/A INTRINSIC
coiled coil region 994 1023 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111600
AA Change: M1121L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
AA Change: M1121L

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 possibly damaging
Transcript: ENSMUST00000111603
AA Change: M1325L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
AA Change: M1325L

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: 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 possibly damaging
Transcript: ENSMUST00000181017
AA Change: M289L

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137900
Gene: ENSMUSG00000057132
AA Change: M289L

DomainStartEndE-ValueType
coiled coil region 1 31 N/A INTRINSIC
Blast:C2 126 254 2e-41 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181208
Predicted Effect possibly damaging
Transcript: ENSMUST00000181401
AA Change: M1314L

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
AA Change: M1314L

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 unknown
Transcript: ENSMUST00000181736
AA Change: M75L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181823
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227577
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G T 6: 121,645,253 (GRCm38) V372F probably benign Het
Adcy10 G A 1: 165,519,895 (GRCm38) C393Y probably damaging Het
Adgrg7 A C 16: 56,730,306 (GRCm38) I681S possibly damaging Het
Akap8l T C 17: 32,321,511 (GRCm38) probably benign Het
Akr1a1 A T 4: 116,639,895 (GRCm38) V156E probably damaging Het
Alk T G 17: 71,895,739 (GRCm38) D1167A probably damaging Het
Ankrd11 T C 8: 122,893,714 (GRCm38) probably null Het
Aspm A G 1: 139,470,395 (GRCm38) probably null Het
Aspm T A 1: 139,457,483 (GRCm38) N288K probably damaging Het
Asxl2 G A 12: 3,474,618 (GRCm38) probably null Het
Atp6v0a1 A G 11: 101,055,587 (GRCm38) H802R probably damaging Het
B4galnt1 A G 10: 127,171,822 (GRCm38) T531A possibly damaging Het
Ccdc114 C T 7: 45,942,082 (GRCm38) R257* probably null Het
Cecr2 A G 6: 120,756,569 (GRCm38) N506D possibly damaging Het
Crebrf T C 17: 26,759,865 (GRCm38) V509A probably damaging Het
Cyp4f40 A T 17: 32,675,616 (GRCm38) I413F probably null Het
Defb12 C A 8: 19,114,326 (GRCm38) probably null Het
Dnah2 T C 11: 69,421,848 (GRCm38) E4297G probably damaging Het
Dpysl5 A T 5: 30,791,513 (GRCm38) N371Y probably damaging Het
Eef1d G T 15: 75,903,189 (GRCm38) T207N probably benign Het
Esrrb C T 12: 86,519,009 (GRCm38) Q416* probably null Het
Exd2 T C 12: 80,489,448 (GRCm38) L284P probably damaging Het
Fat3 T A 9: 16,376,443 (GRCm38) I595F probably benign Het
Gm9920 A G 15: 55,108,975 (GRCm38) probably benign Het
Hephl1 T C 9: 15,069,788 (GRCm38) K783E probably damaging Het
Irs2 A G 8: 11,005,277 (GRCm38) S1052P probably benign Het
Kctd18 T C 1: 57,963,093 (GRCm38) I192V probably benign Het
Lama3 A G 18: 12,453,746 (GRCm38) D722G probably damaging Het
Lepr T C 4: 101,815,019 (GRCm38) V1080A possibly damaging Het
Lpin1 C T 12: 16,563,655 (GRCm38) G504S probably damaging Het
Lrit2 A C 14: 37,069,183 (GRCm38) Q273P possibly damaging Het
Mgea5 A T 19: 45,758,022 (GRCm38) Y779* probably null Het
Mlkl T A 8: 111,327,937 (GRCm38) E189D probably benign Het
Mttp C T 3: 138,105,029 (GRCm38) R608H probably benign Het
Nav2 T C 7: 49,589,160 (GRCm38) V2011A probably benign Het
Nos2 A T 11: 78,957,491 (GRCm38) I1075F probably benign Het
Npat A G 9: 53,550,036 (GRCm38) probably null Het
Nucks1 T C 1: 131,919,033 (GRCm38) F16L probably damaging Het
Nus1 T C 10: 52,429,213 (GRCm38) S150P possibly damaging Het
Olfr1230 G T 2: 89,297,162 (GRCm38) T36K probably damaging Het
Olfr881 A T 9: 37,992,612 (GRCm38) Y40F probably benign Het
Pclo A G 5: 14,681,353 (GRCm38) T3290A unknown Het
Pign A T 1: 105,657,812 (GRCm38) F4Y probably benign Het
Rfx4 A G 10: 84,860,542 (GRCm38) N233D possibly damaging Het
Rufy4 T C 1: 74,147,663 (GRCm38) C537R probably damaging Het
Scaf11 T A 15: 96,417,120 (GRCm38) H1227L possibly damaging Het
Sec31b G T 19: 44,518,637 (GRCm38) P840T probably damaging Het
Slc16a9 T A 10: 70,283,128 (GRCm38) L426I probably damaging Het
Slc17a2 T C 13: 23,812,592 (GRCm38) S27P probably damaging Het
Slc22a30 G A 19: 8,344,393 (GRCm38) Q436* probably null Het
Tacc1 A G 8: 25,182,283 (GRCm38) S310P possibly damaging Het
Tmem245 G A 4: 56,947,084 (GRCm38) R110C probably damaging Het
Trip12 T C 1: 84,757,431 (GRCm38) Y953C probably damaging Het
Trpm7 C A 2: 126,842,855 (GRCm38) probably null Het
Ush2a G A 1: 188,912,123 (GRCm38) V4561I probably benign Het
Vmn1r192 C T 13: 22,187,631 (GRCm38) V140I probably benign Het
Vmn2r66 A T 7: 85,006,818 (GRCm38) I330N probably damaging Het
Vmn2r99 T C 17: 19,379,269 (GRCm38) V405A probably damaging Het
Wdhd1 A C 14: 47,272,221 (GRCm38) V172G probably benign Het
Zfhx3 C T 8: 108,951,185 (GRCm38) R2956C possibly damaging Het
Zfp446 T C 7: 12,982,251 (GRCm38) L283P possibly damaging Het
Zfp82 T C 7: 30,057,166 (GRCm38) K164E probably damaging Het
Other mutations in Rpgrip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Rpgrip1 APN 14 52,150,438 (GRCm38) splice site probably null
IGL01016:Rpgrip1 APN 14 52,145,836 (GRCm38) missense probably damaging 1.00
IGL01019:Rpgrip1 APN 14 52,131,176 (GRCm38) missense possibly damaging 0.70
IGL01382:Rpgrip1 APN 14 52,145,477 (GRCm38) missense possibly damaging 0.93
IGL01433:Rpgrip1 APN 14 52,126,377 (GRCm38) missense probably damaging 1.00
IGL01528:Rpgrip1 APN 14 52,112,177 (GRCm38) nonsense probably null
IGL01548:Rpgrip1 APN 14 52,126,271 (GRCm38) splice site probably benign
IGL01652:Rpgrip1 APN 14 52,145,492 (GRCm38) unclassified probably benign
IGL02040:Rpgrip1 APN 14 52,121,019 (GRCm38) missense possibly damaging 0.86
IGL02113:Rpgrip1 APN 14 52,133,844 (GRCm38) missense possibly damaging 0.85
IGL02121:Rpgrip1 APN 14 52,147,374 (GRCm38) missense possibly damaging 0.89
IGL02185:Rpgrip1 APN 14 52,112,228 (GRCm38) missense possibly damaging 0.72
IGL02234:Rpgrip1 APN 14 52,131,309 (GRCm38) splice site probably benign
IGL02322:Rpgrip1 APN 14 52,150,042 (GRCm38) missense possibly damaging 0.89
IGL02379:Rpgrip1 APN 14 52,138,888 (GRCm38) missense possibly damaging 0.53
IGL02524:Rpgrip1 APN 14 52,121,054 (GRCm38) missense probably benign 0.01
IGL02836:Rpgrip1 APN 14 52,145,257 (GRCm38) splice site probably null
IGL03264:Rpgrip1 APN 14 52,140,652 (GRCm38) missense possibly damaging 0.53
IGL03410:Rpgrip1 APN 14 52,158,366 (GRCm38) unclassified probably benign
FR4976:Rpgrip1 UTSW 14 52,149,544 (GRCm38) utr 3 prime probably benign
FR4976:Rpgrip1 UTSW 14 52,149,394 (GRCm38) utr 3 prime probably benign
R0045:Rpgrip1 UTSW 14 52,141,144 (GRCm38) missense possibly damaging 0.53
R0045:Rpgrip1 UTSW 14 52,141,144 (GRCm38) missense possibly damaging 0.53
R0089:Rpgrip1 UTSW 14 52,149,384 (GRCm38) utr 3 prime probably benign
R0498:Rpgrip1 UTSW 14 52,131,314 (GRCm38) splice site probably benign
R0602:Rpgrip1 UTSW 14 52,133,856 (GRCm38) missense possibly damaging 0.72
R0776:Rpgrip1 UTSW 14 52,141,169 (GRCm38) missense possibly damaging 0.85
R1139:Rpgrip1 UTSW 14 52,147,221 (GRCm38) missense probably benign 0.33
R1528:Rpgrip1 UTSW 14 52,112,224 (GRCm38) missense probably benign 0.01
R1715:Rpgrip1 UTSW 14 52,140,691 (GRCm38) missense possibly damaging 0.53
R1934:Rpgrip1 UTSW 14 52,114,644 (GRCm38) missense possibly damaging 0.53
R2087:Rpgrip1 UTSW 14 52,136,622 (GRCm38) splice site probably null
R2114:Rpgrip1 UTSW 14 52,149,567 (GRCm38) missense probably benign 0.27
R3406:Rpgrip1 UTSW 14 52,145,209 (GRCm38) missense possibly damaging 0.92
R3835:Rpgrip1 UTSW 14 52,147,253 (GRCm38) missense probably damaging 1.00
R4084:Rpgrip1 UTSW 14 52,149,351 (GRCm38) missense possibly damaging 0.72
R4124:Rpgrip1 UTSW 14 52,152,324 (GRCm38) splice site probably null
R4381:Rpgrip1 UTSW 14 52,150,449 (GRCm38) missense possibly damaging 0.54
R4407:Rpgrip1 UTSW 14 52,147,399 (GRCm38) missense probably damaging 1.00
R4520:Rpgrip1 UTSW 14 52,152,289 (GRCm38) missense probably benign 0.08
R4904:Rpgrip1 UTSW 14 52,160,129 (GRCm38) missense probably damaging 0.97
R4904:Rpgrip1 UTSW 14 52,121,087 (GRCm38) missense possibly damaging 0.86
R5284:Rpgrip1 UTSW 14 52,149,276 (GRCm38) missense probably damaging 1.00
R5342:Rpgrip1 UTSW 14 52,145,209 (GRCm38) missense possibly damaging 0.92
R5499:Rpgrip1 UTSW 14 52,140,585 (GRCm38) missense probably benign 0.00
R5729:Rpgrip1 UTSW 14 52,160,160 (GRCm38) missense probably benign 0.28
R5834:Rpgrip1 UTSW 14 52,158,382 (GRCm38) missense probably damaging 0.99
R6157:Rpgrip1 UTSW 14 52,112,174 (GRCm38) missense probably benign 0.00
R6455:Rpgrip1 UTSW 14 52,141,189 (GRCm38) missense probably damaging 0.97
R6796:Rpgrip1 UTSW 14 52,150,012 (GRCm38) missense probably damaging 1.00
R7065:Rpgrip1 UTSW 14 52,141,193 (GRCm38) missense possibly damaging 0.96
R7173:Rpgrip1 UTSW 14 52,112,176 (GRCm38) missense possibly damaging 0.59
R7302:Rpgrip1 UTSW 14 52,149,555 (GRCm38) missense unknown
R7315:Rpgrip1 UTSW 14 52,121,001 (GRCm38) missense not run
R7320:Rpgrip1 UTSW 14 52,131,216 (GRCm38) missense possibly damaging 0.53
R7344:Rpgrip1 UTSW 14 52,140,659 (GRCm38) missense probably damaging 0.98
R7459:Rpgrip1 UTSW 14 52,140,559 (GRCm38) missense probably benign 0.18
R7797:Rpgrip1 UTSW 14 52,133,820 (GRCm38) missense possibly damaging 0.53
R7852:Rpgrip1 UTSW 14 52,145,880 (GRCm38) missense probably benign 0.01
R7916:Rpgrip1 UTSW 14 52,131,184 (GRCm38) missense possibly damaging 0.53
R7990:Rpgrip1 UTSW 14 52,129,518 (GRCm38) missense possibly damaging 0.53
R8041:Rpgrip1 UTSW 14 52,119,245 (GRCm38) missense possibly damaging 0.53
R8344:Rpgrip1 UTSW 14 52,150,362 (GRCm38) missense possibly damaging 0.62
R8403:Rpgrip1 UTSW 14 52,152,201 (GRCm38) critical splice acceptor site probably null
R8559:Rpgrip1 UTSW 14 52,149,257 (GRCm38) missense unknown
R8679:Rpgrip1 UTSW 14 52,159,395 (GRCm38) missense probably damaging 1.00
R8817:Rpgrip1 UTSW 14 52,140,599 (GRCm38) missense probably benign 0.33
R8890:Rpgrip1 UTSW 14 52,145,044 (GRCm38) missense possibly damaging 0.85
R9197:Rpgrip1 UTSW 14 52,145,400 (GRCm38) missense possibly damaging 0.51
RF028:Rpgrip1 UTSW 14 52,149,398 (GRCm38) nonsense probably null
RF034:Rpgrip1 UTSW 14 52,149,526 (GRCm38) utr 3 prime probably benign
RF035:Rpgrip1 UTSW 14 52,149,393 (GRCm38) utr 3 prime probably benign
RF036:Rpgrip1 UTSW 14 52,149,541 (GRCm38) frame shift probably null
RF040:Rpgrip1 UTSW 14 52,149,537 (GRCm38) frame shift probably null
RF043:Rpgrip1 UTSW 14 52,149,395 (GRCm38) utr 3 prime probably benign
X0024:Rpgrip1 UTSW 14 52,141,208 (GRCm38) missense possibly damaging 0.85
X0026:Rpgrip1 UTSW 14 52,147,221 (GRCm38) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- AGAAGCAGGATCTCTGAGGTTG -3'
(R):5'- CAGTTTCTGAAGTCAAGTCAAGTTC -3'

Sequencing Primer
(F):5'- ATCTCTGAGGTTGAGGGGCC -3'
(R):5'- CACTGATGGTTGTAAGCCACGTC -3'
Posted On 2016-08-04