Incidental Mutation 'R1715:Rpgrip1'
ID 190961
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 039748-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R1715 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 52110704-52163546 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52140691 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 499 (C499S)
Ref Sequence ENSEMBL: ENSMUSP00000138027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111600] [ENSMUST00000111603] [ENSMUST00000180646] [ENSMUST00000181401]
AlphaFold Q9EPQ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000111600
AA Change: C499S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
AA Change: C499S

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: C499S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
AA Change: C499S

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: 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 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 possibly damaging
Transcript: ENSMUST00000181401
AA Change: C499S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
AA Change: C499S

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
Predicted Effect probably benign
Transcript: ENSMUST00000181709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181823
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T C 11: 103,199,824 (GRCm38) probably null Het
2210010C04Rik A G 6: 41,032,936 (GRCm38) probably null Het
2410089E03Rik T A 15: 8,226,900 (GRCm38) probably null Het
Abca8a G A 11: 110,091,580 (GRCm38) T12M probably damaging Het
Alms1 T A 6: 85,629,052 (GRCm38) Y2561* probably null Het
Atp10a G A 7: 58,786,505 (GRCm38) V348I probably damaging Het
Best2 T C 8: 85,011,223 (GRCm38) Y181C probably benign Het
Btaf1 T A 19: 36,969,121 (GRCm38) D442E probably damaging Het
C330027C09Rik C T 16: 49,005,719 (GRCm38) T383I probably benign Het
Carmil3 T G 14: 55,504,532 (GRCm38) V1153G probably benign Het
Cc2d2a A G 5: 43,718,661 (GRCm38) I993M probably damaging Het
Ccng1 G A 11: 40,752,114 (GRCm38) P169S probably benign Het
Cmtr2 T C 8: 110,222,798 (GRCm38) L580P probably damaging Het
Col22a1 T C 15: 72,006,981 (GRCm38) E109G possibly damaging Het
Crispld2 G T 8: 120,023,649 (GRCm38) W264L possibly damaging Het
Cyp2c38 T C 19: 39,404,795 (GRCm38) H276R probably benign Het
Dag1 A T 9: 108,208,715 (GRCm38) V409E possibly damaging Het
Emc8 T C 8: 120,658,555 (GRCm38) N146S probably benign Het
Glt8d1 T C 14: 31,011,521 (GRCm38) V321A possibly damaging Het
Gm5174 C T 10: 86,656,912 (GRCm38) noncoding transcript Het
Hdac10 G T 15: 89,126,709 (GRCm38) probably null Het
Hectd4 A G 5: 121,344,818 (GRCm38) D3144G possibly damaging Het
Ifna11 C T 4: 88,820,236 (GRCm38) S93L probably damaging Het
Il16 T C 7: 83,648,728 (GRCm38) N431S probably benign Het
Irf8 A T 8: 120,754,388 (GRCm38) E237V probably damaging Het
Lrp1b A G 2: 41,185,981 (GRCm38) Y1769H probably damaging Het
Lrrc9 A G 12: 72,477,299 (GRCm38) N761D probably damaging Het
Mbtps1 T C 8: 119,542,730 (GRCm38) Y207C probably benign Het
Myo9a A G 9: 59,832,300 (GRCm38) E765G probably damaging Het
Nlrp3 A G 11: 59,543,351 (GRCm38) D80G probably damaging Het
Olfr361 G A 2: 37,085,176 (GRCm38) P191S probably damaging Het
Olfr697 G C 7: 106,741,548 (GRCm38) P129A probably damaging Het
Olfr830 A T 9: 18,875,794 (GRCm38) I156F probably benign Het
Pcyt2 T A 11: 120,615,851 (GRCm38) probably null Het
Plxnd1 T C 6: 115,968,681 (GRCm38) T944A probably benign Het
Psd4 A T 2: 24,405,332 (GRCm38) I833F probably damaging Het
Psmd7 A G 8: 107,581,185 (GRCm38) I222T probably benign Het
Rap2b A G 3: 61,365,190 (GRCm38) E45G probably damaging Het
Rbm22 T C 18: 60,560,844 (GRCm38) S7P possibly damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,651,666 (GRCm38) probably benign Het
Rfx4 A G 10: 84,844,280 (GRCm38) N107S probably damaging Het
Ripk2 T A 4: 16,155,192 (GRCm38) probably null Het
Scarf1 T C 11: 75,524,044 (GRCm38) S515P probably damaging Het
Sgip1 T C 4: 102,915,059 (GRCm38) V215A probably benign Het
Sis T C 3: 72,889,010 (GRCm38) I1813V possibly damaging Het
Slc17a3 A T 13: 23,856,741 (GRCm38) T317S probably benign Het
Slc35e1 T C 8: 72,483,977 (GRCm38) N340S probably benign Het
Smg6 A G 11: 74,929,430 (GRCm38) I176V probably benign Het
Smim17 T C 7: 6,429,326 (GRCm38) L89S probably damaging Het
Synm T C 7: 67,736,303 (GRCm38) N95S probably damaging Het
Tdrd9 A G 12: 112,036,439 (GRCm38) K841E possibly damaging Het
Tep1 G T 14: 50,854,567 (GRCm38) F570L possibly damaging Het
Tgm3 G A 2: 130,026,814 (GRCm38) probably null Het
Tra2b T C 16: 22,252,746 (GRCm38) Y128C possibly damaging Het
Vmn2r17 T C 5: 109,428,244 (GRCm38) V327A probably benign Het
Wdr20rt A T 12: 65,227,314 (GRCm38) D344V probably damaging Het
Zfp940 A G 7: 29,844,938 (GRCm38) C515R 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
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 52,121,087 (GRCm38) missense possibly damaging 0.86
R4904:Rpgrip1 UTSW 14 52,160,129 (GRCm38) missense probably damaging 0.97
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
R5377:Rpgrip1 UTSW 14 52,160,195 (GRCm38) missense possibly damaging 0.96
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'- GCGTTTTACAACTCTCACCAACCG -3'
(R):5'- GCTCAGGCTTTCTAAGACCCTTCAC -3'

Sequencing Primer
(F):5'- TCACCAACCGCTTTTACCAATG -3'
(R):5'- ACCCAGAAGTTTGGCACTTG -3'
Posted On 2014-05-14