Incidental Mutation 'R5729:Rpgrip1'
ID 452677
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 043346-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R5729 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 52348161-52401003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52397617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 1302 (Q1302R)
Ref Sequence ENSEMBL: ENSMUSP00000138027 (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 probably benign
Transcript: ENSMUST00000111600
AA Change: Q1109R

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
AA Change: Q1109R

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
AA Change: Q1313R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
AA Change: Q1313R

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 unknown
Transcript: ENSMUST00000181736
AA Change: Q63R
Predicted Effect probably benign
Transcript: ENSMUST00000181017
AA Change: Q277R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000137900
Gene: ENSMUSG00000057132
AA Change: Q277R

DomainStartEndE-ValueType
coiled coil region 1 31 N/A INTRINSIC
Blast:C2 126 254 2e-41 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000181401
AA Change: Q1302R

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
AA Change: Q1302R

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: ENSMUST00000181208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181823
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227577
Meta Mutation Damage Score 0.0742 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (62/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 A T 1: 177,623,824 (GRCm39) V46E possibly damaging Het
Aldoart2 T C 12: 55,612,690 (GRCm39) V205A probably benign Het
Atp1a2 A G 1: 172,120,938 (GRCm39) S45P probably damaging Het
Atp4a A G 7: 30,411,851 (GRCm39) K29E possibly damaging Het
AU040320 T A 4: 126,724,208 (GRCm39) D428E probably damaging Het
Bend7 T C 2: 4,768,085 (GRCm39) L347P probably damaging Het
Cacna2d1 T A 5: 16,140,037 (GRCm39) L9* probably null Het
Ccdc103 A T 11: 102,773,904 (GRCm39) I50F probably damaging Het
Cdc5l T C 17: 45,737,495 (GRCm39) I88V probably benign Het
Cracr2a T C 6: 127,584,199 (GRCm39) V86A possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dgkd C T 1: 87,864,054 (GRCm39) Q90* probably null Het
Dnajc21 A T 15: 10,449,682 (GRCm39) D446E probably benign Het
Fam13a T G 6: 58,916,292 (GRCm39) R648S probably damaging Het
Gabrg2 A G 11: 41,858,450 (GRCm39) V226A probably damaging Het
Gm5499 A T 17: 87,385,944 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Irf2bp1 G T 7: 18,739,172 (GRCm39) E271* probably null Het
Krt86 T G 15: 101,374,429 (GRCm39) V274G probably benign Het
Lats2 A T 14: 57,960,192 (GRCm39) C151S probably benign Het
Mapk3 A T 7: 126,363,979 (GRCm39) T254S probably benign Het
Mat2b A T 11: 40,573,373 (GRCm39) M202K probably damaging Het
Mos A G 4: 3,870,971 (GRCm39) Y282H probably benign Het
Myo3b A G 2: 69,936,083 (GRCm39) K108R probably damaging Het
Naa16 A G 14: 79,593,220 (GRCm39) Y417H probably damaging Het
Oat A T 7: 132,159,984 (GRCm39) I412N probably damaging Het
Or4d11 A T 19: 12,013,272 (GRCm39) I278N probably damaging Het
Pcdh1 A T 18: 38,335,999 (GRCm39) V73D probably damaging Het
Pigv A T 4: 133,392,134 (GRCm39) Y345* probably null Het
Pitpnc1 G T 11: 107,228,264 (GRCm39) F34L probably benign Het
Plxnd1 A G 6: 115,942,838 (GRCm39) L1282P probably damaging Het
Ppp1r3a T C 6: 14,719,762 (GRCm39) D384G probably benign Het
Ppp2ca G A 11: 52,008,856 (GRCm39) E119K probably damaging Het
Psg29 A T 7: 16,944,459 (GRCm39) N323I probably damaging Het
Rasa4 T C 5: 136,122,016 (GRCm39) V108A probably benign Het
Rbm14 A G 19: 4,852,577 (GRCm39) probably benign Het
Rfc1 A T 5: 65,434,795 (GRCm39) V657E probably damaging Het
Rhcg A T 7: 79,250,371 (GRCm39) N237K probably damaging Het
Rragc A G 4: 123,818,645 (GRCm39) M287V possibly damaging Het
Scn7a A G 2: 66,572,301 (GRCm39) probably null Het
Sema6a C T 18: 47,414,410 (GRCm39) C506Y probably damaging Het
Senp1 G T 15: 97,964,412 (GRCm39) H267Q possibly damaging Het
Skor2 A G 18: 76,946,578 (GRCm39) E100G unknown Het
Slc38a11 A T 2: 65,147,365 (GRCm39) C371S probably benign Het
Snai3 G A 8: 123,181,629 (GRCm39) A276V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spag6 C T 2: 18,720,525 (GRCm39) T99I probably benign Het
Spop A G 11: 95,376,675 (GRCm39) I243V possibly damaging Het
Sra1 A T 18: 36,800,496 (GRCm39) probably benign Het
Stag3 T A 5: 138,288,485 (GRCm39) S140T possibly damaging Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tbc1d2b G C 9: 90,089,925 (GRCm39) A868G probably benign Het
Tead2 A G 7: 44,870,166 (GRCm39) probably benign Het
Tmem53 C A 4: 117,125,669 (GRCm39) H261N probably damaging Het
Ube4a A T 9: 44,844,627 (GRCm39) S932T probably damaging Het
Usp9y A T Y: 1,381,339 (GRCm39) D827E probably damaging Het
Vmn2r53 T C 7: 12,334,733 (GRCm39) E309G probably damaging Het
Wrn T C 8: 33,758,806 (GRCm39) S1026G probably benign Het
Zfp646 G A 7: 127,484,626 (GRCm39) A1760T probably 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
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
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'- AGCAGGATCTCTGAGGTTGAG -3'
(R):5'- TTGCAGTTTCTGAAGTCAAGTC -3'

Sequencing Primer
(F):5'- ATCTCTGAGGTTGAGGGGCC -3'
(R):5'- CACTGATGGTTGTAAGCCACGTC -3'
Posted On 2017-01-03