Incidental Mutation 'R4407:Rpgrip1'
ID 327729
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 041689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R4407 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 52348161-52401003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52384856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 655 (F655I)
Ref Sequence ENSEMBL: ENSMUSP00000107227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111600] [ENSMUST00000111603] [ENSMUST00000180646] [ENSMUST00000181401] [ENSMUST00000181017]
AlphaFold Q9EPQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000111600
AA Change: F655I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
AA Change: F655I

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 unknown
Transcript: ENSMUST00000111603
AA Change: F817I
SMART Domains Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
AA Change: F817I

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 noncoding transcript
Transcript: ENSMUST00000180388
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 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: ENSMUST00000181401
AA Change: F806I
SMART Domains Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
AA Change: F806I

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: ENSMUST00000181823
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 noncoding transcript
Transcript: ENSMUST00000181862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181208
Predicted Effect probably benign
Transcript: ENSMUST00000181627
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
Meta Mutation Damage Score 0.5076 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (61/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830035A12Rik T C 11: 107,422,881 (GRCm39) noncoding transcript Het
Bbs10 A G 10: 111,135,720 (GRCm39) T278A probably benign Het
Bcl6b A G 11: 70,116,929 (GRCm39) L450P probably damaging Het
Braf T G 6: 39,592,654 (GRCm39) K674Q probably damaging Het
Cep112 C T 11: 108,410,027 (GRCm39) T481I possibly damaging Het
Cep135 T A 5: 76,772,514 (GRCm39) M633K probably benign Het
Cpped1 T C 16: 11,623,285 (GRCm39) Y278C probably damaging Het
Depdc5 T A 5: 33,061,878 (GRCm39) probably null Het
Dolpp1 C T 2: 30,286,464 (GRCm39) A128V possibly damaging Het
E2f5 T A 3: 14,668,823 (GRCm39) D238E probably benign Het
Fat4 A T 3: 39,012,689 (GRCm39) D2328V probably benign Het
Fbln1 T A 15: 85,115,757 (GRCm39) probably null Het
Fkbp3 T C 12: 65,116,778 (GRCm39) T53A probably damaging Het
Flg2 G T 3: 93,122,176 (GRCm39) G1449C unknown Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Glyctk A T 9: 106,034,307 (GRCm39) probably benign Het
Gm6430 T C 1: 96,953,297 (GRCm39) noncoding transcript Het
Golga1 C A 2: 38,909,653 (GRCm39) probably null Het
Gucy2g A T 19: 55,226,269 (GRCm39) F216I probably benign Het
L3mbtl3 A G 10: 26,189,782 (GRCm39) V494A unknown Het
Lama2 AATCAGACAGGAG A 10: 27,088,124 (GRCm39) probably benign Het
Lemd3 A T 10: 120,761,335 (GRCm39) L907Q possibly damaging Het
Lrp2 A T 2: 69,332,861 (GRCm39) V1552D probably damaging Het
Map3k12 T C 15: 102,413,837 (GRCm39) T45A probably damaging Het
Mycbp2 A T 14: 103,524,664 (GRCm39) D665E probably damaging Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Or4p7 A T 2: 88,222,427 (GRCm39) M279L probably benign Het
Pcdhac2 G T 18: 37,277,499 (GRCm39) V160L probably benign Het
Pcnt T C 10: 76,210,704 (GRCm39) E2473G possibly damaging Het
Pitpnm2 T A 5: 124,290,678 (GRCm39) I3L possibly damaging Het
Prkd3 C A 17: 79,290,987 (GRCm39) W176L probably damaging Het
Prpf39 C T 12: 65,103,040 (GRCm39) A438V probably damaging Het
Rrp12 T C 19: 41,880,990 (GRCm39) Y147C probably damaging Het
Sec23b A T 2: 144,416,638 (GRCm39) N429Y possibly damaging Het
Slc2a10 T A 2: 165,356,684 (GRCm39) S115T probably damaging Het
Spg11 A C 2: 121,905,813 (GRCm39) D1277E probably benign Het
Sspo A G 6: 48,437,454 (GRCm39) D1279G probably damaging Het
St18 T C 1: 6,898,061 (GRCm39) I621T probably benign Het
Tbc1d31 T A 15: 57,783,438 (GRCm39) D112E possibly damaging Het
Tdpoz6 C A 3: 93,599,419 (GRCm39) V317L probably benign Het
Tgm4 A T 9: 122,885,595 (GRCm39) D379V probably damaging Het
Thyn1 A T 9: 26,914,893 (GRCm39) D15V possibly damaging Het
Timd6 A G 11: 46,468,207 (GRCm39) T94A probably damaging Het
Tm4sf19 T C 16: 32,226,712 (GRCm39) V167A possibly damaging Het
Trim38 A C 13: 23,975,474 (GRCm39) Q471P probably benign Het
Trmt1 T A 8: 85,424,384 (GRCm39) probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp9y T C Y: 1,336,375 (GRCm39) I1500V probably benign Het
Vgll4 C T 6: 114,867,573 (GRCm39) probably null Het
Vmn1r173 T A 7: 23,402,441 (GRCm39) N225K probably damaging Het
Vmn2r22 C T 6: 123,614,913 (GRCm39) G226R probably damaging Het
Wnk3 C A X: 150,016,209 (GRCm39) P555Q probably benign Het
Yes1 T G 5: 32,797,929 (GRCm39) Y83D possibly damaging Het
Zdhhc15 G A X: 103,604,294 (GRCm39) R322* 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
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 PCR Primer
(F):5'- TCAGAATGAGCTTCGGGTTG -3'
(R):5'- TGACTGTTCCAAGCAAGTAAAC -3'

Sequencing Primer
(F):5'- AATGAGCTTCGGGTTGAGATCACC -3'
(R):5'- TTGGTAAGGACAGAGAGATGATGC -3'
Posted On 2015-07-07