Incidental Mutation 'R4520:Rpgrip1'
ID 334194
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 041763-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R4520 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 52348161-52401003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52389746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1138 (T1138A)
Ref Sequence ENSEMBL: ENSMUSP00000138027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111600] [ENSMUST00000111603] [ENSMUST00000180646] [ENSMUST00000181017] [ENSMUST00000181401]
AlphaFold Q9EPQ2
Predicted Effect probably benign
Transcript: ENSMUST00000111600
AA Change: T945A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
AA Change: T945A

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: T1149A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
AA Change: T1149A

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 unknown
Transcript: ENSMUST00000180500
AA Change: T43A
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: ENSMUST00000181208
Predicted Effect probably benign
Transcript: ENSMUST00000181017
AA Change: T113A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000137900
Gene: ENSMUSG00000057132
AA Change: T113A

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: T1138A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
AA Change: T1138A

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: 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: ENSMUST00000181823
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181862
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 benign
Transcript: ENSMUST00000181627
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,776,027 (GRCm39) T1739A probably damaging Het
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cel C T 2: 28,447,980 (GRCm39) V349M probably benign Het
Cspp1 A G 1: 10,204,452 (GRCm39) T1127A probably benign Het
Cyp2b10 T C 7: 25,610,982 (GRCm39) V113A probably benign Het
Cyp2c50 A G 19: 40,079,133 (GRCm39) T159A probably benign Het
Degs1 T C 1: 182,104,373 (GRCm39) D304G possibly damaging Het
Esr2 G A 12: 76,214,323 (GRCm39) P43S possibly damaging Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Gm5444 A G 13: 4,884,225 (GRCm39) noncoding transcript Het
Golga3 T A 5: 110,351,617 (GRCm39) L790* probably null Het
Gtpbp6 T C 5: 110,255,725 (GRCm39) T105A probably benign Het
Ido2 T C 8: 25,066,194 (GRCm39) E24G probably damaging Het
Ihh T A 1: 74,990,109 (GRCm39) I89F probably damaging Het
Krt13 A G 11: 100,010,174 (GRCm39) M269T probably damaging Het
Marf1 T C 16: 13,950,530 (GRCm39) H952R probably damaging Het
Mga T A 2: 119,778,579 (GRCm39) F2041L possibly damaging Het
Msmo1 A C 8: 65,173,557 (GRCm39) probably benign Het
Mterf1a A G 5: 3,940,992 (GRCm39) V292A probably damaging Het
Naxe A G 3: 87,965,289 (GRCm39) probably null Het
Ntng1 A G 3: 109,842,312 (GRCm39) S154P probably damaging Het
Or51h5 A T 7: 102,577,764 (GRCm39) I310F probably benign Het
Or56b1 T A 7: 104,285,376 (GRCm39) V165E probably damaging Het
Or8h7 T C 2: 86,721,363 (GRCm39) D52G probably benign Het
Otog T A 7: 45,890,477 (GRCm39) probably benign Het
Pigo A T 4: 43,020,301 (GRCm39) H880Q probably benign Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Pole T A 5: 110,445,790 (GRCm39) D555E probably damaging Het
Prkag2 A G 5: 25,071,169 (GRCm39) V403A probably damaging Het
Psg28 T A 7: 18,156,826 (GRCm39) M470L probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpinb9c T C 13: 33,335,840 (GRCm39) probably null Het
Sh2d6 T C 6: 72,495,936 (GRCm39) N101D possibly damaging Het
Shisa8 C G 15: 82,096,163 (GRCm39) V151L possibly damaging Het
Slc13a1 T C 6: 24,134,512 (GRCm39) T124A probably benign Het
Slc6a3 G A 13: 73,688,975 (GRCm39) V100M possibly damaging Het
Sspn A G 6: 145,907,033 (GRCm39) T79A probably benign Het
Tlr8 C T X: 166,026,171 (GRCm39) R893H probably damaging Het
Tnrc18 T C 5: 142,717,905 (GRCm39) K2183R unknown Het
Trim15 T C 17: 37,177,242 (GRCm39) I139M probably benign Het
Trmt13 A T 3: 116,375,262 (GRCm39) probably null Het
Vmn2r84 T A 10: 130,222,391 (GRCm39) T610S probably damaging Het
Zcchc14 A T 8: 122,335,834 (GRCm39) probably benign 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
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'- AACCTTTGAAACACATCGTTCG -3'
(R):5'- AACCACTTTCATCGCCATGGC -3'

Sequencing Primer
(F):5'- CCTTTGAAACACATCGTTCGAGACTG -3'
(R):5'- TGGCAACAGACCTCCATCCTC -3'
Posted On 2015-08-18