Incidental Mutation 'IGL01548:Rpgrip1'
ID93246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpgrip1
Ensembl Gene ENSMUSG00000057132
Gene Nameretinitis pigmentosa GTPase regulator interacting protein 1
SynonymsA930002K18Rik, 4930505G06Rik, 4930401L23Rik, nmf247
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.182) question?
Stock #IGL01548
Quality Score
Status
Chromosome14
Chromosomal Location52110704-52163546 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 52126271 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000111600] [ENSMUST00000111603] [ENSMUST00000180646] [ENSMUST00000181401]
Predicted Effect probably benign
Transcript: ENSMUST00000111600
SMART Domains Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132

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
SMART Domains Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132

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: 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 probably benign
Transcript: ENSMUST00000181401
SMART Domains Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132

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: ENSMUST00000181673
Predicted Effect probably benign
Transcript: ENSMUST00000181709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181823
Coding Region Coverage
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,814,259 N110D probably damaging Het
Acot3 C T 12: 84,057,089 T224I probably benign Het
Adamts18 C T 8: 113,764,299 G512E probably damaging Het
Atp4b A G 8: 13,389,679 I181T probably damaging Het
Bcl11a A G 11: 24,163,346 I230V probably benign Het
Cenpj C A 14: 56,532,319 V1138L probably benign Het
Cep78 A G 19: 15,981,200 probably benign Het
Clec2j T A 6: 128,655,978 noncoding transcript Het
Col5a3 T C 9: 20,803,000 probably benign Het
Cpne6 A T 14: 55,512,726 T105S probably damaging Het
Csmd1 A T 8: 16,288,646 Y482* probably null Het
Ctrl C A 8: 105,933,258 probably benign Het
Dhcr24 T A 4: 106,573,871 C252* probably null Het
Dnah17 G A 11: 118,098,612 P1261S probably benign Het
Dnaic2 T C 11: 114,752,942 L466P probably damaging Het
Dync2h1 A T 9: 7,071,922 F3036Y probably damaging Het
Eef1akmt2 A C 7: 132,831,405 S191A probably damaging Het
Fam205c T C 4: 42,868,564 E353G probably benign Het
Fat4 G A 3: 39,009,257 C4454Y probably damaging Het
Fat4 T C 3: 38,887,758 S267P probably damaging Het
Frrs1 T C 3: 116,885,185 C219R probably damaging Het
Gabra6 T A 11: 42,317,023 Q207L probably damaging Het
Gm19668 A T 10: 77,798,408 C242* probably null Het
Gm2840 G A 5: 96,174,277 noncoding transcript Het
Gm6614 A G 6: 141,992,512 I227T possibly damaging Het
Gm8765 A G 13: 50,700,378 T91A probably benign Het
Gmcl1p1 G A X: 3,078,226 G423S probably benign Het
Golim4 C T 3: 75,908,125 probably null Het
Gucy1b1 G T 3: 82,034,862 T530K probably damaging Het
Hacl1 A T 14: 31,640,596 D31E possibly damaging Het
Hectd4 A G 5: 121,364,660 T4276A possibly damaging Het
Henmt1 T C 3: 108,942,779 I26T probably damaging Het
Hspa1l G A 17: 34,978,391 A469T probably damaging Het
Htra3 T A 5: 35,664,076 probably null Het
Lrrc28 C A 7: 67,628,294 probably null Het
Mfhas1 T C 8: 35,590,459 L696P probably damaging Het
Mios A G 6: 8,234,252 K808E possibly damaging Het
Mtnr1b A G 9: 15,863,200 Y188H probably damaging Het
Myom1 A G 17: 71,101,220 probably benign Het
Naca A T 10: 128,040,904 probably benign Het
Nckap1l T A 15: 103,462,720 V213D probably benign Het
Ndufa6 C T 15: 82,354,081 V50M possibly damaging Het
Olfr1000 A G 2: 85,608,761 W50R probably benign Het
Olfr1055 T A 2: 86,347,733 Y11F possibly damaging Het
Olfr1260 T A 2: 89,978,539 F254I possibly damaging Het
Olfr1465 A G 19: 13,313,986 F100L possibly damaging Het
Olfr923 A G 9: 38,828,350 T220A probably benign Het
Osbpl1a T C 18: 12,763,575 Y311C probably damaging Het
Parp11 A C 6: 127,491,599 Y204S probably damaging Het
Pla2g4a A G 1: 149,932,656 probably null Het
Plec T C 15: 76,189,258 R519G probably benign Het
Ppp2r5c T A 12: 110,567,827 Y375N probably benign Het
Prss35 C A 9: 86,755,274 S32R probably benign Het
Prss57 C T 10: 79,785,747 probably benign Het
Ptprc A C 1: 138,099,481 probably null Het
Rims1 A G 1: 22,538,602 C188R probably damaging Het
Ripk4 G T 16: 97,751,496 Y144* probably null Het
Rps6ka4 A G 19: 6,832,323 V378A probably benign Het
Rtf1 A G 2: 119,712,108 K298E probably benign Het
Sdk1 T C 5: 142,085,765 F1237L possibly damaging Het
Slc40a1 T C 1: 45,909,492 K543E probably benign Het
Sorcs3 A T 19: 48,794,168 I1041F possibly damaging Het
Taok3 T C 5: 117,272,197 M818T probably benign Het
Tas2r119 T A 15: 32,177,977 F230I probably damaging Het
Tbc1d8 T C 1: 39,381,304 D716G probably damaging Het
Tfg A G 16: 56,701,102 S58P probably damaging Het
Thnsl1 A G 2: 21,213,132 I45V probably damaging Het
Tle1 A G 4: 72,170,718 L96P probably damaging Het
Tmem260 A C 14: 48,480,325 S276R possibly damaging Het
Utp20 A G 10: 88,764,781 S24P probably damaging Het
Vcam1 T C 3: 116,115,951 I576V probably benign Het
Vmn1r27 G T 6: 58,215,553 N105K probably benign Het
Vmn2r12 A C 5: 109,093,027 Y73* probably null Het
Vmn2r86 T C 10: 130,446,282 I822V probably benign Het
Wdr6 C T 9: 108,574,897 V596I possibly damaging Het
Zfp946 A T 17: 22,454,662 K132N possibly damaging Het
Other mutations in Rpgrip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Rpgrip1 APN 14 52150438 unclassified probably null
IGL01016:Rpgrip1 APN 14 52145836 missense probably damaging 1.00
IGL01019:Rpgrip1 APN 14 52131176 missense possibly damaging 0.70
IGL01382:Rpgrip1 APN 14 52145477 missense possibly damaging 0.93
IGL01433:Rpgrip1 APN 14 52126377 missense probably damaging 1.00
IGL01528:Rpgrip1 APN 14 52112177 nonsense probably null
IGL01652:Rpgrip1 APN 14 52145492 unclassified probably benign
IGL02040:Rpgrip1 APN 14 52121019 missense possibly damaging 0.86
IGL02113:Rpgrip1 APN 14 52133844 missense possibly damaging 0.85
IGL02121:Rpgrip1 APN 14 52147374 missense possibly damaging 0.89
IGL02185:Rpgrip1 APN 14 52112228 missense possibly damaging 0.72
IGL02234:Rpgrip1 APN 14 52131309 splice site probably benign
IGL02322:Rpgrip1 APN 14 52150042 missense possibly damaging 0.89
IGL02379:Rpgrip1 APN 14 52138888 missense possibly damaging 0.53
IGL02524:Rpgrip1 APN 14 52121054 missense probably benign 0.01
IGL02836:Rpgrip1 APN 14 52145257 unclassified probably null
IGL03264:Rpgrip1 APN 14 52140652 missense possibly damaging 0.53
IGL03410:Rpgrip1 APN 14 52158366 unclassified probably benign
FR4976:Rpgrip1 UTSW 14 52149394 utr 3 prime probably benign
FR4976:Rpgrip1 UTSW 14 52149544 utr 3 prime probably benign
R0045:Rpgrip1 UTSW 14 52141144 missense possibly damaging 0.53
R0045:Rpgrip1 UTSW 14 52141144 missense possibly damaging 0.53
R0089:Rpgrip1 UTSW 14 52149384 utr 3 prime probably benign
R0498:Rpgrip1 UTSW 14 52131314 splice site probably benign
R0602:Rpgrip1 UTSW 14 52133856 missense possibly damaging 0.72
R0776:Rpgrip1 UTSW 14 52141169 missense possibly damaging 0.85
R1139:Rpgrip1 UTSW 14 52147221 missense probably benign 0.33
R1528:Rpgrip1 UTSW 14 52112224 missense probably benign 0.01
R1715:Rpgrip1 UTSW 14 52140691 missense possibly damaging 0.53
R1934:Rpgrip1 UTSW 14 52114644 missense possibly damaging 0.53
R2087:Rpgrip1 UTSW 14 52136622 intron probably null
R2114:Rpgrip1 UTSW 14 52149567 missense probably benign 0.27
R3406:Rpgrip1 UTSW 14 52145209 missense possibly damaging 0.92
R3835:Rpgrip1 UTSW 14 52147253 missense probably damaging 1.00
R4084:Rpgrip1 UTSW 14 52149351 missense possibly damaging 0.72
R4124:Rpgrip1 UTSW 14 52152324 splice site probably null
R4381:Rpgrip1 UTSW 14 52150449 missense possibly damaging 0.54
R4407:Rpgrip1 UTSW 14 52147399 missense probably damaging 1.00
R4520:Rpgrip1 UTSW 14 52152289 missense probably benign 0.08
R4904:Rpgrip1 UTSW 14 52121087 missense possibly damaging 0.86
R4904:Rpgrip1 UTSW 14 52160129 missense probably damaging 0.97
R5284:Rpgrip1 UTSW 14 52149276 missense probably damaging 1.00
R5342:Rpgrip1 UTSW 14 52145209 missense possibly damaging 0.92
R5377:Rpgrip1 UTSW 14 52160195 missense possibly damaging 0.96
R5499:Rpgrip1 UTSW 14 52140585 missense probably benign 0.00
R5729:Rpgrip1 UTSW 14 52160160 missense probably benign 0.28
R5834:Rpgrip1 UTSW 14 52158382 missense probably damaging 0.99
R6157:Rpgrip1 UTSW 14 52112174 missense probably benign 0.00
R6455:Rpgrip1 UTSW 14 52141189 missense probably damaging 0.97
R6796:Rpgrip1 UTSW 14 52150012 missense probably damaging 1.00
R7065:Rpgrip1 UTSW 14 52141193 missense possibly damaging 0.96
R7173:Rpgrip1 UTSW 14 52112176 missense possibly damaging 0.59
R7302:Rpgrip1 UTSW 14 52149555 missense unknown
R7315:Rpgrip1 UTSW 14 52121001 missense not run
R7320:Rpgrip1 UTSW 14 52131216 missense possibly damaging 0.53
R7344:Rpgrip1 UTSW 14 52140659 missense probably damaging 0.98
R7459:Rpgrip1 UTSW 14 52140559 missense probably benign 0.18
R7797:Rpgrip1 UTSW 14 52133820 missense possibly damaging 0.53
R7852:Rpgrip1 UTSW 14 52145880 missense probably benign 0.01
R7935:Rpgrip1 UTSW 14 52145880 missense probably benign 0.01
R8041:Rpgrip1 UTSW 14 52119245 missense possibly damaging 0.53
RF028:Rpgrip1 UTSW 14 52149398 nonsense probably null
RF034:Rpgrip1 UTSW 14 52149526 utr 3 prime probably benign
RF035:Rpgrip1 UTSW 14 52149393 utr 3 prime probably benign
RF036:Rpgrip1 UTSW 14 52149541 frame shift probably null
RF040:Rpgrip1 UTSW 14 52149537 frame shift probably null
RF043:Rpgrip1 UTSW 14 52149395 utr 3 prime probably benign
X0024:Rpgrip1 UTSW 14 52141208 missense possibly damaging 0.85
X0026:Rpgrip1 UTSW 14 52147221 missense probably benign 0.33
Posted On2013-12-09