Incidental Mutation 'IGL01528:Rpgrip1'
ID89643
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: 0.216) question?
Stock #IGL01528
Quality Score
Status
Chromosome14
Chromosomal Location52110704-52163546 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 52112177 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 7 (Y7*)
Ref Sequence ENSEMBL: ENSMUSP00000138027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111600] [ENSMUST00000111603] [ENSMUST00000180646] [ENSMUST00000181401]
Predicted Effect probably null
Transcript: ENSMUST00000111600
AA Change: Y7*
SMART Domains Protein: ENSMUSP00000107227
Gene: ENSMUSG00000057132
AA Change: Y7*

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 null
Transcript: ENSMUST00000111603
AA Change: Y7*
SMART Domains Protein: ENSMUSP00000107230
Gene: ENSMUSG00000057132
AA Change: Y7*

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: ENSMUST00000180484
Predicted Effect probably null
Transcript: ENSMUST00000180646
AA Change: Y7*
SMART Domains Protein: ENSMUSP00000137751
Gene: ENSMUSG00000057132
AA Change: Y7*

DomainStartEndE-ValueType
low complexity region 98 119 N/A INTRINSIC
coiled coil region 248 276 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000181401
AA Change: Y7*
SMART Domains Protein: ENSMUSP00000138027
Gene: ENSMUSG00000057132
AA Change: Y7*

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 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,894 probably benign Het
Cdc45 A G 16: 18,811,561 F2S probably damaging Het
Cdon A G 9: 35,470,107 R598G possibly damaging Het
Dusp22 C T 13: 30,705,628 T64I probably benign Het
Gfer T A 17: 24,695,929 T47S probably benign Het
Gfra2 T C 14: 70,966,298 S296P possibly damaging Het
Gjb2 G A 14: 57,100,668 L28F probably damaging Het
Gm17782 A G 17: 36,161,790 probably benign Het
Gm2832 T C 14: 41,281,713 V167A unknown Het
Gpr155 A G 2: 73,362,423 probably null Het
Gpr45 A G 1: 43,033,223 H342R probably benign Het
Gsdmd A T 15: 75,863,505 T33S possibly damaging Het
Hal T A 10: 93,497,593 L341Q probably damaging Het
Igfbp7 T G 5: 77,351,332 D273A probably damaging Het
Kdm2a T C 19: 4,343,055 D424G probably benign Het
Kif13a C T 13: 46,864,837 probably benign Het
Krt35 A T 11: 100,094,594 L207Q probably damaging Het
Lrp1b A T 2: 40,919,182 D2572E probably damaging Het
Lrp2 A G 2: 69,492,460 V1848A probably damaging Het
Myo9a T C 9: 59,779,674 Y21H probably damaging Het
Ncan G T 8: 70,110,081 A509E probably benign Het
Olfr450 T C 6: 42,818,274 S268P probably damaging Het
Pde11a G A 2: 76,194,956 probably benign Het
Phf19 G T 2: 34,897,107 D448E probably damaging Het
Ptprj A T 2: 90,452,144 V799D probably damaging Het
Sema3c A G 5: 17,714,415 H483R probably benign Het
Slc4a11 A G 2: 130,685,408 probably benign Het
St3gal1 C A 15: 67,112,617 R103L probably benign Het
Tet2 A T 3: 133,480,298 V1126E possibly damaging Het
Tmem117 A T 15: 95,094,664 I402L probably benign Het
Tmem2 T C 19: 21,835,545 V1038A possibly damaging Het
Ttc28 T A 5: 111,101,960 probably benign Het
Ttn A T 2: 76,871,838 probably benign Het
Vmn1r7 T A 6: 57,024,547 M243L probably benign Het
Wnt1 G T 15: 98,791,833 W167L probably damaging Het
Zfp553 G T 7: 127,236,215 S314I probably damaging Het
Zranb2 T C 3: 157,544,965 probably benign 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
IGL01548:Rpgrip1 APN 14 52126271 splice site probably benign
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 On2013-12-03