Incidental Mutation 'IGL01099:Ripor2'
ID 52562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ripor2
Ensembl Gene ENSMUSG00000036006
Gene Name RHO family interacting cell polarization regulator 2
Synonyms 1700108N18Rik, E430013J17Rik, Fam65b, 6330500D04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # IGL01099
Quality Score
Status
Chromosome 13
Chromosomal Location 24685513-24917789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24885190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 436 (H436L)
Ref Sequence ENSEMBL: ENSMUSP00000089286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038477] [ENSMUST00000058009] [ENSMUST00000091694] [ENSMUST00000110383] [ENSMUST00000110384] [ENSMUST00000132689]
AlphaFold Q80U16
Predicted Effect probably benign
Transcript: ENSMUST00000038477
AA Change: H475L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000043663
Gene: ENSMUSG00000036006
AA Change: H475L

DomainStartEndE-ValueType
coiled coil region 108 137 N/A INTRINSIC
low complexity region 461 476 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000058009
SMART Domains Protein: ENSMUSP00000051342
Gene: ENSMUSG00000036006

DomainStartEndE-ValueType
coiled coil region 108 137 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091694
AA Change: H436L

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000089286
Gene: ENSMUSG00000036006
AA Change: H436L

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
coiled coil region 111 140 N/A INTRINSIC
low complexity region 422 437 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110383
AA Change: H450L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: H450L

DomainStartEndE-ValueType
coiled coil region 83 112 N/A INTRINSIC
low complexity region 436 451 N/A INTRINSIC
low complexity region 630 639 N/A INTRINSIC
low complexity region 657 672 N/A INTRINSIC
low complexity region 857 864 N/A INTRINSIC
SCOP:d1gw5a_ 901 1023 2e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110384
AA Change: H475L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: H475L

DomainStartEndE-ValueType
Pfam:PL48 41 389 6e-174 PFAM
low complexity region 461 476 N/A INTRINSIC
low complexity region 655 664 N/A INTRINSIC
low complexity region 682 697 N/A INTRINSIC
low complexity region 882 889 N/A INTRINSIC
SCOP:d1gw5a_ 926 1048 2e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134370
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 an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous knockout mice are deaf. The gene product is expressed in the basal region of cochlear hair cell stereocillia, which are disorganized and malformed in null mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,965,031 (GRCm39) probably benign Het
Adam28 A G 14: 68,874,778 (GRCm39) probably null Het
Adcy10 A G 1: 165,367,411 (GRCm39) I560M probably benign Het
Alpl G A 4: 137,470,624 (GRCm39) probably benign Het
Ank1 G A 8: 23,598,265 (GRCm39) G753D probably damaging Het
Arhgef28 A T 13: 98,090,480 (GRCm39) probably benign Het
Bmp7 A T 2: 172,717,055 (GRCm39) C329S probably damaging Het
Capn13 T C 17: 73,658,504 (GRCm39) D188G probably damaging Het
Car10 G A 11: 93,469,516 (GRCm39) E164K possibly damaging Het
Cfhr1 T A 1: 139,475,497 (GRCm39) probably benign Het
Col11a1 C T 3: 113,905,690 (GRCm39) R562* probably null Het
Colec12 C T 18: 9,848,826 (GRCm39) R335C probably damaging Het
Cyb561d2 C T 9: 107,417,488 (GRCm39) probably null Het
Epb41l3 A G 17: 69,517,188 (GRCm39) D72G possibly damaging Het
Etl4 T C 2: 20,811,922 (GRCm39) L1335P probably benign Het
F5 T G 1: 164,021,903 (GRCm39) N1459K probably damaging Het
Fam161a T C 11: 22,965,894 (GRCm39) probably benign Het
Flnc G A 6: 29,433,617 (GRCm39) V54M probably damaging Het
Fndc3b T C 3: 27,517,966 (GRCm39) I607V probably benign Het
Fscb A G 12: 64,518,875 (GRCm39) S864P unknown Het
Glod4 T A 11: 76,130,376 (GRCm39) K36* probably null Het
Gm6619 G A 6: 131,467,393 (GRCm39) R86Q possibly damaging Het
Gm7052 T C 17: 22,258,706 (GRCm39) probably benign Het
Gyg1 A T 3: 20,205,211 (GRCm39) M119K probably benign Het
Ifit2 A T 19: 34,550,702 (GRCm39) I81F probably damaging Het
Insr T C 8: 3,308,682 (GRCm39) Y118C probably damaging Het
Katnip T A 7: 125,464,492 (GRCm39) H1286Q probably damaging Het
Kcnh3 T C 15: 99,137,617 (GRCm39) S771P probably benign Het
Kndc1 C A 7: 139,500,700 (GRCm39) H688Q probably damaging Het
Mybpc2 A G 7: 44,165,591 (GRCm39) C330R probably damaging Het
Naa50 A T 16: 43,976,832 (GRCm39) N23I probably damaging Het
Nt5el A T 13: 105,245,868 (GRCm39) H143L probably benign Het
Or55b4 T A 7: 102,133,685 (GRCm39) D214V probably damaging Het
Or5a1 A G 19: 12,097,240 (GRCm39) S279P probably damaging Het
Or8b48 T C 9: 38,493,373 (GRCm39) S267P probably benign Het
Or8c16 T C 9: 38,131,039 (GRCm39) S307P probably benign Het
Pfkp A T 13: 6,653,426 (GRCm39) probably benign Het
Phlda2 G A 7: 143,055,876 (GRCm39) probably null Het
Plxnd1 C A 6: 115,946,906 (GRCm39) V823L probably benign Het
Prpf40a T A 2: 53,031,847 (GRCm39) H794L probably benign Het
Rnf138 T A 18: 21,153,970 (GRCm39) C159S possibly damaging Het
Scn7a A T 2: 66,514,582 (GRCm39) V1064D probably damaging Het
Slc12a2 T A 18: 58,039,092 (GRCm39) C557* probably null Het
Slc1a6 T C 10: 78,624,831 (GRCm39) S79P possibly damaging Het
Snapin G A 3: 90,397,909 (GRCm39) probably benign Het
Tdp1 A T 12: 99,881,704 (GRCm39) probably benign Het
Tigar G T 6: 127,065,108 (GRCm39) A180E probably benign Het
Trav6-2 A T 14: 52,905,122 (GRCm39) T48S probably benign Het
Ttn A G 2: 76,558,776 (GRCm39) Y29702H probably damaging Het
Ush1c A G 7: 45,854,686 (GRCm39) S689P probably damaging Het
Vmn1r40 A T 6: 89,691,578 (GRCm39) I132F probably damaging Het
Vmn1r85 T A 7: 12,818,461 (GRCm39) K228* probably null Het
Wdr33 C A 18: 32,039,842 (GRCm39) probably benign Het
Ybx2 A T 11: 69,831,556 (GRCm39) Q136L probably damaging Het
Ypel1 T A 16: 16,909,076 (GRCm39) M368L probably damaging Het
Other mutations in Ripor2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02145:Ripor2 APN 13 24,901,554 (GRCm39) missense probably damaging 1.00
IGL02351:Ripor2 APN 13 24,915,572 (GRCm39) missense probably damaging 1.00
IGL02358:Ripor2 APN 13 24,915,572 (GRCm39) missense probably damaging 1.00
IGL02377:Ripor2 APN 13 24,879,549 (GRCm39) splice site probably benign
IGL02533:Ripor2 APN 13 24,885,378 (GRCm39) nonsense probably null
IGL02798:Ripor2 APN 13 24,858,649 (GRCm39) missense probably damaging 0.99
IGL02852:Ripor2 APN 13 24,879,681 (GRCm39) missense probably damaging 1.00
IGL02869:Ripor2 APN 13 24,880,512 (GRCm39) missense possibly damaging 0.46
IGL03219:Ripor2 APN 13 24,907,702 (GRCm39) missense probably damaging 1.00
gentleman UTSW 13 24,878,128 (GRCm39) missense probably damaging 1.00
Jack UTSW 13 24,861,824 (GRCm39) nonsense probably null
whitechapel UTSW 13 24,857,095 (GRCm39) critical splice donor site probably null
R0045:Ripor2 UTSW 13 24,878,209 (GRCm39) missense probably damaging 1.00
R0101:Ripor2 UTSW 13 24,864,615 (GRCm39) missense probably damaging 1.00
R0731:Ripor2 UTSW 13 24,864,627 (GRCm39) missense probably damaging 1.00
R0827:Ripor2 UTSW 13 24,878,169 (GRCm39) missense probably damaging 1.00
R1331:Ripor2 UTSW 13 24,861,824 (GRCm39) nonsense probably null
R1374:Ripor2 UTSW 13 24,857,095 (GRCm39) critical splice donor site probably null
R1564:Ripor2 UTSW 13 24,859,768 (GRCm39) missense probably damaging 1.00
R1773:Ripor2 UTSW 13 24,885,237 (GRCm39) missense probably benign 0.10
R1889:Ripor2 UTSW 13 24,877,870 (GRCm39) missense probably damaging 1.00
R2122:Ripor2 UTSW 13 24,897,701 (GRCm39) missense probably damaging 0.98
R2137:Ripor2 UTSW 13 24,905,817 (GRCm39) critical splice donor site probably null
R2209:Ripor2 UTSW 13 24,885,595 (GRCm39) missense probably damaging 1.00
R2242:Ripor2 UTSW 13 24,855,755 (GRCm39) missense probably benign 0.08
R2392:Ripor2 UTSW 13 24,890,206 (GRCm39) missense probably benign 0.00
R2994:Ripor2 UTSW 13 24,885,610 (GRCm39) missense probably damaging 0.98
R4008:Ripor2 UTSW 13 24,880,521 (GRCm39) missense probably benign
R4287:Ripor2 UTSW 13 24,908,992 (GRCm39) missense probably damaging 1.00
R4364:Ripor2 UTSW 13 24,905,694 (GRCm39) missense probably benign 0.07
R4365:Ripor2 UTSW 13 24,905,694 (GRCm39) missense probably benign 0.07
R4366:Ripor2 UTSW 13 24,905,694 (GRCm39) missense probably benign 0.07
R4868:Ripor2 UTSW 13 24,878,124 (GRCm39) missense possibly damaging 0.88
R5304:Ripor2 UTSW 13 24,858,649 (GRCm39) missense probably damaging 0.99
R6119:Ripor2 UTSW 13 24,798,627 (GRCm39) start gained probably benign
R6157:Ripor2 UTSW 13 24,885,052 (GRCm39) missense probably damaging 1.00
R6178:Ripor2 UTSW 13 24,894,113 (GRCm39) missense possibly damaging 0.94
R6382:Ripor2 UTSW 13 24,861,828 (GRCm39) missense possibly damaging 0.89
R6664:Ripor2 UTSW 13 24,859,803 (GRCm39) missense probably damaging 0.98
R6908:Ripor2 UTSW 13 24,890,215 (GRCm39) missense probably damaging 1.00
R7023:Ripor2 UTSW 13 24,855,829 (GRCm39) missense probably benign 0.00
R7041:Ripor2 UTSW 13 24,877,749 (GRCm39) missense probably benign 0.18
R7196:Ripor2 UTSW 13 24,888,808 (GRCm39) missense possibly damaging 0.66
R7216:Ripor2 UTSW 13 24,855,886 (GRCm39) missense probably damaging 1.00
R7248:Ripor2 UTSW 13 24,878,128 (GRCm39) missense probably damaging 1.00
R7299:Ripor2 UTSW 13 24,908,984 (GRCm39) missense possibly damaging 0.54
R7301:Ripor2 UTSW 13 24,908,984 (GRCm39) missense possibly damaging 0.54
R7343:Ripor2 UTSW 13 24,885,427 (GRCm39) nonsense probably null
R7417:Ripor2 UTSW 13 24,880,533 (GRCm39) missense probably damaging 1.00
R7426:Ripor2 UTSW 13 24,878,188 (GRCm39) missense probably benign 0.01
R7448:Ripor2 UTSW 13 24,854,054 (GRCm39) missense possibly damaging 0.71
R7462:Ripor2 UTSW 13 24,880,290 (GRCm39) missense unknown
R7499:Ripor2 UTSW 13 24,877,755 (GRCm39) missense probably damaging 0.99
R8081:Ripor2 UTSW 13 24,897,683 (GRCm39) missense probably benign 0.01
R8157:Ripor2 UTSW 13 24,879,600 (GRCm39) missense probably benign 0.05
R8364:Ripor2 UTSW 13 24,894,176 (GRCm39) missense possibly damaging 0.95
R8447:Ripor2 UTSW 13 24,907,771 (GRCm39) missense probably damaging 1.00
R8465:Ripor2 UTSW 13 24,849,451 (GRCm39) intron probably benign
R8751:Ripor2 UTSW 13 24,885,050 (GRCm39) missense possibly damaging 0.69
R8818:Ripor2 UTSW 13 24,901,651 (GRCm39) missense possibly damaging 0.93
R8867:Ripor2 UTSW 13 24,822,760 (GRCm39) intron probably benign
R9079:Ripor2 UTSW 13 24,915,637 (GRCm39) missense probably benign 0.35
R9187:Ripor2 UTSW 13 24,897,632 (GRCm39) missense probably benign 0.01
R9316:Ripor2 UTSW 13 24,905,719 (GRCm39) missense probably benign 0.09
R9320:Ripor2 UTSW 13 24,915,663 (GRCm39) missense probably damaging 1.00
R9355:Ripor2 UTSW 13 24,885,694 (GRCm39) missense probably benign 0.00
R9655:Ripor2 UTSW 13 24,908,983 (GRCm39) missense possibly damaging 0.67
Posted On 2013-06-21