Incidental Mutation 'R7417:Ripor2'
ID 575404
Institutional Source Beutler Lab
Gene Symbol Ripor2
Ensembl Gene ENSMUSG00000036006
Gene Name RHO family interacting cell polarization regulator 2
Synonyms 1700108N18Rik, E430013J17Rik, Fam65b, 6330500D04Rik
MMRRC Submission 045495-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R7417 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 24685513-24917789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24880533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 411 (D411G)
Ref Sequence ENSEMBL: ENSMUSP00000106013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038477] [ENSMUST00000058009] [ENSMUST00000091694] [ENSMUST00000110383] [ENSMUST00000110384] [ENSMUST00000132689]
AlphaFold Q80U16
Predicted Effect probably damaging
Transcript: ENSMUST00000038477
AA Change: D411G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043663
Gene: ENSMUSG00000036006
AA Change: D411G

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
SMART Domains Protein: ENSMUSP00000089286
Gene: ENSMUSG00000036006

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 damaging
Transcript: ENSMUST00000110383
AA Change: D386G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: D386G

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 damaging
Transcript: ENSMUST00000110384
AA Change: D411G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: D411G

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
Meta Mutation Damage Score 0.1681 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (79/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,460,057 (GRCm39) T213I probably damaging Het
Akr1b7 G A 6: 34,394,300 (GRCm39) probably null Het
Aldh6a1 T C 12: 84,488,556 (GRCm39) Q110R probably benign Het
Alg11 A T 8: 22,552,044 (GRCm39) T63S probably benign Het
Ankrd13b A G 11: 77,367,020 (GRCm39) Y271H probably damaging Het
Ano8 T A 8: 71,933,477 (GRCm39) D605V unknown Het
Best2 C T 8: 85,736,295 (GRCm39) probably null Het
Brca1 A G 11: 101,415,807 (GRCm39) S776P probably damaging Het
Capn7 T C 14: 31,092,663 (GRCm39) Y737H probably damaging Het
Cblc A T 7: 19,522,899 (GRCm39) S333T probably benign Het
Ccm2 T A 11: 6,543,091 (GRCm39) M257K probably benign Het
Cd320 T A 17: 34,066,530 (GRCm39) C103* probably null Het
Cd53 A G 3: 106,676,235 (GRCm39) F44S probably benign Het
Col9a2 G A 4: 120,911,489 (GRCm39) R610H not run Het
Cubn T C 2: 13,431,778 (GRCm39) I1272V probably benign Het
Cyp2j7 C T 4: 96,090,225 (GRCm39) probably null Het
Dmrt2 A T 19: 25,655,962 (GRCm39) R520S probably benign Het
Dnai3 A T 3: 145,798,835 (GRCm39) probably null Het
Drg2 A G 11: 60,345,506 (GRCm39) M1V probably null Het
Ect2 A G 3: 27,152,568 (GRCm39) S908P probably damaging Het
Eipr1 A G 12: 28,916,954 (GRCm39) T341A probably benign Het
Ell3 A C 2: 121,270,891 (GRCm39) I214R probably benign Het
Emsy A T 7: 98,264,693 (GRCm39) L568Q probably damaging Het
Foxd4 T C 19: 24,877,826 (GRCm39) T125A probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Gcsam C A 16: 45,440,240 (GRCm39) H94Q probably damaging Het
Ginm1 T A 10: 7,649,844 (GRCm39) I150F probably damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hk2 G A 6: 82,720,326 (GRCm39) A205V probably damaging Het
Il3ra A T 14: 14,349,345 (GRCm38) H147L probably benign Het
Map3k6 T A 4: 132,975,707 (GRCm39) S732T probably benign Het
Masp2 A G 4: 148,690,178 (GRCm39) E229G probably benign Het
Mccc2 A G 13: 100,108,285 (GRCm39) probably null Het
Mia3 A G 1: 183,108,508 (GRCm39) V359A Het
Mob1a A T 6: 83,309,492 (GRCm39) T80S probably benign Het
Msantd2 G A 9: 37,434,590 (GRCm39) G478S probably damaging Het
Mtf1 A G 4: 124,718,974 (GRCm39) E329G probably null Het
Myh9 T A 15: 77,648,065 (GRCm39) K1804* probably null Het
Ndst3 A G 3: 123,465,313 (GRCm39) W220R probably damaging Het
Nln A G 13: 104,173,478 (GRCm39) L576P probably damaging Het
Nlrc4 A G 17: 74,753,483 (GRCm39) M300T probably benign Het
Obscn G T 11: 59,020,403 (GRCm39) D880E possibly damaging Het
Oprd1 T C 4: 131,844,763 (GRCm39) T82A probably damaging Het
Or2n1d T A 17: 38,646,183 (GRCm39) I45N probably damaging Het
Or4f60 A C 2: 111,902,445 (GRCm39) V161G probably benign Het
Orc3 A G 4: 34,595,136 (GRCm39) C278R probably damaging Het
Pde4d T A 13: 109,769,322 (GRCm39) probably null Het
Pms1 T C 1: 53,236,231 (GRCm39) E683G probably benign Het
Prdm2 A T 4: 142,905,869 (GRCm39) Y73N probably damaging Het
Prkaa2 T C 4: 104,932,740 (GRCm39) Q36R probably benign Het
Psg22 A G 7: 18,456,891 (GRCm39) E258G probably damaging Het
Ptprf T C 4: 118,069,369 (GRCm39) D1566G probably damaging Het
Rfwd3 T A 8: 111,999,701 (GRCm39) Y759F probably benign Het
Ryr2 A C 13: 11,571,634 (GRCm39) probably null Het
Sdr42e1 T C 8: 118,389,490 (GRCm39) T384A probably benign Het
Sec1 A T 7: 45,334,149 (GRCm39) probably null Het
Sec16a A T 2: 26,311,409 (GRCm39) F616I Het
Sipa1l2 T C 8: 126,208,845 (GRCm39) D521G possibly damaging Het
Smc1b T A 15: 84,981,743 (GRCm39) Q759L probably benign Het
Snph A T 2: 151,442,263 (GRCm39) S57R probably damaging Het
Sqor A T 2: 122,629,450 (GRCm39) T103S probably benign Het
Srbd1 A G 17: 86,443,749 (GRCm39) V159A probably benign Het
Srsf2 A T 11: 116,743,727 (GRCm39) V10E probably damaging Het
Swap70 T A 7: 109,863,316 (GRCm39) probably null Het
Synm A C 7: 67,382,954 (GRCm39) *675G probably null Het
Tek A G 4: 94,699,582 (GRCm39) E320G probably benign Het
Tenm3 T C 8: 48,689,218 (GRCm39) D2123G probably damaging Het
Tmod4 A G 3: 95,033,174 (GRCm39) K56R possibly damaging Het
Top3b G A 16: 16,695,714 (GRCm39) probably benign Het
Tssc4 G T 7: 142,624,425 (GRCm39) E244D possibly damaging Het
Twnk G A 19: 44,999,003 (GRCm39) probably null Het
Ube4a A C 9: 44,868,011 (GRCm39) I45S probably benign Het
Unc79 A T 12: 103,055,017 (GRCm39) M954L possibly damaging Het
Vcpip1 A T 1: 9,816,540 (GRCm39) D614E probably benign Het
Vmn1r45 T A 6: 89,910,035 (GRCm39) I312L probably benign Het
Vmn1r77 A G 7: 11,775,611 (GRCm39) Y129C probably damaging Het
Zer1 A G 2: 29,992,834 (GRCm39) L600P probably damaging Het
Zfp266 T C 9: 20,412,232 (GRCm39) T114A probably benign Het
Zrsr2-ps1 T C 11: 22,924,662 (GRCm39) probably null Het
Other mutations in Ripor2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Ripor2 APN 13 24,885,190 (GRCm39) missense probably benign 0.11
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
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
Predicted Primers PCR Primer
(F):5'- CCGAGCATTCTACGACATGAATC -3'
(R):5'- CATGCAAGACCATGCTTCCC -3'

Sequencing Primer
(F):5'- TGAATGACGCCTGCTTGAC -3'
(R):5'- TGCTTCCCACCCCAAGG -3'
Posted On 2019-10-07