Incidental Mutation 'R4868:Ripor2'
ID 376355
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 042478-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R4868 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 24685513-24917789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24878124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 300 (T300A)
Ref Sequence ENSEMBL: ENSMUSP00000106013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038477] [ENSMUST00000058009] [ENSMUST00000091694] [ENSMUST00000110383] [ENSMUST00000110384] [ENSMUST00000132689]
AlphaFold Q80U16
Predicted Effect possibly damaging
Transcript: ENSMUST00000038477
AA Change: T300A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043663
Gene: ENSMUSG00000036006
AA Change: T300A

DomainStartEndE-ValueType
coiled coil region 108 137 N/A INTRINSIC
low complexity region 461 476 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000058009
AA Change: T300A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051342
Gene: ENSMUSG00000036006
AA Change: T300A

DomainStartEndE-ValueType
coiled coil region 108 137 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091694
AA Change: T303A

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000089286
Gene: ENSMUSG00000036006
AA Change: T303A

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: T275A

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: T275A

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 possibly damaging
Transcript: ENSMUST00000110384
AA Change: T300A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: T300A

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: ENSMUST00000138547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134370
Meta Mutation Damage Score 0.0767 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 99% (91/92)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,436,729 (GRCm39) *299W probably null Het
4933412E24Rik G A 15: 59,887,817 (GRCm39) L208F possibly damaging Het
Abca8b G A 11: 109,865,338 (GRCm39) A373V probably benign Het
Actn3 A T 19: 4,914,482 (GRCm39) W549R probably benign Het
Adamts4 C T 1: 171,080,000 (GRCm39) probably benign Het
Adcy4 T C 14: 56,011,179 (GRCm39) I615V probably benign Het
Akap1 A G 11: 88,735,379 (GRCm39) S428P possibly damaging Het
Akap13 A T 7: 75,393,252 (GRCm39) R2476W probably damaging Het
Alx3 A G 3: 107,507,943 (GRCm39) S151G possibly damaging Het
Aoah T A 13: 21,099,151 (GRCm39) Y243* probably null Het
Asap1 A G 15: 63,966,030 (GRCm39) V1025A probably benign Het
Atp8b1 A T 18: 64,684,937 (GRCm39) I728N probably damaging Het
Baz2b C A 2: 59,755,226 (GRCm39) V1001L possibly damaging Het
Bmpr2 T A 1: 59,909,615 (GRCm39) S1030T probably benign Het
Cacna2d3 A T 14: 28,678,743 (GRCm39) probably null Het
Casp3 A T 8: 47,087,314 (GRCm39) N87I probably benign Het
Ccdc171 T A 4: 83,612,569 (GRCm39) L995Q probably damaging Het
Ccdc80 T A 16: 44,924,776 (GRCm39) Y637N probably damaging Het
Ccr4 A G 9: 114,321,901 (GRCm39) F55L probably benign Het
Cmah T A 13: 24,648,247 (GRCm39) V494E probably damaging Het
Cnot6l A G 5: 96,230,882 (GRCm39) Y362H probably damaging Het
Coq6 T C 12: 84,417,726 (GRCm39) V222A probably damaging Het
Ctdspl2 C A 2: 121,823,879 (GRCm39) T240N possibly damaging Het
D430041D05Rik T C 2: 104,085,754 (GRCm39) T248A possibly damaging Het
Dctn6 A T 8: 34,559,230 (GRCm39) probably benign Het
Dhx34 T C 7: 15,933,727 (GRCm39) D955G probably benign Het
Dnaaf5 A G 5: 139,155,941 (GRCm39) M541V probably benign Het
Dnah17 A T 11: 117,999,038 (GRCm39) S912T probably benign Het
Dnah2 A T 11: 69,354,474 (GRCm39) V2248E probably damaging Het
Dysf T C 6: 84,156,675 (GRCm39) W1502R probably damaging Het
Dzip1 A T 14: 119,114,626 (GRCm39) V843E probably damaging Het
Esp23 G T 17: 39,384,915 (GRCm39) T27K probably benign Het
Esp3 A T 17: 40,944,420 (GRCm39) M21L possibly damaging Het
Fam43b T A 4: 138,123,108 (GRCm39) T71S probably benign Het
Fpgs G A 2: 32,582,673 (GRCm39) R63C probably damaging Het
H2-M11 G T 17: 36,859,811 (GRCm39) W268L probably damaging Het
Inpp5b T C 4: 124,645,203 (GRCm39) S210P probably damaging Het
Itsn1 T A 16: 91,582,205 (GRCm39) S51T probably damaging Het
Kctd2 G A 11: 115,320,205 (GRCm39) V246I probably damaging Het
Krt75 C T 15: 101,476,556 (GRCm39) G403E probably damaging Het
Lamp3 T A 16: 19,520,040 (GRCm39) T48S probably benign Het
Lyzl4 C A 9: 121,412,075 (GRCm39) V114L probably damaging Het
Maml3 C A 3: 52,011,345 (GRCm39) E74* probably null Het
Map2k7 G A 8: 4,297,751 (GRCm39) probably benign Het
Mapk8ip3 A G 17: 25,120,389 (GRCm39) V883A probably benign Het
Mbtps1 C T 8: 120,235,667 (GRCm39) V1004I probably benign Het
Metap1 G T 3: 138,188,850 (GRCm39) H48Q probably damaging Het
Mical2 T A 7: 111,917,831 (GRCm39) V396E probably damaging Het
Mks1 T A 11: 87,744,549 (GRCm39) probably benign Het
Ndst1 T C 18: 60,828,548 (GRCm39) T669A probably benign Het
Obox3 T C 7: 15,361,235 (GRCm39) K10R probably damaging Het
Opn3 T C 1: 175,491,127 (GRCm39) Y302C probably damaging Het
Or4f62 T A 2: 111,986,916 (GRCm39) S207T probably damaging Het
Or6b6 C T 7: 106,570,974 (GRCm39) M192I probably benign Het
Or9g8 T G 2: 85,606,970 (GRCm39) V14G possibly damaging Het
Pdzph1 A T 17: 59,281,751 (GRCm39) V177D probably benign Het
Pex5l T A 3: 33,006,639 (GRCm39) I577F probably damaging Het
Pmpcb T A 5: 21,953,851 (GRCm39) Y366* probably null Het
Prr14l A T 5: 32,987,281 (GRCm39) M738K probably benign Het
Prx T C 7: 27,217,004 (GRCm39) S641P probably benign Het
Ptchd3 A G 11: 121,721,883 (GRCm39) Y252C possibly damaging Het
Reg3a A G 6: 78,358,883 (GRCm39) E27G probably damaging Het
Sdf4 T A 4: 156,093,642 (GRCm39) S259T probably damaging Het
Sike1 A G 3: 102,904,730 (GRCm39) probably null Het
Sis T G 3: 72,850,881 (GRCm39) I606L probably benign Het
Slc30a9 T C 5: 67,482,026 (GRCm39) I94T probably benign Het
Slc5a4a T C 10: 76,014,065 (GRCm39) I424T probably damaging Het
Spx C T 6: 142,362,116 (GRCm39) R72* probably null Het
St7 C A 6: 17,819,265 (GRCm39) N56K probably damaging Het
Tcte2 C A 17: 13,948,270 (GRCm39) G3V probably damaging Het
Tent5b A G 4: 133,213,393 (GRCm39) probably null Het
Tgfb3 T C 12: 86,108,955 (GRCm39) D258G probably benign Het
Timeless G T 10: 128,083,230 (GRCm39) G659V probably benign Het
Tnn T C 1: 159,958,443 (GRCm39) R467G possibly damaging Het
Tor1b T C 2: 30,846,589 (GRCm39) probably null Het
Trank1 T A 9: 111,194,709 (GRCm39) L911Q probably damaging Het
Ttll2 C T 17: 7,618,998 (GRCm39) V310I probably benign Het
Ttyh3 A T 5: 140,615,221 (GRCm39) I389N probably damaging Het
Tut4 T C 4: 108,406,417 (GRCm39) probably benign Het
Ube3b T C 5: 114,536,488 (GRCm39) V216A probably benign Het
Vezf1 T A 11: 87,965,520 (GRCm39) V254E probably damaging Het
Vmn1r122 T C 7: 20,867,227 (GRCm39) E276G probably benign Het
Vmn1r167 T A 7: 23,204,161 (GRCm39) N285I probably benign Het
Vmn2r45 T A 7: 8,484,480 (GRCm39) I442F probably benign Het
Vwa8 C A 14: 79,420,522 (GRCm39) A1741E probably damaging Het
Wdr20 T A 12: 110,704,668 (GRCm39) V69E probably damaging Het
Xkr4 T G 1: 3,287,074 (GRCm39) Q372P probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CCATAGGTCTCTCTGTGTGC -3'
(R):5'- ATTCTGAGTGAGCAGTTCAGG -3'

Sequencing Primer
(F):5'- CATAGGTCTCTCTGTGTGCAAAGC -3'
(R):5'- AGTTCAGGTGTGACCACTGCTC -3'
Posted On 2016-03-17