Incidental Mutation 'R0827:Ripor2'
ID 78340
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 039007-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R0827 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 24685513-24917789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24878169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 315 (F315I)
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: F315I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043663
Gene: ENSMUSG00000036006
AA Change: F315I

DomainStartEndE-ValueType
coiled coil region 108 137 N/A INTRINSIC
low complexity region 461 476 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000058009
AA Change: F315I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051342
Gene: ENSMUSG00000036006
AA Change: F315I

DomainStartEndE-ValueType
coiled coil region 108 137 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000091694
AA Change: F318I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089286
Gene: ENSMUSG00000036006
AA Change: F318I

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: F290I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: F290I

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: F315I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: F315I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138547
Meta Mutation Damage Score 0.9057 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.6%
Validation Efficiency 100% (88/88)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,749,419 (GRCm39) S1397P probably benign Het
Adamts15 T C 9: 30,832,776 (GRCm39) Y253C probably damaging Het
Ankk1 A G 9: 49,333,037 (GRCm39) I149T possibly damaging Het
Ankrd63 A G 2: 118,533,034 (GRCm39) S296P possibly damaging Het
Arpc1b T G 5: 145,062,566 (GRCm39) C227G probably benign Het
B4gat1 A G 19: 5,089,725 (GRCm39) R241G possibly damaging Het
Ccar2 T C 14: 70,377,287 (GRCm39) N751D probably benign Het
Cd55b T C 1: 130,341,973 (GRCm39) I221M probably damaging Het
Cntn5 A G 9: 9,666,943 (GRCm39) V1032A possibly damaging Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Colec10 G A 15: 54,325,980 (GRCm39) C270Y probably damaging Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cyp2j12 T G 4: 96,001,099 (GRCm39) probably benign Het
Dennd5a G A 7: 109,498,938 (GRCm39) T999M probably damaging Het
Dusp13b C A 14: 21,792,839 (GRCm39) V29L probably benign Het
Efr3a A C 15: 65,725,400 (GRCm39) D83A possibly damaging Het
Elmod2 A G 8: 84,043,424 (GRCm39) probably null Het
Eml3 C A 19: 8,915,830 (GRCm39) T640K probably damaging Het
Eps8l1 T C 7: 4,480,388 (GRCm39) V543A possibly damaging Het
Ermn T C 2: 57,938,263 (GRCm39) K117E probably damaging Het
F830045P16Rik A G 2: 129,314,696 (GRCm39) S194P probably benign Het
Faim2 A G 15: 99,422,617 (GRCm39) V60A probably benign Het
Fancd2 G A 6: 113,563,210 (GRCm39) probably null Het
Fbxo43 A T 15: 36,163,115 (GRCm39) S31T possibly damaging Het
Gab2 G A 7: 96,949,539 (GRCm39) R411Q probably damaging Het
Gpm6a A T 8: 55,511,918 (GRCm39) D264V probably damaging Het
H1f6 A G 13: 23,880,204 (GRCm39) D119G probably benign Het
Hsp90aa1 T C 12: 110,659,129 (GRCm39) E556G probably benign Het
Ifi203 A T 1: 173,756,029 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kcnc3 A G 7: 44,244,630 (GRCm39) T307A probably damaging Het
Kin C A 2: 10,095,187 (GRCm39) probably benign Het
Knl1 T C 2: 118,919,382 (GRCm39) probably benign Het
Lrp4 G A 2: 91,325,386 (GRCm39) V1404M probably damaging Het
Lrrc71 T A 3: 87,649,952 (GRCm39) probably null Het
Med13l T C 5: 118,864,312 (GRCm39) probably benign Het
Mfap5 A G 6: 122,497,879 (GRCm39) D39G probably damaging Het
Mlxipl T C 5: 135,161,592 (GRCm39) S504P probably benign Het
Myo3a T G 2: 22,448,227 (GRCm39) Y1D probably damaging Het
Nek1 A G 8: 61,558,682 (GRCm39) probably benign Het
Nfkbiz T C 16: 55,636,730 (GRCm39) R524G probably damaging Het
Npbwr1 T C 1: 5,987,008 (GRCm39) T169A possibly damaging Het
Nuggc T C 14: 65,846,340 (GRCm39) Y84H probably damaging Het
Nxph3 G A 11: 95,402,252 (GRCm39) S54L probably benign Het
Or13a21 A G 7: 139,999,380 (GRCm39) F102S probably damaging Het
Or9e1 T C 11: 58,732,597 (GRCm39) I219T probably damaging Het
Ostn A G 16: 27,143,381 (GRCm39) N70D probably damaging Het
Pate7 A T 9: 35,689,147 (GRCm39) L12Q probably damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pnpla6 A T 8: 3,567,618 (GRCm39) M109L possibly damaging Het
Ppil6 T A 10: 41,370,500 (GRCm39) probably benign Het
Prss46 A G 9: 110,680,500 (GRCm39) N215S probably benign Het
Ptprd A T 4: 76,047,152 (GRCm39) D371E probably damaging Het
Rmi2 G A 16: 10,653,104 (GRCm39) G51S probably damaging Het
Scg3 A G 9: 75,590,979 (GRCm39) I10T possibly damaging Het
Scn9a T A 2: 66,366,468 (GRCm39) K761* probably null Het
Scyl2 A G 10: 89,493,727 (GRCm39) L347P possibly damaging Het
Sh3d21 A G 4: 126,046,064 (GRCm39) probably benign Het
Shc1 T A 3: 89,334,090 (GRCm39) probably null Het
Slbp A G 5: 33,801,166 (GRCm39) S182P probably damaging Het
Slc24a1 C T 9: 64,835,472 (GRCm39) G885D probably benign Het
Slc24a3 T C 2: 145,360,412 (GRCm39) probably benign Het
Sowahb T G 5: 93,191,145 (GRCm39) N525H probably damaging Het
Sppl3 T A 5: 115,220,392 (GRCm39) C101* probably null Het
Srsf5 A G 12: 80,996,314 (GRCm39) K163E probably damaging Het
Sult2a4 A G 7: 13,718,886 (GRCm39) I119T probably benign Het
Svep1 A G 4: 58,053,113 (GRCm39) probably benign Het
Tas1r3 G A 4: 155,945,326 (GRCm39) R632W probably benign Het
Tlr4 T A 4: 66,752,117 (GRCm39) probably null Het
Tmf1 A C 6: 97,135,011 (GRCm39) L1001* probably null Het
Tnnt2 A G 1: 135,771,534 (GRCm39) probably benign Het
Trank1 G A 9: 111,178,485 (GRCm39) probably benign Het
Trdn A T 10: 33,275,154 (GRCm39) probably benign Het
Trmt6 A T 2: 132,657,754 (GRCm39) V34E probably damaging Het
Trrap T C 5: 144,751,640 (GRCm39) F1699L probably benign Het
Ttk A G 9: 83,725,968 (GRCm39) R250G probably benign Het
Ttn T A 2: 76,640,248 (GRCm39) I13787F probably damaging Het
Uggt1 T A 1: 36,195,394 (GRCm39) probably null Het
Ugt2b35 T A 5: 87,155,989 (GRCm39) probably benign Het
Ugt2b36 C A 5: 87,214,234 (GRCm39) R470L possibly damaging Het
Unk A G 11: 115,943,935 (GRCm39) D352G possibly damaging Het
Vmn2r77 G T 7: 86,451,224 (GRCm39) C370F probably damaging Het
Vmn2r85 A G 10: 130,265,387 (GRCm39) I32T possibly damaging Het
Zfp637 A G 6: 117,822,405 (GRCm39) I178V possibly damaging Het
Zfp943 A G 17: 22,211,071 (GRCm39) probably null Het
Zyg11a A G 4: 108,067,239 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGGTCTCTCTGTGTGCAAAGCCTC -3'
(R):5'- CTGAGTGAGCAGTTCAGGTGTGAC -3'

Sequencing Primer
(F):5'- TTAGTTGAGATGCTCTCAGAGCC -3'
(R):5'- AGTTCAGGTGTGACCACTGC -3'
Posted On 2013-10-16