Incidental Mutation 'IGL02145:Ripor2'
ID281732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ripor2
Ensembl Gene ENSMUSG00000036006
Gene NameRHO family interacting cell polarization regulator 2
Synonyms6330500D04Rik, E430013J17Rik, Fam65b, 1700108N18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.221) question?
Stock #IGL02145
Quality Score
Status
Chromosome13
Chromosomal Location24582189-24733816 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 24717571 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 875 (I875N)
Ref Sequence ENSEMBL: ENSMUSP00000106013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110383] [ENSMUST00000110384]
Predicted Effect probably damaging
Transcript: ENSMUST00000110383
AA Change: I850N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: I850N

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: I875N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: I875N

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 noncoding transcript
Transcript: ENSMUST00000177489
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agt A G 8: 124,564,448 L40P probably damaging Het
Ahnak T C 19: 9,002,855 I501T probably benign Het
Aldh2 A G 5: 121,567,993 *196Q probably null Het
Ankrd65 A G 4: 155,791,391 D23G possibly damaging Het
Anln A T 9: 22,338,996 probably null Het
Armc3 G A 2: 19,286,137 probably null Het
Armc3 C T 2: 19,296,860 S663L possibly damaging Het
Cul5 A T 9: 53,635,075 probably benign Het
Cyba T C 8: 122,425,057 I134V probably damaging Het
Cybb T A X: 9,457,018 Q93H probably damaging Het
Cyp4f37 G T 17: 32,630,035 K292N probably benign Het
Dmxl2 T C 9: 54,374,697 I2850V probably benign Het
Ep300 T C 15: 81,601,166 I118T unknown Het
Ercc6l G T X: 102,145,542 P454T probably benign Het
Grxcr1 A G 5: 68,110,478 E190G probably damaging Het
Heatr3 C T 8: 88,144,599 R194C probably benign Het
Hspa12b C T 2: 131,143,735 probably benign Het
Inpp5d T C 1: 87,715,055 V644A probably damaging Het
Kif26a G A 12: 112,176,975 R1221H probably benign Het
Klra8 T C 6: 130,125,236 N79D probably benign Het
Kntc1 T C 5: 123,762,598 I253T possibly damaging Het
Lamp5 T C 2: 136,059,589 V111A possibly damaging Het
Lmo7 T C 14: 101,902,223 S859P probably benign Het
Mgarp T C 3: 51,389,032 Q205R possibly damaging Het
Morf4l1 A G 9: 90,093,795 Y315H probably benign Het
Naip6 A T 13: 100,296,978 V1117E possibly damaging Het
Nipal1 A G 5: 72,666,931 D206G probably damaging Het
Notch3 A G 17: 32,154,741 S498P probably benign Het
Npepps A G 11: 97,218,502 probably null Het
Olfr310 C A 7: 86,269,258 C177F probably damaging Het
Olfr319 T C 11: 58,702,060 Y120H probably damaging Het
Phlpp1 A G 1: 106,389,883 H1278R probably damaging Het
Pprc1 C A 19: 46,064,890 probably benign Het
Rab8b A T 9: 66,847,718 probably benign Het
Samd9l T C 6: 3,374,105 E1052G probably benign Het
Slit3 A T 11: 35,629,742 I569F probably damaging Het
Spata2l C T 8: 123,234,031 G173D possibly damaging Het
Stc2 T G 11: 31,367,875 probably benign Het
Tm6sf1 C A 7: 81,863,252 Y65* probably null Het
Tspan15 A G 10: 62,193,972 probably benign Het
Vmn2r14 A T 5: 109,220,588 Y179* probably null Het
Washc5 C A 15: 59,369,211 V92L probably benign Het
Wiz A G 17: 32,356,919 S838P probably benign Het
Zp2 T A 7: 120,139,851 probably null Het
Other mutations in Ripor2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Ripor2 APN 13 24701207 missense probably benign 0.11
IGL02351:Ripor2 APN 13 24731589 missense probably damaging 1.00
IGL02358:Ripor2 APN 13 24731589 missense probably damaging 1.00
IGL02377:Ripor2 APN 13 24695566 splice site probably benign
IGL02533:Ripor2 APN 13 24701395 nonsense probably null
IGL02798:Ripor2 APN 13 24674666 missense probably damaging 0.99
IGL02852:Ripor2 APN 13 24695698 missense probably damaging 1.00
IGL02869:Ripor2 APN 13 24696529 missense possibly damaging 0.46
IGL03219:Ripor2 APN 13 24723719 missense probably damaging 1.00
gentleman UTSW 13 24694145 missense probably damaging 1.00
Jack UTSW 13 24677841 nonsense probably null
whitechapel UTSW 13 24673112 critical splice donor site probably null
R0045:Ripor2 UTSW 13 24694226 missense probably damaging 1.00
R0101:Ripor2 UTSW 13 24680632 missense probably damaging 1.00
R0731:Ripor2 UTSW 13 24680644 missense probably damaging 1.00
R0827:Ripor2 UTSW 13 24694186 missense probably damaging 1.00
R1331:Ripor2 UTSW 13 24677841 nonsense probably null
R1374:Ripor2 UTSW 13 24673112 critical splice donor site probably null
R1564:Ripor2 UTSW 13 24675785 missense probably damaging 1.00
R1773:Ripor2 UTSW 13 24701254 missense probably benign 0.10
R1889:Ripor2 UTSW 13 24693887 missense probably damaging 1.00
R2122:Ripor2 UTSW 13 24713718 missense probably damaging 0.98
R2137:Ripor2 UTSW 13 24721834 critical splice donor site probably null
R2209:Ripor2 UTSW 13 24701612 missense probably damaging 1.00
R2242:Ripor2 UTSW 13 24671772 missense probably benign 0.08
R2392:Ripor2 UTSW 13 24706223 missense probably benign 0.00
R2994:Ripor2 UTSW 13 24701627 missense probably damaging 0.98
R4008:Ripor2 UTSW 13 24696538 missense probably benign
R4287:Ripor2 UTSW 13 24725009 missense probably damaging 1.00
R4364:Ripor2 UTSW 13 24721711 missense probably benign 0.07
R4365:Ripor2 UTSW 13 24721711 missense probably benign 0.07
R4366:Ripor2 UTSW 13 24721711 missense probably benign 0.07
R4868:Ripor2 UTSW 13 24694141 missense possibly damaging 0.88
R5304:Ripor2 UTSW 13 24674666 missense probably damaging 0.99
R6119:Ripor2 UTSW 13 24614644 start gained probably benign
R6157:Ripor2 UTSW 13 24701069 missense probably damaging 1.00
R6178:Ripor2 UTSW 13 24710130 missense possibly damaging 0.94
R6382:Ripor2 UTSW 13 24677845 missense possibly damaging 0.89
R6664:Ripor2 UTSW 13 24675820 missense probably damaging 0.98
R6908:Ripor2 UTSW 13 24706232 missense probably damaging 1.00
R7023:Ripor2 UTSW 13 24671846 missense probably benign 0.00
R7041:Ripor2 UTSW 13 24693766 missense probably benign 0.18
R7196:Ripor2 UTSW 13 24704825 missense possibly damaging 0.66
R7216:Ripor2 UTSW 13 24671903 missense probably damaging 1.00
R7248:Ripor2 UTSW 13 24694145 missense probably damaging 1.00
R7299:Ripor2 UTSW 13 24725001 missense possibly damaging 0.54
R7301:Ripor2 UTSW 13 24725001 missense possibly damaging 0.54
R7343:Ripor2 UTSW 13 24701444 nonsense probably null
R7417:Ripor2 UTSW 13 24696550 missense probably damaging 1.00
R7426:Ripor2 UTSW 13 24694205 missense probably benign 0.01
R7448:Ripor2 UTSW 13 24670071 missense possibly damaging 0.71
R7462:Ripor2 UTSW 13 24696307 missense unknown
R7499:Ripor2 UTSW 13 24693772 missense probably damaging 0.99
R8081:Ripor2 UTSW 13 24713700 missense probably benign 0.01
R8157:Ripor2 UTSW 13 24695617 missense probably benign 0.05
R8364:Ripor2 UTSW 13 24710193 missense possibly damaging 0.95
R8447:Ripor2 UTSW 13 24723788 missense probably damaging 1.00
R8465:Ripor2 UTSW 13 24665468 intron probably benign
R8751:Ripor2 UTSW 13 24701067 missense possibly damaging 0.69
R8818:Ripor2 UTSW 13 24717668 missense not run
Posted On2015-04-16