Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02869:Ripor2'

362430

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: 0.248) question?

Stock #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

24685513-24917789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24880512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 404 (H404P)

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: H404P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043663
Gene: ENSMUSG00000036006
AA Change: H404P

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
coiled coil region	108	137	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091694

SMART Domains

Protein: ENSMUSP00000089286
Gene: ENSMUSG00000036006

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000110383
AA Change: H379P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: H379P

Domain	Start	End	E-Value	Type
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: H404P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: H404P

Domain	Start	End	E-Value	Type
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

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,685,323 (GRCm39)	S1142T	possibly damaging	Het
Aadacl4fm5	T	C	4: 144,512,938 (GRCm39)	I54V	probably benign	Het
Actr3b	T	G	5: 26,037,433 (GRCm39)	V215G	probably damaging	Het
Adam9	C	T	8: 25,460,634 (GRCm39)	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,596,241 (GRCm39)	P32T	probably damaging	Het
Afg2a	G	T	3: 37,518,694 (GRCm39)	G743W	probably damaging	Het
Ago3	A	T	4: 126,261,580 (GRCm39)		probably benign	Het
Allc	A	C	12: 28,623,206 (GRCm39)	I20M	probably benign	Het
Asic3	G	A	5: 24,621,972 (GRCm39)	W361*	probably null	Het
Atf7ip	A	G	6: 136,583,577 (GRCm39)	K1203E	probably damaging	Het
Babam2	C	A	5: 32,162,116 (GRCm39)	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,807,872 (GRCm39)	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,747,590 (GRCm39)	Y146*	probably null	Het
Cd247	A	G	1: 165,684,986 (GRCm39)	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908 (GRCm39)	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,175,966 (GRCm39)	D76G	probably benign	Het
Cela3a	T	C	4: 137,131,145 (GRCm39)	K198E	probably benign	Het
Cemip2	T	A	19: 21,789,241 (GRCm39)	D558E	probably damaging	Het
Ces2a	T	A	8: 105,465,691 (GRCm39)	D281E	probably damaging	Het
Cetn2	A	T	X: 71,958,527 (GRCm39)	D116E	probably damaging	Het
Cracd	A	G	5: 77,006,890 (GRCm39)	K1084E	unknown	Het
Ctu2	G	T	8: 123,205,530 (GRCm39)		probably null	Het
Cybb	T	C	X: 9,308,828 (GRCm39)	N469D	probably benign	Het
Cygb	C	T	11: 116,540,749 (GRCm39)	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,288,069 (GRCm39)	V186M	possibly damaging	Het
Defb29	T	A	2: 152,380,942 (GRCm39)		probably null	Het
Depdc7	T	G	2: 104,560,694 (GRCm39)	Q100P	probably damaging	Het
Dhx30	A	C	9: 109,926,251 (GRCm39)	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,159,288 (GRCm39)	K105*	probably null	Het
Eddm13	T	C	7: 6,272,898 (GRCm39)		probably benign	Het
Efhc1	T	C	1: 21,037,567 (GRCm39)	I248T	probably damaging	Het
Elapor1	A	G	3: 108,380,182 (GRCm39)	I309T	probably benign	Het
Entpd2	A	G	2: 25,288,120 (GRCm39)	T115A	probably damaging	Het
Epb42	G	T	2: 120,856,227 (GRCm39)	A439E	probably benign	Het
Esm1	T	G	13: 113,346,618 (GRCm39)	L81R	probably damaging	Het
F8	T	C	X: 74,330,987 (GRCm39)	S968G	probably benign	Het
Fam234b	T	G	6: 135,202,201 (GRCm39)	Y308D	probably damaging	Het
Fbxo46	T	G	7: 18,871,139 (GRCm39)	V586G	probably damaging	Het
Foxp1	C	A	6: 98,907,044 (GRCm39)		probably benign	Het
Gm10754	A	T	10: 97,518,136 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,370 (GRCm39)		probably benign	Het
Gm5468	T	C	15: 25,414,726 (GRCm39)		probably benign	Het
Grhl1	T	C	12: 24,631,490 (GRCm39)	S66P	probably damaging	Het
Gstt3	A	T	10: 75,612,576 (GRCm39)		probably null	Het
Gtf2i	A	G	5: 134,308,281 (GRCm39)		probably benign	Het
Gzmk	C	A	13: 113,308,560 (GRCm39)	G175C	probably damaging	Het
Helz2	T	C	2: 180,872,939 (GRCm39)		probably benign	Het
Ift20	T	C	11: 78,430,780 (GRCm39)		probably benign	Het
Intu	A	G	3: 40,642,216 (GRCm39)	D491G	probably damaging	Het
Itch	G	T	2: 155,015,853 (GRCm39)		probably null	Het
Itgb5	A	G	16: 33,665,362 (GRCm39)	N26S	possibly damaging	Het
Lama2	A	T	10: 26,891,534 (GRCm39)	S2526R	probably damaging	Het
Lat2	A	G	5: 134,637,027 (GRCm39)	I40T	probably damaging	Het
Lipa	T	A	19: 34,471,397 (GRCm39)	M393L	probably benign	Het
Lipa	G	T	19: 34,471,371 (GRCm39)		probably benign	Het
Lpcat1	T	A	13: 73,632,417 (GRCm39)	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,679,970 (GRCm39)	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,591,842 (GRCm39)	N50K	unknown	Het
Lrrk2	T	A	15: 91,634,480 (GRCm39)	Y1415N	probably damaging	Het
Lsamp	A	T	16: 41,965,078 (GRCm39)	T312S	probably benign	Het
Man2a2	T	C	7: 80,013,689 (GRCm39)	E454G	probably benign	Het
Mcm3	T	C	1: 20,879,063 (GRCm39)	K570R	probably damaging	Het
Mctp2	C	A	7: 71,878,219 (GRCm39)		probably null	Het
Msantd2	T	G	9: 37,434,796 (GRCm39)	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078 (GRCm39)	I362T	probably benign	Het
Myh15	A	T	16: 48,965,767 (GRCm39)	N1224I	probably benign	Het
Myo18a	A	G	11: 77,755,612 (GRCm39)	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,720,699 (GRCm39)		probably benign	Het
Myrfl	G	T	10: 116,664,909 (GRCm39)	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,818,346 (GRCm39)	Q87H	probably benign	Het
Nol9	G	A	4: 152,131,030 (GRCm39)	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,598,141 (GRCm39)	S219P	probably benign	Het
Or8b43	T	C	9: 38,360,489 (GRCm39)	F107S	possibly damaging	Het
Or8g28	A	T	9: 39,169,520 (GRCm39)	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,631,690 (GRCm39)	D495G	probably damaging	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Plec	A	T	15: 76,065,516 (GRCm39)	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,843,005 (GRCm39)	E47*	probably null	Het
Rbm33	T	A	5: 28,615,753 (GRCm39)	I32N	probably damaging	Het
Rgs12	A	T	5: 35,183,227 (GRCm39)	D310V	probably damaging	Het
Sh3d21	T	C	4: 126,056,034 (GRCm39)	E124G	probably benign	Het
Shroom2	C	T	X: 151,442,549 (GRCm39)	S872N	probably benign	Het
Slc44a5	A	G	3: 153,956,651 (GRCm39)	Y301C	probably damaging	Het
Smap1	A	T	1: 23,930,995 (GRCm39)	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,198,007 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,093,573 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,146 (GRCm39)	R76*	probably null	Het
Stag3	A	G	5: 138,280,955 (GRCm39)	K49R	probably damaging	Het
Stim1	C	A	7: 101,917,758 (GRCm39)	A46E	unknown	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,992,559 (GRCm39)	T114A	probably benign	Het
Tln2	G	A	9: 67,128,807 (GRCm39)		probably benign	Het
Trmt10a	T	A	3: 137,857,945 (GRCm39)		probably null	Het
Vwde	G	A	6: 13,187,136 (GRCm39)	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,137,232 (GRCm39)	T121A	probably benign	Het

Other mutations in Ripor2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-12-18