Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03219:Ripor2'

413586

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ripor2

Ensembl Gene

ENSMUSG00000036006

Gene Name

RHO family interacting cell polarization regulator 2

Synonyms

6330500D04Rik, E430013J17Rik, Fam65b, 1700108N18Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL03219

Quality Score

Status

Chromosome

Chromosomal Location

24582189-24733816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24723719 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 991 (Y991F)

Ref Sequence

ENSEMBL: ENSMUSP00000106013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110383] [ENSMUST00000110384]

AlphaFold

Q80U16

Predicted Effect

probably damaging
Transcript: ENSMUST00000110383
AA Change: Y966F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: Y966F

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

probably damaging
Transcript: ENSMUST00000110384
AA Change: Y991F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: Y991F

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

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Clasp2	T	C	9: 113,848,477		probably benign	Het
Ctss	C	T	3: 95,543,100	R121W	possibly damaging	Het
Cyp2c67	A	T	19: 39,643,294	M153K	possibly damaging	Het
Cyp2d34	T	C	15: 82,618,539	H162R	probably benign	Het
Dynlrb2	A	T	8: 116,514,896	I60F	probably benign	Het
E4f1	C	T	17: 24,445,445		probably null	Het
Fzd6	T	A	15: 39,031,576	V379E	probably damaging	Het
Galnt13	T	C	2: 54,933,435	V341A	possibly damaging	Het
Hip1	T	C	5: 135,457,050	S100G	probably benign	Het
Ncapd3	T	C	9: 27,063,873		probably benign	Het
Obox3	G	A	7: 15,625,878	L289F	probably damaging	Het
Olfr605	C	T	7: 103,442,538	G195E	possibly damaging	Het
Olfr914	G	T	9: 38,606,951	C162F	probably benign	Het
Pkhd1l1	G	A	15: 44,596,895	E4167K	possibly damaging	Het
Pphln1	T	C	15: 93,465,255		probably benign	Het
Ranbp6	A	T	19: 29,810,280	W891R	probably damaging	Het
Rgs22	A	T	15: 36,107,048	L64Q	probably damaging	Het
Senp2	T	A	16: 22,014,264		probably benign	Het
Slc44a3	G	A	3: 121,463,520	T508I	probably damaging	Het
Tdrd6	T	C	17: 43,627,964	D731G	probably benign	Het
Thnsl1	T	A	2: 21,212,406	C324S	probably benign	Het
Tnfrsf11b	A	T	15: 54,254,178	L227*	probably null	Het
Tulp4	T	C	17: 6,139,010	C36R	probably damaging	Het

Other mutations in Ripor2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Ripor2	APN	13	24701207	missense	probably benign	0.11
IGL02145:Ripor2	APN	13	24717571	missense	probably damaging	1.00
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
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	possibly damaging	0.93
R8867:Ripor2	UTSW	13	24638777	intron	probably benign
R9079:Ripor2	UTSW	13	24731654	missense	probably benign	0.35
R9187:Ripor2	UTSW	13	24713649	missense	probably benign	0.01
R9316:Ripor2	UTSW	13	24721736	missense	probably benign	0.09
R9320:Ripor2	UTSW	13	24731680	missense	probably damaging	1.00
R9355:Ripor2	UTSW	13	24701711	missense	probably benign	0.00

Posted On

2016-08-02