Mutagenetix > Incidental Mutation

Incidental Mutation 'R4287:Ripor2'

322073

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

041652-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R4287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24685513-24917789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24908992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1037 (V1037M)

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: V1012M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106012
Gene: ENSMUSG00000036006
AA Change: V1012M

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: V1037M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106013
Gene: ENSMUSG00000036006
AA Change: V1037M

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

Meta Mutation Damage Score

0.1304

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (40/41)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc5	A	G	5: 122,938,664 (GRCm39)	V362A	probably benign	Het
Ash1l	T	A	3: 88,973,722 (GRCm39)	C2594S	probably damaging	Het
Ccdc82	C	A	9: 13,253,043 (GRCm39)	Q303K	probably benign	Het
Cog1	A	G	11: 113,544,853 (GRCm39)	Y345C	probably damaging	Het
Fpgt	T	C	3: 154,796,997 (GRCm39)		probably benign	Het
Glrb	A	T	3: 80,752,539 (GRCm39)	V408D	possibly damaging	Het
Gm7135	A	G	1: 97,328,123 (GRCm39)		noncoding transcript	Het
Il1rn	T	C	2: 24,239,557 (GRCm39)	L151P	probably damaging	Het
Itgav	G	T	2: 83,555,184 (GRCm39)	E36*	probably null	Het
Kidins220	G	A	12: 25,106,845 (GRCm39)	E1433K	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klra3	A	G	6: 130,311,265 (GRCm39)	C39R	probably benign	Het
Lce1i	A	G	3: 92,684,742 (GRCm39)	S145P	unknown	Het
Memo1	T	C	17: 74,562,293 (GRCm39)		probably null	Het
Mpp3	G	A	11: 101,914,289 (GRCm39)	A102V	probably damaging	Het
Mug2	T	A	6: 122,040,632 (GRCm39)	D727E	probably benign	Het
Ndufb8	T	C	19: 44,541,130 (GRCm39)	I107V	probably benign	Het
Or5h18	A	T	16: 58,847,976 (GRCm39)	M98K	probably benign	Het
Pnn	C	T	12: 59,118,956 (GRCm39)	T513I	possibly damaging	Het
Ric8a	A	G	7: 140,441,335 (GRCm39)	Y210C	probably damaging	Het
Rreb1	A	T	13: 38,115,907 (GRCm39)	T1089S	probably benign	Het
Rrs1	C	T	1: 9,616,440 (GRCm39)	S231L	probably damaging	Het
Rrs1	C	T	1: 9,616,448 (GRCm39)	R234C	possibly damaging	Het
Sec23ip	A	G	7: 128,379,057 (GRCm39)	D838G	probably benign	Het
Setbp1	T	C	18: 78,902,276 (GRCm39)	I464V	probably benign	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
Slc41a3	A	T	6: 90,617,904 (GRCm39)	H310L	probably benign	Het
Smurf1	A	G	5: 144,828,268 (GRCm39)	S363P	probably benign	Het
Tln1	C	T	4: 43,543,509 (GRCm39)	R1269Q	probably benign	Het
Tmed3	A	G	9: 89,586,951 (GRCm39)	S10P	probably benign	Het
Tomm70a	T	G	16: 56,960,985 (GRCm39)	Y313D	probably damaging	Het
Umodl1	A	G	17: 31,207,039 (GRCm39)	E810G	probably benign	Het
Unc5c	T	C	3: 141,420,435 (GRCm39)	I52T	probably damaging	Het
Unc5d	T	A	8: 29,209,824 (GRCm39)	Y432F	probably benign	Het
Vmn2r97	A	T	17: 19,168,337 (GRCm39)		probably benign	Het
Zfp629	T	C	7: 127,211,110 (GRCm39)	Y233C	probably damaging	Het
Zfp986	T	C	4: 145,619,088 (GRCm39)		probably null	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
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
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'- GTGAACCAATTCTTCACCCG -3'
(R):5'- GTGCAAGATCTGGACACAATCG -3'

Sequencing Primer
(F):5'- GTTGTTTCAATCCAAGCACAAGAG -3'
(R):5'- GCAAGATCTGGACACAATCGATTTC -3'

Posted On

2015-06-20