Mutagenetix > Incidental Mutations

Incidental Mutation 'R1687:Arhgap42'

189427

Institutional Source

Beutler Lab

Gene Symbol

Arhgap42

Ensembl Gene

ENSMUSG00000050730

Gene Name

Rho GTPase activating protein 42

Synonyms

9030420J04Rik

MMRRC Submission

039720-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.914) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8994329-9239101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9035537 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 268 (V268D)

Ref Sequence

ENSEMBL: ENSMUSP00000091419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093893]

Predicted Effect

probably benign
Transcript: ENSMUST00000093893
AA Change: V268D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: V268D

Domain	Start	End	E-Value	Type
Pfam:BAR_3	6	132	4.4e-36	PFAM
Pfam:BAR_3	125	215	8.9e-29	PFAM
PH	232	342	5.5e-8	SMART
RhoGAP	358	535	1.4e-55	SMART
low complexity region	583	596	N/A	INTRINSIC
low complexity region	599	616	N/A	INTRINSIC
Blast:RhoGAP	617	691	2e-37	BLAST
low complexity region	692	711	N/A	INTRINSIC
SH3	786	840	7.4e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182617

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit hypertension and increased vascular smooth muscle contractility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,888	F931I	probably benign	Het
Alox15	T	A	11: 70,349,918	H212L	probably benign	Het
Armc9	A	G	1: 86,156,955	M1V	probably null	Het
BB287469	A	G	12: 87,819,718	D133G	unknown	Het
Brca1	C	T	11: 101,489,840	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,736,759	V138A	probably benign	Het
Camsap1	A	G	2: 25,939,615	F699S	probably damaging	Het
Ccm2	A	G	11: 6,585,118	R67G	probably damaging	Het
Cdk16	G	A	X: 20,696,659		probably null	Het
Cep85	T	C	4: 134,148,013	H546R	probably benign	Het
Cfap54	T	C	10: 92,932,640	D207G	probably damaging	Het
Cldn9	G	T	17: 23,683,076	R192S	probably benign	Het
Crybb3	A	G	5: 113,079,767	S63P	probably damaging	Het
Cux1	A	G	5: 136,312,669	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407		probably benign	Het
Dnah3	A	T	7: 120,045,786		probably null	Het
Eml6	G	A	11: 29,833,187	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,617,366	V610A	probably benign	Het
Fam234a	T	C	17: 26,215,308	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,227,106	V154I	probably benign	Het
Frem2	A	T	3: 53,653,952	W1045R	probably benign	Het
Fubp1	A	G	3: 152,228,201		probably benign	Het
Gja3	T	A	14: 57,036,876	N13I	probably damaging	Het
Gpr20	C	A	15: 73,695,902	V213L	probably benign	Het
Grk5	T	C	19: 61,076,783	I295T	probably damaging	Het
Gucy1b1	A	G	3: 82,038,042	F430L	probably damaging	Het
Gzmk	T	A	13: 113,173,928	I119L	probably benign	Het
Hadh	T	C	3: 131,245,249	I153V	probably benign	Het
Hsfy2	T	C	1: 56,636,853	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,775,824	I560T	probably benign	Het
Igdcc4	T	C	9: 65,131,663	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,632,872	D216G	probably benign	Het
Klc2	G	A	19: 5,111,654	P303S	probably damaging	Het
Lama5	C	T	2: 180,194,066	V1192I	probably benign	Het
Mon2	A	G	10: 123,026,124	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,672,478	L96Q	probably damaging	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,520,585	I726T	probably damaging	Het
Ndnf	A	T	6: 65,703,423	T229S	probably benign	Het
Npas3	A	T	12: 54,048,875		probably null	Het
Nrap	C	T	19: 56,355,529	E729K	probably damaging	Het
Nsun2	T	A	13: 69,627,597	F387I	probably damaging	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 164,044,306	T452M	probably benign	Het
Pcdh10	T	C	3: 45,380,015	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,700,019	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,884,704		probably benign	Het
Pkp2	T	C	16: 16,268,709		probably null	Het
Ppard	A	G	17: 28,297,180	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,290,533	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,270,279	T287A	probably damaging	Het
Sema4b	T	C	7: 80,219,262	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,982,157	I640N	probably damaging	Het
Smurf2	C	A	11: 106,836,070		probably null	Het
Spag5	T	C	11: 78,304,929	V354A	probably benign	Het
Sptb	T	C	12: 76,603,699	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,981,250	L22F	probably benign	Het
Sugp2	T	C	8: 70,242,634	S86P	probably damaging	Het
Tnk1	T	C	11: 69,856,473	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,939,626	I541F	possibly damaging	Het
Trim36	G	T	18: 46,188,657	H108N	possibly damaging	Het
Ttn	T	C	2: 76,870,907		probably benign	Het
Usp28	T	A	9: 49,024,017	S89R	probably benign	Het
Vmn2r121	T	C	X: 124,132,791	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,940,818	Y630F	probably benign	Het
Washc2	T	A	6: 116,256,712	S900T	probably benign	Het
Wdr72	A	G	9: 74,210,199	N731S	probably benign	Het
Xrra1	T	A	7: 99,876,244	F123L	probably damaging	Het
Zfp648	A	G	1: 154,204,242	D49G	probably benign	Het

Other mutations in Arhgap42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Arhgap42	APN	9	9006343	missense	probably damaging	1.00
IGL00576:Arhgap42	APN	9	8997620	nonsense	probably null
IGL01693:Arhgap42	APN	9	9006506	missense	probably damaging	1.00
IGL01724:Arhgap42	APN	9	8998253	splice site	probably benign
IGL02142:Arhgap42	APN	9	9155359	missense	probably damaging	1.00
IGL02378:Arhgap42	APN	9	9035583	missense	possibly damaging	0.94
IGL02932:Arhgap42	APN	9	9115708	missense	probably damaging	0.98
IGL02992:Arhgap42	APN	9	8998248	splice site	probably benign
IGL03149:Arhgap42	APN	9	9008084	missense	possibly damaging	0.71
R0096:Arhgap42	UTSW	9	9009313	missense	probably damaging	1.00
R0096:Arhgap42	UTSW	9	9009313	missense	probably damaging	1.00
R0417:Arhgap42	UTSW	9	9180033	missense	possibly damaging	0.55
R0513:Arhgap42	UTSW	9	9005765	missense	probably benign	0.07
R1212:Arhgap42	UTSW	9	9015312	missense	probably damaging	1.00
R1493:Arhgap42	UTSW	9	9030797	missense	probably benign	0.01
R1499:Arhgap42	UTSW	9	9033586	splice site	probably benign
R1674:Arhgap42	UTSW	9	9006584	missense	probably damaging	0.99
R1808:Arhgap42	UTSW	9	9180050	missense	probably damaging	0.99
R1983:Arhgap42	UTSW	9	9017017	missense	probably damaging	1.00
R2069:Arhgap42	UTSW	9	9035600	missense	probably damaging	1.00
R2276:Arhgap42	UTSW	9	9035511	missense	probably benign
R2279:Arhgap42	UTSW	9	9035511	missense	probably benign
R2295:Arhgap42	UTSW	9	9115744	missense	probably damaging	0.99
R3807:Arhgap42	UTSW	9	9008033	missense	probably damaging	0.98
R4133:Arhgap42	UTSW	9	9011299	intron	probably benign
R4304:Arhgap42	UTSW	9	9006488	missense	probably benign
R4530:Arhgap42	UTSW	9	9011432	missense	probably damaging	1.00
R4532:Arhgap42	UTSW	9	9011432	missense	probably damaging	1.00
R4786:Arhgap42	UTSW	9	9238698	nonsense	probably null
R4807:Arhgap42	UTSW	9	9046628	missense	possibly damaging	0.70
R4809:Arhgap42	UTSW	9	9180117	missense	probably damaging	0.99
R4999:Arhgap42	UTSW	9	9009434	missense	probably damaging	1.00
R5160:Arhgap42	UTSW	9	8997655	missense	probably damaging	0.97
R5737:Arhgap42	UTSW	9	9059068	missense	probably damaging	0.98
R5840:Arhgap42	UTSW	9	9046517	missense	possibly damaging	0.94
R6172:Arhgap42	UTSW	9	9148245	missense	possibly damaging	0.71
R6456:Arhgap42	UTSW	9	9005822	missense	probably benign
R6782:Arhgap42	UTSW	9	9115720	missense	probably damaging	0.99
R6846:Arhgap42	UTSW	9	9006445	missense	probably damaging	1.00
R7489:Arhgap42	UTSW	9	9006358	missense	probably benign
R7560:Arhgap42	UTSW	9	9035531	missense	probably benign	0.00
X0066:Arhgap42	UTSW	9	9115700	missense	probably damaging	1.00
X0066:Arhgap42	UTSW	9	9115704	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAATCTTGGGGACAAGTGGACC -3'
(R):5'- ATGTGTGGACACTCTCCATGTGC -3'

Sequencing Primer
(F):5'- GGTAATCAACCTGTAGTGTAGACCC -3'
(R):5'- CATGTGCCCATGCACAC -3'

Posted On

2014-05-14