Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8994330-9239106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9035538 bp (GRCm39)

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]

AlphaFold

B2RQE8

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: 110,184,714 (GRCm39)	F931I	probably benign	Het
Alox15	T	A	11: 70,240,744 (GRCm39)	H212L	probably benign	Het
Armc9	A	G	1: 86,084,677 (GRCm39)	M1V	probably null	Het
Brca1	C	T	11: 101,380,666 (GRCm39)	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,627,585 (GRCm39)	V138A	probably benign	Het
Camsap1	A	G	2: 25,829,627 (GRCm39)	F699S	probably damaging	Het
Ccm2	A	G	11: 6,535,118 (GRCm39)	R67G	probably damaging	Het
Cdk16	G	A	X: 20,562,898 (GRCm39)		probably null	Het
Cep85	T	C	4: 133,875,324 (GRCm39)	H546R	probably benign	Het
Cfap54	T	C	10: 92,768,502 (GRCm39)	D207G	probably damaging	Het
Cldn9	G	T	17: 23,902,050 (GRCm39)	R192S	probably benign	Het
Crybb3	A	G	5: 113,227,633 (GRCm39)	S63P	probably damaging	Het
Cux1	A	G	5: 136,341,523 (GRCm39)	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407 (GRCm39)	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,645,009 (GRCm39)		probably null	Het
Eif1ad2	A	G	12: 87,786,488 (GRCm39)	D133G	unknown	Het
Eml6	G	A	11: 29,783,187 (GRCm39)	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,594,300 (GRCm39)	V610A	probably benign	Het
Fam234a	T	C	17: 26,434,282 (GRCm39)	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,111,307 (GRCm39)	V154I	probably benign	Het
Frem2	A	T	3: 53,561,373 (GRCm39)	W1045R	probably benign	Het
Fubp1	A	G	3: 151,933,838 (GRCm39)		probably benign	Het
Gja3	T	A	14: 57,274,333 (GRCm39)	N13I	probably damaging	Het
Gpr20	C	A	15: 73,567,751 (GRCm39)	V213L	probably benign	Het
Grk5	T	C	19: 61,065,221 (GRCm39)	I295T	probably damaging	Het
Gucy1b1	A	G	3: 81,945,349 (GRCm39)	F430L	probably damaging	Het
Gzmk	T	A	13: 113,310,462 (GRCm39)	I119L	probably benign	Het
Hadh	T	C	3: 131,038,898 (GRCm39)	I153V	probably benign	Het
Hsfy2	T	C	1: 56,676,012 (GRCm39)	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,665,836 (GRCm39)	I560T	probably benign	Het
Igdcc4	T	C	9: 65,038,945 (GRCm39)	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,508,620 (GRCm39)	D216G	probably benign	Het
Klc2	G	A	19: 5,161,682 (GRCm39)	P303S	probably damaging	Het
Lama5	C	T	2: 179,835,859 (GRCm39)	V1192I	probably benign	Het
Mon2	A	G	10: 122,862,029 (GRCm39)	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,909,935 (GRCm39)	L96Q	probably damaging	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,350,929 (GRCm39)	I726T	probably damaging	Het
Ndnf	A	T	6: 65,680,407 (GRCm39)	T229S	probably benign	Het
Npas3	A	T	12: 54,095,658 (GRCm39)		probably null	Het
Nrap	C	T	19: 56,343,961 (GRCm39)	E729K	probably damaging	Het
Nsun2	T	A	13: 69,775,716 (GRCm39)	F387I	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 163,886,226 (GRCm39)	T452M	probably benign	Het
Pcdh10	T	C	3: 45,334,450 (GRCm39)	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,529,087 (GRCm39)	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,618,629 (GRCm39)		probably benign	Het
Pkp2	T	C	16: 16,086,573 (GRCm39)		probably null	Het
Ppard	A	G	17: 28,516,154 (GRCm39)	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,295,344 (GRCm39)	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,106,109 (GRCm39)	T287A	probably damaging	Het
Sema4b	T	C	7: 79,869,010 (GRCm39)	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,872,983 (GRCm39)	I640N	probably damaging	Het
Smurf2	C	A	11: 106,726,896 (GRCm39)		probably null	Het
Spag5	T	C	11: 78,195,755 (GRCm39)	V354A	probably benign	Het
Sptb	T	C	12: 76,650,473 (GRCm39)	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,686,887 (GRCm39)	L22F	probably benign	Het
Sugp2	T	C	8: 70,695,284 (GRCm39)	S86P	probably damaging	Het
Tnk1	T	C	11: 69,747,299 (GRCm39)	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,645,263 (GRCm39)	I541F	possibly damaging	Het
Trim36	G	T	18: 46,321,724 (GRCm39)	H108N	possibly damaging	Het
Ttn	T	C	2: 76,701,251 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,935,317 (GRCm39)	S89R	probably benign	Het
Vmn2r121	T	C	X: 123,042,488 (GRCm39)	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,590,026 (GRCm39)	Y630F	probably benign	Het
Washc2	T	A	6: 116,233,673 (GRCm39)	S900T	probably benign	Het
Wdr72	A	G	9: 74,117,481 (GRCm39)	N731S	probably benign	Het
Xrra1	T	A	7: 99,525,451 (GRCm39)	F123L	probably damaging	Het
Zfp648	A	G	1: 154,079,988 (GRCm39)	D49G	probably benign	Het

Other mutations in Arhgap42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Arhgap42	APN	9	9,006,344 (GRCm39)	missense	probably damaging	1.00
IGL00576:Arhgap42	APN	9	8,997,621 (GRCm39)	nonsense	probably null
IGL01693:Arhgap42	APN	9	9,006,507 (GRCm39)	missense	probably damaging	1.00
IGL01724:Arhgap42	APN	9	8,998,254 (GRCm39)	splice site	probably benign
IGL02142:Arhgap42	APN	9	9,155,360 (GRCm39)	missense	probably damaging	1.00
IGL02378:Arhgap42	APN	9	9,035,584 (GRCm39)	missense	possibly damaging	0.94
IGL02932:Arhgap42	APN	9	9,115,709 (GRCm39)	missense	probably damaging	0.98
IGL02992:Arhgap42	APN	9	8,998,249 (GRCm39)	splice site	probably benign
IGL03149:Arhgap42	APN	9	9,008,085 (GRCm39)	missense	possibly damaging	0.71
R0096:Arhgap42	UTSW	9	9,009,314 (GRCm39)	missense	probably damaging	1.00
R0096:Arhgap42	UTSW	9	9,009,314 (GRCm39)	missense	probably damaging	1.00
R0417:Arhgap42	UTSW	9	9,180,034 (GRCm39)	missense	possibly damaging	0.55
R0513:Arhgap42	UTSW	9	9,005,766 (GRCm39)	missense	probably benign	0.07
R1212:Arhgap42	UTSW	9	9,015,313 (GRCm39)	missense	probably damaging	1.00
R1493:Arhgap42	UTSW	9	9,030,798 (GRCm39)	missense	probably benign	0.01
R1499:Arhgap42	UTSW	9	9,033,587 (GRCm39)	splice site	probably benign
R1674:Arhgap42	UTSW	9	9,006,585 (GRCm39)	missense	probably damaging	0.99
R1808:Arhgap42	UTSW	9	9,180,051 (GRCm39)	missense	probably damaging	0.99
R1983:Arhgap42	UTSW	9	9,017,018 (GRCm39)	missense	probably damaging	1.00
R2069:Arhgap42	UTSW	9	9,035,601 (GRCm39)	missense	probably damaging	1.00
R2276:Arhgap42	UTSW	9	9,035,512 (GRCm39)	missense	probably benign
R2279:Arhgap42	UTSW	9	9,035,512 (GRCm39)	missense	probably benign
R2295:Arhgap42	UTSW	9	9,115,745 (GRCm39)	missense	probably damaging	0.99
R3807:Arhgap42	UTSW	9	9,008,034 (GRCm39)	missense	probably damaging	0.98
R4133:Arhgap42	UTSW	9	9,011,300 (GRCm39)	intron	probably benign
R4304:Arhgap42	UTSW	9	9,006,489 (GRCm39)	missense	probably benign
R4530:Arhgap42	UTSW	9	9,011,433 (GRCm39)	missense	probably damaging	1.00
R4532:Arhgap42	UTSW	9	9,011,433 (GRCm39)	missense	probably damaging	1.00
R4786:Arhgap42	UTSW	9	9,238,703 (GRCm39)	nonsense	probably null
R4807:Arhgap42	UTSW	9	9,046,629 (GRCm39)	missense	possibly damaging	0.70
R4809:Arhgap42	UTSW	9	9,180,118 (GRCm39)	missense	probably damaging	0.99
R4999:Arhgap42	UTSW	9	9,009,435 (GRCm39)	missense	probably damaging	1.00
R5160:Arhgap42	UTSW	9	8,997,656 (GRCm39)	missense	probably damaging	0.97
R5737:Arhgap42	UTSW	9	9,059,069 (GRCm39)	missense	probably damaging	0.98
R5840:Arhgap42	UTSW	9	9,046,518 (GRCm39)	missense	possibly damaging	0.94
R6172:Arhgap42	UTSW	9	9,148,246 (GRCm39)	missense	possibly damaging	0.71
R6456:Arhgap42	UTSW	9	9,005,823 (GRCm39)	missense	probably benign
R6782:Arhgap42	UTSW	9	9,115,721 (GRCm39)	missense	probably damaging	0.99
R6846:Arhgap42	UTSW	9	9,006,446 (GRCm39)	missense	probably damaging	1.00
R7489:Arhgap42	UTSW	9	9,006,359 (GRCm39)	missense	probably benign
R7560:Arhgap42	UTSW	9	9,035,532 (GRCm39)	missense	probably benign	0.00
R8025:Arhgap42	UTSW	9	9,005,823 (GRCm39)	missense	probably benign
R8113:Arhgap42	UTSW	9	9,011,434 (GRCm39)	missense	probably damaging	1.00
R8303:Arhgap42	UTSW	9	9,009,327 (GRCm39)	missense	probably damaging	1.00
R8357:Arhgap42	UTSW	9	9,016,221 (GRCm39)	missense	probably benign	0.40
R8457:Arhgap42	UTSW	9	9,016,221 (GRCm39)	missense	probably benign	0.40
R9131:Arhgap42	UTSW	9	9,011,364 (GRCm39)	missense	probably damaging	1.00
R9132:Arhgap42	UTSW	9	9,011,419 (GRCm39)	missense	probably damaging	1.00
R9266:Arhgap42	UTSW	9	9,006,386 (GRCm39)	missense	probably benign	0.03
R9570:Arhgap42	UTSW	9	9,148,209 (GRCm39)	missense
R9780:Arhgap42	UTSW	9	9,059,102 (GRCm39)	missense	probably benign	0.36
X0066:Arhgap42	UTSW	9	9,115,705 (GRCm39)	missense	probably damaging	1.00
X0066:Arhgap42	UTSW	9	9,115,701 (GRCm39)	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