Mutagenetix > Incidental Mutation

Incidental Mutation 'R4999:Arhgap42'

478081

Institutional Source

Beutler Lab

Gene Symbol

Arhgap42

Ensembl Gene

ENSMUSG00000050730

Gene Name

Rho GTPase activating protein 42

Synonyms

9030420J04Rik

MMRRC Submission

042593-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R4999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8994330-9239106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9009435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 484 (V484A)

Ref Sequence

ENSEMBL: ENSMUSP00000091419 (fasta)

Gene Model

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

AlphaFold

B2RQE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000093893
AA Change: V484A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: V484A

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: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	G	1: 16,139,022 (GRCm39)		probably null	Het
Abca4	T	A	3: 121,899,019 (GRCm39)	V667D	probably damaging	Het
Aco1	A	G	4: 40,176,507 (GRCm39)	I224V	probably damaging	Het
Arel1	C	T	12: 84,978,541 (GRCm39)	V364M	probably damaging	Het
Asap2	T	C	12: 21,302,766 (GRCm39)	F681L	probably benign	Het
Atrn	C	A	2: 130,817,874 (GRCm39)	D809E	probably damaging	Het
Ccdc70	G	A	8: 22,463,266 (GRCm39)	V19M	possibly damaging	Het
Ccp110	G	T	7: 118,329,235 (GRCm39)	E73*	probably null	Het
Cfap57	A	C	4: 118,453,045 (GRCm39)	S553A	probably benign	Het
Cftr	A	G	6: 18,221,613 (GRCm39)	K212E	probably benign	Het
Chkb	A	T	15: 89,312,368 (GRCm39)	Y216N	probably damaging	Het
Cntnap2	G	T	6: 45,897,768 (GRCm39)	D149Y	probably damaging	Het
Cpd	A	G	11: 76,737,048 (GRCm39)		probably null	Het
Creb3l1	C	T	2: 91,813,571 (GRCm39)	D489N	probably benign	Het
Crhbp	A	G	13: 95,578,753 (GRCm39)	F123L	probably damaging	Het
Cryab	T	C	9: 50,665,909 (GRCm39)	V100A	possibly damaging	Het
Csmd2	T	C	4: 128,415,723 (GRCm39)	I2684T	probably benign	Het
Ctbp2	G	T	7: 132,616,378 (GRCm39)	P186T	possibly damaging	Het
Ctnna2	T	C	6: 76,892,745 (GRCm39)	N814S	possibly damaging	Het
Dntt	T	C	19: 41,028,295 (GRCm39)	V197A	probably damaging	Het
Fam135a	G	A	1: 24,059,758 (GRCm39)	A1187V	possibly damaging	Het
Filip1l	A	T	16: 57,390,778 (GRCm39)	Q455H	probably benign	Het
Grm2	T	C	9: 106,531,189 (GRCm39)	E100G	probably damaging	Het
Gtf2ird2	G	A	5: 134,246,306 (GRCm39)	V855M	probably damaging	Het
Heatr9	A	T	11: 83,409,618 (GRCm39)	I118N	possibly damaging	Het
Htra3	T	C	5: 35,828,469 (GRCm39)	H137R	probably benign	Het
Iars1	A	G	13: 49,863,137 (GRCm39)	S530G	probably damaging	Het
Klhdc4	T	A	8: 122,523,342 (GRCm39)	M510L	probably benign	Het
Lipc	T	C	9: 70,724,013 (GRCm39)	T204A	probably benign	Het
Lrp1	A	G	10: 127,389,648 (GRCm39)	V3129A	probably damaging	Het
Macf1	G	A	4: 123,388,702 (GRCm39)	T1120I	probably benign	Het
Maco1	A	G	4: 134,555,444 (GRCm39)	I343T	probably benign	Het
Map4	T	C	9: 109,867,445 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,260,087 (GRCm39)	V420D	probably damaging	Het
Mta2	G	T	19: 8,927,747 (GRCm39)	D523Y	probably benign	Het
Mtcl2	C	T	2: 156,864,776 (GRCm39)	G1144D	probably benign	Het
Muc4	A	G	16: 32,576,670 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,855,902 (GRCm39)	Q965*	probably null	Het
Myo1e	T	A	9: 70,260,594 (GRCm39)	I584N	probably damaging	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Nop56	G	T	2: 130,117,645 (GRCm39)	V91L	probably benign	Het
Or5b99	A	T	19: 12,976,583 (GRCm39)	M78L	probably benign	Het
Or5h23	A	T	16: 58,906,765 (GRCm39)	L27Q	probably damaging	Het
Or6f2	T	C	7: 139,756,933 (GRCm39)	V300A	probably damaging	Het
Osbpl3	T	C	6: 50,313,277 (GRCm39)	E107G	probably damaging	Het
Pde3a	T	A	6: 141,195,751 (GRCm39)	C146S	probably benign	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Pkd1l2	C	T	8: 117,774,113 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,612,021 (GRCm39)	I374T	possibly damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Prom1	T	G	5: 44,194,876 (GRCm39)	I290L	probably benign	Het
Rufy3	T	A	5: 88,785,085 (GRCm39)	M387K	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	T	A	5: 12,558,054 (GRCm39)		probably null	Het
Sema6c	C	T	3: 95,075,674 (GRCm39)	T175I	probably damaging	Het
Serpina3k	T	C	12: 104,307,305 (GRCm39)	I179T	probably damaging	Het
Sf3b3	T	C	8: 111,567,835 (GRCm39)	T207A	probably benign	Het
Slc22a26	C	A	19: 7,779,546 (GRCm39)	R90L	probably damaging	Het
Slitrk5	T	C	14: 111,917,648 (GRCm39)	V424A	probably damaging	Het
Smarca2	G	T	19: 26,698,255 (GRCm39)	E89*	probably null	Het
Stab2	T	A	10: 86,773,773 (GRCm39)	S853C	probably damaging	Het
Stk17b	A	T	1: 53,800,306 (GRCm39)		probably null	Het
Taar5	T	A	10: 23,847,445 (GRCm39)	I281N	possibly damaging	Het
Tars3	A	T	7: 65,308,683 (GRCm39)	E284D	probably damaging	Het
Tbx15	C	A	3: 99,223,649 (GRCm39)	T279K	probably damaging	Het
Tfr2	G	A	5: 137,585,187 (GRCm39)	V740I	probably benign	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tmem145	A	G	7: 25,008,459 (GRCm39)	T302A	probably benign	Het
Trappc14	T	A	5: 138,259,884 (GRCm39)	T391S	probably damaging	Het
Trpa1	G	T	1: 14,946,085 (GRCm39)	H1015Q	probably benign	Het
Tspan8	A	G	10: 115,653,534 (GRCm39)	Y10C	possibly damaging	Het
Ttll7	A	G	3: 146,600,224 (GRCm39)	N44S	probably damaging	Het
Uba7	T	C	9: 107,857,038 (GRCm39)		probably null	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr5	C	A	15: 38,009,912 (GRCm39)	A1022S	probably benign	Het
Usf1	T	G	1: 171,243,331 (GRCm39)	I36S	probably damaging	Het
Vmn1r181	A	T	7: 23,683,790 (GRCm39)	D85V	probably damaging	Het
Vmn1r3	A	T	4: 3,185,009 (GRCm39)	Y99*	probably null	Het
Vmn1r72	T	C	7: 11,404,300 (GRCm39)	I49M	possibly damaging	Het
Vmn2r99	A	G	17: 19,582,397 (GRCm39)	M1V	probably null	Het
Vsig10	T	A	5: 117,482,040 (GRCm39)	V410E	probably damaging	Het
Zc3h7b	A	G	15: 81,663,334 (GRCm39)	Y442C	probably damaging	Het
Zfyve26	G	T	12: 79,327,159 (GRCm39)	Y730*	probably null	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
R1687:Arhgap42	UTSW	9	9,035,538 (GRCm39)	missense	probably benign	0.33
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
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'- CCTTAAGACAGAGTTGGCAGTG -3'
(R):5'- GTGACCTCTGTTGCAAAGC -3'

Sequencing Primer
(F):5'- AGTGTGAGGAGGCTCCCAG -3'
(R):5'- AAATACCTTTCTCCCCTGATGATC -3'

Posted On

2017-05-23