Incidental Mutation 'IGL02992:Arhgap42'
ID407011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap42
Ensembl Gene ENSMUSG00000050730
Gene NameRho GTPase activating protein 42
Synonyms9030420J04Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.875) question?
Stock #IGL02992
Quality Score
Status
Chromosome9
Chromosomal Location8994329-9239101 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 8998248 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000091419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093893]
Predicted Effect probably benign
Transcript: ENSMUST00000093893
SMART Domains Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik T A 1: 105,719,464 L684M possibly damaging Het
Abca4 A G 3: 122,128,286 K1164E probably damaging Het
Arhgef12 T C 9: 42,999,077 D612G probably damaging Het
Cpne3 T C 4: 19,532,486 D309G probably benign Het
Daw1 T C 1: 83,197,213 probably benign Het
Daxx T A 17: 33,911,748 C246S probably damaging Het
Dpp7 T C 2: 25,354,577 D264G possibly damaging Het
Dync2h1 T A 9: 7,137,074 H1472L probably benign Het
Fastkd2 T C 1: 63,737,924 probably benign Het
Fcrls T G 3: 87,259,466 R73S probably damaging Het
Gatb A G 3: 85,618,916 D367G probably damaging Het
Gm20547 T A 17: 34,857,119 E654V probably damaging Het
Gm839 T A 6: 89,212,527 noncoding transcript Het
Gtf2ird2 A T 5: 134,217,614 M905L possibly damaging Het
Hoxb2 A T 11: 96,353,084 I174F probably damaging Het
Hrh3 A G 2: 180,100,815 V308A probably benign Het
Ints9 A G 14: 64,980,164 K47E probably benign Het
Irak3 A T 10: 120,182,661 Y61N probably damaging Het
Itpr1 A G 6: 108,381,315 E614G probably damaging Het
Lgals3 A T 14: 47,385,525 I214L probably benign Het
Msh4 G T 3: 153,872,325 T444K possibly damaging Het
Myh7b C A 2: 155,621,410 Q521K probably damaging Het
Naip5 T A 13: 100,223,028 I567F probably damaging Het
Nf1 A G 11: 79,434,933 probably benign Het
Nlrc3 C T 16: 3,954,023 probably benign Het
Nlrc5 A C 8: 94,506,573 E1353A possibly damaging Het
Nr1h3 T A 2: 91,190,566 I260F probably damaging Het
Pcnx G A 12: 81,964,120 R1211Q probably damaging Het
Pde10a A G 17: 8,949,461 K605E probably damaging Het
Pdzd2 T C 15: 12,382,622 E1215G possibly damaging Het
Pex12 A G 11: 83,297,927 S81P probably damaging Het
Pik3c2b C A 1: 133,066,980 Y227* probably null Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Prkg2 T G 5: 99,024,506 S117R probably benign Het
Prl3d2 A T 13: 27,127,283 E179D probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Scn10a T C 9: 119,609,560 T1748A possibly damaging Het
Sept10 T C 10: 59,192,178 N107S possibly damaging Het
Smu1 T A 4: 40,739,550 N420I probably damaging Het
Sos1 A G 17: 80,419,016 F835L probably benign Het
Spg11 T C 2: 122,058,398 D2164G probably damaging Het
Svbp A G 4: 119,195,930 E8G probably damaging Het
Tgm3 T A 2: 130,041,979 M519K probably damaging Het
Tspan12 A G 6: 21,799,877 probably null Het
Vps52 T C 17: 33,958,350 V122A probably damaging Het
Wipf1 T C 2: 73,434,083 Y458C probably damaging Het
Zfp369 T A 13: 65,294,451 D286E possibly damaging Het
Other mutations in Arhgap42
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R1687:Arhgap42 UTSW 9 9035537 missense probably benign 0.33
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
X0066:Arhgap42 UTSW 9 9115700 missense probably damaging 1.00
X0066:Arhgap42 UTSW 9 9115704 missense probably damaging 1.00
Posted On2016-08-02