Incidental Mutation 'IGL01693:Arhgap42'
ID 104181
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap42
Ensembl Gene ENSMUSG00000050730
Gene Name Rho GTPase activating protein 42
Synonyms 9030420J04Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.916) question?
Stock # IGL01693
Quality Score
Status
Chromosome 9
Chromosomal Location 8994330-9239106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9006507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 630 (W630R)
Ref Sequence ENSEMBL: ENSMUSP00000091419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093893]
AlphaFold B2RQE8
Predicted Effect probably damaging
Transcript: ENSMUST00000093893
AA Change: W630R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: W630R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182617
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b8 T A 6: 34,340,271 (GRCm39) M145K possibly damaging Het
Arhgap39 T C 15: 76,610,167 (GRCm39) D943G probably null Het
Bbs5 T A 2: 69,493,424 (GRCm39) S225T probably benign Het
Cacna1f A T X: 7,491,606 (GRCm39) N1159Y probably damaging Het
Catsperg1 A G 7: 28,884,523 (GRCm39) probably benign Het
Cemip2 A C 19: 21,779,251 (GRCm39) I354L probably benign Het
Cep15 T C 14: 12,287,380 (GRCm38) L55P probably damaging Het
Cep97 A T 16: 55,750,957 (GRCm39) W20R probably damaging Het
Cmtm8 G A 9: 114,618,773 (GRCm39) T160M probably damaging Het
Csf2ra A G 19: 61,214,434 (GRCm39) S244P possibly damaging Het
Dnah7b C T 1: 46,397,307 (GRCm39) P3913S probably benign Het
Dnai4 T C 4: 102,944,527 (GRCm39) probably null Het
Ezh1 C T 11: 101,106,084 (GRCm39) M100I probably benign Het
Gadl1 C A 9: 115,778,653 (GRCm39) P189Q probably damaging Het
Gcnt2 G A 13: 41,041,549 (GRCm39) S236N probably benign Het
H1f7 A C 15: 98,154,262 (GRCm39) Y296D unknown Het
Hmcn1 T A 1: 150,459,031 (GRCm39) D5191V probably damaging Het
Mycbp2 A T 14: 103,365,415 (GRCm39) D4194E probably damaging Het
Ncf2 C A 1: 152,700,074 (GRCm39) T203K probably benign Het
Or5a1 C A 19: 12,097,921 (GRCm39) V40L probably benign Het
Pate8 G A 9: 36,492,662 (GRCm39) T81I probably benign Het
Phf8 T A X: 150,333,871 (GRCm39) V113E probably damaging Het
Pkm G T 9: 59,577,805 (GRCm39) K207N probably damaging Het
Slco1a6 G T 6: 142,078,935 (GRCm39) S120* probably null Het
Sox10 C T 15: 79,040,473 (GRCm39) V195M possibly damaging Het
Swt1 A G 1: 151,297,855 (GRCm39) I24T probably benign Het
Thada T C 17: 84,754,072 (GRCm39) T300A probably benign Het
Vmn2r17 T C 5: 109,600,384 (GRCm39) Y561H probably damaging Het
Other mutations in Arhgap42
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2014-01-21