Incidental Mutation 'IGL00476:Arhgap42'
ID6192
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: 0.884) question?
Stock #IGL00476
Quality Score
Status
Chromosome9
Chromosomal Location8994329-9239101 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9006343 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 684 (D684G)
Ref Sequence ENSEMBL: ENSMUSP00000091419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093893]
Predicted Effect probably damaging
Transcript: ENSMUST00000093893
AA Change: D684G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: D684G

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
2610002M06Rik A C X: 107,816,160 probably benign Het
4931414P19Rik T C 14: 54,595,578 T47A possibly damaging Het
Adgrv1 A G 13: 81,489,074 F3416S probably damaging Het
Atp13a1 T C 8: 69,796,897 L270P probably damaging Het
Baz2b T C 2: 59,913,739 N1474S probably benign Het
Chrna6 A G 8: 27,406,532 I439T probably damaging Het
Cylc2 T C 4: 51,228,157 M76T probably damaging Het
Ddx19a T C 8: 110,976,470 K445R probably benign Het
Dennd4a A T 9: 64,911,762 Y1733F probably damaging Het
Dopey2 G A 16: 93,800,026 probably benign Het
Dpcr1 G T 17: 35,638,102 H202N possibly damaging Het
Ephb3 T A 16: 21,220,415 probably null Het
Gpc2 G A 5: 138,274,309 probably benign Het
Ift172 A G 5: 31,275,896 Y550H probably damaging Het
Kat2a G A 11: 100,705,384 R782W probably damaging Het
Ldhd G T 8: 111,628,638 R238S possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep T G 14: 60,827,361 L388R probably damaging Het
Naa35 A G 13: 59,630,055 D610G probably damaging Het
Nae1 A T 8: 104,526,381 L137Q possibly damaging Het
Nt5dc3 T C 10: 86,833,974 probably null Het
Nyx T C X: 13,487,025 F373L possibly damaging Het
Scaf11 A T 15: 96,418,580 D1034E possibly damaging Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Taar7a A T 10: 23,992,396 probably benign Het
Tcf23 G T 5: 30,973,525 C169F probably benign Het
Trim7 A T 11: 48,848,078 N308I probably benign Het
Ubxn8 T C 8: 33,635,305 E89G probably benign Het
Other mutations in Arhgap42
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R7489:Arhgap42 UTSW 9 9006358 missense probably benign
R7560:Arhgap42 UTSW 9 9035531 missense probably benign 0.00
R8025:Arhgap42 UTSW 9 9005822 missense probably benign
X0066:Arhgap42 UTSW 9 9115700 missense probably damaging 1.00
X0066:Arhgap42 UTSW 9 9115704 missense probably damaging 1.00
Posted On2012-04-20