Incidental Mutation 'R0096:Arhgap42'
ID 17950
Institutional Source Beutler Lab
Gene Symbol Arhgap42
Ensembl Gene ENSMUSG00000050730
Gene Name Rho GTPase activating protein 42
Synonyms 9030420J04Rik
MMRRC Submission 038382-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.916) question?
Stock # R0096 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 8994330-9239106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 9009314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 524 (N524K)
Ref Sequence ENSEMBL: ENSMUSP00000091419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093893]
AlphaFold B2RQE8
Predicted Effect probably damaging
Transcript: ENSMUST00000093893
AA Change: N524K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: N524K

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 90.0%
  • 3x: 87.5%
  • 10x: 81.4%
  • 20x: 72.0%
Validation Efficiency 89% (76/85)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamts3 G A 5: 89,849,576 (GRCm39) Q615* probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Anks1b T C 10: 89,909,924 (GRCm39) S48P possibly damaging Het
Aoc1l2 A C 6: 48,908,122 (GRCm39) Q374P probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Arid4b T C 13: 14,303,779 (GRCm39) V68A probably benign Het
Bard1 A T 1: 71,092,889 (GRCm39) probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Capn3 A T 2: 120,333,010 (GRCm39) H592L possibly damaging Het
Cilp A G 9: 65,180,952 (GRCm39) T256A possibly damaging Het
Cpne8 T A 15: 90,384,118 (GRCm39) I481L probably benign Het
Dglucy A T 12: 100,804,910 (GRCm39) I134F possibly damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dthd1 A T 5: 63,000,383 (GRCm39) R568S possibly damaging Het
Efr3a A G 15: 65,727,290 (GRCm39) N613S probably damaging Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Fbrs C T 7: 127,088,659 (GRCm39) A145V probably damaging Het
Gm9873 A T 2: 168,863,029 (GRCm39) noncoding transcript Het
Grik1 T C 16: 87,831,114 (GRCm39) M219V possibly damaging Het
Gucy1a2 A T 9: 3,758,928 (GRCm39) probably benign Het
Itih5 G A 2: 10,256,189 (GRCm39) R885Q probably benign Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Kdm4c A G 4: 74,275,580 (GRCm39) E752G probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lama1 T A 17: 68,112,408 (GRCm39) F2283I probably benign Het
Luc7l3 A G 11: 94,192,320 (GRCm39) probably benign Het
Map1a A G 2: 121,131,986 (GRCm39) E696G probably damaging Het
Mrps34 A G 17: 25,114,643 (GRCm39) D110G probably damaging Het
Myh11 T A 16: 14,022,231 (GRCm39) K1710M possibly damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Nol4 T G 18: 23,054,915 (GRCm39) T58P possibly damaging Het
Nos1ap T C 1: 170,156,816 (GRCm39) D214G probably damaging Het
Or4c119 A T 2: 88,986,640 (GRCm39) M293K probably benign Het
Pde4dip A C 3: 97,674,783 (GRCm39) D44E probably damaging Het
Pip4k2a G A 2: 18,893,850 (GRCm39) probably benign Het
Prmt8 T A 6: 127,709,590 (GRCm39) probably benign Het
Pygl A T 12: 70,237,940 (GRCm39) probably benign Het
Ralgapa1 T C 12: 55,786,290 (GRCm39) D643G probably damaging Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Skint5 A T 4: 113,454,965 (GRCm39) probably benign Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Sycp2 G T 2: 178,045,528 (GRCm39) Q31K probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tektl1 T A 10: 78,584,539 (GRCm39) I328L probably benign Het
Trf A G 9: 103,099,358 (GRCm39) F300L probably damaging Het
Vmn2r105 A G 17: 20,447,741 (GRCm39) F361S possibly damaging Het
Vmn2r79 A G 7: 86,686,527 (GRCm39) Y636C probably damaging Het
Wdr59 T C 8: 112,231,005 (GRCm39) N68D 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
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
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 2013-03-25