Incidental Mutation 'IGL02142:Arhgap42'
ID 281615
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 # IGL02142
Quality Score
Status
Chromosome 9
Chromosomal Location 8994330-9239106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9155360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 86 (S86P)
Ref Sequence ENSEMBL: ENSMUSP00000149949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093893] [ENSMUST00000183182] [ENSMUST00000215397]
AlphaFold B2RQE8
Predicted Effect probably damaging
Transcript: ENSMUST00000093893
AA Change: S86P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091419
Gene: ENSMUSG00000050730
AA Change: S86P

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
Predicted Effect probably damaging
Transcript: ENSMUST00000183182
AA Change: S86P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138500
Gene: ENSMUSG00000050730
AA Change: S86P

DomainStartEndE-ValueType
low complexity region 98 113 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000215397
AA Change: S86P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,963,575 (GRCm39) S2060P probably benign Het
Abcg4 A G 9: 44,189,014 (GRCm39) F426S probably benign Het
Actn1 C T 12: 80,222,929 (GRCm39) probably null Het
Adgrd1 T A 5: 129,208,648 (GRCm39) H251Q probably benign Het
Adgrg3 C T 8: 95,766,483 (GRCm39) P385S probably damaging Het
Ampd2 G T 3: 107,987,660 (GRCm39) probably benign Het
Art5 C T 7: 101,747,123 (GRCm39) E121K probably null Het
Atad5 G A 11: 79,985,023 (GRCm39) E37K probably benign Het
Atp13a5 A G 16: 29,053,315 (GRCm39) V1084A probably benign Het
Cfap44 T C 16: 44,241,507 (GRCm39) I626T probably benign Het
Col16a1 T A 4: 129,945,440 (GRCm39) probably null Het
Defa22 T G 8: 21,653,130 (GRCm39) C81G possibly damaging Het
Dnm2 A G 9: 21,411,649 (GRCm39) Y622C probably damaging Het
Efna5 T A 17: 62,914,340 (GRCm39) L201F unknown Het
Elac1 T C 18: 73,871,991 (GRCm39) R335G probably benign Het
Enpp5 T C 17: 44,396,468 (GRCm39) V460A probably benign Het
Esr2 A G 12: 76,169,969 (GRCm39) V453A probably benign Het
Fam210b T A 2: 172,194,497 (GRCm39) probably benign Het
Fcgr1 T C 3: 96,191,893 (GRCm39) Y305C probably benign Het
Fcrlb A G 1: 170,736,248 (GRCm39) V176A probably damaging Het
Gabrq T A X: 71,879,783 (GRCm39) V256E possibly damaging Het
Gba1 T C 3: 89,113,148 (GRCm39) L193P probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Helq A G 5: 100,930,960 (GRCm39) F597L probably benign Het
Hrh1 A T 6: 114,457,204 (GRCm39) I162L probably damaging Het
Jph1 A T 1: 17,161,884 (GRCm39) F259L probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Kdm4c T A 4: 74,225,253 (GRCm39) probably null Het
Kif13a T C 13: 46,925,011 (GRCm39) T308A probably benign Het
Lars1 C T 18: 42,360,345 (GRCm39) V704M probably benign Het
Lcmt2 A G 2: 120,969,394 (GRCm39) L343P possibly damaging Het
Lhfpl1 A G X: 144,123,733 (GRCm39) F125L probably benign Het
Lmbrd2 C A 15: 9,186,772 (GRCm39) D582E probably damaging Het
Lrrn2 T A 1: 132,866,983 (GRCm39) S683T possibly damaging Het
Macf1 T C 4: 123,365,842 (GRCm39) D1408G probably benign Het
Magi3 T C 3: 103,923,219 (GRCm39) K1166R probably benign Het
Marchf5 T C 19: 37,197,892 (GRCm39) probably benign Het
Ms4a20 G A 19: 11,087,695 (GRCm39) Q79* probably null Het
Naa25 A G 5: 121,564,825 (GRCm39) Q555R possibly damaging Het
Npat A G 9: 53,481,207 (GRCm39) T1005A probably benign Het
Nt5c3 G A 6: 56,863,670 (GRCm39) A108V probably damaging Het
Ocrl T A X: 47,024,995 (GRCm39) M322K probably damaging Het
Odad2 C A 18: 7,214,601 (GRCm39) W733C probably damaging Het
Or8g2 A G 9: 39,821,935 (GRCm39) T279A possibly damaging Het
Psg23 A T 7: 18,344,345 (GRCm39) V370E probably benign Het
Rassf2 A T 2: 131,838,353 (GRCm39) M311K possibly damaging Het
Rhobtb3 A G 13: 76,025,614 (GRCm39) Y501H probably damaging Het
Rpl4 A G 9: 64,083,488 (GRCm39) D179G possibly damaging Het
Scn2a T A 2: 65,546,182 (GRCm39) I915N probably damaging Het
Scn3a T A 2: 65,356,965 (GRCm39) T160S possibly damaging Het
Slx4ip T G 2: 136,909,942 (GRCm39) N242K possibly damaging Het
Spidr T A 16: 15,865,945 (GRCm39) Q288L probably benign Het
Sun1 A T 5: 139,216,918 (GRCm39) H255L possibly damaging Het
Tacc1 C T 8: 25,665,233 (GRCm39) G51S probably damaging Het
Tet2 T A 3: 133,185,900 (GRCm39) N1179I possibly damaging Het
Tgfbrap1 T C 1: 43,101,752 (GRCm39) Y349C probably damaging Het
Tnrc6a T C 7: 122,751,414 (GRCm39) probably benign Het
Trim32 T C 4: 65,532,736 (GRCm39) L431P probably damaging Het
Vmn1r35 A G 6: 66,656,334 (GRCm39) L112S probably damaging Het
Vmn2r100 A C 17: 19,742,583 (GRCm39) H319P probably damaging Het
Wdr20rt A G 12: 65,274,039 (GRCm39) T328A probably benign Het
Zbtb17 T C 4: 141,192,293 (GRCm39) Y413H probably benign 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
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 2015-04-16