Incidental Mutation 'IGL03286:Arhgap32'
ID 415712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap32
Ensembl Gene ENSMUSG00000041444
Gene Name Rho GTPase activating protein 32
Synonyms p200RhoGAP, Grit, PX-RICS, GC-GAP, 3426406O18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03286
Quality Score
Status
Chromosome 9
Chromosomal Location 32027432-32179742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32170816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1548 (S1548P)
Ref Sequence ENSEMBL: ENSMUSP00000133898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168954] [ENSMUST00000174641] [ENSMUST00000182802]
AlphaFold Q811P8
Predicted Effect probably benign
Transcript: ENSMUST00000168954
AA Change: S1199P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000128448
Gene: ENSMUSG00000041444
AA Change: S1199P

DomainStartEndE-ValueType
RhoGAP 34 215 9.6e-60 SMART
Blast:RhoGAP 232 298 7e-31 BLAST
low complexity region 518 533 N/A INTRINSIC
low complexity region 669 689 N/A INTRINSIC
low complexity region 696 710 N/A INTRINSIC
low complexity region 913 926 N/A INTRINSIC
low complexity region 960 974 N/A INTRINSIC
low complexity region 997 1008 N/A INTRINSIC
low complexity region 1076 1093 N/A INTRINSIC
low complexity region 1304 1317 N/A INTRINSIC
low complexity region 1691 1700 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174641
AA Change: S1548P

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133898
Gene: ENSMUSG00000041444
AA Change: S1548P

DomainStartEndE-ValueType
Pfam:PX 132 226 5.6e-7 PFAM
SH3 262 320 7.4e-11 SMART
RhoGAP 383 564 9.6e-60 SMART
Blast:RhoGAP 581 647 9e-31 BLAST
low complexity region 867 882 N/A INTRINSIC
low complexity region 1018 1038 N/A INTRINSIC
low complexity region 1045 1059 N/A INTRINSIC
low complexity region 1262 1275 N/A INTRINSIC
low complexity region 1309 1323 N/A INTRINSIC
low complexity region 1346 1357 N/A INTRINSIC
low complexity region 1425 1442 N/A INTRINSIC
low complexity region 1653 1666 N/A INTRINSIC
low complexity region 2040 2049 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182802
AA Change: S1199P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000138145
Gene: ENSMUSG00000041444
AA Change: S1199P

DomainStartEndE-ValueType
RhoGAP 34 215 9.6e-60 SMART
Blast:RhoGAP 232 298 7e-31 BLAST
low complexity region 518 533 N/A INTRINSIC
low complexity region 669 689 N/A INTRINSIC
low complexity region 696 710 N/A INTRINSIC
low complexity region 913 926 N/A INTRINSIC
low complexity region 960 974 N/A INTRINSIC
low complexity region 997 1008 N/A INTRINSIC
low complexity region 1076 1093 N/A INTRINSIC
low complexity region 1304 1317 N/A INTRINSIC
low complexity region 1691 1700 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null mutation are fertile but display abnormal neurite growth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 G A 1: 58,088,543 (GRCm39) G110S probably benign Het
Cacna1s A G 1: 136,005,397 (GRCm39) D147G probably benign Het
Calcoco2 A G 11: 95,994,098 (GRCm39) V116A possibly damaging Het
Chd5 A T 4: 152,469,952 (GRCm39) M1842L probably benign Het
Comt T C 16: 18,230,490 (GRCm39) D73G probably damaging Het
Ctnna1 A G 18: 35,308,206 (GRCm39) I175M probably benign Het
Dnah6 A T 6: 73,060,068 (GRCm39) Y2839N probably damaging Het
Dph7 T A 2: 24,856,628 (GRCm39) H193Q probably damaging Het
Eif2b5 A G 16: 20,321,012 (GRCm39) D258G probably damaging Het
Eml5 T C 12: 98,826,762 (GRCm39) D630G probably damaging Het
Ext2 C T 2: 93,537,617 (GRCm39) V590M probably damaging Het
Fchsd2 T C 7: 100,908,982 (GRCm39) probably null Het
Gm13272 A G 4: 88,698,586 (GRCm39) Q167R probably benign Het
Gm21834 A G 17: 58,048,922 (GRCm39) V98A possibly damaging Het
Grid1 T A 14: 35,242,642 (GRCm39) probably benign Het
H2-DMa T A 17: 34,356,083 (GRCm39) probably null Het
Ighv5-17 T G 12: 113,822,797 (GRCm39) E108A possibly damaging Het
Invs A G 4: 48,382,261 (GRCm39) T144A probably benign Het
Ipo9 A G 1: 135,334,816 (GRCm39) probably benign Het
Itga4 A T 2: 79,119,706 (GRCm39) Y504F probably damaging Het
Krt5 A G 15: 101,615,983 (GRCm39) F544S unknown Het
Larp4 A G 15: 99,883,967 (GRCm39) Y67C probably damaging Het
Msh2 T C 17: 87,990,095 (GRCm39) M261T possibly damaging Het
Nav1 A T 1: 135,382,274 (GRCm39) C1367S probably benign Het
Nox4 T A 7: 87,019,349 (GRCm39) probably benign Het
Noxa1 A G 2: 24,975,732 (GRCm39) probably null Het
Or5b98 A C 19: 12,931,532 (GRCm39) Y193S probably benign Het
Or6p1 A C 1: 174,258,743 (GRCm39) I250L probably benign Het
Pde4d T A 13: 110,091,040 (GRCm39) probably benign Het
Pdlim2 C T 14: 70,411,925 (GRCm39) G36S possibly damaging Het
Plekhm2 A G 4: 141,361,658 (GRCm39) S262P possibly damaging Het
Pnpla6 C A 8: 3,581,473 (GRCm39) T582K probably damaging Het
Rap1b A T 10: 117,654,480 (GRCm39) L120* probably null Het
Rft1 C T 14: 30,383,323 (GRCm39) T121I probably benign Het
Scn1a A G 2: 66,107,920 (GRCm39) I1613T probably damaging Het
Slc47a2 T G 11: 61,233,293 (GRCm39) E79A possibly damaging Het
Slc9a4 A G 1: 40,619,928 (GRCm39) I85V probably null Het
Slfn8 A T 11: 82,904,294 (GRCm39) F365L probably damaging Het
Smcr8 T A 11: 60,668,853 (GRCm39) probably benign Het
Sntb1 T C 15: 55,655,442 (GRCm39) D258G possibly damaging Het
Sorbs1 A G 19: 40,332,858 (GRCm39) I520T probably damaging Het
Sptbn2 T C 19: 4,797,860 (GRCm39) S1896P probably damaging Het
Sptlc3 G A 2: 139,431,579 (GRCm39) G367D probably damaging Het
Stab1 C T 14: 30,881,283 (GRCm39) probably benign Het
Tars2 T C 3: 95,662,067 (GRCm39) probably benign Het
Tchhl1 C T 3: 93,378,430 (GRCm39) A378V probably benign Het
Tet3 A T 6: 83,352,760 (GRCm39) F1012Y probably damaging Het
Tuba8 A G 6: 121,199,913 (GRCm39) D199G possibly damaging Het
Vmn2r110 T A 17: 20,804,468 (GRCm39) T151S possibly damaging Het
Xirp2 T C 2: 67,346,654 (GRCm39) I2965T probably damaging Het
Zfp688 T A 7: 127,018,703 (GRCm39) M141L probably benign Het
Other mutations in Arhgap32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Arhgap32 APN 9 32,168,657 (GRCm39) missense probably benign 0.00
IGL01317:Arhgap32 APN 9 32,168,260 (GRCm39) missense probably benign 0.30
IGL01614:Arhgap32 APN 9 32,171,801 (GRCm39) missense probably damaging 1.00
IGL01791:Arhgap32 APN 9 32,158,486 (GRCm39) missense probably damaging 0.96
IGL02318:Arhgap32 APN 9 32,170,627 (GRCm39) missense probably benign 0.00
IGL02542:Arhgap32 APN 9 32,166,944 (GRCm39) missense probably damaging 1.00
IGL02568:Arhgap32 APN 9 32,158,490 (GRCm39) missense probably damaging 1.00
IGL02627:Arhgap32 APN 9 32,157,302 (GRCm39) missense probably damaging 1.00
IGL02927:Arhgap32 APN 9 32,172,431 (GRCm39) missense possibly damaging 0.95
IGL03157:Arhgap32 APN 9 32,170,430 (GRCm39) missense probably damaging 1.00
PIT4445001:Arhgap32 UTSW 9 32,172,152 (GRCm39) missense probably damaging 1.00
R0004:Arhgap32 UTSW 9 32,063,294 (GRCm39) missense probably damaging 0.98
R0335:Arhgap32 UTSW 9 32,171,056 (GRCm39) missense probably benign 0.00
R0380:Arhgap32 UTSW 9 32,157,773 (GRCm39) missense probably damaging 1.00
R0396:Arhgap32 UTSW 9 32,156,551 (GRCm39) critical splice donor site probably null
R0494:Arhgap32 UTSW 9 32,170,199 (GRCm39) missense probably damaging 0.98
R0508:Arhgap32 UTSW 9 32,101,364 (GRCm39) splice site probably benign
R0856:Arhgap32 UTSW 9 32,171,516 (GRCm39) missense probably damaging 1.00
R0990:Arhgap32 UTSW 9 32,166,677 (GRCm39) missense probably damaging 1.00
R1312:Arhgap32 UTSW 9 32,166,608 (GRCm39) missense probably benign
R1455:Arhgap32 UTSW 9 32,171,381 (GRCm39) missense probably benign 0.08
R1515:Arhgap32 UTSW 9 32,027,498 (GRCm39) missense probably benign
R1523:Arhgap32 UTSW 9 32,168,048 (GRCm39) missense probably damaging 1.00
R1651:Arhgap32 UTSW 9 32,171,096 (GRCm39) missense probably damaging 1.00
R1743:Arhgap32 UTSW 9 32,170,727 (GRCm39) missense probably benign 0.00
R1999:Arhgap32 UTSW 9 32,027,436 (GRCm39) missense possibly damaging 0.52
R2098:Arhgap32 UTSW 9 32,171,207 (GRCm39) missense probably damaging 1.00
R2150:Arhgap32 UTSW 9 32,027,436 (GRCm39) missense possibly damaging 0.52
R2256:Arhgap32 UTSW 9 32,158,793 (GRCm39) missense probably damaging 0.99
R2257:Arhgap32 UTSW 9 32,158,793 (GRCm39) missense probably damaging 0.99
R2989:Arhgap32 UTSW 9 32,150,694 (GRCm39) missense possibly damaging 0.54
R3780:Arhgap32 UTSW 9 32,063,315 (GRCm39) splice site probably null
R3793:Arhgap32 UTSW 9 32,166,669 (GRCm39) missense probably damaging 1.00
R3846:Arhgap32 UTSW 9 32,101,320 (GRCm39) missense probably benign 0.03
R4086:Arhgap32 UTSW 9 32,158,362 (GRCm39) unclassified probably benign
R4177:Arhgap32 UTSW 9 32,158,510 (GRCm39) missense probably null 1.00
R4230:Arhgap32 UTSW 9 32,168,770 (GRCm39) missense probably benign 0.10
R4280:Arhgap32 UTSW 9 32,171,185 (GRCm39) missense probably damaging 0.98
R4504:Arhgap32 UTSW 9 32,093,135 (GRCm39) splice site probably null
R4587:Arhgap32 UTSW 9 32,172,241 (GRCm39) missense probably benign 0.02
R4612:Arhgap32 UTSW 9 32,170,775 (GRCm39) missense probably damaging 0.99
R4622:Arhgap32 UTSW 9 32,150,644 (GRCm39) missense possibly damaging 0.75
R4670:Arhgap32 UTSW 9 32,081,441 (GRCm39) missense probably benign 0.03
R4784:Arhgap32 UTSW 9 32,172,076 (GRCm39) missense probably damaging 1.00
R4784:Arhgap32 UTSW 9 32,040,949 (GRCm39) missense probably damaging 0.99
R4785:Arhgap32 UTSW 9 32,172,076 (GRCm39) missense probably damaging 1.00
R4785:Arhgap32 UTSW 9 32,040,949 (GRCm39) missense probably damaging 0.99
R4906:Arhgap32 UTSW 9 32,156,552 (GRCm39) critical splice donor site probably null
R5046:Arhgap32 UTSW 9 32,168,095 (GRCm39) missense probably damaging 1.00
R5360:Arhgap32 UTSW 9 32,170,967 (GRCm39) missense probably damaging 1.00
R5382:Arhgap32 UTSW 9 32,063,306 (GRCm39) missense probably damaging 1.00
R5445:Arhgap32 UTSW 9 32,159,678 (GRCm39) missense probably benign 0.19
R5637:Arhgap32 UTSW 9 32,158,502 (GRCm39) missense probably damaging 1.00
R5659:Arhgap32 UTSW 9 32,093,256 (GRCm39) missense probably damaging 1.00
R5801:Arhgap32 UTSW 9 32,167,084 (GRCm39) missense probably benign 0.01
R6002:Arhgap32 UTSW 9 32,168,275 (GRCm39) missense probably benign 0.00
R6109:Arhgap32 UTSW 9 32,171,407 (GRCm39) missense probably damaging 1.00
R6405:Arhgap32 UTSW 9 32,159,784 (GRCm39) missense probably benign 0.31
R6922:Arhgap32 UTSW 9 32,063,983 (GRCm39) missense possibly damaging 0.86
R7009:Arhgap32 UTSW 9 32,157,272 (GRCm39) missense probably damaging 1.00
R7137:Arhgap32 UTSW 9 32,063,232 (GRCm39) missense probably benign 0.32
R7183:Arhgap32 UTSW 9 32,097,679 (GRCm39) missense probably benign 0.15
R7251:Arhgap32 UTSW 9 32,119,481 (GRCm39) missense probably damaging 1.00
R7287:Arhgap32 UTSW 9 32,063,993 (GRCm39) missense
R7289:Arhgap32 UTSW 9 32,168,234 (GRCm39) missense probably benign 0.02
R7289:Arhgap32 UTSW 9 32,168,233 (GRCm39) missense possibly damaging 0.92
R7391:Arhgap32 UTSW 9 32,093,235 (GRCm39) missense probably benign 0.00
R7408:Arhgap32 UTSW 9 32,157,220 (GRCm39) missense probably benign 0.06
R7566:Arhgap32 UTSW 9 32,162,018 (GRCm39) missense probably benign 0.10
R7584:Arhgap32 UTSW 9 32,168,263 (GRCm39) missense probably benign 0.16
R7653:Arhgap32 UTSW 9 32,168,441 (GRCm39) missense probably benign
R7884:Arhgap32 UTSW 9 32,171,810 (GRCm39) missense possibly damaging 0.87
R8087:Arhgap32 UTSW 9 32,168,324 (GRCm39) missense probably benign 0.00
R8109:Arhgap32 UTSW 9 32,093,150 (GRCm39) missense probably benign 0.09
R8131:Arhgap32 UTSW 9 32,158,426 (GRCm39) missense probably damaging 1.00
R8155:Arhgap32 UTSW 9 32,093,196 (GRCm39) missense probably damaging 1.00
R8232:Arhgap32 UTSW 9 32,168,198 (GRCm39) missense probably damaging 1.00
R8303:Arhgap32 UTSW 9 32,172,205 (GRCm39) missense probably benign 0.00
R8304:Arhgap32 UTSW 9 32,167,233 (GRCm39) nonsense probably null
R8696:Arhgap32 UTSW 9 32,159,799 (GRCm39) missense possibly damaging 0.90
R8832:Arhgap32 UTSW 9 32,172,115 (GRCm39) missense possibly damaging 0.94
R9112:Arhgap32 UTSW 9 32,157,309 (GRCm39) missense probably damaging 0.99
R9170:Arhgap32 UTSW 9 32,162,039 (GRCm39) missense possibly damaging 0.47
R9279:Arhgap32 UTSW 9 32,168,655 (GRCm39) missense probably benign 0.01
R9431:Arhgap32 UTSW 9 32,170,463 (GRCm39) missense probably damaging 1.00
R9522:Arhgap32 UTSW 9 32,027,450 (GRCm39) missense probably benign
R9526:Arhgap32 UTSW 9 32,172,026 (GRCm39) missense probably benign 0.28
R9661:Arhgap32 UTSW 9 32,168,531 (GRCm39) missense probably benign 0.01
X0027:Arhgap32 UTSW 9 32,161,937 (GRCm39) critical splice acceptor site probably null
X0063:Arhgap32 UTSW 9 32,172,365 (GRCm39) missense probably damaging 1.00
Z1177:Arhgap32 UTSW 9 32,171,976 (GRCm39) missense probably damaging 0.97
Posted On 2016-08-02