Incidental Mutation 'IGL01791:Arhgap32'
ID 155205
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 # IGL01791
Quality Score
Status
Chromosome 9
Chromosomal Location 32027432-32179742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32158486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 174 (I174V)
Ref Sequence ENSEMBL: ENSMUSP00000138145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168954] [ENSMUST00000174641] [ENSMUST00000182802] [ENSMUST00000183121]
AlphaFold Q811P8
Predicted Effect probably damaging
Transcript: ENSMUST00000168954
AA Change: I174V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128448
Gene: ENSMUSG00000041444
AA Change: I174V

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 damaging
Transcript: ENSMUST00000174641
AA Change: I523V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133898
Gene: ENSMUSG00000041444
AA Change: I523V

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 noncoding transcript
Transcript: ENSMUST00000174730
Predicted Effect probably damaging
Transcript: ENSMUST00000182802
AA Change: I174V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138145
Gene: ENSMUSG00000041444
AA Change: I174V

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: ENSMUST00000183121
SMART Domains Protein: ENSMUSP00000138584
Gene: ENSMUSG00000041444

DomainStartEndE-ValueType
Pfam:RhoGAP 37 92 5.9e-11 PFAM
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb15 T A 6: 24,567,211 (GRCm39) C511S probably damaging Het
Atr C T 9: 95,803,834 (GRCm39) A1896V probably benign Het
B3gnt4 C T 5: 123,649,162 (GRCm39) R176C probably damaging Het
Brf1 T C 12: 112,926,095 (GRCm39) D557G probably benign Het
Catsperg2 T A 7: 29,404,090 (GRCm39) probably null Het
Cdip1 A G 16: 4,586,729 (GRCm39) I122T probably damaging Het
Ctrl C T 8: 106,659,199 (GRCm39) E147K probably benign Het
Dennd2c T C 3: 103,073,741 (GRCm39) V829A probably benign Het
Dync1h1 T A 12: 110,625,364 (GRCm39) L3874Q probably damaging Het
Dynlt4 T A 4: 116,985,794 (GRCm39) S206T probably damaging Het
Gm10521 T C 1: 171,723,964 (GRCm39) S92P unknown Het
Gm57858 T C 3: 36,089,416 (GRCm39) probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Hddc2 A G 10: 31,202,022 (GRCm39) Y123C probably damaging Het
Hyal4 T C 6: 24,763,894 (GRCm39) probably benign Het
Ighv16-1 T C 12: 114,032,589 (GRCm39) N71S probably benign Het
Ing2 A T 8: 48,122,070 (GRCm39) S159R probably benign Het
Itga1 A T 13: 115,124,197 (GRCm39) N698K probably benign Het
Lemd2 A T 17: 27,409,702 (GRCm39) I483N probably damaging Het
Lyst T C 13: 13,809,887 (GRCm39) L519P probably damaging Het
Mapk10 T C 5: 103,144,514 (GRCm39) N101S probably damaging Het
Nfatc4 A T 14: 56,069,695 (GRCm39) E164V probably null Het
Nfkb2 T G 19: 46,298,278 (GRCm39) probably benign Het
Nox3 A G 17: 3,733,218 (GRCm39) V231A possibly damaging Het
Nup160 G A 2: 90,534,197 (GRCm39) G674D probably damaging Het
Or1l4b A T 2: 37,036,548 (GRCm39) D108V probably damaging Het
Or56b1 C T 7: 104,285,682 (GRCm39) T267I possibly damaging Het
Otoa T G 7: 120,755,072 (GRCm39) V998G probably benign Het
Pcnx3 A T 19: 5,723,295 (GRCm39) M1300K probably benign Het
Pde4b A G 4: 102,448,127 (GRCm39) probably benign Het
Rfc1 T A 5: 65,420,488 (GRCm39) K1104I probably benign Het
Serpina1f G T 12: 103,659,761 (GRCm39) Q174K probably damaging Het
Serping1 T C 2: 84,603,721 (GRCm39) N107D possibly damaging Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Surf6 A G 2: 26,789,759 (GRCm39) S94P probably benign Het
Tigd4 T A 3: 84,502,052 (GRCm39) I323N probably damaging Het
Vmn2r28 T C 7: 5,491,161 (GRCm39) D362G probably benign Het
Wdfy3 A G 5: 102,085,278 (GRCm39) S739P probably damaging 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
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
IGL03286:Arhgap32 APN 9 32,170,816 (GRCm39) missense probably benign 0.06
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 2014-02-04