Incidental Mutation 'R7251:Arhgap32'
ID |
563931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap32
|
Ensembl Gene |
ENSMUSG00000041444 |
Gene Name |
Rho GTPase activating protein 32 |
Synonyms |
p200RhoGAP, Grit, PX-RICS, GC-GAP, 3426406O18Rik |
MMRRC Submission |
045313-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7251 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
32027432-32179742 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32119481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 308
(V308A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174641]
[ENSMUST00000182802]
|
AlphaFold |
Q811P8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174641
AA Change: V308A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133898 Gene: ENSMUSG00000041444 AA Change: V308A
Domain | Start | End | E-Value | Type |
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
|
SMART Domains |
Protein: ENSMUSP00000138145 Gene: ENSMUSG00000041444
Domain | Start | End | E-Value | Type |
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 |
|
Meta Mutation Damage Score |
0.3262 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
97% (66/68) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930480E11Rik |
G |
T |
X: 77,414,311 (GRCm39) |
M345I |
probably benign |
Het |
Adamts19 |
A |
T |
18: 58,970,974 (GRCm39) |
D186V |
probably damaging |
Het |
Agrn |
T |
C |
4: 156,259,063 (GRCm39) |
D884G |
probably damaging |
Het |
Akr1c6 |
T |
A |
13: 4,497,019 (GRCm39) |
C154S |
probably damaging |
Het |
Apob |
T |
C |
12: 8,057,037 (GRCm39) |
Y1840H |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,269,200 (GRCm39) |
E399G |
possibly damaging |
Het |
Arg2 |
G |
A |
12: 79,197,572 (GRCm39) |
G197S |
probably damaging |
Het |
Atcay |
A |
T |
10: 81,046,366 (GRCm39) |
C319* |
probably null |
Het |
Bend4 |
C |
G |
5: 67,584,876 (GRCm39) |
R16P |
unknown |
Het |
Braf |
A |
G |
6: 39,654,504 (GRCm39) |
|
probably null |
Het |
Camsap1 |
T |
C |
2: 25,828,898 (GRCm39) |
E942G |
probably damaging |
Het |
Cdpf1 |
C |
T |
15: 85,693,494 (GRCm39) |
G11D |
probably damaging |
Het |
Cgn |
T |
C |
3: 94,683,509 (GRCm39) |
E382G |
possibly damaging |
Het |
Cndp1 |
T |
A |
18: 84,640,322 (GRCm39) |
E294D |
probably benign |
Het |
Cnn1 |
T |
A |
9: 22,019,513 (GRCm39) |
Y294N |
unknown |
Het |
Cyp2ab1 |
A |
G |
16: 20,134,646 (GRCm39) |
F104S |
possibly damaging |
Het |
Cyp2t4 |
G |
A |
7: 26,857,144 (GRCm39) |
V336M |
possibly damaging |
Het |
D430041D05Rik |
T |
A |
2: 104,051,511 (GRCm39) |
D782V |
probably damaging |
Het |
Ddx39b |
A |
G |
17: 35,472,464 (GRCm39) |
*429W |
probably null |
Het |
Dgkb |
T |
C |
12: 38,031,985 (GRCm39) |
S16P |
possibly damaging |
Het |
Dll4 |
T |
C |
2: 119,162,773 (GRCm39) |
C465R |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,377,524 (GRCm39) |
I1770V |
probably benign |
Het |
Fbxw11 |
A |
G |
11: 32,681,370 (GRCm39) |
N250S |
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,809,425 (GRCm39) |
V1915M |
possibly damaging |
Het |
Greb1l |
G |
A |
18: 10,515,319 (GRCm39) |
V704M |
probably damaging |
Het |
Hgf |
T |
A |
5: 16,798,942 (GRCm39) |
N323K |
possibly damaging |
Het |
Hhatl |
A |
T |
9: 121,614,116 (GRCm39) |
|
probably null |
Het |
Hip1r |
T |
C |
5: 124,132,813 (GRCm39) |
S204P |
probably damaging |
Het |
Igsf10 |
T |
A |
3: 59,226,875 (GRCm39) |
N2266I |
probably damaging |
Het |
Krtap15-1 |
A |
G |
16: 88,625,982 (GRCm39) |
|
probably null |
Het |
Lrp1 |
T |
C |
10: 127,408,423 (GRCm39) |
D1751G |
probably damaging |
Het |
Madd |
A |
T |
2: 90,992,521 (GRCm39) |
D1050E |
probably benign |
Het |
Man1c1 |
C |
T |
4: 134,308,147 (GRCm39) |
G323R |
probably damaging |
Het |
Mgll |
A |
G |
6: 88,800,357 (GRCm39) |
E252G |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,278,965 (GRCm39) |
N145S |
possibly damaging |
Het |
Ncoa2 |
C |
T |
1: 13,218,599 (GRCm39) |
S1410N |
probably benign |
Het |
Nek10 |
A |
G |
14: 14,853,965 (GRCm38) |
T384A |
probably benign |
Het |
Nexn |
T |
C |
3: 151,952,832 (GRCm39) |
E310G |
probably damaging |
Het |
Nol10 |
T |
C |
12: 17,452,108 (GRCm39) |
L354P |
probably damaging |
Het |
Npy4r |
T |
C |
14: 33,868,872 (GRCm39) |
R139G |
probably damaging |
Het |
Nup160 |
A |
G |
2: 90,530,518 (GRCm39) |
E463G |
probably damaging |
Het |
Or14c44 |
T |
C |
7: 86,062,209 (GRCm39) |
V213A |
probably benign |
Het |
Or52a33 |
C |
T |
7: 103,288,909 (GRCm39) |
G146D |
probably damaging |
Het |
Or8j3c |
G |
A |
2: 86,253,940 (GRCm39) |
L27F |
probably benign |
Het |
Pdzd8 |
A |
T |
19: 59,289,077 (GRCm39) |
N774K |
possibly damaging |
Het |
Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
Pot1a |
T |
C |
6: 25,752,497 (GRCm39) |
|
probably null |
Het |
Ppip5k1 |
T |
A |
2: 121,178,052 (GRCm39) |
E283D |
probably benign |
Het |
Ptpn2 |
A |
C |
18: 67,808,862 (GRCm39) |
I318R |
possibly damaging |
Het |
Raph1 |
A |
G |
1: 60,529,027 (GRCm39) |
F745L |
unknown |
Het |
Rgs19 |
C |
T |
2: 181,331,541 (GRCm39) |
V88I |
probably benign |
Het |
Ripk4 |
A |
G |
16: 97,544,449 (GRCm39) |
S733P |
probably benign |
Het |
Rprd1b |
T |
A |
2: 157,870,899 (GRCm39) |
W29R |
probably damaging |
Het |
Rtkn |
A |
G |
6: 83,112,943 (GRCm39) |
N5S |
probably damaging |
Het |
Sh3bp5l |
A |
T |
11: 58,232,128 (GRCm39) |
Q131L |
probably damaging |
Het |
Slain2 |
T |
A |
5: 73,131,891 (GRCm39) |
F461I |
possibly damaging |
Het |
Stk24 |
A |
T |
14: 121,545,434 (GRCm39) |
L108Q |
probably damaging |
Het |
Syne3 |
TC |
T |
12: 104,927,830 (GRCm39) |
|
probably null |
Het |
Tapbpl |
A |
T |
6: 125,203,558 (GRCm39) |
V374E |
probably damaging |
Het |
Tax1bp1 |
A |
G |
6: 52,698,341 (GRCm39) |
I18V |
possibly damaging |
Het |
Tecta |
T |
A |
9: 42,299,048 (GRCm39) |
I233F |
probably damaging |
Het |
Tet3 |
A |
G |
6: 83,381,038 (GRCm39) |
S377P |
probably benign |
Het |
Uty |
A |
G |
Y: 1,154,262 (GRCm39) |
S721P |
probably benign |
Het |
Wnk4 |
C |
A |
11: 101,155,979 (GRCm39) |
T412K |
possibly damaging |
Het |
Zdhhc11 |
G |
T |
13: 74,140,216 (GRCm39) |
V336L |
probably benign |
Het |
Zfp605 |
T |
A |
5: 110,275,826 (GRCm39) |
S315T |
probably damaging |
Het |
Zfp746 |
A |
G |
6: 48,041,811 (GRCm39) |
L305P |
probably damaging |
Het |
|
Other mutations in Arhgap32 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
32,040,949 (GRCm39) |
missense |
probably damaging |
0.99 |
R4785:Arhgap32
|
UTSW |
9 |
32,172,076 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCTTCATATACTCATAGCAACAG -3'
(R):5'- TGTAACACGCTCTACACAAAGG -3'
Sequencing Primer
(F):5'- GCGGAGTACATTACTGGA -3'
(R):5'- CATGCGTTACATCAATAAATGCAAAG -3'
|
Posted On |
2019-06-26 |