Incidental Mutation 'R4670:Arhgap32'
ID |
348370 |
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 |
041926-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4670 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
32027432-32179742 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32081441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 153
(E153G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174641]
|
AlphaFold |
Q811P8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000174641
AA Change: E153G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000133898 Gene: ENSMUSG00000041444 AA Change: E153G
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 |
unknown
Transcript: ENSMUST00000182310
AA Change: E128G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213983
|
Meta Mutation Damage Score |
0.1562 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (69/71) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm5 |
T |
A |
7: 119,130,983 (GRCm39) |
|
probably null |
Het |
Alb |
T |
A |
5: 90,610,665 (GRCm39) |
S82T |
probably benign |
Het |
Arf4 |
A |
G |
14: 26,374,248 (GRCm39) |
|
probably benign |
Het |
Arhgap22 |
T |
C |
14: 33,084,500 (GRCm39) |
C260R |
probably damaging |
Het |
Arhgef18 |
T |
A |
8: 3,484,897 (GRCm39) |
M200K |
probably damaging |
Het |
Atp1a4 |
T |
A |
1: 172,062,567 (GRCm39) |
N647Y |
probably benign |
Het |
Atp5f1c |
A |
T |
2: 10,064,428 (GRCm39) |
L226Q |
probably damaging |
Het |
Bcas1 |
T |
C |
2: 170,226,245 (GRCm39) |
K310R |
probably damaging |
Het |
Cadm3 |
T |
A |
1: 173,174,013 (GRCm39) |
T67S |
probably damaging |
Het |
Cartpt |
C |
T |
13: 100,036,588 (GRCm39) |
|
probably null |
Het |
Cenpj |
A |
T |
14: 56,790,840 (GRCm39) |
V403E |
possibly damaging |
Het |
Chst7 |
C |
A |
X: 19,927,110 (GRCm39) |
R386S |
probably damaging |
Het |
Cyp4f37 |
A |
T |
17: 32,844,126 (GRCm39) |
M77L |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,117,684 (GRCm39) |
D50V |
probably damaging |
Het |
Galnt4 |
A |
G |
10: 98,945,160 (GRCm39) |
D295G |
possibly damaging |
Het |
Gin1 |
C |
T |
1: 97,712,565 (GRCm39) |
P154S |
probably damaging |
Het |
Gm6471 |
G |
A |
7: 142,385,360 (GRCm39) |
|
noncoding transcript |
Het |
Gm6818 |
T |
A |
7: 38,101,981 (GRCm39) |
|
noncoding transcript |
Het |
Gm9271 |
T |
A |
7: 39,013,734 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
A |
G |
19: 55,084,551 (GRCm39) |
|
probably null |
Het |
Gpr183 |
T |
C |
14: 122,192,149 (GRCm39) |
D124G |
probably damaging |
Het |
Ift140 |
C |
A |
17: 25,317,935 (GRCm39) |
|
probably benign |
Het |
Itih5 |
A |
C |
2: 10,195,180 (GRCm39) |
I191L |
probably benign |
Het |
Jcad |
A |
G |
18: 4,674,175 (GRCm39) |
T646A |
probably benign |
Het |
Kank1 |
T |
C |
19: 25,387,944 (GRCm39) |
M511T |
probably benign |
Het |
Krt74 |
A |
T |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
Lrrc37a |
A |
G |
11: 103,395,363 (GRCm39) |
S21P |
probably benign |
Het |
Lrrc8c |
G |
A |
5: 105,756,240 (GRCm39) |
V672I |
probably benign |
Het |
Lypd4 |
T |
C |
7: 24,566,151 (GRCm39) |
R58G |
probably benign |
Het |
Magi1 |
A |
T |
6: 93,663,624 (GRCm39) |
|
probably null |
Het |
Mefv |
T |
A |
16: 3,526,071 (GRCm39) |
L745F |
possibly damaging |
Het |
Myh13 |
A |
T |
11: 67,255,564 (GRCm39) |
K1645* |
probably null |
Het |
Naip6 |
A |
G |
13: 100,431,239 (GRCm39) |
|
probably null |
Het |
Nlrp1c-ps |
T |
C |
11: 71,171,382 (GRCm39) |
|
noncoding transcript |
Het |
Nsmce3 |
A |
T |
7: 64,522,530 (GRCm39) |
L46Q |
probably benign |
Het |
Or51aa2 |
A |
G |
7: 103,188,393 (GRCm39) |
V16A |
possibly damaging |
Het |
Or6k6 |
T |
A |
1: 173,945,427 (GRCm39) |
M52L |
probably benign |
Het |
Or8k37 |
T |
C |
2: 86,469,512 (GRCm39) |
D180G |
possibly damaging |
Het |
P2ry12 |
T |
C |
3: 59,125,325 (GRCm39) |
|
probably null |
Het |
Pcx |
T |
A |
19: 4,669,916 (GRCm39) |
V861E |
probably damaging |
Het |
Pkp3 |
C |
T |
7: 140,662,612 (GRCm39) |
P75S |
probably benign |
Het |
Plscr4 |
T |
C |
9: 92,364,920 (GRCm39) |
|
probably null |
Het |
Pole |
A |
G |
5: 110,454,253 (GRCm39) |
T923A |
probably benign |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Rhot2 |
A |
C |
17: 26,060,305 (GRCm39) |
|
probably benign |
Het |
Rsrp1 |
A |
G |
4: 134,651,488 (GRCm39) |
Y84C |
unknown |
Het |
Sbf2 |
T |
C |
7: 109,934,606 (GRCm39) |
K1348E |
probably damaging |
Het |
Sgip1 |
A |
T |
4: 102,726,951 (GRCm39) |
N53Y |
probably damaging |
Het |
Snapc2 |
A |
G |
8: 4,304,998 (GRCm39) |
T127A |
possibly damaging |
Het |
Snx8 |
A |
G |
5: 140,341,713 (GRCm39) |
|
probably null |
Het |
Spag8 |
A |
G |
4: 43,653,378 (GRCm39) |
|
probably benign |
Het |
Srebf2 |
T |
C |
15: 82,076,503 (GRCm39) |
F718L |
probably damaging |
Het |
Szt2 |
C |
G |
4: 118,233,026 (GRCm39) |
|
probably benign |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Tubgcp4 |
T |
A |
2: 121,004,146 (GRCm39) |
Y62* |
probably null |
Het |
Usp29 |
T |
A |
7: 6,965,914 (GRCm39) |
S586T |
possibly damaging |
Het |
Vasp |
T |
C |
7: 18,998,350 (GRCm39) |
N108S |
probably benign |
Het |
Vmn1r214 |
A |
G |
13: 23,219,141 (GRCm39) |
M212V |
probably benign |
Het |
Wipi2 |
G |
C |
5: 142,645,345 (GRCm39) |
A194P |
probably benign |
Het |
Zbtb4 |
T |
A |
11: 69,667,355 (GRCm39) |
I220N |
probably damaging |
Het |
Zcchc2 |
A |
T |
1: 105,917,996 (GRCm39) |
|
probably benign |
Het |
Zfp729a |
T |
A |
13: 67,769,534 (GRCm39) |
K232* |
probably null |
Het |
Zfp995 |
A |
T |
17: 22,106,320 (GRCm39) |
M1K |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTTAAGCTGTAGACTTATAAGGC -3'
(R):5'- GTGTGCTCACTGAACAATGGC -3'
Sequencing Primer
(F):5'- ATAAGGCACATTAGCTTGGTGTC -3'
(R):5'- GCTCACTGAACAATGGCATAATTAC -3'
|
Posted On |
2015-10-08 |