Incidental Mutation 'R0508:Arhgap32'
| ID |
47731 |
| 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 |
038703-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0508 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
32027432-32179742 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 32101364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174641]
|
| AlphaFold |
Q811P8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174314
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174641
|
| SMART Domains |
Protein: ENSMUSP00000133898
Gene: ENSMUSG00000041444
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
99% (67/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,211,162 (GRCm39) |
L632P |
probably damaging |
Het |
| 4833439L19Rik |
A |
G |
13: 54,700,863 (GRCm39) |
|
probably null |
Het |
| Abca4 |
T |
C |
3: 121,917,200 (GRCm39) |
|
probably benign |
Het |
| Adamts10 |
G |
T |
17: 33,762,692 (GRCm39) |
G557V |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,326,360 (GRCm39) |
H424R |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,816,839 (GRCm39) |
Q623R |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,564,364 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,702,222 (GRCm39) |
S1092P |
unknown |
Het |
| Arhgap40 |
A |
T |
2: 158,388,670 (GRCm39) |
S535C |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,491,446 (GRCm39) |
|
probably null |
Het |
| Bicral |
A |
T |
17: 47,136,327 (GRCm39) |
H294Q |
possibly damaging |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,502,685 (GRCm39) |
K340E |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,812 (GRCm39) |
H58L |
probably benign |
Het |
| Cenpt |
T |
C |
8: 106,576,147 (GRCm39) |
E100G |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,750,969 (GRCm39) |
S16P |
probably benign |
Het |
| Clec2i |
T |
A |
6: 128,870,663 (GRCm39) |
V67D |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,805,262 (GRCm39) |
L146P |
unknown |
Het |
| Coq6 |
G |
T |
12: 84,414,913 (GRCm39) |
|
probably benign |
Het |
| Cyp1a1 |
A |
G |
9: 57,607,588 (GRCm39) |
Q72R |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,887,374 (GRCm39) |
S570P |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,970,535 (GRCm39) |
N1027S |
probably damaging |
Het |
| Exog |
T |
A |
9: 119,277,444 (GRCm39) |
|
probably benign |
Het |
| Fahd1 |
A |
C |
17: 25,068,975 (GRCm39) |
V34G |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,748,045 (GRCm39) |
R74W |
probably benign |
Het |
| Fhip2a |
T |
A |
19: 57,367,174 (GRCm39) |
L239Q |
probably benign |
Het |
| Frmpd1 |
G |
A |
4: 45,284,938 (GRCm39) |
G1253D |
unknown |
Het |
| Galnt12 |
A |
G |
4: 47,104,255 (GRCm39) |
D171G |
probably damaging |
Het |
| Gm973 |
G |
T |
1: 59,621,649 (GRCm39) |
|
probably benign |
Het |
| Hdlbp |
C |
A |
1: 93,342,533 (GRCm39) |
|
probably null |
Het |
| Il1rl1 |
T |
A |
1: 40,490,877 (GRCm39) |
I386N |
possibly damaging |
Het |
| Itgav |
T |
C |
2: 83,623,002 (GRCm39) |
|
probably benign |
Het |
| Magoh |
A |
C |
4: 107,742,195 (GRCm39) |
K114Q |
possibly damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,215,005 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,302,075 (GRCm39) |
D986E |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,570,131 (GRCm39) |
S397N |
possibly damaging |
Het |
| Nckap5 |
T |
C |
1: 125,909,121 (GRCm39) |
|
probably null |
Het |
| Neu1 |
A |
G |
17: 35,151,760 (GRCm39) |
I185V |
probably benign |
Het |
| Nkiras1 |
T |
A |
14: 18,278,524 (GRCm38) |
D79E |
probably damaging |
Het |
| Nkx3-1 |
A |
G |
14: 69,428,350 (GRCm39) |
E66G |
probably benign |
Het |
| Or51a5 |
A |
T |
7: 102,771,193 (GRCm39) |
I262N |
possibly damaging |
Het |
| Osbpl11 |
T |
A |
16: 33,016,465 (GRCm39) |
N73K |
probably benign |
Het |
| Otulin |
C |
T |
15: 27,608,944 (GRCm39) |
V2I |
possibly damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,443,368 (GRCm39) |
M421T |
probably damaging |
Het |
| Rgs11 |
A |
G |
17: 26,426,443 (GRCm39) |
|
probably benign |
Het |
| Rrad |
A |
T |
8: 105,356,500 (GRCm39) |
D133E |
possibly damaging |
Het |
| Scaf11 |
A |
G |
15: 96,318,368 (GRCm39) |
S399P |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,508,080 (GRCm39) |
|
probably null |
Het |
| Scn2a |
A |
G |
2: 65,548,186 (GRCm39) |
E1126G |
probably damaging |
Het |
| Selenop |
T |
G |
15: 3,305,202 (GRCm39) |
D119E |
probably benign |
Het |
| Serpinb3c |
T |
A |
1: 107,204,651 (GRCm39) |
S32C |
probably damaging |
Het |
| Serpine1 |
C |
A |
5: 137,093,770 (GRCm39) |
K315N |
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,032,872 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
G |
A |
15: 100,686,973 (GRCm39) |
R259Q |
probably benign |
Het |
| Smtnl2 |
C |
T |
11: 72,293,962 (GRCm39) |
R198Q |
probably damaging |
Het |
| Spta1 |
A |
C |
1: 174,052,023 (GRCm39) |
Y1819S |
probably damaging |
Het |
| Stard3 |
T |
A |
11: 98,263,140 (GRCm39) |
I65N |
probably damaging |
Het |
| Tfrc |
T |
C |
16: 32,448,997 (GRCm39) |
L712P |
probably damaging |
Het |
| Tmem201 |
G |
A |
4: 149,816,343 (GRCm39) |
R62C |
probably damaging |
Het |
| Trim5 |
A |
T |
7: 103,914,811 (GRCm39) |
F410L |
probably null |
Het |
| Txndc2 |
T |
A |
17: 65,944,948 (GRCm39) |
I410F |
probably benign |
Het |
| Urb1 |
C |
T |
16: 90,580,150 (GRCm39) |
|
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,392 (GRCm39) |
F115L |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,770,910 (GRCm39) |
V46A |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,933,789 (GRCm39) |
S1615R |
probably benign |
Het |
| Zfand4 |
T |
A |
6: 116,262,828 (GRCm39) |
C118S |
probably damaging |
Het |
| Zfp952 |
G |
A |
17: 33,221,979 (GRCm39) |
E115K |
possibly damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,061,872 (GRCm39) |
F368L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAAGTGATGGTGATGCAGTGATAC -3'
(R):5'- GGCAGGACAGTACTACTACATGCAGG -3'
Sequencing Primer
(F):5'- acttgttgtcctcttctgacc -3'
(R):5'- GGAATCAAGGCTAACACTGTCATC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation