Incidental Mutation 'R0004:Arhgap32'
| ID |
32395 |
| 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 |
038300-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0004 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
(trace)
|
| Chromosome |
9 |
| Chromosomal Location |
32027432-32179742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32063294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 101
(V101A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174641]
|
| AlphaFold |
Q811P8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174641
AA Change: V101A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133898
Gene: ENSMUSG00000041444
AA Change: V101A
| 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: V62A
|
| Meta Mutation Damage Score |
0.0750 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
98% (63/64) |
| 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 |
|---|
| Adal |
T |
C |
2: 120,982,966 (GRCm39) |
I86T |
probably damaging |
Het |
| Aff3 |
T |
C |
1: 38,308,807 (GRCm39) |
D376G |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,752,380 (GRCm39) |
H164Q |
possibly damaging |
Het |
| Akap12 |
A |
T |
10: 4,303,220 (GRCm39) |
D10V |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,364,828 (GRCm39) |
|
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,309,566 (GRCm39) |
D387G |
possibly damaging |
Het |
| Ccdc38 |
A |
T |
10: 93,409,964 (GRCm39) |
Q261L |
probably damaging |
Het |
| Cd180 |
T |
G |
13: 102,839,216 (GRCm39) |
V33G |
probably benign |
Het |
| Cd207 |
G |
A |
6: 83,651,230 (GRCm39) |
Q242* |
probably null |
Het |
| Cnp |
T |
C |
11: 100,467,633 (GRCm39) |
F192S |
probably damaging |
Het |
| Colec10 |
G |
T |
15: 54,274,271 (GRCm39) |
R33L |
possibly damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,819,390 (GRCm39) |
M16L |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,803,966 (GRCm39) |
M98L |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,950,918 (GRCm39) |
I2902V |
possibly damaging |
Het |
| Dtnb |
A |
G |
12: 3,646,635 (GRCm39) |
|
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,479,701 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ephb2 |
T |
A |
4: 136,384,835 (GRCm39) |
M860L |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,530,381 (GRCm39) |
T77A |
probably damaging |
Het |
| Fgfbp3 |
A |
G |
19: 36,896,082 (GRCm39) |
S179P |
possibly damaging |
Het |
| Foxp2 |
A |
G |
6: 15,197,095 (GRCm39) |
T45A |
possibly damaging |
Het |
| Gckr |
A |
T |
5: 31,454,933 (GRCm39) |
|
probably benign |
Het |
| Glce |
T |
A |
9: 61,975,861 (GRCm39) |
Q213L |
probably damaging |
Het |
| Gm1965 |
A |
C |
6: 89,123,469 (GRCm39) |
H84P |
unknown |
Het |
| Hbegf |
A |
G |
18: 36,640,559 (GRCm39) |
V166A |
probably damaging |
Het |
| Helb |
G |
T |
10: 119,944,886 (GRCm39) |
H217N |
probably damaging |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Kansl2 |
A |
G |
15: 98,418,257 (GRCm39) |
L392P |
probably damaging |
Het |
| Klra1 |
A |
T |
6: 130,349,836 (GRCm39) |
Y201N |
probably damaging |
Het |
| Klra3 |
A |
G |
6: 130,300,650 (GRCm39) |
S240P |
probably damaging |
Het |
| Liph |
T |
A |
16: 21,802,944 (GRCm39) |
R42* |
probably null |
Het |
| Lrp1 |
A |
T |
10: 127,377,694 (GRCm39) |
|
probably null |
Het |
| Luc7l2 |
A |
T |
6: 38,566,169 (GRCm39) |
K52M |
probably damaging |
Het |
| Mecom |
G |
A |
3: 30,034,060 (GRCm39) |
P215S |
probably damaging |
Het |
| Myo1g |
T |
A |
11: 6,465,901 (GRCm39) |
T395S |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,364,475 (GRCm39) |
M384K |
probably benign |
Het |
| Ndufb2 |
C |
T |
6: 39,573,438 (GRCm39) |
T51I |
possibly damaging |
Het |
| Nell1 |
C |
A |
7: 50,210,507 (GRCm39) |
|
probably benign |
Het |
| Or51k1 |
A |
T |
7: 103,661,638 (GRCm39) |
N90K |
probably benign |
Het |
| Oxr1 |
G |
A |
15: 41,683,936 (GRCm39) |
S434N |
possibly damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,290 (GRCm39) |
S423R |
probably benign |
Het |
| Pcdhb10 |
T |
A |
18: 37,545,012 (GRCm39) |
D29E |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,200,408 (GRCm39) |
T1053A |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,702,384 (GRCm39) |
H1184L |
probably damaging |
Het |
| Prkaa2 |
C |
T |
4: 104,904,288 (GRCm39) |
R263Q |
probably null |
Het |
| Prmt9 |
A |
G |
8: 78,282,411 (GRCm39) |
I103V |
possibly damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,135 (GRCm39) |
T678A |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,680,805 (GRCm39) |
Y3180C |
probably benign |
Het |
| Scaf1 |
T |
C |
7: 44,657,094 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,518,139 (GRCm39) |
N1024I |
possibly damaging |
Het |
| Sec23b |
T |
C |
2: 144,406,482 (GRCm39) |
|
probably benign |
Het |
| Sf1 |
C |
A |
19: 6,424,221 (GRCm39) |
P417Q |
probably damaging |
Het |
| Slc4a3 |
A |
T |
1: 75,533,653 (GRCm39) |
|
probably benign |
Het |
| Stk32a |
T |
C |
18: 43,438,121 (GRCm39) |
W207R |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,393,132 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
T |
9: 42,256,774 (GRCm39) |
V1634E |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,914,184 (GRCm39) |
F2450S |
probably damaging |
Het |
| Tgfb1 |
T |
C |
7: 25,391,791 (GRCm39) |
|
probably benign |
Het |
| Tpgs2 |
A |
G |
18: 25,291,295 (GRCm39) |
|
probably benign |
Het |
| Washc5 |
A |
G |
15: 59,239,316 (GRCm39) |
M149T |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,807,588 (GRCm39) |
V290D |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,370,626 (GRCm39) |
T688A |
possibly damaging |
Het |
| Zfp560 |
C |
T |
9: 20,259,263 (GRCm39) |
C533Y |
probably damaging |
Het |
| Zfp791 |
G |
A |
8: 85,837,495 (GRCm39) |
A123V |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGGGTCTCACTAGATGGTAGTGACA -3'
(R):5'- GCCAGCTCTATACGTTCTCGTTAGACAA -3'
Sequencing Primer
(F):5'- agccatctctccagccc -3'
(R):5'- GTTCTCGTTAGACAACTGCAAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation