Incidental Mutation 'R9522:Arhgap32'
| ID |
718960 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9522 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
32027432-32179742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32027450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 7
(T7A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174641]
|
| AlphaFold |
Q811P8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174641
AA Change: T7A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133898
Gene: ENSMUSG00000041444
AA Change: T7A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,847,368 (GRCm39) |
Y744F |
probably null |
Het |
| Adam17 |
C |
A |
12: 21,395,693 (GRCm39) |
V277F |
probably damaging |
Het |
| Adcy8 |
C |
T |
15: 64,792,560 (GRCm39) |
C132Y |
probably damaging |
Het |
| Adgrf3 |
G |
A |
5: 30,404,482 (GRCm39) |
P318L |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,579,398 (GRCm39) |
I212N |
probably damaging |
Het |
| Allc |
A |
T |
12: 28,620,653 (GRCm39) |
F33I |
probably damaging |
Het |
| Bbs4 |
A |
G |
9: 59,260,691 (GRCm39) |
|
probably null |
Het |
| Btbd1 |
G |
T |
7: 81,479,081 (GRCm39) |
P20H |
unknown |
Het |
| Cass4 |
A |
G |
2: 172,269,348 (GRCm39) |
I477V |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,586,184 (GRCm39) |
E362G |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cimip2c |
A |
T |
5: 30,623,467 (GRCm39) |
S5C |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,412,347 (GRCm39) |
D896G |
probably benign |
Het |
| Crocc2 |
T |
C |
1: 93,117,429 (GRCm39) |
V305A |
probably benign |
Het |
| Cse1l |
G |
A |
2: 166,776,673 (GRCm39) |
V495I |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,152,257 (GRCm39) |
Y36* |
probably null |
Het |
| Ctss |
T |
G |
3: 95,454,109 (GRCm39) |
D220E |
probably benign |
Het |
| Ctu1 |
T |
C |
7: 43,324,900 (GRCm39) |
L113P |
probably benign |
Het |
| Cyp2d40 |
G |
A |
15: 82,648,274 (GRCm39) |
A13V |
possibly damaging |
Het |
| Dhrs4 |
A |
T |
14: 55,716,219 (GRCm39) |
|
probably benign |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dpysl5 |
C |
A |
5: 30,935,399 (GRCm39) |
Y167* |
probably null |
Het |
| E4f1 |
C |
T |
17: 24,666,096 (GRCm39) |
G234D |
probably damaging |
Het |
| Eif3g |
G |
T |
9: 20,809,451 (GRCm39) |
T27N |
probably benign |
Het |
| Eif3g |
T |
A |
9: 20,809,452 (GRCm39) |
T27S |
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,164,101 (GRCm39) |
F343L |
possibly damaging |
Het |
| Fdft1 |
T |
C |
14: 63,396,597 (GRCm39) |
|
probably null |
Het |
| Hsd3b9 |
T |
C |
3: 98,353,783 (GRCm39) |
S239G |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,917,215 (GRCm39) |
Q1562K |
probably benign |
Het |
| Ilf3 |
G |
A |
9: 21,305,533 (GRCm39) |
V232I |
probably benign |
Het |
| Irx5 |
C |
T |
8: 93,087,259 (GRCm39) |
T397M |
possibly damaging |
Het |
| Kif16b |
A |
T |
2: 142,691,827 (GRCm39) |
V219D |
probably damaging |
Het |
| Klkb1 |
T |
C |
8: 45,730,052 (GRCm39) |
I276M |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,200,266 (GRCm39) |
L115P |
probably damaging |
Het |
| Lrrc3b |
T |
C |
14: 15,358,423 (GRCm38) |
D61G |
probably benign |
Het |
| Map7 |
A |
G |
10: 20,105,642 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Moxd2 |
T |
A |
6: 40,857,375 (GRCm39) |
I462F |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or5b98 |
T |
A |
19: 12,931,377 (GRCm39) |
C141* |
probably null |
Het |
| Or9m2 |
G |
A |
2: 87,821,175 (GRCm39) |
C240Y |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,504,669 (GRCm39) |
V770A |
possibly damaging |
Het |
| Ppfia4 |
G |
A |
1: 134,240,886 (GRCm39) |
A819V |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,236,676 (GRCm39) |
W242R |
probably damaging |
Het |
| Rgs3 |
A |
G |
4: 62,523,729 (GRCm39) |
I53M |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,971,311 (GRCm39) |
F263S |
probably damaging |
Het |
| Rpl22l1 |
T |
C |
3: 28,860,743 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,560,759 (GRCm39) |
I3001F |
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,873,900 (GRCm39) |
I675T |
probably damaging |
Het |
| Scart2 |
T |
A |
7: 139,853,987 (GRCm39) |
I330N |
possibly damaging |
Het |
| Sec16b |
C |
T |
1: 157,392,335 (GRCm39) |
S901L |
probably damaging |
Het |
| Setd5 |
T |
G |
6: 113,091,995 (GRCm39) |
I272S |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,948,672 (GRCm39) |
M536K |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,103,825 (GRCm39) |
V232A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,780 (GRCm39) |
S643P |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 57,019,107 (GRCm39) |
D251G |
probably benign |
Het |
| Tbccd1 |
T |
C |
16: 22,641,249 (GRCm39) |
E376G |
possibly damaging |
Het |
| Tmem184a |
G |
T |
5: 139,791,485 (GRCm39) |
P368T |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,539,309 (GRCm39) |
D362G |
probably damaging |
Het |
| Top6bl |
T |
C |
19: 4,677,274 (GRCm39) |
H612R |
probably benign |
Het |
| Ugt3a1 |
C |
A |
15: 9,370,209 (GRCm39) |
P451H |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,677,221 (GRCm39) |
C2050Y |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn1r179 |
T |
C |
7: 23,628,202 (GRCm39) |
V131A |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,679,924 (GRCm39) |
F110S |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,232,379 (GRCm39) |
Y282C |
probably damaging |
Het |
| Zscan18 |
T |
C |
7: 12,503,297 (GRCm39) |
D754G |
possibly 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 |
|
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 |
|
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'- CCTGTCTGTAGTCCCAACTG -3'
(R):5'- AAGGAAAAGCTGCCCTCTTCC -3'
Sequencing Primer
(F):5'- TGTCTGTAGTCCCAACTGTAATG -3'
(R):5'- CTGACCGAGAGAGAAGTCTTACTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation