Incidental Mutation 'R7287:Arhgap32'
| ID |
566104 |
| 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 |
045321-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
32027432-32179742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32063993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 77
(D77G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174641]
|
| AlphaFold |
Q811P8 |
| 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 |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (71/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,604,861 (GRCm39) |
D656G |
possibly damaging |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,762,534 (GRCm39) |
H1209R |
probably damaging |
Het |
| Adam26a |
T |
C |
8: 44,023,380 (GRCm39) |
T37A |
possibly damaging |
Het |
| Adamts9 |
C |
T |
6: 92,866,984 (GRCm39) |
R685Q |
possibly damaging |
Het |
| Anapc7 |
T |
A |
5: 122,571,499 (GRCm39) |
N191K |
probably benign |
Het |
| Ankrd26 |
C |
T |
6: 118,526,598 (GRCm39) |
|
probably null |
Het |
| Ap5z1 |
T |
C |
5: 142,459,802 (GRCm39) |
L484P |
probably damaging |
Het |
| Atp10a |
T |
A |
7: 58,477,017 (GRCm39) |
D1213E |
probably damaging |
Het |
| B3gnt8 |
T |
C |
7: 25,328,395 (GRCm39) |
L275P |
probably damaging |
Het |
| Bltp2 |
G |
A |
11: 78,163,709 (GRCm39) |
R1059H |
possibly damaging |
Het |
| Cab39 |
A |
G |
1: 85,746,182 (GRCm39) |
E21G |
probably benign |
Het |
| Capn15 |
G |
T |
17: 26,179,429 (GRCm39) |
S948R |
probably damaging |
Het |
| Cbarp |
T |
C |
10: 79,973,154 (GRCm39) |
T15A |
unknown |
Het |
| Ccdc81 |
C |
T |
7: 89,542,331 (GRCm39) |
A182T |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,922,688 (GRCm39) |
H766R |
probably benign |
Het |
| Cfl1 |
T |
C |
19: 5,542,562 (GRCm39) |
V14A |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,850,312 (GRCm39) |
I875T |
probably benign |
Het |
| Cidec |
T |
A |
6: 113,405,359 (GRCm39) |
E121D |
probably benign |
Het |
| Clpx |
C |
A |
9: 65,207,295 (GRCm39) |
Y64* |
probably null |
Het |
| Cntn1 |
T |
A |
15: 92,143,833 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
A |
G |
2: 170,327,826 (GRCm39) |
L472P |
probably damaging |
Het |
| Dcdc2c |
G |
T |
12: 28,566,685 (GRCm39) |
D159E |
probably benign |
Het |
| Emp1 |
T |
C |
6: 135,357,167 (GRCm39) |
F82L |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,404 (GRCm39) |
T619A |
probably benign |
Het |
| Fgf15 |
A |
T |
7: 144,450,531 (GRCm39) |
D39V |
probably benign |
Het |
| Galnt12 |
T |
G |
4: 47,108,525 (GRCm39) |
F221V |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,628,965 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
G |
A |
4: 137,256,867 (GRCm39) |
V1537I |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,025,154 (GRCm39) |
|
probably null |
Het |
| Insr |
G |
A |
8: 3,219,717 (GRCm39) |
T935I |
probably benign |
Het |
| Itgax |
G |
A |
7: 127,747,677 (GRCm39) |
C1031Y |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Kmt5b |
T |
C |
19: 3,854,501 (GRCm39) |
Y255H |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,051,877 (GRCm39) |
Y292N |
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,917,717 (GRCm39) |
F318S |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,070,076 (GRCm39) |
N311D |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nlrp9b |
T |
C |
7: 19,762,381 (GRCm39) |
C673R |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,612,563 (GRCm39) |
V74A |
probably benign |
Het |
| Or10ak12 |
T |
A |
4: 118,666,939 (GRCm39) |
T41S |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,669 (GRCm39) |
I47F |
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,690,347 (GRCm39) |
Q677L |
probably benign |
Het |
| Pmel |
C |
T |
10: 128,551,095 (GRCm39) |
Q113* |
probably null |
Het |
| Pom121l2 |
T |
A |
13: 22,168,502 (GRCm39) |
F924L |
probably benign |
Het |
| Poteg |
G |
A |
8: 27,943,372 (GRCm39) |
R214K |
probably null |
Het |
| Pprc1 |
G |
T |
19: 46,059,793 (GRCm39) |
S1480I |
unknown |
Het |
| Secisbp2l |
A |
G |
2: 125,582,289 (GRCm39) |
S1056P |
probably benign |
Het |
| Selenoo |
T |
C |
15: 88,982,903 (GRCm39) |
F477L |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,837,114 (GRCm39) |
D121G |
probably damaging |
Het |
| Slc25a11 |
T |
C |
11: 70,536,181 (GRCm39) |
D211G |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,253,752 (GRCm39) |
D131G |
probably benign |
Het |
| Tcf25 |
G |
A |
8: 124,100,711 (GRCm39) |
A34T |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,205,818 (GRCm39) |
Y530H |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
G |
T |
5: 128,061,415 (GRCm39) |
Q396K |
probably damaging |
Het |
| Tmem154 |
A |
G |
3: 84,597,870 (GRCm39) |
T136A |
possibly damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,763,742 (GRCm39) |
T415A |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,517,925 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
T |
C |
7: 4,128,657 (GRCm39) |
Y185H |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,254,852 (GRCm39) |
T535S |
probably benign |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,201 (GRCm39) |
L23P |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,829,040 (GRCm39) |
H78L |
possibly damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,460 (GRCm39) |
T608A |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,614,430 (GRCm39) |
I1104V |
|
Het |
| Zbtb2 |
C |
T |
10: 4,318,986 (GRCm39) |
D347N |
possibly damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,575,453 (GRCm39) |
S543T |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,692 (GRCm39) |
N518S |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,016,775 (GRCm39) |
V852A |
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 |
|
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'- AGAATACCTGAATCTTTGCCCC -3'
(R):5'- TGAATACTGCACTGAGTGGATAG -3'
Sequencing Primer
(F):5'- CCTTTGAGCTCAATTTGGAGACCAG -3'
(R):5'- CTGCACTGAGTGGATAGATATGAACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation