Incidental Mutation 'R0225:Arhgap23'
| ID |
33871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap23
|
| Ensembl Gene |
ENSMUSG00000049807 |
| Gene Name |
Rho GTPase activating protein 23 |
| Synonyms |
|
| MMRRC Submission |
038470-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0225 (G1)
|
| Quality Score |
150 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 97335154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 70
(V70L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121799]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121799
AA Change: V70L
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000112999
Gene: ENSMUSG00000049807
AA Change: V70L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
29 |
N/A |
INTRINSIC |
|
PDZ
|
52 |
160 |
4.2e-17 |
SMART |
|
low complexity region
|
457 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
637 |
654 |
N/A |
INTRINSIC |
|
PH
|
690 |
811 |
3.2e-12 |
SMART |
|
low complexity region
|
890 |
898 |
N/A |
INTRINSIC |
|
RhoGAP
|
918 |
1095 |
6.83e-65 |
SMART |
|
low complexity region
|
1262 |
1277 |
N/A |
INTRINSIC |
|
low complexity region
|
1312 |
1325 |
N/A |
INTRINSIC |
|
low complexity region
|
1336 |
1357 |
N/A |
INTRINSIC |
|
low complexity region
|
1387 |
1405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152933
|
| Meta Mutation Damage Score |
0.0712 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,139,378 (GRCm39) |
L1470Q |
probably damaging |
Het |
| Abraxas2 |
G |
A |
7: 132,476,584 (GRCm39) |
R105Q |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,414,448 (GRCm39) |
I387T |
probably benign |
Het |
| Cd59b |
G |
A |
2: 103,909,286 (GRCm39) |
|
probably null |
Het |
| Chn2 |
T |
C |
6: 54,267,436 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,924,748 (GRCm39) |
S14G |
possibly damaging |
Het |
| Col5a2 |
A |
G |
1: 45,446,195 (GRCm39) |
I461T |
probably benign |
Het |
| Dele1 |
G |
A |
18: 38,394,317 (GRCm39) |
V505I |
probably benign |
Het |
| Dnlz |
T |
C |
2: 26,241,380 (GRCm39) |
N116S |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,331,330 (GRCm39) |
N736S |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,702,114 (GRCm39) |
T267A |
probably benign |
Het |
| Fam234b |
T |
G |
6: 135,194,072 (GRCm39) |
S242A |
possibly damaging |
Het |
| Gadd45b |
A |
G |
10: 80,766,181 (GRCm39) |
N11S |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,896,816 (GRCm39) |
T608A |
possibly damaging |
Het |
| Gata3 |
T |
C |
2: 9,879,620 (GRCm39) |
T119A |
probably benign |
Het |
| Gm10647 |
A |
G |
9: 66,705,777 (GRCm39) |
|
probably benign |
Het |
| Gm10936 |
G |
A |
10: 117,084,035 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmd |
A |
G |
14: 56,367,161 (GRCm39) |
W244R |
probably damaging |
Het |
| Hdac2 |
T |
A |
10: 36,865,180 (GRCm39) |
D131E |
probably benign |
Het |
| Hira |
T |
A |
16: 18,774,921 (GRCm39) |
F949I |
probably benign |
Het |
| Ighv15-2 |
T |
G |
12: 114,528,657 (GRCm39) |
|
probably benign |
Het |
| Il3 |
A |
G |
11: 54,156,506 (GRCm39) |
|
probably null |
Het |
| Itgae |
A |
C |
11: 73,002,168 (GRCm39) |
M91L |
probably benign |
Het |
| Jkampl |
A |
G |
6: 73,446,402 (GRCm39) |
L49P |
possibly damaging |
Het |
| Kat2b |
A |
G |
17: 53,948,238 (GRCm39) |
E336G |
probably damaging |
Het |
| Kctd21 |
T |
A |
7: 96,997,298 (GRCm39) |
I257N |
probably benign |
Het |
| Kif23 |
C |
G |
9: 61,832,976 (GRCm39) |
|
probably benign |
Het |
| Lgi3 |
A |
T |
14: 70,770,261 (GRCm39) |
I109L |
probably benign |
Het |
| Lhx9 |
A |
T |
1: 138,766,417 (GRCm39) |
C124S |
probably damaging |
Het |
| Lipo4 |
A |
G |
19: 33,479,006 (GRCm39) |
V278A |
probably benign |
Het |
| Lrch3 |
T |
A |
16: 32,782,124 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,486,995 (GRCm39) |
E142G |
probably damaging |
Het |
| Map9 |
G |
A |
3: 82,267,290 (GRCm39) |
|
probably benign |
Het |
| Miox |
C |
T |
15: 89,218,657 (GRCm39) |
|
probably benign |
Het |
| Mndal |
A |
T |
1: 173,685,079 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
G |
T |
6: 122,051,673 (GRCm39) |
V952L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,276,533 (GRCm39) |
T29S |
probably damaging |
Het |
| Or14a260 |
A |
G |
7: 85,984,803 (GRCm39) |
I267T |
probably benign |
Het |
| Or4k5 |
T |
G |
14: 50,386,092 (GRCm39) |
K80Q |
probably damaging |
Het |
| Or8d1b |
A |
G |
9: 38,887,574 (GRCm39) |
I201V |
probably benign |
Het |
| Or8k53 |
T |
C |
2: 86,178,072 (GRCm39) |
I13V |
possibly damaging |
Het |
| Phf3 |
A |
T |
1: 30,844,146 (GRCm39) |
D1604E |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,312,700 (GRCm39) |
R53G |
probably benign |
Het |
| Prickle1 |
A |
G |
15: 93,408,658 (GRCm39) |
L47P |
possibly damaging |
Het |
| Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 79,011,412 (GRCm39) |
S224R |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,015,776 (GRCm39) |
K263E |
probably damaging |
Het |
| Siglecg |
G |
A |
7: 43,060,595 (GRCm39) |
G325D |
probably damaging |
Het |
| Skor2 |
A |
T |
18: 76,946,793 (GRCm39) |
I172F |
unknown |
Het |
| Slc9a1 |
A |
G |
4: 133,147,916 (GRCm39) |
K645E |
probably benign |
Het |
| St14 |
T |
A |
9: 31,019,580 (GRCm39) |
|
probably null |
Het |
| Tas2r120 |
T |
A |
6: 132,634,552 (GRCm39) |
Y211* |
probably null |
Het |
| Tbxa2r |
C |
A |
10: 81,168,734 (GRCm39) |
T141K |
possibly damaging |
Het |
| Tpd52l1 |
A |
G |
10: 31,255,252 (GRCm39) |
S32P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,540,468 (GRCm39) |
R34173W |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,623,474 (GRCm39) |
V15368L |
possibly damaging |
Het |
| Tyms |
A |
G |
5: 30,268,256 (GRCm39) |
I148T |
probably damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,492 (GRCm39) |
Y159* |
probably null |
Het |
| Vmn1r58 |
A |
C |
7: 5,413,865 (GRCm39) |
S122A |
probably benign |
Het |
| Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,887,407 (GRCm39) |
I3272T |
probably benign |
Het |
| Wfdc8 |
A |
G |
2: 164,439,105 (GRCm39) |
Y426H |
probably benign |
Het |
| Zfp948 |
A |
T |
17: 21,807,556 (GRCm39) |
K249N |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,601,847 (GRCm39) |
|
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,061,838 (GRCm39) |
T321I |
probably damaging |
Het |
|
| Other mutations in Arhgap23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Arhgap23
|
APN |
11 |
97,383,497 (GRCm39) |
intron |
probably benign |
|
|
IGL00493:Arhgap23
|
APN |
11 |
97,337,379 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01729:Arhgap23
|
APN |
11 |
97,344,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01805:Arhgap23
|
APN |
11 |
97,383,428 (GRCm39) |
intron |
probably benign |
|
|
IGL02005:Arhgap23
|
APN |
11 |
97,382,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02026:Arhgap23
|
APN |
11 |
97,342,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02135:Arhgap23
|
APN |
11 |
97,342,528 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02178:Arhgap23
|
APN |
11 |
97,343,179 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02226:Arhgap23
|
APN |
11 |
97,342,426 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02309:Arhgap23
|
APN |
11 |
97,356,827 (GRCm39) |
splice site |
probably benign |
|
|
IGL02399:Arhgap23
|
APN |
11 |
97,381,831 (GRCm39) |
intron |
probably benign |
|
|
IGL02630:Arhgap23
|
APN |
11 |
97,345,123 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02724:Arhgap23
|
APN |
11 |
97,382,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02740:Arhgap23
|
APN |
11 |
97,365,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02746:Arhgap23
|
APN |
11 |
97,345,030 (GRCm39) |
splice site |
probably benign |
|
|
IGL02862:Arhgap23
|
APN |
11 |
97,347,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03380:Arhgap23
|
APN |
11 |
97,343,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Arhgap23
|
UTSW |
11 |
97,343,070 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0134:Arhgap23
|
UTSW |
11 |
97,335,154 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0305:Arhgap23
|
UTSW |
11 |
97,391,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0358:Arhgap23
|
UTSW |
11 |
97,354,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Arhgap23
|
UTSW |
11 |
97,354,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:Arhgap23
|
UTSW |
11 |
97,342,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0580:Arhgap23
|
UTSW |
11 |
97,337,362 (GRCm39) |
frame shift |
probably null |
|
|
R0782:Arhgap23
|
UTSW |
11 |
97,391,380 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1216:Arhgap23
|
UTSW |
11 |
97,383,498 (GRCm39) |
intron |
probably benign |
|
|
R1488:Arhgap23
|
UTSW |
11 |
97,391,685 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1785:Arhgap23
|
UTSW |
11 |
97,342,387 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1844:Arhgap23
|
UTSW |
11 |
97,354,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1855:Arhgap23
|
UTSW |
11 |
97,339,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1977:Arhgap23
|
UTSW |
11 |
97,342,273 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2064:Arhgap23
|
UTSW |
11 |
97,383,888 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2130:Arhgap23
|
UTSW |
11 |
97,342,387 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2431:Arhgap23
|
UTSW |
11 |
97,343,230 (GRCm39) |
missense |
probably benign |
|
|
R2853:Arhgap23
|
UTSW |
11 |
97,383,420 (GRCm39) |
splice site |
probably null |
|
|
R3767:Arhgap23
|
UTSW |
11 |
97,366,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Arhgap23
|
UTSW |
11 |
97,366,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Arhgap23
|
UTSW |
11 |
97,366,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Arhgap23
|
UTSW |
11 |
97,366,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4209:Arhgap23
|
UTSW |
11 |
97,345,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4247:Arhgap23
|
UTSW |
11 |
97,354,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Arhgap23
|
UTSW |
11 |
97,342,846 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5399:Arhgap23
|
UTSW |
11 |
97,391,743 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5549:Arhgap23
|
UTSW |
11 |
97,357,394 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5655:Arhgap23
|
UTSW |
11 |
97,343,372 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5857:Arhgap23
|
UTSW |
11 |
97,342,405 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6013:Arhgap23
|
UTSW |
11 |
97,391,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6031:Arhgap23
|
UTSW |
11 |
97,366,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Arhgap23
|
UTSW |
11 |
97,366,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6077:Arhgap23
|
UTSW |
11 |
97,382,058 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6151:Arhgap23
|
UTSW |
11 |
97,391,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6393:Arhgap23
|
UTSW |
11 |
97,354,498 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6693:Arhgap23
|
UTSW |
11 |
97,357,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6752:Arhgap23
|
UTSW |
11 |
97,343,074 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7202:Arhgap23
|
UTSW |
11 |
97,342,819 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7209:Arhgap23
|
UTSW |
11 |
97,383,273 (GRCm39) |
splice site |
probably null |
|
|
R7209:Arhgap23
|
UTSW |
11 |
97,366,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7320:Arhgap23
|
UTSW |
11 |
97,342,371 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7345:Arhgap23
|
UTSW |
11 |
97,357,304 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7599:Arhgap23
|
UTSW |
11 |
97,391,169 (GRCm39) |
missense |
probably benign |
|
|
R8229:Arhgap23
|
UTSW |
11 |
97,344,732 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8332:Arhgap23
|
UTSW |
11 |
97,381,960 (GRCm39) |
missense |
unknown |
|
|
R8412:Arhgap23
|
UTSW |
11 |
97,356,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8460:Arhgap23
|
UTSW |
11 |
97,343,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Arhgap23
|
UTSW |
11 |
97,365,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8525:Arhgap23
|
UTSW |
11 |
97,380,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Arhgap23
|
UTSW |
11 |
97,345,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8708:Arhgap23
|
UTSW |
11 |
97,343,238 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8749:Arhgap23
|
UTSW |
11 |
97,391,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8882:Arhgap23
|
UTSW |
11 |
97,355,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9188:Arhgap23
|
UTSW |
11 |
97,390,983 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
RF020:Arhgap23
|
UTSW |
11 |
97,354,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V8831:Arhgap23
|
UTSW |
11 |
97,347,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGAGGAGAGAGGCTTTCTGC -3'
(R):5'- ACAGTCACAGAGCAAGTGTCCCAG -3'
Sequencing Primer
(F):5'- GTGGACCACACACTCTCTG -3'
(R):5'- TGGCACAGCCTCCTTACAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation