Incidental Mutation 'R1977:Arhgap23'
ID |
221896 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap23
|
Ensembl Gene |
ENSMUSG00000049807 |
Gene Name |
Rho GTPase activating protein 23 |
Synonyms |
|
MMRRC Submission |
039990-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1977 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
97306359-97393228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 97342273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 185
(R185L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112999
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107601]
[ENSMUST00000121799]
[ENSMUST00000142465]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107601
|
SMART Domains |
Protein: ENSMUSP00000103227 Gene: ENSMUSG00000049807
Domain | Start | End | E-Value | Type |
low complexity region
|
246 |
258 |
N/A |
INTRINSIC |
low complexity region
|
354 |
369 |
N/A |
INTRINSIC |
low complexity region
|
426 |
443 |
N/A |
INTRINSIC |
PH
|
479 |
600 |
3.2e-12 |
SMART |
low complexity region
|
679 |
687 |
N/A |
INTRINSIC |
RhoGAP
|
707 |
884 |
6.83e-65 |
SMART |
low complexity region
|
1051 |
1066 |
N/A |
INTRINSIC |
low complexity region
|
1101 |
1114 |
N/A |
INTRINSIC |
low complexity region
|
1125 |
1146 |
N/A |
INTRINSIC |
low complexity region
|
1176 |
1194 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121799
AA Change: R185L
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112999 Gene: ENSMUSG00000049807 AA Change: R185L
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 |
probably benign
Transcript: ENSMUST00000142465
|
SMART Domains |
Protein: ENSMUSP00000123191 Gene: ENSMUSG00000049807
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
low complexity region
|
126 |
143 |
N/A |
INTRINSIC |
PH
|
179 |
300 |
3.2e-12 |
SMART |
low complexity region
|
379 |
387 |
N/A |
INTRINSIC |
RhoGAP
|
407 |
584 |
6.83e-65 |
SMART |
|
Meta Mutation Damage Score |
0.0754 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
99% (66/67) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
G |
T |
8: 123,508,272 (GRCm39) |
C256F |
probably damaging |
Het |
Adgra2 |
T |
A |
8: 27,605,789 (GRCm39) |
V647D |
possibly damaging |
Het |
AI593442 |
A |
T |
9: 52,589,492 (GRCm39) |
S28R |
probably damaging |
Het |
Akr1c21 |
G |
C |
13: 4,624,211 (GRCm39) |
G22R |
probably damaging |
Het |
Ampd3 |
T |
C |
7: 110,402,369 (GRCm39) |
W458R |
probably damaging |
Het |
Arhgap45 |
A |
T |
10: 79,856,652 (GRCm39) |
I67F |
probably damaging |
Het |
Asah1 |
A |
G |
8: 41,796,554 (GRCm39) |
|
probably null |
Het |
Atl2 |
A |
G |
17: 80,160,019 (GRCm39) |
Y56H |
probably damaging |
Het |
Carf |
A |
T |
1: 60,185,295 (GRCm39) |
I447F |
probably damaging |
Het |
Crmp1 |
A |
G |
5: 37,433,627 (GRCm39) |
N162S |
probably damaging |
Het |
Cyp2a5 |
A |
G |
7: 26,535,347 (GRCm39) |
E103G |
probably benign |
Het |
Cyp2c40 |
T |
C |
19: 39,766,485 (GRCm39) |
D370G |
probably damaging |
Het |
Dhrs2 |
T |
A |
14: 55,472,112 (GRCm39) |
M1K |
probably null |
Het |
Dnah17 |
T |
C |
11: 118,003,417 (GRCm39) |
E810G |
possibly damaging |
Het |
E2f5 |
T |
A |
3: 14,652,416 (GRCm39) |
I84N |
probably damaging |
Het |
Eif2ak4 |
A |
T |
2: 118,292,238 (GRCm39) |
K1185* |
probably null |
Het |
Eif4ebp1 |
T |
A |
8: 27,765,129 (GRCm39) |
M115K |
probably damaging |
Het |
Evi5 |
A |
T |
5: 107,947,005 (GRCm39) |
L505* |
probably null |
Het |
Fbxw25 |
T |
A |
9: 109,481,924 (GRCm39) |
Y254F |
possibly damaging |
Het |
Gm7964 |
T |
A |
7: 83,406,560 (GRCm39) |
F439Y |
possibly damaging |
Het |
Gps1 |
A |
G |
11: 120,676,652 (GRCm39) |
T124A |
probably damaging |
Het |
Hopx |
T |
C |
5: 77,265,463 (GRCm39) |
|
probably benign |
Het |
Hoxd3 |
A |
G |
2: 74,574,620 (GRCm39) |
S89G |
possibly damaging |
Het |
Hrc |
A |
T |
7: 44,985,638 (GRCm39) |
D263V |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 119,375,888 (GRCm39) |
I21T |
probably benign |
Het |
Izumo4 |
A |
G |
10: 80,538,955 (GRCm39) |
Y106C |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,866,796 (GRCm39) |
|
probably null |
Het |
Lcorl |
A |
C |
5: 45,932,762 (GRCm39) |
S123R |
probably null |
Het |
Lgr4 |
A |
T |
2: 109,842,273 (GRCm39) |
I729F |
probably damaging |
Het |
Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
Matn3 |
T |
A |
12: 9,011,110 (GRCm39) |
|
probably benign |
Het |
Mdc1 |
T |
A |
17: 36,161,822 (GRCm39) |
S912T |
probably benign |
Het |
Mgam |
G |
A |
6: 40,641,814 (GRCm39) |
V556I |
probably benign |
Het |
Myom2 |
A |
T |
8: 15,135,263 (GRCm39) |
I489F |
possibly damaging |
Het |
Nfatc2 |
G |
A |
2: 168,346,379 (GRCm39) |
T905I |
possibly damaging |
Het |
Nme6 |
G |
A |
9: 109,664,409 (GRCm39) |
R6Q |
probably damaging |
Het |
Nr1h5 |
A |
G |
3: 102,855,133 (GRCm39) |
S323P |
probably damaging |
Het |
Nr4a3 |
C |
A |
4: 48,056,539 (GRCm39) |
R364S |
probably damaging |
Het |
Obox7 |
A |
T |
7: 14,398,323 (GRCm39) |
D79V |
probably damaging |
Het |
Or1ab2 |
G |
A |
8: 72,863,698 (GRCm39) |
G96D |
probably benign |
Het |
Or2a51 |
T |
A |
6: 43,178,914 (GRCm39) |
V112D |
possibly damaging |
Het |
Or2l5 |
G |
A |
16: 19,333,586 (GRCm39) |
P267S |
probably damaging |
Het |
Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
Parp8 |
T |
A |
13: 117,047,449 (GRCm39) |
I208F |
probably damaging |
Het |
Pdgfc |
C |
T |
3: 81,116,552 (GRCm39) |
T302I |
probably damaging |
Het |
Pnpt1 |
A |
G |
11: 29,091,256 (GRCm39) |
I337V |
probably benign |
Het |
Polk |
T |
C |
13: 96,625,736 (GRCm39) |
E436G |
probably damaging |
Het |
Pramel7 |
A |
G |
2: 87,321,465 (GRCm39) |
V190A |
probably benign |
Het |
Rplp2 |
T |
C |
7: 141,028,694 (GRCm39) |
|
probably benign |
Het |
Sec23ip |
T |
A |
7: 128,367,997 (GRCm39) |
S670T |
probably damaging |
Het |
Sgk2 |
A |
G |
2: 162,846,080 (GRCm39) |
N207S |
probably benign |
Het |
Sh2d2a |
C |
T |
3: 87,759,123 (GRCm39) |
Q242* |
probably null |
Het |
Sh3pxd2b |
A |
C |
11: 32,372,138 (GRCm39) |
N435T |
probably damaging |
Het |
Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
Stx17 |
G |
A |
4: 48,181,553 (GRCm39) |
V241M |
probably benign |
Het |
Taok3 |
A |
T |
5: 117,403,989 (GRCm39) |
K721N |
probably damaging |
Het |
Tbxas1 |
A |
G |
6: 38,925,575 (GRCm39) |
|
probably benign |
Het |
Tmem87a |
G |
A |
2: 120,204,985 (GRCm39) |
A377V |
probably benign |
Het |
Topaz1 |
C |
T |
9: 122,576,427 (GRCm39) |
T6M |
unknown |
Het |
Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
Vmn2r125 |
A |
G |
4: 156,707,162 (GRCm39) |
|
probably null |
Het |
Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
Wdr59 |
A |
T |
8: 112,185,270 (GRCm39) |
C888S |
probably benign |
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 |
R0225: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 |
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'- GGATGCCCCTACTTAATCAGCTC -3'
(R):5'- TTGGACAGCCAGTGTGACAG -3'
Sequencing Primer
(F):5'- CCCTTGCATTTCCTTGTGAGAAC -3'
(R):5'- TCCCCAAGGAAGAGTTGTCCAG -3'
|
Posted On |
2014-08-25 |