Incidental Mutation 'R0111:Arhgap5'
| ID |
20468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap5
|
| Ensembl Gene |
ENSMUSG00000035133 |
| Gene Name |
Rho GTPase activating protein 5 |
| Synonyms |
p190B, p190-B |
| MMRRC Submission |
038397-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0111 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
52550755-52618758 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 52606743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110725]
[ENSMUST00000217820]
[ENSMUST00000219443]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110725
|
| SMART Domains |
Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
142 |
248 |
5.3e-7 |
PFAM |
|
FF
|
269 |
325 |
6.03e-12 |
SMART |
|
FF
|
367 |
420 |
4.61e-8 |
SMART |
|
FF
|
427 |
482 |
2.22e-10 |
SMART |
|
FF
|
483 |
537 |
3.89e-6 |
SMART |
|
low complexity region
|
1035 |
1053 |
N/A |
INTRINSIC |
|
low complexity region
|
1224 |
1247 |
N/A |
INTRINSIC |
|
RhoGAP
|
1273 |
1447 |
1.03e-73 |
SMART |
|
low complexity region
|
1479 |
1496 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218869
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219443
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.8%
|
| Validation Efficiency |
100% (65/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes die at birth, are 30% smaller, do not inflate their lungs, and show a small thymus, abnormal adipocyte differentiation and brain defects in the corpus callosum, anterior commissure and lateral ventricles. Mutant MEFs show impaired adipogenesis but undergo myogenesis in response to IGF-1. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(1) Gene trapped(3)
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
T |
17: 56,124,073 (GRCm39) |
H491L |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,761,738 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
T |
C |
15: 99,594,864 (GRCm39) |
Y334H |
probably damaging |
Het |
| Calcr |
T |
A |
6: 3,717,157 (GRCm39) |
D101V |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,907,566 (GRCm39) |
N57K |
probably benign |
Het |
| Clec4d |
C |
A |
6: 123,245,006 (GRCm39) |
Y95* |
probably null |
Het |
| Cracr2a |
A |
G |
6: 127,581,024 (GRCm39) |
T67A |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,533,961 (GRCm39) |
V53D |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,507,843 (GRCm39) |
D3076G |
probably benign |
Het |
| Espnl |
T |
C |
1: 91,272,464 (GRCm39) |
M608T |
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,794,183 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
C |
6: 29,454,339 (GRCm39) |
V1884A |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,879,595 (GRCm39) |
S674R |
probably benign |
Het |
| Hoxa2 |
T |
G |
6: 52,141,467 (GRCm39) |
|
probably null |
Het |
| Ifi47 |
T |
A |
11: 48,986,897 (GRCm39) |
N221K |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,333,662 (GRCm39) |
V340A |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,851,960 (GRCm39) |
N373K |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,129,771 (GRCm39) |
|
probably benign |
Het |
| Kiss1r |
A |
G |
10: 79,754,523 (GRCm39) |
T6A |
possibly damaging |
Het |
| Lama1 |
A |
T |
17: 68,044,493 (GRCm39) |
I131F |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,361,991 (GRCm39) |
D91G |
probably benign |
Het |
| Nos3 |
C |
T |
5: 24,577,702 (GRCm39) |
T572I |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,046,077 (GRCm39) |
F1710L |
probably benign |
Het |
| Or13e8 |
T |
C |
4: 43,696,648 (GRCm39) |
N175S |
probably damaging |
Het |
| Or6c6c |
T |
A |
10: 129,541,146 (GRCm39) |
I133N |
probably damaging |
Het |
| Ostm1 |
T |
C |
10: 42,555,254 (GRCm39) |
L92P |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,462,651 (GRCm39) |
Y1445* |
probably null |
Het |
| Pde1b |
T |
C |
15: 103,411,940 (GRCm39) |
S14P |
probably benign |
Het |
| Pitpna |
T |
C |
11: 75,516,310 (GRCm39) |
V265A |
probably benign |
Het |
| Plec |
G |
T |
15: 76,062,846 (GRCm39) |
T2476K |
probably damaging |
Het |
| Pold2 |
A |
G |
11: 5,826,760 (GRCm39) |
L58P |
probably damaging |
Het |
| Ppp3cc |
C |
T |
14: 70,493,808 (GRCm39) |
|
probably null |
Het |
| Prss36 |
A |
G |
7: 127,533,717 (GRCm39) |
L530P |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,728,629 (GRCm39) |
|
probably benign |
Het |
| Ptpn23 |
T |
C |
9: 110,214,691 (GRCm39) |
D1570G |
probably damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,676 (GRCm39) |
D182G |
possibly damaging |
Het |
| Rbm27 |
T |
A |
18: 42,438,737 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,414,983 (GRCm39) |
E2043G |
probably damaging |
Het |
| Rufy3 |
C |
T |
5: 88,778,443 (GRCm39) |
S341F |
probably damaging |
Het |
| Samd9l |
C |
T |
6: 3,374,946 (GRCm39) |
V772I |
possibly damaging |
Het |
| Scaper |
A |
G |
9: 55,510,074 (GRCm39) |
M654T |
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,989,686 (GRCm39) |
K407E |
probably damaging |
Het |
| Sipa1l3 |
G |
A |
7: 29,047,743 (GRCm39) |
P333S |
probably damaging |
Het |
| Slc30a10 |
C |
A |
1: 185,187,744 (GRCm39) |
R162S |
probably benign |
Het |
| Spryd3 |
A |
T |
15: 102,036,972 (GRCm39) |
|
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,166 (GRCm39) |
F66L |
probably benign |
Het |
| Tent5c |
T |
C |
3: 100,380,102 (GRCm39) |
D218G |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,208,532 (GRCm39) |
N196S |
probably benign |
Het |
| Themis2 |
C |
A |
4: 132,517,236 (GRCm39) |
R88L |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,736,854 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,528,437 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,892,624 (GRCm39) |
H64Q |
probably damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,435,022 (GRCm39) |
R561G |
possibly damaging |
Het |
| Vsig10l |
A |
G |
7: 43,117,525 (GRCm39) |
D604G |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,067,418 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,338,722 (GRCm39) |
N321I |
probably damaging |
Het |
| Zfp595 |
A |
G |
13: 67,468,984 (GRCm39) |
F11S |
possibly damaging |
Het |
| Zfp953 |
T |
A |
13: 67,491,139 (GRCm39) |
H271L |
probably damaging |
Het |
|
| Other mutations in Arhgap5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00679:Arhgap5
|
APN |
12 |
52,564,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00823:Arhgap5
|
APN |
12 |
52,565,525 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01161:Arhgap5
|
APN |
12 |
52,563,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01360:Arhgap5
|
APN |
12 |
52,565,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01910:Arhgap5
|
APN |
12 |
52,563,644 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02417:Arhgap5
|
APN |
12 |
52,565,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02448:Arhgap5
|
APN |
12 |
52,609,123 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02813:Arhgap5
|
APN |
12 |
52,563,748 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03398:Arhgap5
|
APN |
12 |
52,564,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Decline
|
UTSW |
12 |
52,563,365 (GRCm39) |
nonsense |
probably null |
|
|
Pass
|
UTSW |
12 |
52,563,290 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
3-1:Arhgap5
|
UTSW |
12 |
52,565,665 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0039:Arhgap5
|
UTSW |
12 |
52,565,518 (GRCm39) |
nonsense |
probably null |
|
|
R0088:Arhgap5
|
UTSW |
12 |
52,563,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0104:Arhgap5
|
UTSW |
12 |
52,563,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0356:Arhgap5
|
UTSW |
12 |
52,563,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0616:Arhgap5
|
UTSW |
12 |
52,563,848 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0707:Arhgap5
|
UTSW |
12 |
52,564,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:Arhgap5
|
UTSW |
12 |
52,563,290 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0849:Arhgap5
|
UTSW |
12 |
52,566,406 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0975:Arhgap5
|
UTSW |
12 |
52,563,927 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1326:Arhgap5
|
UTSW |
12 |
52,565,153 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1421:Arhgap5
|
UTSW |
12 |
52,563,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Arhgap5
|
UTSW |
12 |
52,566,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1625:Arhgap5
|
UTSW |
12 |
52,564,159 (GRCm39) |
missense |
probably benign |
|
|
R1711:Arhgap5
|
UTSW |
12 |
52,566,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Arhgap5
|
UTSW |
12 |
52,589,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Arhgap5
|
UTSW |
12 |
52,564,817 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2356:Arhgap5
|
UTSW |
12 |
52,565,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3792:Arhgap5
|
UTSW |
12 |
52,566,671 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3808:Arhgap5
|
UTSW |
12 |
52,613,970 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4458:Arhgap5
|
UTSW |
12 |
52,564,740 (GRCm39) |
missense |
probably benign |
|
|
R4703:Arhgap5
|
UTSW |
12 |
52,564,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4736:Arhgap5
|
UTSW |
12 |
52,565,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4737:Arhgap5
|
UTSW |
12 |
52,565,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4740:Arhgap5
|
UTSW |
12 |
52,565,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4768:Arhgap5
|
UTSW |
12 |
52,604,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Arhgap5
|
UTSW |
12 |
52,565,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4817:Arhgap5
|
UTSW |
12 |
52,565,992 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5586:Arhgap5
|
UTSW |
12 |
52,566,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5681:Arhgap5
|
UTSW |
12 |
52,566,562 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5683:Arhgap5
|
UTSW |
12 |
52,566,369 (GRCm39) |
missense |
probably benign |
|
|
R5911:Arhgap5
|
UTSW |
12 |
52,565,525 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6448:Arhgap5
|
UTSW |
12 |
52,564,446 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6887:Arhgap5
|
UTSW |
12 |
52,565,927 (GRCm39) |
missense |
probably benign |
|
|
R6988:Arhgap5
|
UTSW |
12 |
52,564,908 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7009:Arhgap5
|
UTSW |
12 |
52,566,422 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7013:Arhgap5
|
UTSW |
12 |
52,565,109 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7239:Arhgap5
|
UTSW |
12 |
52,564,159 (GRCm39) |
missense |
probably benign |
|
|
R7310:Arhgap5
|
UTSW |
12 |
52,589,270 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7339:Arhgap5
|
UTSW |
12 |
52,564,481 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7375:Arhgap5
|
UTSW |
12 |
52,563,365 (GRCm39) |
nonsense |
probably null |
|
|
R7421:Arhgap5
|
UTSW |
12 |
52,564,783 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7442:Arhgap5
|
UTSW |
12 |
52,563,739 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7842:Arhgap5
|
UTSW |
12 |
52,565,480 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8079:Arhgap5
|
UTSW |
12 |
52,613,988 (GRCm39) |
missense |
probably benign |
|
|
R8241:Arhgap5
|
UTSW |
12 |
52,565,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8419:Arhgap5
|
UTSW |
12 |
52,565,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Arhgap5
|
UTSW |
12 |
52,609,146 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0018:Arhgap5
|
UTSW |
12 |
52,565,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Arhgap5
|
UTSW |
12 |
52,565,246 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATGCTTTCTGCATGGGGTTGTC -3'
(R):5'- GGGAAACCAGACCTGTCTTGGAAC -3'
Sequencing Primer
(F):5'- GCATGGGGTTGTCTCTTCC -3'
(R):5'- GCCCCTCATTATCTGTGAGAGTAG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation