Incidental Mutation 'R7375:Arhgap5'
ID |
572346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap5
|
Ensembl Gene |
ENSMUSG00000035133 |
Gene Name |
Rho GTPase activating protein 5 |
Synonyms |
p190B, p190-B |
MMRRC Submission |
045458-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7375 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
52550755-52618758 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 52563365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 112
(L112*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106353
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110725]
[ENSMUST00000217820]
[ENSMUST00000219443]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000110725
AA Change: L112*
|
SMART Domains |
Protein: ENSMUSP00000106353 Gene: ENSMUSG00000035133 AA Change: L112*
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 |
probably null
Transcript: ENSMUST00000219443
AA Change: L112*
|
Meta Mutation Damage Score |
0.9754 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (59/59) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
G |
5: 8,968,671 (GRCm39) |
I337V |
probably benign |
Het |
Abl2 |
A |
G |
1: 156,450,184 (GRCm39) |
D117G |
probably damaging |
Het |
Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
Ccdc168 |
A |
T |
1: 44,099,694 (GRCm39) |
I468N |
possibly damaging |
Het |
Cfap91 |
T |
A |
16: 38,155,980 (GRCm39) |
H81L |
probably damaging |
Het |
Cmya5 |
T |
G |
13: 93,228,169 (GRCm39) |
K2306N |
probably damaging |
Het |
Col16a1 |
A |
C |
4: 129,959,294 (GRCm39) |
K680T |
unknown |
Het |
Col28a1 |
T |
A |
6: 7,998,499 (GRCm39) |
T1137S |
possibly damaging |
Het |
Crnn |
A |
T |
3: 93,056,452 (GRCm39) |
T413S |
possibly damaging |
Het |
Csf1 |
A |
G |
3: 107,655,495 (GRCm39) |
L512P |
possibly damaging |
Het |
Dlx3 |
C |
A |
11: 95,011,461 (GRCm39) |
A105D |
possibly damaging |
Het |
Dnah3 |
T |
G |
7: 119,550,900 (GRCm39) |
T161P |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,342,794 (GRCm39) |
D3435G |
probably damaging |
Het |
Dpp10 |
A |
G |
1: 123,295,524 (GRCm39) |
I541T |
probably benign |
Het |
Efcc1 |
T |
C |
6: 87,728,838 (GRCm39) |
V431A |
possibly damaging |
Het |
Enpp5 |
T |
C |
17: 44,391,868 (GRCm39) |
I99T |
probably benign |
Het |
Gm11232 |
C |
T |
4: 71,675,583 (GRCm39) |
W59* |
probably null |
Het |
Gxylt2 |
A |
T |
6: 100,727,383 (GRCm39) |
T166S |
probably benign |
Het |
Herc6 |
A |
T |
6: 57,628,791 (GRCm39) |
|
probably null |
Het |
Itga2 |
T |
C |
13: 115,005,753 (GRCm39) |
I476V |
probably benign |
Het |
Kcnq5 |
T |
C |
1: 21,539,710 (GRCm39) |
T403A |
possibly damaging |
Het |
Klhl42 |
A |
G |
6: 146,993,538 (GRCm39) |
K170R |
probably benign |
Het |
Klk13 |
T |
C |
7: 43,370,582 (GRCm39) |
|
probably null |
Het |
Krt32 |
G |
T |
11: 99,972,050 (GRCm39) |
R433S |
probably benign |
Het |
Lrp1 |
G |
T |
10: 127,375,217 (GRCm39) |
T4461N |
probably damaging |
Het |
Mapk10 |
A |
T |
5: 103,124,256 (GRCm39) |
M256K |
probably null |
Het |
Mogat2 |
T |
C |
7: 98,872,905 (GRCm39) |
K93R |
probably damaging |
Het |
Myh1 |
G |
T |
11: 67,101,254 (GRCm39) |
V677L |
probably damaging |
Het |
Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
Oog4 |
G |
A |
4: 143,165,544 (GRCm39) |
T201M |
possibly damaging |
Het |
Or4a70 |
C |
T |
2: 89,324,036 (GRCm39) |
G207R |
possibly damaging |
Het |
Pik3c2a |
T |
C |
7: 115,975,621 (GRCm39) |
T649A |
probably damaging |
Het |
Plec |
T |
A |
15: 76,061,555 (GRCm39) |
H2794L |
possibly damaging |
Het |
Pros1 |
T |
A |
16: 62,744,913 (GRCm39) |
N509K |
probably damaging |
Het |
Psme3ip1 |
G |
A |
8: 95,309,636 (GRCm39) |
L119F |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,722,700 (GRCm39) |
|
probably null |
Het |
Ptprf |
A |
G |
4: 118,070,011 (GRCm39) |
V1457A |
probably benign |
Het |
Rad50 |
A |
G |
11: 53,543,055 (GRCm39) |
|
probably null |
Het |
Rfx5 |
C |
T |
3: 94,866,053 (GRCm39) |
P451S |
unknown |
Het |
Scpppq1 |
G |
T |
5: 104,219,123 (GRCm39) |
|
probably null |
Het |
Sdk1 |
G |
T |
5: 141,984,598 (GRCm39) |
V728L |
probably benign |
Het |
Sfxn4 |
T |
C |
19: 60,847,112 (GRCm39) |
D57G |
probably benign |
Het |
Slc10a4 |
A |
G |
5: 73,169,650 (GRCm39) |
D425G |
probably benign |
Het |
Slc17a5 |
C |
T |
9: 78,495,174 (GRCm39) |
A26T |
probably benign |
Het |
Slc22a26 |
A |
T |
19: 7,760,509 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
A |
G |
19: 8,382,055 (GRCm39) |
L72P |
probably damaging |
Het |
Slco6c1 |
T |
C |
1: 97,009,146 (GRCm39) |
T447A |
possibly damaging |
Het |
Slco6d1 |
A |
G |
1: 98,349,172 (GRCm39) |
N81S |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,495,483 (GRCm39) |
|
probably null |
Het |
Tecpr1 |
T |
C |
5: 144,145,417 (GRCm39) |
E610G |
possibly damaging |
Het |
Tmem81 |
G |
T |
1: 132,435,301 (GRCm39) |
V36L |
possibly damaging |
Het |
Trabd2b |
G |
T |
4: 114,467,194 (GRCm39) |
K474N |
probably benign |
Het |
Tspan33 |
T |
C |
6: 29,713,519 (GRCm39) |
F149L |
probably benign |
Het |
Ttn |
A |
G |
2: 76,606,683 (GRCm39) |
Y18076H |
probably damaging |
Het |
Utrn |
G |
A |
10: 12,516,764 (GRCm39) |
R2277C |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,831,652 (GRCm39) |
D549E |
probably damaging |
Het |
Vmn2r107 |
T |
A |
17: 20,576,138 (GRCm39) |
I156K |
probably benign |
Het |
Wwc2 |
T |
G |
8: 48,316,955 (GRCm39) |
S713R |
unknown |
Het |
Xndc1 |
C |
A |
7: 101,730,687 (GRCm39) |
|
probably null |
Het |
Zfp810 |
A |
G |
9: 22,201,833 (GRCm39) |
|
probably null |
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 |
R0111:Arhgap5
|
UTSW |
12 |
52,606,743 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- TGCTTAGCACCATTGACTTTGG -3'
(R):5'- GTTGCTGCTATTATCACAGGC -3'
Sequencing Primer
(F):5'- ACCATTGACTTTGGAGGCC -3'
(R):5'- AGCTGGACAAAAAGGTTATTCAC -3'
|
Posted On |
2019-09-13 |