Incidental Mutation 'R8419:Arhgap5'
ID |
653108 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap5
|
Ensembl Gene |
ENSMUSG00000035133 |
Gene Name |
Rho GTPase activating protein 5 |
Synonyms |
p190B, p190-B |
MMRRC Submission |
067772-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8419 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
52550755-52618758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 52565572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 848
(V848I)
|
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 damaging
Transcript: ENSMUST00000110725
AA Change: V848I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106353 Gene: ENSMUSG00000035133 AA Change: V848I
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 damaging
Transcript: ENSMUST00000219443
AA Change: V848I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
A |
T |
11: 48,910,312 (GRCm39) |
I707N |
probably damaging |
Het |
Abca14 |
A |
G |
7: 119,815,489 (GRCm39) |
I246V |
probably benign |
Het |
Adam19 |
G |
A |
11: 46,015,850 (GRCm39) |
A337T |
possibly damaging |
Het |
Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
Bmpr2 |
G |
A |
1: 59,906,515 (GRCm39) |
R536H |
probably damaging |
Het |
Casz1 |
T |
A |
4: 149,033,040 (GRCm39) |
S1310T |
probably benign |
Het |
Chi3l1 |
A |
T |
1: 134,117,280 (GRCm39) |
D367V |
probably damaging |
Het |
Cltc |
A |
G |
11: 86,598,392 (GRCm39) |
V990A |
probably benign |
Het |
Col6a3 |
A |
T |
1: 90,729,935 (GRCm39) |
S1790R |
probably damaging |
Het |
Comt |
C |
T |
16: 18,230,637 (GRCm39) |
W24* |
probably null |
Het |
Cyp2c70 |
T |
C |
19: 40,149,024 (GRCm39) |
E374G |
possibly damaging |
Het |
Dach1 |
T |
C |
14: 98,406,076 (GRCm39) |
T224A |
probably damaging |
Het |
Dapk1 |
G |
A |
13: 60,887,911 (GRCm39) |
E656K |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,668,936 (GRCm39) |
S1249P |
probably benign |
Het |
Dpp8 |
A |
C |
9: 64,988,037 (GRCm39) |
I861L |
probably benign |
Het |
Enam |
C |
T |
5: 88,651,209 (GRCm39) |
S906L |
possibly damaging |
Het |
Eral1 |
A |
T |
11: 77,964,906 (GRCm39) |
I429N |
possibly damaging |
Het |
Fbxo10 |
C |
A |
4: 45,041,809 (GRCm39) |
G807C |
possibly damaging |
Het |
Fcgbpl1 |
G |
T |
7: 27,843,346 (GRCm39) |
G745C |
probably damaging |
Het |
Fsip2 |
G |
C |
2: 82,808,963 (GRCm39) |
E1761Q |
probably damaging |
Het |
Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
Gm4353 |
G |
A |
7: 115,682,784 (GRCm39) |
P266S |
probably benign |
Het |
Gpr84 |
T |
C |
15: 103,217,963 (GRCm39) |
N38S |
probably damaging |
Het |
Guca1a |
A |
T |
17: 47,706,480 (GRCm39) |
I115N |
probably damaging |
Het |
Hic1 |
C |
T |
11: 75,057,096 (GRCm39) |
V598M |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,143,604 (GRCm39) |
I309N |
probably damaging |
Het |
Itga11 |
T |
C |
9: 62,662,460 (GRCm39) |
S478P |
possibly damaging |
Het |
Kctd8 |
T |
C |
5: 69,497,713 (GRCm39) |
D311G |
probably damaging |
Het |
Klhl32 |
T |
C |
4: 24,682,203 (GRCm39) |
E127G |
possibly damaging |
Het |
Lama2 |
T |
A |
10: 27,298,559 (GRCm39) |
Y179F |
probably benign |
Het |
Lamb2 |
G |
T |
9: 108,365,563 (GRCm39) |
R1382L |
probably benign |
Het |
Mrpl1 |
C |
G |
5: 96,374,226 (GRCm39) |
A167G |
probably benign |
Het |
Muc17 |
A |
T |
5: 137,175,570 (GRCm39) |
N33K |
|
Het |
Myt1 |
A |
T |
2: 181,424,399 (GRCm39) |
R31* |
probably null |
Het |
Nectin2 |
T |
C |
7: 19,451,646 (GRCm39) |
T463A |
probably benign |
Het |
Nectin2 |
A |
T |
7: 19,472,003 (GRCm39) |
Y129N |
probably damaging |
Het |
Or12d13 |
A |
G |
17: 37,647,466 (GRCm39) |
I219T |
possibly damaging |
Het |
Or4k47 |
A |
T |
2: 111,451,849 (GRCm39) |
M190K |
probably benign |
Het |
Papolb |
T |
A |
5: 142,514,296 (GRCm39) |
N449I |
possibly damaging |
Het |
Parn |
T |
C |
16: 13,466,338 (GRCm39) |
K236R |
probably benign |
Het |
Pramel22 |
A |
G |
4: 143,382,997 (GRCm39) |
I74T |
probably damaging |
Het |
Prelid1 |
G |
A |
13: 55,470,698 (GRCm39) |
R42Q |
probably damaging |
Het |
Prelp |
A |
G |
1: 133,843,020 (GRCm39) |
F42L |
probably benign |
Het |
Pygo1 |
C |
T |
9: 72,852,380 (GRCm39) |
P189L |
probably damaging |
Het |
Rimbp3 |
T |
A |
16: 17,030,886 (GRCm39) |
S1437T |
probably damaging |
Het |
Slc37a2 |
T |
A |
9: 37,148,726 (GRCm39) |
D252V |
probably benign |
Het |
Socs7 |
A |
G |
11: 97,254,165 (GRCm39) |
K233R |
probably benign |
Het |
Spopfm2 |
T |
C |
3: 94,082,921 (GRCm39) |
I297V |
probably benign |
Het |
Stat4 |
A |
G |
1: 52,137,637 (GRCm39) |
D476G |
possibly damaging |
Het |
Tesmin |
A |
G |
19: 3,439,077 (GRCm39) |
D43G |
probably benign |
Het |
Thap1 |
C |
A |
8: 26,648,502 (GRCm39) |
Y8* |
probably null |
Het |
Tln1 |
A |
G |
4: 43,536,397 (GRCm39) |
L1965P |
probably damaging |
Het |
Tmprss11d |
A |
G |
5: 86,457,165 (GRCm39) |
S303P |
probably damaging |
Het |
Tomm40 |
C |
T |
7: 19,435,759 (GRCm39) |
V324M |
probably damaging |
Het |
Vmn1r202 |
A |
T |
13: 22,685,985 (GRCm39) |
I144K |
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 |
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 |
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 |
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'- GAAGCTGACTTGAGAATTGTCATG -3'
(R):5'- AGTTGCAATGTGTTCTCCTTCAG -3'
Sequencing Primer
(F):5'- CCATGTGTGGCGATCCATTTAG -3'
(R):5'- TCAGTCATTAACTCCTTGATAGCC -3'
|
Posted On |
2020-10-20 |