Incidental Mutation 'R2356:Arhgap5'
ID |
246956 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap5
|
Ensembl Gene |
ENSMUSG00000035133 |
Gene Name |
Rho GTPase activating protein 5 |
Synonyms |
p190B, p190-B |
MMRRC Submission |
040338-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2356 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
52550755-52618758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 52565930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 967
(P967L)
|
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
AA Change: P967L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000106353 Gene: ENSMUSG00000035133 AA Change: P967L
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: ENSMUST00000218755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218869
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219443
AA Change: P967L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
G |
T |
16: 20,379,249 (GRCm39) |
R705L |
probably benign |
Het |
Adcy6 |
A |
T |
15: 98,494,897 (GRCm39) |
|
probably null |
Het |
Ank1 |
A |
T |
8: 23,575,688 (GRCm39) |
T145S |
probably damaging |
Het |
Aph1a |
T |
C |
3: 95,801,544 (GRCm39) |
F21S |
probably benign |
Het |
Apoa5 |
T |
A |
9: 46,181,341 (GRCm39) |
V139E |
probably damaging |
Het |
Arhgap44 |
T |
C |
11: 64,900,851 (GRCm39) |
K595R |
probably damaging |
Het |
Atp13a5 |
A |
T |
16: 29,099,887 (GRCm39) |
I683N |
probably damaging |
Het |
Cdc6 |
A |
G |
11: 98,810,118 (GRCm39) |
T476A |
probably benign |
Het |
Cdk10 |
T |
C |
8: 123,955,908 (GRCm39) |
V199A |
probably damaging |
Het |
Ces2h |
G |
A |
8: 105,742,570 (GRCm39) |
C94Y |
probably damaging |
Het |
Clcn1 |
G |
A |
6: 42,268,559 (GRCm39) |
G155D |
probably damaging |
Het |
Cxcr4 |
A |
G |
1: 128,517,251 (GRCm39) |
Y135H |
probably damaging |
Het |
Dapp1 |
A |
G |
3: 137,643,510 (GRCm39) |
V184A |
possibly damaging |
Het |
Dhrs7 |
A |
C |
12: 72,699,155 (GRCm39) |
S276A |
probably benign |
Het |
Dlg5 |
A |
G |
14: 24,220,496 (GRCm39) |
|
probably null |
Het |
Dnaaf1 |
T |
A |
8: 120,315,026 (GRCm39) |
F278Y |
probably damaging |
Het |
Dnaaf2 |
A |
G |
12: 69,244,992 (GRCm39) |
F23S |
probably benign |
Het |
En2 |
G |
T |
5: 28,371,330 (GRCm39) |
|
probably benign |
Het |
Erbb4 |
T |
A |
1: 68,117,755 (GRCm39) |
M887L |
probably benign |
Het |
Exoc5 |
T |
C |
14: 49,253,738 (GRCm39) |
M482V |
probably benign |
Het |
Foxk1 |
A |
G |
5: 142,441,164 (GRCm39) |
I571V |
possibly damaging |
Het |
Fry |
G |
A |
5: 150,394,897 (GRCm39) |
G650D |
probably benign |
Het |
Gm8225 |
T |
C |
17: 26,762,378 (GRCm39) |
S190P |
probably damaging |
Het |
Gpx5 |
G |
C |
13: 21,475,538 (GRCm39) |
H63D |
possibly damaging |
Het |
Ipo9 |
A |
T |
1: 135,334,555 (GRCm39) |
S285T |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,204,952 (GRCm39) |
H495R |
probably benign |
Het |
Klf11 |
T |
C |
12: 24,703,582 (GRCm39) |
S6P |
probably damaging |
Het |
Krtap8-1 |
A |
T |
16: 89,284,789 (GRCm39) |
Y3N |
possibly damaging |
Het |
Krtap8-1 |
G |
T |
16: 89,284,790 (GRCm39) |
Y2* |
probably null |
Het |
Lama1 |
T |
A |
17: 68,117,109 (GRCm39) |
L2468Q |
probably damaging |
Het |
Lmo7 |
T |
C |
14: 102,124,381 (GRCm39) |
L280S |
probably damaging |
Het |
Matk |
G |
A |
10: 81,097,377 (GRCm39) |
|
probably null |
Het |
Mcmdc2 |
A |
G |
1: 10,001,026 (GRCm39) |
T434A |
possibly damaging |
Het |
Mst1r |
T |
A |
9: 107,795,069 (GRCm39) |
L1283Q |
probably damaging |
Het |
Muc21 |
A |
G |
17: 35,932,563 (GRCm39) |
|
probably benign |
Het |
Nbn |
T |
A |
4: 15,970,863 (GRCm39) |
I282N |
probably damaging |
Het |
Ncln |
A |
G |
10: 81,328,756 (GRCm39) |
V174A |
probably benign |
Het |
Nipa2 |
G |
A |
7: 55,582,714 (GRCm39) |
H344Y |
probably benign |
Het |
Nlrp4g |
A |
G |
9: 124,349,306 (GRCm38) |
|
noncoding transcript |
Het |
Or56b1 |
G |
T |
7: 104,285,834 (GRCm39) |
E318* |
probably null |
Het |
Or6c38 |
T |
C |
10: 128,929,761 (GRCm39) |
I27M |
probably benign |
Het |
Pik3r5 |
T |
C |
11: 68,383,743 (GRCm39) |
S521P |
probably damaging |
Het |
Pkhd1l1 |
C |
T |
15: 44,396,415 (GRCm39) |
T1979M |
probably benign |
Het |
Plekhn1 |
T |
G |
4: 156,307,158 (GRCm39) |
D464A |
probably damaging |
Het |
Ppp4r1 |
T |
A |
17: 66,140,045 (GRCm39) |
Y648N |
probably damaging |
Het |
Prkaa2 |
C |
T |
4: 104,896,918 (GRCm39) |
|
probably null |
Het |
Prkdc |
T |
A |
16: 15,502,068 (GRCm39) |
H828Q |
probably benign |
Het |
Prss40 |
A |
T |
1: 34,598,984 (GRCm39) |
Y69* |
probably null |
Het |
Prx |
C |
T |
7: 27,207,284 (GRCm39) |
|
probably benign |
Het |
Psmd11 |
T |
A |
11: 80,319,530 (GRCm39) |
S7T |
possibly damaging |
Het |
Psmd14 |
A |
T |
2: 61,630,351 (GRCm39) |
H287L |
probably benign |
Het |
Rcor1 |
T |
C |
12: 111,076,226 (GRCm39) |
Y297H |
probably damaging |
Het |
Rnf40 |
T |
G |
7: 127,190,748 (GRCm39) |
V272G |
probably damaging |
Het |
Serpina3f |
G |
T |
12: 104,183,626 (GRCm39) |
E163* |
probably null |
Het |
Setd4 |
G |
A |
16: 93,387,871 (GRCm39) |
T205I |
probably damaging |
Het |
Shroom1 |
A |
T |
11: 53,357,274 (GRCm39) |
T646S |
probably benign |
Het |
Smg8 |
G |
C |
11: 86,976,554 (GRCm39) |
S342R |
probably benign |
Het |
Spata31h1 |
A |
G |
10: 82,119,789 (GRCm39) |
V4407A |
possibly damaging |
Het |
Trhde |
T |
C |
10: 114,237,421 (GRCm39) |
Y986C |
probably damaging |
Het |
Tulp2 |
A |
T |
7: 45,168,052 (GRCm39) |
T155S |
possibly damaging |
Het |
Vmn1r212 |
A |
T |
13: 23,068,120 (GRCm39) |
L71* |
probably null |
Het |
Wnk2 |
A |
T |
13: 49,192,644 (GRCm39) |
C2032* |
probably null |
Het |
Zfp429 |
A |
G |
13: 67,538,746 (GRCm39) |
Y233H |
probably benign |
Het |
Zfp809 |
C |
A |
9: 22,154,336 (GRCm39) |
T351K |
probably benign |
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 |
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'- TGACTGAAGGAGAACACATTGC -3'
(R):5'- TATGGTTACGTTCATGATCGTGAC -3'
Sequencing Primer
(F):5'- GCAACTGAGATAACCGCTAAATTTAC -3'
(R):5'- CGTGACAATTTGGAGTGCTATGAAC -3'
|
Posted On |
2014-10-30 |