Incidental Mutation 'R0707:Arhgap5'
| ID |
63186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap5
|
| Ensembl Gene |
ENSMUSG00000035133 |
| Gene Name |
Rho GTPase activating protein 5 |
| Synonyms |
p190B, p190-B |
| MMRRC Submission |
038890-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0707 (G1)
|
| Quality Score |
103 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
52550755-52618758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52564951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 641
(S641P)
|
| 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 damaging
Transcript: ENSMUST00000110725
AA Change: S641P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: S641P
| 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 damaging
Transcript: ENSMUST00000219443
AA Change: S641P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.4280 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (74/74) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
G |
4: 106,617,329 (GRCm39) |
F259S |
probably damaging |
Het |
| Aldh16a1 |
T |
A |
7: 44,793,931 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
A |
T |
10: 81,478,547 (GRCm39) |
|
probably benign |
Het |
| Arpp21 |
A |
C |
9: 111,986,824 (GRCm39) |
S242R |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Bud31 |
A |
G |
5: 145,083,265 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ccdc65 |
G |
A |
15: 98,607,095 (GRCm39) |
V101I |
possibly damaging |
Het |
| Ccr7 |
T |
A |
11: 99,036,809 (GRCm39) |
T38S |
probably damaging |
Het |
| Cdc14a |
T |
C |
3: 116,087,362 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
C |
T |
8: 105,677,618 (GRCm39) |
H208Y |
possibly damaging |
Het |
| Chst1 |
C |
A |
2: 92,443,964 (GRCm39) |
N145K |
possibly damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cog6 |
C |
T |
3: 52,921,283 (GRCm39) |
V108I |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,287,805 (GRCm39) |
N2881K |
unknown |
Het |
| Crtc2 |
T |
A |
3: 90,170,804 (GRCm39) |
F626I |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,673,144 (GRCm39) |
F792I |
probably damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,049,781 (GRCm39) |
K1780R |
probably benign |
Het |
| Dph5 |
A |
C |
3: 115,708,782 (GRCm39) |
N155H |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,626,982 (GRCm39) |
|
probably null |
Het |
| Etl4 |
C |
A |
2: 20,810,382 (GRCm39) |
|
probably benign |
Het |
| Flt3l |
T |
C |
7: 44,785,450 (GRCm39) |
S9G |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,944,498 (GRCm39) |
E159G |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gatad2b |
T |
A |
3: 90,263,489 (GRCm39) |
S529T |
probably benign |
Het |
| Herc6 |
G |
A |
6: 57,639,347 (GRCm39) |
G905E |
possibly damaging |
Het |
| Hhip |
T |
A |
8: 80,724,884 (GRCm39) |
N296I |
probably damaging |
Het |
| Hmgcr |
A |
T |
13: 96,787,151 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
G |
16: 33,830,951 (GRCm39) |
N723H |
possibly damaging |
Het |
| Mroh5 |
T |
A |
15: 73,662,588 (GRCm39) |
Y242F |
possibly damaging |
Het |
| Msh3 |
T |
A |
13: 92,483,848 (GRCm39) |
K258* |
probably null |
Het |
| Myo1a |
T |
C |
10: 127,555,732 (GRCm39) |
|
probably benign |
Het |
| Nlrp4f |
C |
T |
13: 65,342,317 (GRCm39) |
E443K |
probably benign |
Het |
| Nupr2 |
A |
G |
5: 129,937,533 (GRCm39) |
Y34C |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,452,255 (GRCm39) |
|
probably benign |
Het |
| Or1af1 |
A |
T |
2: 37,110,208 (GRCm39) |
K236* |
probably null |
Het |
| Or5af2 |
T |
A |
11: 58,708,577 (GRCm39) |
L248M |
probably damaging |
Het |
| Or5b3 |
A |
T |
19: 13,388,784 (GRCm39) |
M284L |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,414,331 (GRCm39) |
D182G |
probably damaging |
Het |
| Or6ae1 |
T |
C |
7: 139,742,002 (GRCm39) |
N287S |
probably damaging |
Het |
| P2ry12 |
C |
A |
3: 59,124,908 (GRCm39) |
V256F |
probably damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,651,904 (GRCm39) |
I124N |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,256,375 (GRCm39) |
F622L |
probably damaging |
Het |
| Pfas |
A |
T |
11: 68,888,863 (GRCm39) |
N361K |
probably benign |
Het |
| Plod2 |
T |
G |
9: 92,487,480 (GRCm39) |
L600V |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,446,854 (GRCm39) |
Y631H |
probably damaging |
Het |
| Proser1 |
T |
C |
3: 53,386,197 (GRCm39) |
L693P |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 75,875,476 (GRCm39) |
Y1195H |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,459,091 (GRCm39) |
|
probably null |
Het |
| Ric8a |
A |
G |
7: 140,437,886 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scfd1 |
A |
T |
12: 51,459,360 (GRCm39) |
K307M |
probably damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,261,117 (GRCm39) |
F33S |
probably damaging |
Het |
| Smg7 |
T |
G |
1: 152,746,508 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Strn3 |
G |
A |
12: 51,657,187 (GRCm39) |
T642I |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,028,837 (GRCm39) |
|
probably null |
Het |
| Syne3 |
A |
G |
12: 104,935,619 (GRCm39) |
L53P |
probably damaging |
Het |
| Tcea1 |
T |
A |
1: 4,950,569 (GRCm39) |
|
probably benign |
Het |
| Tmem30b |
T |
C |
12: 73,592,942 (GRCm39) |
N58D |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 98,991,954 (GRCm39) |
Y641H |
probably damaging |
Het |
| Trim25 |
A |
T |
11: 88,890,564 (GRCm39) |
T84S |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,746,286 (GRCm39) |
F537I |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,755,900 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
T |
A |
5: 87,040,758 (GRCm39) |
Y388F |
possibly damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,268,640 (GRCm39) |
V281A |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,882,502 (GRCm39) |
D1030E |
probably damaging |
Het |
| Vps8 |
C |
A |
16: 21,261,107 (GRCm39) |
F82L |
probably damaging |
Het |
| Zfp296 |
A |
G |
7: 19,313,661 (GRCm39) |
D172G |
probably benign |
Het |
| Zfp977 |
C |
A |
7: 42,229,958 (GRCm39) |
C189F |
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 |
|
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'- CATCACTGAGGCTGATAGCAAAGAAGT -3'
(R):5'- CCCTGGTGCCTGAGAATTGGTAGA -3'
Sequencing Primer
(F):5'- GCTTTACAGAAACTTGCACCTG -3'
(R):5'- AGATTTTTACTAATGGAATCCCTCTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation