Incidental Mutation 'R7239:Arhgap5'
| ID |
563096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap5
|
| Ensembl Gene |
ENSMUSG00000035133 |
| Gene Name |
Rho GTPase activating protein 5 |
| Synonyms |
p190B, p190-B |
| MMRRC Submission |
045346-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
52550755-52618758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52564159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 377
(C377S)
|
| 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: C377S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: C377S
| 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: C377S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
99% (76/77) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
A |
G |
16: 21,472,268 (GRCm39) |
V144A |
probably damaging |
Het |
| Abca5 |
A |
T |
11: 110,217,530 (GRCm39) |
Y109N |
possibly damaging |
Het |
| Abcb5 |
T |
C |
12: 118,892,460 (GRCm39) |
Q433R |
probably benign |
Het |
| Adamts7 |
G |
A |
9: 90,068,610 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,624,731 (GRCm39) |
D3746G |
possibly damaging |
Het |
| Arhgap29 |
C |
T |
3: 121,782,599 (GRCm39) |
S159L |
probably benign |
Het |
| Atp1a3 |
G |
A |
7: 24,700,129 (GRCm39) |
P77L |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,812,754 (GRCm39) |
D257G |
probably damaging |
Het |
| Bin1 |
T |
A |
18: 32,539,224 (GRCm39) |
N52K |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,409,507 (GRCm39) |
M562T |
probably benign |
Het |
| Ccdc33 |
G |
A |
9: 57,940,192 (GRCm39) |
Q713* |
probably null |
Het |
| Cd96 |
A |
T |
16: 45,929,477 (GRCm39) |
L156Q |
probably damaging |
Het |
| Clpb |
A |
G |
7: 101,360,662 (GRCm39) |
T231A |
probably damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dnmt3a |
A |
T |
12: 3,922,850 (GRCm39) |
Q151L |
probably benign |
Het |
| Dock2 |
C |
T |
11: 34,181,677 (GRCm39) |
V1629M |
probably benign |
Het |
| Edem1 |
G |
A |
6: 108,831,341 (GRCm39) |
D601N |
probably benign |
Het |
| Eno2 |
C |
T |
6: 124,745,228 (GRCm39) |
V20M |
probably damaging |
Het |
| Eny2 |
A |
C |
15: 44,297,250 (GRCm39) |
D52A |
probably benign |
Het |
| Esp36 |
T |
C |
17: 38,728,132 (GRCm39) |
R93G |
possibly damaging |
Het |
| Fam227a |
A |
G |
15: 79,518,263 (GRCm39) |
|
probably null |
Het |
| Fat4 |
C |
A |
3: 39,037,989 (GRCm39) |
H3880Q |
possibly damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,434,598 (GRCm39) |
V334E |
possibly damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,329 (GRCm39) |
Q406R |
probably benign |
Het |
| Frmpd2 |
A |
G |
14: 33,274,034 (GRCm39) |
N1092S |
probably benign |
Het |
| Gm904 |
C |
A |
13: 50,799,287 (GRCm39) |
T82K |
probably benign |
Het |
| Gnas |
G |
C |
2: 174,140,408 (GRCm39) |
G252R |
unknown |
Het |
| Gpatch2l |
A |
G |
12: 86,307,349 (GRCm39) |
|
probably null |
Het |
| H2ac6 |
A |
T |
13: 23,867,593 (GRCm39) |
I103N |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,541,187 (GRCm39) |
V204A |
probably benign |
Het |
| Ikzf4 |
A |
G |
10: 128,477,113 (GRCm39) |
L119P |
probably damaging |
Het |
| Ing3 |
G |
A |
6: 21,952,193 (GRCm39) |
E56K |
probably damaging |
Het |
| Klhl25 |
T |
C |
7: 75,516,516 (GRCm39) |
I474T |
probably benign |
Het |
| Klhl5 |
T |
C |
5: 65,318,529 (GRCm39) |
V556A |
probably damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,081 (GRCm39) |
M382K |
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,292,745 (GRCm39) |
V199A |
possibly damaging |
Het |
| Lpcat4 |
T |
A |
2: 112,073,052 (GRCm39) |
F200I |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,894,725 (GRCm39) |
T2282A |
|
Het |
| Lrrk1 |
T |
C |
7: 65,911,903 (GRCm39) |
T1886A |
probably benign |
Het |
| Meis2 |
T |
C |
2: 115,889,484 (GRCm39) |
|
probably null |
Het |
| Mki67 |
C |
T |
7: 135,301,905 (GRCm39) |
R1043K |
possibly damaging |
Het |
| Myct1 |
G |
T |
10: 5,554,601 (GRCm39) |
R156L |
possibly damaging |
Het |
| Nckap5l |
G |
T |
15: 99,324,090 (GRCm39) |
H804Q |
probably damaging |
Het |
| Ndst3 |
T |
G |
3: 123,400,555 (GRCm39) |
E450D |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,321,619 (GRCm39) |
|
probably null |
Het |
| Npy |
A |
G |
6: 49,800,587 (GRCm39) |
N4D |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,487 (GRCm39) |
Y218F |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 16,008,748 (GRCm39) |
S18G |
probably benign |
Het |
| Pcdha9 |
T |
G |
18: 37,131,551 (GRCm39) |
F207V |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,697 (GRCm39) |
I692F |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,015,384 (GRCm39) |
V200E |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,543,981 (GRCm39) |
L345I |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,113,472 (GRCm39) |
A315T |
probably damaging |
Het |
| Rnf111 |
G |
A |
9: 70,376,655 (GRCm39) |
T328I |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,349,614 (GRCm39) |
L3825P |
|
Het |
| Rtl1 |
C |
T |
12: 109,558,909 (GRCm39) |
V977I |
probably benign |
Het |
| Scn1a |
G |
A |
2: 66,108,000 (GRCm39) |
|
probably null |
Het |
| Slc25a2 |
G |
T |
18: 37,770,748 (GRCm39) |
N260K |
probably benign |
Het |
| Sprtn |
T |
C |
8: 125,626,983 (GRCm39) |
V121A |
probably damaging |
Het |
| Ssx2ip |
T |
G |
3: 146,133,771 (GRCm39) |
L260W |
probably damaging |
Het |
| Syde1 |
G |
A |
10: 78,424,615 (GRCm39) |
R406C |
probably damaging |
Het |
| Tab1 |
A |
G |
15: 80,017,372 (GRCm39) |
R6G |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,385,020 (GRCm39) |
V526I |
possibly damaging |
Het |
| Tfap2b |
T |
C |
1: 19,304,404 (GRCm39) |
F405L |
probably damaging |
Het |
| Trbv13-1 |
C |
A |
6: 41,093,325 (GRCm39) |
T87K |
probably benign |
Het |
| Trmt44 |
G |
T |
5: 35,732,130 (GRCm39) |
A87E |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,617,634 (GRCm39) |
D16279G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,711,672 (GRCm39) |
R8290C |
unknown |
Het |
| Ugt2b37 |
T |
A |
5: 87,402,590 (GRCm39) |
I14L |
probably benign |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,611 (GRCm39) |
M257L |
probably benign |
Het |
| Vmn1r184 |
C |
T |
7: 25,966,602 (GRCm39) |
P116L |
possibly damaging |
Het |
| Zfp426 |
T |
C |
9: 20,381,887 (GRCm39) |
T367A |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,795,956 (GRCm39) |
C235S |
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 |
|
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'- GTTGTCACAGCAACAGACAAG -3'
(R):5'- GCTGCCCAGGTGAAATGAAC -3'
Sequencing Primer
(F):5'- CAGACTGTGAGAGATTATCATGCAAC -3'
(R):5'- GCTTCTAAAGTGCTCAGAA -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation