Incidental Mutation 'R5911:Arhgap5'
| ID |
461016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap5
|
| Ensembl Gene |
ENSMUSG00000035133 |
| Gene Name |
Rho GTPase activating protein 5 |
| Synonyms |
p190B, p190-B |
| MMRRC Submission |
044108-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5911 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
52550755-52618758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 52565525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 832
(T832I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110725]
[ENSMUST00000217820]
[ENSMUST00000219443]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110725
AA Change: T832I
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: T832I
| 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 |
possibly damaging
Transcript: ENSMUST00000219443
AA Change: T832I
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.0910 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
92% (77/84) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
C |
T |
3: 124,350,380 (GRCm39) |
|
probably benign |
Het |
| Acacb |
A |
T |
5: 114,370,951 (GRCm39) |
D1731V |
probably damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,226,778 (GRCm39) |
V563I |
possibly damaging |
Het |
| Ak7 |
A |
G |
12: 105,692,471 (GRCm39) |
E175G |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,116,747 (GRCm39) |
T602S |
probably damaging |
Het |
| Caps2 |
C |
T |
10: 112,001,591 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
G |
T |
10: 4,508,551 (GRCm39) |
E592* |
probably null |
Het |
| Clasp1 |
C |
A |
1: 118,434,638 (GRCm39) |
|
probably benign |
Het |
| Crhbp |
T |
A |
13: 95,568,564 (GRCm39) |
M291L |
probably benign |
Het |
| Cyp3a41b |
T |
A |
5: 145,519,349 (GRCm39) |
L47F |
probably benign |
Het |
| Dgcr6 |
A |
G |
16: 17,884,598 (GRCm39) |
D82G |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,800,754 (GRCm39) |
E592G |
probably damaging |
Het |
| Dtl |
G |
A |
1: 191,300,519 (GRCm39) |
T115I |
probably damaging |
Het |
| Ece2 |
A |
G |
16: 20,457,510 (GRCm39) |
Y338C |
probably damaging |
Het |
| Egr3 |
A |
G |
14: 70,316,897 (GRCm39) |
D198G |
probably damaging |
Het |
| Ereg |
A |
C |
5: 91,222,552 (GRCm39) |
|
probably benign |
Het |
| Esp31 |
G |
C |
17: 38,951,933 (GRCm39) |
|
probably null |
Het |
| Faap100 |
T |
C |
11: 120,267,958 (GRCm39) |
I272V |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,328,560 (GRCm39) |
D109G |
probably damaging |
Het |
| Fam3c |
T |
A |
6: 22,339,299 (GRCm39) |
M51L |
probably benign |
Het |
| Fcnb |
A |
T |
2: 27,966,701 (GRCm39) |
N277K |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,009,325 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,373,932 (GRCm39) |
F289S |
possibly damaging |
Het |
| Grik4 |
C |
A |
9: 42,502,720 (GRCm39) |
V468F |
probably damaging |
Het |
| Gtdc1 |
T |
A |
2: 44,642,076 (GRCm39) |
R168S |
probably benign |
Het |
| Gucy2c |
C |
T |
6: 136,699,440 (GRCm39) |
G610R |
probably damaging |
Het |
| Gulp1 |
A |
T |
1: 44,793,534 (GRCm39) |
Q65L |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,849,035 (GRCm39) |
D356E |
probably damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,157,737 (GRCm39) |
|
probably benign |
Het |
| Igkv13-57-2 |
T |
C |
6: 69,500,971 (GRCm39) |
|
noncoding transcript |
Het |
| Itih4 |
A |
G |
14: 30,612,612 (GRCm39) |
I213V |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,214,441 (GRCm39) |
K1469E |
probably benign |
Het |
| Jkampl |
T |
C |
6: 73,445,674 (GRCm39) |
T292A |
probably damaging |
Het |
| Jrk |
T |
C |
15: 74,577,617 (GRCm39) |
D556G |
possibly damaging |
Het |
| Kctd16 |
A |
T |
18: 40,663,905 (GRCm39) |
I345F |
probably benign |
Het |
| Klhdc1 |
A |
G |
12: 69,303,025 (GRCm39) |
E187G |
possibly damaging |
Het |
| Lrch3 |
T |
C |
16: 32,779,833 (GRCm39) |
Y111H |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,315,229 (GRCm39) |
V319D |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,156,092 (GRCm39) |
L553P |
probably damaging |
Het |
| Or1e23 |
T |
A |
11: 73,407,351 (GRCm39) |
I225F |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,915 (GRCm39) |
H172L |
probably benign |
Het |
| Or5d38 |
C |
T |
2: 87,955,027 (GRCm39) |
V101I |
probably benign |
Het |
| Or5e1 |
T |
A |
7: 108,354,882 (GRCm39) |
I273N |
probably benign |
Het |
| Or5p66 |
T |
A |
7: 107,885,605 (GRCm39) |
T243S |
probably damaging |
Het |
| Or7g26 |
T |
C |
9: 19,230,445 (GRCm39) |
I205T |
probably benign |
Het |
| Pelp1 |
C |
T |
11: 70,287,740 (GRCm39) |
R394H |
probably damaging |
Het |
| Ppp1r13l |
G |
T |
7: 19,109,817 (GRCm39) |
|
probably null |
Het |
| Prr5 |
C |
A |
15: 84,585,635 (GRCm39) |
S201* |
probably null |
Het |
| Rad23b |
T |
A |
4: 55,370,474 (GRCm39) |
|
probably null |
Het |
| Rasgef1a |
T |
A |
6: 118,061,335 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,738,832 (GRCm39) |
I565N |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,945,600 (GRCm39) |
N527S |
probably damaging |
Het |
| Slc39a5 |
T |
A |
10: 128,235,812 (GRCm39) |
N49Y |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,694,058 (GRCm39) |
S571T |
probably benign |
Het |
| Spdye4c |
C |
T |
2: 128,437,994 (GRCm39) |
R245* |
probably null |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,926,454 (GRCm39) |
D480V |
probably benign |
Het |
| Thpo |
T |
A |
16: 20,547,546 (GRCm39) |
S22C |
probably null |
Het |
| Top2a |
T |
A |
11: 98,907,291 (GRCm39) |
T180S |
possibly damaging |
Het |
| Trim37 |
T |
A |
11: 87,087,663 (GRCm39) |
Y34* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,819,361 (GRCm39) |
E1254G |
possibly damaging |
Het |
| Ttc39a |
C |
T |
4: 109,280,168 (GRCm39) |
P150L |
possibly damaging |
Het |
| Ttc4 |
T |
C |
4: 106,525,240 (GRCm39) |
D298G |
probably damaging |
Het |
| Ttll1 |
A |
G |
15: 83,386,482 (GRCm39) |
V41A |
probably benign |
Het |
| Vmn1r20 |
C |
A |
6: 57,408,774 (GRCm39) |
H33Q |
probably benign |
Het |
| Zan |
A |
T |
5: 137,456,174 (GRCm39) |
Y1329N |
unknown |
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 |
|
|
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'- TCAGAAGCTGACTTGAGAATTGTC -3'
(R):5'- AGTTGCAATGTGTTCTCCTTCAG -3'
Sequencing Primer
(F):5'- AAGCTGACTTGAGAATTGTCATGTG -3'
(R):5'- GCCTCATTTTCAAAGAAATCAGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation