Incidental Mutation 'R4736:Arhgap5'
| ID |
359276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap5
|
| Ensembl Gene |
ENSMUSG00000035133 |
| Gene Name |
Rho GTPase activating protein 5 |
| Synonyms |
p190B, p190-B |
| MMRRC Submission |
041963-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4736 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
52550755-52618758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52565860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 944
(M944L)
|
| 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: M944L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: M944L
| 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: M944L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0694 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,246 (GRCm39) |
I1145T |
probably damaging |
Het |
| Aadat |
T |
C |
8: 60,993,140 (GRCm39) |
V360A |
probably benign |
Het |
| Abhd16a |
A |
T |
17: 35,320,859 (GRCm39) |
T436S |
probably benign |
Het |
| Acbd5 |
G |
T |
2: 22,989,596 (GRCm39) |
L406F |
probably damaging |
Het |
| Agrn |
G |
A |
4: 156,256,858 (GRCm39) |
T1142M |
probably benign |
Het |
| Aig1 |
C |
A |
10: 13,677,674 (GRCm39) |
W106L |
probably damaging |
Het |
| Akr1d1 |
T |
C |
6: 37,534,535 (GRCm39) |
|
probably null |
Het |
| Ap1g1 |
G |
A |
8: 110,581,714 (GRCm39) |
D658N |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,862,006 (GRCm39) |
Y520C |
probably damaging |
Het |
| Asic5 |
C |
T |
3: 81,907,116 (GRCm39) |
T47I |
possibly damaging |
Het |
| Cabp5 |
A |
G |
7: 13,134,664 (GRCm39) |
|
probably null |
Het |
| Ccr6 |
A |
T |
17: 8,474,896 (GRCm39) |
R34* |
probably null |
Het |
| Cdin1 |
A |
G |
2: 115,412,369 (GRCm39) |
I2V |
probably benign |
Het |
| Clec4a2 |
T |
C |
6: 123,117,622 (GRCm39) |
I180T |
probably damaging |
Het |
| Cmtr1 |
A |
G |
17: 29,919,216 (GRCm39) |
E704G |
possibly damaging |
Het |
| Cyth3 |
G |
A |
5: 143,670,234 (GRCm39) |
|
probably null |
Het |
| Dbt |
T |
C |
3: 116,332,781 (GRCm39) |
I200T |
probably damaging |
Het |
| Dennd6b |
T |
C |
15: 89,069,795 (GRCm39) |
H468R |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,132,666 (GRCm39) |
M1237V |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,917,657 (GRCm39) |
Y616C |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,006,862 (GRCm39) |
S3710T |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,925,408 (GRCm39) |
S1584T |
probably benign |
Het |
| Emc3 |
G |
A |
6: 113,508,310 (GRCm39) |
T45I |
possibly damaging |
Het |
| Esf1 |
T |
A |
2: 139,966,891 (GRCm39) |
D685V |
probably damaging |
Het |
| Ezr |
A |
G |
17: 7,008,975 (GRCm39) |
S366P |
probably benign |
Het |
| Gbe1 |
C |
T |
16: 70,292,141 (GRCm39) |
A491V |
probably damaging |
Het |
| Haus6 |
A |
G |
4: 86,518,986 (GRCm39) |
|
probably null |
Het |
| Heca |
G |
A |
10: 17,790,935 (GRCm39) |
Q12* |
probably null |
Het |
| Hpdl |
T |
C |
4: 116,678,221 (GRCm39) |
N80S |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,249,840 (GRCm39) |
Q2261L |
probably benign |
Het |
| Itgae |
G |
T |
11: 73,005,706 (GRCm39) |
R290L |
possibly damaging |
Het |
| Kcna10 |
C |
A |
3: 107,102,808 (GRCm39) |
L480I |
probably benign |
Het |
| Kif27 |
T |
C |
13: 58,476,785 (GRCm39) |
T622A |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,080,925 (GRCm39) |
N966S |
probably damaging |
Het |
| Mdfic |
A |
G |
6: 15,741,019 (GRCm39) |
K38E |
possibly damaging |
Het |
| Med25 |
G |
A |
7: 44,541,712 (GRCm39) |
A26V |
probably damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,329 (GRCm39) |
S77R |
probably damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,862,474 (GRCm39) |
D1485V |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,161,971 (GRCm39) |
D493G |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,131,746 (GRCm39) |
T69A |
probably benign |
Het |
| Myo16 |
G |
T |
8: 10,423,527 (GRCm39) |
G288W |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,809,236 (GRCm39) |
L1815P |
probably damaging |
Het |
| Myom2 |
T |
A |
8: 15,131,271 (GRCm39) |
L323Q |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,581,034 (GRCm39) |
D71G |
possibly damaging |
Het |
| Nktr |
T |
A |
9: 121,578,805 (GRCm39) |
|
probably benign |
Het |
| Nol10 |
A |
G |
12: 17,405,288 (GRCm39) |
K88E |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 22,852,050 (GRCm39) |
D505G |
probably damaging |
Het |
| Nynrin |
T |
A |
14: 56,101,454 (GRCm39) |
N374K |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,954,362 (GRCm39) |
L3740Q |
probably damaging |
Het |
| Or5g23 |
T |
C |
2: 85,438,327 (GRCm39) |
H309R |
probably benign |
Het |
| Otub2 |
T |
A |
12: 103,359,103 (GRCm39) |
L64Q |
probably benign |
Het |
| Pgm5 |
G |
A |
19: 24,812,169 (GRCm39) |
A121V |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,195,039 (GRCm39) |
Y120N |
probably benign |
Het |
| Rpl36al |
G |
A |
12: 69,229,732 (GRCm39) |
A60V |
possibly damaging |
Het |
| Rspo4 |
T |
C |
2: 151,685,054 (GRCm39) |
Y21H |
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,430,412 (GRCm39) |
V455A |
probably benign |
Het |
| Serpina1f |
T |
C |
12: 103,659,805 (GRCm39) |
D159G |
probably damaging |
Het |
| Sf1 |
A |
G |
19: 6,415,694 (GRCm39) |
D11G |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,067,332 (GRCm39) |
F633S |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,067,173 (GRCm39) |
S89P |
possibly damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,022,698 (GRCm39) |
E501G |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,303,855 (GRCm39) |
S294P |
probably damaging |
Het |
| Smad3 |
T |
G |
9: 63,664,842 (GRCm39) |
K40Q |
probably damaging |
Het |
| Stt3a |
T |
A |
9: 36,661,008 (GRCm39) |
M268L |
probably benign |
Het |
| Taf4 |
A |
T |
2: 179,566,287 (GRCm39) |
V817E |
probably damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,383,835 (GRCm39) |
T58A |
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,609,871 (GRCm39) |
V113A |
probably damaging |
Het |
| Ttll13 |
T |
A |
7: 79,898,024 (GRCm39) |
|
probably null |
Het |
| Uba7 |
T |
C |
9: 107,857,364 (GRCm39) |
L742P |
probably benign |
Het |
| Ulk2 |
A |
G |
11: 61,724,261 (GRCm39) |
L174P |
probably damaging |
Het |
| Unc5c |
A |
T |
3: 141,522,692 (GRCm39) |
Y706F |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,688,831 (GRCm39) |
|
probably null |
Het |
| Usp34 |
T |
A |
11: 23,343,749 (GRCm39) |
|
probably null |
Het |
| Vmn1r71 |
A |
T |
7: 10,481,791 (GRCm39) |
V233D |
possibly damaging |
Het |
| Xpo6 |
T |
C |
7: 125,739,755 (GRCm39) |
K439R |
probably benign |
Het |
| Xrn1 |
G |
T |
9: 95,915,689 (GRCm39) |
G1271C |
probably damaging |
Het |
| Yes1 |
A |
T |
5: 32,818,121 (GRCm39) |
E386V |
probably damaging |
Het |
| Zfp759 |
C |
A |
13: 67,287,408 (GRCm39) |
H320N |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,512 (GRCm39) |
H170L |
possibly 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 |
|
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'- CCTGTACAACTGGTGGCAGTTAC -3'
(R):5'- TGTATCTGGAACGGTCACTAGG -3'
Sequencing Primer
(F):5'- GCAGTTACTGACAGTCAAGCTG -3'
(R):5'- CTAGGTGTTGGAAGCAACTGTACATC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation