Incidental Mutation 'R7842:Arhgap5'
| ID |
606396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap5
|
| Ensembl Gene |
ENSMUSG00000035133 |
| Gene Name |
Rho GTPase activating protein 5 |
| Synonyms |
p190B, p190-B |
| MMRRC Submission |
045896-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7842 (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 52565480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 817
(M817K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106353
(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: M817K
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: M817K
| 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 |
possibly damaging
Transcript: ENSMUST00000219443
AA Change: M817K
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (77/78) |
| 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 |
|---|
| 1700034J05Rik |
T |
C |
6: 146,855,034 (GRCm39) |
T3A |
unknown |
Het |
| 4933412E24Rik |
T |
C |
15: 59,888,422 (GRCm39) |
E6G |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,087,523 (GRCm39) |
L1135P |
possibly damaging |
Het |
| Agps |
A |
G |
2: 75,681,876 (GRCm39) |
D113G |
probably damaging |
Het |
| Ankhd1 |
G |
T |
18: 36,780,881 (GRCm39) |
V1978L |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,957,966 (GRCm39) |
|
probably null |
Het |
| Bdp1 |
C |
A |
13: 100,235,637 (GRCm39) |
V105F |
probably damaging |
Het |
| Brdt |
A |
G |
5: 107,496,454 (GRCm39) |
N189D |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,909,428 (GRCm39) |
N532I |
probably benign |
Het |
| Ccnc |
A |
C |
4: 21,730,480 (GRCm39) |
K39T |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,392,487 (GRCm39) |
V207A |
unknown |
Het |
| Cfap57 |
C |
A |
4: 118,411,952 (GRCm39) |
G1231* |
probably null |
Het |
| Chd7 |
A |
T |
4: 8,854,115 (GRCm39) |
T1896S |
probably benign |
Het |
| Clk4 |
A |
T |
11: 51,171,956 (GRCm39) |
H412L |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,465,100 (GRCm39) |
L109P |
probably damaging |
Het |
| Cxxc4 |
A |
T |
3: 133,946,093 (GRCm39) |
I225L |
possibly damaging |
Het |
| Cyp4f39 |
A |
T |
17: 32,702,291 (GRCm39) |
R263W |
probably benign |
Het |
| Dennd10 |
G |
A |
19: 60,819,317 (GRCm39) |
A263T |
not run |
Het |
| Dip2c |
T |
C |
13: 9,656,569 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
G |
1: 181,455,463 (GRCm39) |
T863A |
probably damaging |
Het |
| Dnah17 |
C |
A |
11: 117,970,508 (GRCm39) |
|
probably null |
Het |
| Dnajc10 |
A |
G |
2: 80,175,409 (GRCm39) |
K599E |
probably benign |
Het |
| Dnajc7 |
C |
A |
11: 100,489,544 (GRCm39) |
R101L |
probably benign |
Het |
| Dnttip2 |
G |
A |
3: 122,069,990 (GRCm39) |
E402K |
probably benign |
Het |
| Dusp22 |
T |
A |
13: 30,852,774 (GRCm39) |
|
probably null |
Het |
| Egflam |
C |
A |
15: 7,280,675 (GRCm39) |
R450M |
probably null |
Het |
| Eml5 |
C |
T |
12: 98,760,394 (GRCm39) |
R1785Q |
probably damaging |
Het |
| Fam78b |
G |
T |
1: 166,829,178 (GRCm39) |
R15L |
probably damaging |
Het |
| Fbxl5 |
A |
T |
5: 43,915,945 (GRCm39) |
I489N |
probably damaging |
Het |
| Flt3 |
G |
A |
5: 147,271,263 (GRCm39) |
P893S |
probably damaging |
Het |
| Gm17019 |
T |
C |
5: 15,081,049 (GRCm39) |
M131V |
possibly damaging |
Het |
| Gm21560 |
T |
A |
14: 6,216,262 (GRCm38) |
I194F |
probably benign |
Het |
| Gm28729 |
T |
C |
9: 96,399,705 (GRCm39) |
D158G |
probably damaging |
Het |
| Gucy2c |
C |
T |
6: 136,746,814 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
C |
T |
12: 51,819,343 (GRCm39) |
G1247S |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,816,970 (GRCm39) |
I946K |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,873,531 (GRCm39) |
D249V |
probably benign |
Het |
| Klhdc7a |
A |
G |
4: 139,694,549 (GRCm39) |
S133P |
probably damaging |
Het |
| Lsr |
A |
T |
7: 30,665,437 (GRCm39) |
D172E |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,420,702 (GRCm39) |
E184G |
probably benign |
Het |
| Map2 |
T |
A |
1: 66,455,570 (GRCm39) |
D1421E |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,490,030 (GRCm39) |
L467H |
possibly damaging |
Het |
| Mogat1 |
T |
C |
1: 78,499,502 (GRCm39) |
|
probably null |
Het |
| Mxra8 |
A |
G |
4: 155,927,367 (GRCm39) |
D384G |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,762,321 (GRCm39) |
T1214A |
|
Het |
| Naip1 |
T |
C |
13: 100,563,506 (GRCm39) |
Y553C |
probably damaging |
Het |
| Nln |
A |
T |
13: 104,189,137 (GRCm39) |
I278K |
probably benign |
Het |
| Nsmaf |
T |
A |
4: 6,435,109 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
G |
14: 56,102,553 (GRCm39) |
R741G |
probably damaging |
Het |
| Or4p8 |
A |
G |
2: 88,727,305 (GRCm39) |
V212A |
possibly damaging |
Het |
| Or52e19b |
A |
G |
7: 103,032,783 (GRCm39) |
V142A |
probably benign |
Het |
| Or5d38 |
C |
T |
2: 87,955,330 (GRCm39) |
|
probably benign |
Het |
| Or8j3 |
G |
T |
2: 86,028,516 (GRCm39) |
Y193* |
probably null |
Het |
| Orc1 |
A |
G |
4: 108,462,744 (GRCm39) |
H607R |
probably benign |
Het |
| Pate2 |
A |
T |
9: 35,581,829 (GRCm39) |
Y41F |
probably damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,112 (GRCm39) |
T213S |
possibly damaging |
Het |
| Pcm1 |
G |
A |
8: 41,780,621 (GRCm39) |
E1858K |
possibly damaging |
Het |
| Pla2g2d |
A |
G |
4: 138,506,089 (GRCm39) |
T59A |
probably damaging |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Prl2c2 |
A |
G |
13: 13,179,907 (GRCm39) |
L2P |
probably benign |
Het |
| Proz |
G |
A |
8: 13,113,406 (GRCm39) |
V76I |
probably benign |
Het |
| Prr36 |
A |
G |
8: 4,260,953 (GRCm39) |
S955P |
probably benign |
Het |
| Pter |
T |
C |
2: 12,983,352 (GRCm39) |
V119A |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,433,567 (GRCm39) |
|
probably null |
Het |
| Rbm15b |
T |
C |
9: 106,763,088 (GRCm39) |
E360G |
probably damaging |
Het |
| Skint11 |
G |
A |
4: 114,101,968 (GRCm39) |
C327Y |
possibly damaging |
Het |
| Spag17 |
T |
A |
3: 99,961,174 (GRCm39) |
S987T |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Tbx1 |
T |
C |
16: 18,405,365 (GRCm39) |
S100G |
unknown |
Het |
| Tiam2 |
C |
T |
17: 3,568,399 (GRCm39) |
S1515L |
possibly damaging |
Het |
| Togaram1 |
C |
A |
12: 65,013,233 (GRCm39) |
D161E |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,532,003 (GRCm39) |
S366T |
possibly damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,724 (GRCm39) |
I691T |
possibly damaging |
Het |
| Ube4a |
A |
G |
9: 44,861,025 (GRCm39) |
|
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,235,516 (GRCm39) |
I1453N |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,058,313 (GRCm39) |
S972P |
probably damaging |
Het |
| Wdr20 |
G |
A |
12: 110,704,649 (GRCm39) |
D63N |
probably benign |
Het |
| Wls |
T |
A |
3: 159,578,816 (GRCm39) |
I126N |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,355,289 (GRCm39) |
D3350G |
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 |
|
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 |
|
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'- AGCTCTAAGAGGAGTATTGGAATC -3'
(R):5'- ACTGTCAGTAACTGCCACCAG -3'
Sequencing Primer
(F):5'- AGGAGTATTGGAATCAGTTAAACAC -3'
(R):5'- GCCACCAGTTGTACAGGAATAGTATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation