Incidental Mutation 'R7442:Arhgap5'
| ID |
577039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap5
|
| Ensembl Gene |
ENSMUSG00000035133 |
| Gene Name |
Rho GTPase activating protein 5 |
| Synonyms |
p190B, p190-B |
| MMRRC Submission |
045518-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
52550755-52618758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52563739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 237
(T237A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106353
(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: T237A
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: T237A
| 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 |
probably benign
Transcript: ENSMUST00000219443
AA Change: T237A
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (76/76) |
| 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 |
|---|
| 1700011L22Rik |
A |
G |
8: 79,946,919 (GRCm39) |
I109T |
probably damaging |
Het |
| A430033K04Rik |
T |
C |
5: 138,645,509 (GRCm39) |
S465P |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,078 (GRCm39) |
F753L |
probably damaging |
Het |
| Adam9 |
A |
T |
8: 25,457,223 (GRCm39) |
V635E |
probably damaging |
Het |
| Adgre4 |
T |
A |
17: 56,159,340 (GRCm39) |
V675E |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,014,543 (GRCm39) |
Y469H |
probably benign |
Het |
| Ankdd1b |
T |
G |
13: 96,561,268 (GRCm39) |
K325N |
possibly damaging |
Het |
| Aox1 |
T |
C |
1: 58,121,172 (GRCm39) |
V881A |
probably damaging |
Het |
| Asah1 |
T |
C |
8: 41,796,602 (GRCm39) |
D331G |
possibly damaging |
Het |
| Atp5f1a |
G |
A |
18: 77,866,820 (GRCm39) |
R231H |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,964,522 (GRCm39) |
P2694L |
probably damaging |
Het |
| Bst1 |
T |
C |
5: 43,979,084 (GRCm39) |
S143P |
probably benign |
Het |
| Cacna1b |
A |
C |
2: 24,497,513 (GRCm39) |
S2132A |
probably benign |
Het |
| Caps2 |
G |
T |
10: 112,044,259 (GRCm39) |
R486L |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,097,868 (GRCm39) |
S1077P |
possibly damaging |
Het |
| Cd68 |
T |
C |
11: 69,556,754 (GRCm39) |
T18A |
probably benign |
Het |
| Cdk8 |
T |
C |
5: 146,229,579 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,932,072 (GRCm39) |
I127N |
unknown |
Het |
| Dsc3 |
T |
C |
18: 20,114,213 (GRCm39) |
D347G |
probably damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,786 (GRCm39) |
S491G |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,828,266 (GRCm39) |
Y530* |
probably null |
Het |
| Enc1 |
A |
T |
13: 97,383,248 (GRCm39) |
H586L |
probably benign |
Het |
| Ephb6 |
T |
G |
6: 41,594,981 (GRCm39) |
|
probably null |
Het |
| Etv5 |
G |
T |
16: 22,254,809 (GRCm39) |
Q48K |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,019,558 (GRCm39) |
W404R |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,245,132 (GRCm39) |
A252S |
possibly damaging |
Het |
| Foxe3 |
A |
G |
4: 114,782,490 (GRCm39) |
S241P |
unknown |
Het |
| Gm49380 |
T |
A |
9: 44,023,709 (GRCm39) |
M180L |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,593,903 (GRCm39) |
D153V |
probably damaging |
Het |
| Ifi207 |
C |
T |
1: 173,554,997 (GRCm39) |
S895N |
probably benign |
Het |
| Igf1r |
G |
A |
7: 67,823,026 (GRCm39) |
V385M |
probably damaging |
Het |
| Ints9 |
C |
T |
14: 65,232,513 (GRCm39) |
Q191* |
probably null |
Het |
| Ktn1 |
A |
G |
14: 47,952,097 (GRCm39) |
E979G |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,605,238 (GRCm39) |
|
probably null |
Het |
| Lrtm2 |
C |
T |
6: 119,294,392 (GRCm39) |
M246I |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,982,590 (GRCm39) |
V75A |
probably benign |
Het |
| Mia3 |
T |
C |
1: 183,140,220 (GRCm39) |
E165G |
probably benign |
Het |
| Mrps21 |
T |
C |
3: 95,770,128 (GRCm39) |
E67G |
probably damaging |
Het |
| Mybpc1 |
A |
C |
10: 88,362,155 (GRCm39) |
I995S |
probably damaging |
Het |
| Mylk2 |
T |
G |
2: 152,753,346 (GRCm39) |
|
probably benign |
Het |
| Myo16 |
G |
A |
8: 10,322,537 (GRCm39) |
C11Y |
probably damaging |
Het |
| Nudt18 |
A |
C |
14: 70,816,798 (GRCm39) |
D134A |
probably benign |
Het |
| Obox1 |
G |
T |
7: 15,289,491 (GRCm39) |
K93N |
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,624,816 (GRCm39) |
H153L |
possibly damaging |
Het |
| Or2r3 |
A |
T |
6: 42,448,434 (GRCm39) |
M226K |
probably benign |
Het |
| Or56a4 |
T |
C |
7: 104,806,289 (GRCm39) |
Y200C |
probably damaging |
Het |
| Or5ar1 |
A |
T |
2: 85,672,096 (GRCm39) |
V13D |
probably benign |
Het |
| Pkd2l1 |
T |
C |
19: 44,145,668 (GRCm39) |
H185R |
probably benign |
Het |
| Ptpn18 |
A |
G |
1: 34,501,831 (GRCm39) |
T48A |
probably benign |
Het |
| Ptprd |
A |
T |
4: 75,978,058 (GRCm39) |
Y583* |
probably null |
Het |
| Ptprk |
G |
A |
10: 28,450,815 (GRCm39) |
G992D |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,656,700 (GRCm39) |
F206L |
probably damaging |
Het |
| Slain1 |
A |
G |
14: 103,923,150 (GRCm39) |
D247G |
probably damaging |
Het |
| Slc10a2 |
A |
T |
8: 5,139,086 (GRCm39) |
V286E |
possibly damaging |
Het |
| Slc44a2 |
C |
T |
9: 21,256,819 (GRCm39) |
T367I |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,115,919 (GRCm39) |
V685A |
probably benign |
Het |
| Srp54c |
T |
A |
12: 55,302,347 (GRCm39) |
Y333N |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,039,091 (GRCm39) |
S1912P |
unknown |
Het |
| St7l |
A |
G |
3: 104,796,645 (GRCm39) |
T253A |
possibly damaging |
Het |
| Styxl2 |
T |
C |
1: 165,928,584 (GRCm39) |
K343E |
probably benign |
Het |
| Sun3 |
T |
G |
11: 8,981,445 (GRCm39) |
Y53S |
possibly damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,561 (GRCm39) |
N373S |
possibly damaging |
Het |
| Tmco3 |
T |
A |
8: 13,370,781 (GRCm39) |
S648R |
probably damaging |
Het |
| Tmem178 |
T |
A |
17: 81,252,185 (GRCm39) |
V23D |
probably damaging |
Het |
| Tmem229a |
C |
A |
6: 24,955,689 (GRCm39) |
G22W |
probably damaging |
Het |
| Top3a |
C |
T |
11: 60,644,744 (GRCm39) |
S320N |
possibly damaging |
Het |
| Treml1 |
C |
A |
17: 48,673,719 (GRCm39) |
D243E |
probably damaging |
Het |
| Trim42 |
C |
T |
9: 97,244,998 (GRCm39) |
V601M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,573,350 (GRCm39) |
S25848P |
probably damaging |
Het |
| Vmn1r86 |
A |
T |
7: 12,835,983 (GRCm39) |
F298I |
possibly damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,793,662 (GRCm39) |
F2S |
probably benign |
Het |
| Xpc |
A |
G |
6: 91,481,631 (GRCm39) |
L230P |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,867,680 (GRCm39) |
V189A |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,519,468 (GRCm39) |
T197A |
probably damaging |
Het |
| Zswim1 |
A |
G |
2: 164,667,710 (GRCm39) |
K321E |
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 |
|
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 |
|
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'- GCAAATGCCTGAAGGGAAACTC -3'
(R):5'- ATGCTTTGAGAATGTATTTCTGGCC -3'
Sequencing Primer
(F):5'- TGCCTGAAGGGAAACTCAATGTAG -3'
(R):5'- AGAATGTATTTCTGGCCTTTCTTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation