Incidental Mutation 'IGL01360:Arhgap5'
| ID |
75696 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap5
|
| Ensembl Gene |
ENSMUSG00000035133 |
| Gene Name |
Rho GTPase activating protein 5 |
| Synonyms |
p190B, p190-B |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01360
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
52550755-52618758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52565023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 665
(I665F)
|
| 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 damaging
Transcript: ENSMUST00000110725
AA Change: I665F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106353
Gene: ENSMUSG00000035133
AA Change: I665F
| 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 damaging
Transcript: ENSMUST00000219443
AA Change: I665F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,325,648 (GRCm39) |
I1517L |
possibly damaging |
Het |
| Akap12 |
A |
T |
10: 4,307,537 (GRCm39) |
D1449V |
probably benign |
Het |
| Alg6 |
T |
A |
4: 99,630,643 (GRCm39) |
Y161N |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,864,482 (GRCm39) |
|
probably benign |
Het |
| Bbs4 |
A |
G |
9: 59,247,131 (GRCm39) |
V123A |
possibly damaging |
Het |
| Carm1 |
C |
T |
9: 21,498,598 (GRCm39) |
T480I |
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,591,513 (GRCm39) |
V1032M |
probably damaging |
Het |
| Cdc42bpb |
A |
C |
12: 111,308,509 (GRCm39) |
I101S |
probably damaging |
Het |
| Copa |
C |
A |
1: 171,915,155 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
T |
C |
17: 25,216,547 (GRCm39) |
I189V |
probably damaging |
Het |
| Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
| Egf |
A |
T |
3: 129,533,669 (GRCm39) |
F57Y |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,534,333 (GRCm39) |
I1168T |
probably benign |
Het |
| Gm14178 |
A |
G |
11: 99,638,269 (GRCm39) |
S37P |
unknown |
Het |
| Gpbp1 |
A |
T |
13: 111,563,075 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,390,981 (GRCm39) |
S3980P |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,617,670 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
T |
C |
11: 115,881,766 (GRCm39) |
S772P |
probably damaging |
Het |
| Kcng4 |
C |
A |
8: 120,352,416 (GRCm39) |
G498V |
probably benign |
Het |
| Lrp1 |
T |
G |
10: 127,381,689 (GRCm39) |
D3795A |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,584,772 (GRCm39) |
|
probably null |
Het |
| Mettl25 |
A |
T |
10: 105,659,058 (GRCm39) |
H408Q |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,307,505 (GRCm39) |
E457G |
probably damaging |
Het |
| Mpl |
G |
A |
4: 118,312,858 (GRCm39) |
T158I |
possibly damaging |
Het |
| Mtg2 |
C |
T |
2: 179,725,870 (GRCm39) |
T160I |
probably damaging |
Het |
| Mtif2 |
A |
G |
11: 29,480,110 (GRCm39) |
I59V |
probably benign |
Het |
| Ncapg |
C |
A |
5: 45,831,727 (GRCm39) |
S191* |
probably null |
Het |
| Nup214 |
T |
C |
2: 31,928,190 (GRCm39) |
|
probably benign |
Het |
| Or9m1 |
T |
C |
2: 87,733,871 (GRCm39) |
T50A |
probably benign |
Het |
| Phf3 |
T |
A |
1: 30,847,809 (GRCm39) |
T1245S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,250,770 (GRCm39) |
D443G |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,797,665 (GRCm39) |
D21V |
possibly damaging |
Het |
| Ptchd4 |
C |
A |
17: 42,627,936 (GRCm39) |
H132Q |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,455,481 (GRCm39) |
|
probably benign |
Het |
| Slc30a7 |
A |
T |
3: 115,783,765 (GRCm39) |
V136E |
probably damaging |
Het |
| Slc5a10 |
A |
G |
11: 61,605,962 (GRCm39) |
V116A |
probably damaging |
Het |
| Sos2 |
A |
T |
12: 69,637,574 (GRCm39) |
S1046T |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,116,554 (GRCm39) |
S899P |
possibly damaging |
Het |
| Tfr2 |
G |
A |
5: 137,569,953 (GRCm39) |
V120I |
probably benign |
Het |
| Tnfrsf18 |
A |
T |
4: 156,112,493 (GRCm39) |
R117* |
probably null |
Het |
| Trmt9b |
A |
G |
8: 36,979,713 (GRCm39) |
I439V |
probably benign |
Het |
| Vmn1r77 |
T |
G |
7: 11,775,315 (GRCm39) |
F30L |
probably benign |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,603 (GRCm39) |
M688T |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,510 (GRCm39) |
D389E |
possibly damaging |
Het |
| Zpld1 |
T |
G |
16: 55,046,748 (GRCm39) |
N407T |
probably benign |
Het |
| Zranb3 |
C |
T |
1: 127,887,622 (GRCm39) |
W935* |
probably null |
Het |
| Zyx |
G |
A |
6: 42,327,378 (GRCm39) |
R59Q |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation