Incidental Mutation 'R2261:Arhgap31'
| ID |
243826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap31
|
| Ensembl Gene |
ENSMUSG00000022799 |
| Gene Name |
Rho GTPase activating protein 31 |
| Synonyms |
CdGAP |
| MMRRC Submission |
040261-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
R2261 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
38418705-38533397 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38429639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 412
(Q412L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023487]
|
| AlphaFold |
A6X8Z5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023487
AA Change: Q412L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023487
Gene: ENSMUSG00000022799
AA Change: Q412L
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGAP
|
32 |
213 |
1.04e-60 |
SMART |
|
low complexity region
|
291 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
766 |
786 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1342 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (60/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,242,288 (GRCm39) |
M1384L |
probably benign |
Het |
| Ahdc1 |
A |
G |
4: 132,790,474 (GRCm39) |
T572A |
unknown |
Het |
| Arsi |
T |
C |
18: 61,049,737 (GRCm39) |
Y207H |
probably damaging |
Het |
| Bco1 |
T |
C |
8: 117,859,764 (GRCm39) |
L489S |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,347,961 (GRCm39) |
H709L |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,652,139 (GRCm39) |
T2A |
possibly damaging |
Het |
| Casz1 |
G |
T |
4: 149,013,556 (GRCm39) |
R40L |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,152,907 (GRCm39) |
V2372A |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,047,820 (GRCm39) |
S56T |
possibly damaging |
Het |
| Ces2h |
T |
A |
8: 105,743,191 (GRCm39) |
M142K |
probably damaging |
Het |
| Cfap69 |
C |
A |
5: 5,646,018 (GRCm39) |
V561F |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
T |
A |
12: 117,843,760 (GRCm39) |
M4362L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,930,374 (GRCm39) |
T3324A |
probably damaging |
Het |
| Dnajc3 |
A |
G |
14: 119,198,232 (GRCm39) |
Q118R |
probably damaging |
Het |
| Dok4 |
A |
T |
8: 95,593,140 (GRCm39) |
C182S |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,523,666 (GRCm39) |
|
probably null |
Het |
| Fanca |
A |
G |
8: 124,016,098 (GRCm39) |
|
probably null |
Het |
| Flt3 |
G |
A |
5: 147,284,873 (GRCm39) |
P748L |
probably benign |
Het |
| Gbp2b |
G |
A |
3: 142,312,496 (GRCm39) |
S293N |
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,163,999 (GRCm39) |
Q433R |
possibly damaging |
Het |
| Gm12874 |
G |
A |
4: 122,487,533 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
T |
A |
16: 36,713,722 (GRCm39) |
F234L |
probably damaging |
Het |
| Gpr65 |
A |
T |
12: 98,241,494 (GRCm39) |
N49I |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,821,489 (GRCm39) |
V385M |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,934,715 (GRCm39) |
|
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,115,647 (GRCm39) |
Y295H |
probably benign |
Het |
| Morc3 |
T |
A |
16: 93,650,109 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Nell1 |
C |
T |
7: 50,210,569 (GRCm39) |
T494I |
possibly damaging |
Het |
| Npy2r |
A |
G |
3: 82,448,346 (GRCm39) |
V30A |
possibly damaging |
Het |
| Nsd2 |
A |
T |
5: 34,042,871 (GRCm39) |
Q1045L |
probably damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,464 (GRCm39) |
F254S |
probably damaging |
Het |
| Or5d40 |
T |
A |
2: 88,015,965 (GRCm39) |
I248N |
probably damaging |
Het |
| Otub1 |
T |
A |
19: 7,176,861 (GRCm39) |
|
probably null |
Het |
| Pcdh1 |
A |
T |
18: 38,331,710 (GRCm39) |
L431H |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,346,184 (GRCm39) |
V778A |
probably benign |
Het |
| Plekhm2 |
C |
T |
4: 141,370,043 (GRCm39) |
E29K |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,603 (GRCm39) |
N1468S |
probably damaging |
Het |
| Rnf111 |
T |
C |
9: 70,383,673 (GRCm39) |
S87G |
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Saxo1 |
C |
T |
4: 86,397,212 (GRCm39) |
D109N |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc20a1 |
A |
G |
2: 129,048,394 (GRCm39) |
R260G |
possibly damaging |
Het |
| Slk |
T |
C |
19: 47,625,791 (GRCm39) |
I1090T |
probably damaging |
Het |
| Spr-ps1 |
G |
T |
6: 85,132,945 (GRCm39) |
|
noncoding transcript |
Het |
| Ssh1 |
T |
C |
5: 114,080,764 (GRCm39) |
S867G |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,915,796 (GRCm39) |
C814S |
probably damaging |
Het |
| Stmn2 |
T |
C |
3: 8,606,955 (GRCm39) |
F25S |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,826,053 (GRCm39) |
I200V |
probably benign |
Het |
| Tmem184c |
A |
G |
8: 78,323,672 (GRCm39) |
Y397H |
probably damaging |
Het |
| Tmem184c |
T |
C |
8: 78,323,804 (GRCm39) |
T353A |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 98,935,757 (GRCm39) |
H406R |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,140,773 (GRCm39) |
S1231P |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 37,988,528 (GRCm39) |
D2143E |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,464,090 (GRCm39) |
N248S |
probably benign |
Het |
| Vmn2r63 |
G |
T |
7: 42,578,031 (GRCm39) |
T169N |
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,873 (GRCm39) |
L397Q |
probably damaging |
Het |
| Zmym2 |
G |
A |
14: 57,165,719 (GRCm39) |
E681K |
probably damaging |
Het |
|
| Other mutations in Arhgap31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00741:Arhgap31
|
APN |
16 |
38,423,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01062:Arhgap31
|
APN |
16 |
38,421,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01152:Arhgap31
|
APN |
16 |
38,422,601 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01680:Arhgap31
|
APN |
16 |
38,423,976 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01739:Arhgap31
|
APN |
16 |
38,423,793 (GRCm39) |
missense |
probably benign |
|
|
IGL01870:Arhgap31
|
APN |
16 |
38,438,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01936:Arhgap31
|
APN |
16 |
38,423,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01981:Arhgap31
|
APN |
16 |
38,421,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01983:Arhgap31
|
APN |
16 |
38,422,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02157:Arhgap31
|
APN |
16 |
38,444,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02629:Arhgap31
|
APN |
16 |
38,429,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03375:Arhgap31
|
APN |
16 |
38,423,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4283001:Arhgap31
|
UTSW |
16 |
38,429,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Arhgap31
|
UTSW |
16 |
38,422,872 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1325:Arhgap31
|
UTSW |
16 |
38,423,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1753:Arhgap31
|
UTSW |
16 |
38,421,974 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1766:Arhgap31
|
UTSW |
16 |
38,445,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Arhgap31
|
UTSW |
16 |
38,424,065 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2104:Arhgap31
|
UTSW |
16 |
38,445,941 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3011:Arhgap31
|
UTSW |
16 |
38,422,269 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3712:Arhgap31
|
UTSW |
16 |
38,422,895 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3757:Arhgap31
|
UTSW |
16 |
38,457,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3953:Arhgap31
|
UTSW |
16 |
38,423,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4105:Arhgap31
|
UTSW |
16 |
38,422,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4107:Arhgap31
|
UTSW |
16 |
38,422,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4108:Arhgap31
|
UTSW |
16 |
38,422,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4109:Arhgap31
|
UTSW |
16 |
38,422,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4198:Arhgap31
|
UTSW |
16 |
38,444,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4200:Arhgap31
|
UTSW |
16 |
38,444,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4273:Arhgap31
|
UTSW |
16 |
38,422,697 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5020:Arhgap31
|
UTSW |
16 |
38,423,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5100:Arhgap31
|
UTSW |
16 |
38,421,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:Arhgap31
|
UTSW |
16 |
38,429,766 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6879:Arhgap31
|
UTSW |
16 |
38,422,676 (GRCm39) |
missense |
probably benign |
|
|
R7341:Arhgap31
|
UTSW |
16 |
38,532,876 (GRCm39) |
splice site |
probably null |
|
|
R7880:Arhgap31
|
UTSW |
16 |
38,423,087 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7884:Arhgap31
|
UTSW |
16 |
38,422,593 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8156:Arhgap31
|
UTSW |
16 |
38,445,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8223:Arhgap31
|
UTSW |
16 |
38,424,084 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8413:Arhgap31
|
UTSW |
16 |
38,423,283 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8545:Arhgap31
|
UTSW |
16 |
38,423,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8679:Arhgap31
|
UTSW |
16 |
38,422,966 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8721:Arhgap31
|
UTSW |
16 |
38,427,058 (GRCm39) |
missense |
probably benign |
|
|
R8815:Arhgap31
|
UTSW |
16 |
38,429,790 (GRCm39) |
missense |
probably benign |
|
|
R9056:Arhgap31
|
UTSW |
16 |
38,427,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9077:Arhgap31
|
UTSW |
16 |
38,422,730 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9251:Arhgap31
|
UTSW |
16 |
38,423,218 (GRCm39) |
missense |
probably benign |
|
|
R9382:Arhgap31
|
UTSW |
16 |
38,422,988 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9500:Arhgap31
|
UTSW |
16 |
38,460,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9544:Arhgap31
|
UTSW |
16 |
38,423,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0063:Arhgap31
|
UTSW |
16 |
38,422,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Arhgap31
|
UTSW |
16 |
38,444,255 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGTTGAGCGCCTTTCG -3'
(R):5'- AAGTTTCTGGGAAAGAGGCTC -3'
Sequencing Primer
(F):5'- CGCCTTTCGCTGGTGGC -3'
(R):5'- GCTCTTCTTCACCAGGGAAAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation