Incidental Mutation 'IGL02953:Adap2'
| ID |
365014 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adap2
|
| Ensembl Gene |
ENSMUSG00000020709 |
| Gene Name |
ArfGAP with dual PH domains 2 |
| Synonyms |
Centa2, centaurin alpha 2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
80044931-80069784 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80045126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 29
(G29R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021050]
[ENSMUST00000134118]
|
| AlphaFold |
Q8R2V5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021050
AA Change: G29R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021050
Gene: ENSMUSG00000020709
AA Change: G29R
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
9 |
130 |
1.62e-42 |
SMART |
|
PH
|
133 |
235 |
4.57e-8 |
SMART |
|
PH
|
256 |
363 |
2.35e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134118
AA Change: G29R
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130731
Gene: ENSMUSG00000020709
AA Change: G29R
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
9 |
130 |
1.62e-42 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140556
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
G |
16: 88,570,534 (GRCm39) |
S169P |
possibly damaging |
Het |
| Adcy2 |
A |
T |
13: 68,877,447 (GRCm39) |
I431N |
probably damaging |
Het |
| Amer3 |
T |
C |
1: 34,626,877 (GRCm39) |
V372A |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,157 (GRCm39) |
V267D |
probably benign |
Het |
| Atp6v0b |
A |
T |
4: 117,742,419 (GRCm39) |
V111E |
probably damaging |
Het |
| Cep20 |
T |
C |
16: 14,122,339 (GRCm39) |
K142E |
probably benign |
Het |
| Clmp |
T |
A |
9: 40,685,683 (GRCm39) |
L193Q |
probably damaging |
Het |
| Dcaf7 |
T |
G |
11: 105,942,702 (GRCm39) |
Y216* |
probably null |
Het |
| Dcbld2 |
T |
A |
16: 58,272,100 (GRCm39) |
D385E |
probably benign |
Het |
| Des |
T |
A |
1: 75,340,288 (GRCm39) |
D398E |
possibly damaging |
Het |
| Fancm |
C |
T |
12: 65,168,740 (GRCm39) |
T1701I |
probably benign |
Het |
| Fat1 |
C |
A |
8: 45,477,351 (GRCm39) |
D2132E |
probably damaging |
Het |
| Fkbp14 |
T |
C |
6: 54,556,667 (GRCm39) |
K161R |
probably damaging |
Het |
| Fuca2 |
C |
T |
10: 13,383,173 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
T |
A |
19: 56,302,664 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Herc3 |
C |
T |
6: 58,834,718 (GRCm39) |
Q242* |
probably null |
Het |
| Igkv4-81 |
T |
C |
6: 68,967,981 (GRCm39) |
K40R |
probably benign |
Het |
| Irf5 |
C |
A |
6: 29,536,671 (GRCm39) |
H461N |
possibly damaging |
Het |
| Lypd11 |
C |
T |
7: 24,422,991 (GRCm39) |
C109Y |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,198,171 (GRCm39) |
V1267M |
probably damaging |
Het |
| Nlk |
A |
G |
11: 78,517,527 (GRCm39) |
V155A |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,878,241 (GRCm39) |
H303Y |
possibly damaging |
Het |
| Pld1 |
A |
C |
3: 28,166,396 (GRCm39) |
M812L |
probably benign |
Het |
| Rab11fip3 |
C |
A |
17: 26,286,653 (GRCm39) |
R500L |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,602,194 (GRCm39) |
E389K |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,748 (GRCm39) |
R174C |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,713,329 (GRCm39) |
R405G |
possibly damaging |
Het |
| Srpx |
A |
T |
X: 9,983,706 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,914,337 (GRCm39) |
|
probably benign |
Het |
| Tcerg1 |
C |
T |
18: 42,681,535 (GRCm39) |
P561S |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,205,634 (GRCm39) |
N757K |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,752,774 (GRCm39) |
L1782F |
probably damaging |
Het |
| Tut1 |
G |
T |
19: 8,940,056 (GRCm39) |
V347L |
probably damaging |
Het |
| Txnip |
T |
A |
3: 96,465,682 (GRCm39) |
V44D |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,579,857 (GRCm39) |
T369I |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,746,224 (GRCm39) |
N842S |
probably benign |
Het |
|
| Other mutations in Adap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02383:Adap2
|
APN |
11 |
80,051,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02442:Adap2
|
APN |
11 |
80,068,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4283001:Adap2
|
UTSW |
11 |
80,068,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0157:Adap2
|
UTSW |
11 |
80,056,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Adap2
|
UTSW |
11 |
80,069,211 (GRCm39) |
splice site |
probably benign |
|
|
R0499:Adap2
|
UTSW |
11 |
80,066,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0722:Adap2
|
UTSW |
11 |
80,047,810 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0828:Adap2
|
UTSW |
11 |
80,056,490 (GRCm39) |
splice site |
probably benign |
|
|
R1938:Adap2
|
UTSW |
11 |
80,061,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Adap2
|
UTSW |
11 |
80,056,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3103:Adap2
|
UTSW |
11 |
80,047,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4621:Adap2
|
UTSW |
11 |
80,064,899 (GRCm39) |
splice site |
probably null |
|
|
R5157:Adap2
|
UTSW |
11 |
80,047,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Adap2
|
UTSW |
11 |
80,045,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6914:Adap2
|
UTSW |
11 |
80,045,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6942:Adap2
|
UTSW |
11 |
80,045,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7835:Adap2
|
UTSW |
11 |
80,051,057 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8879:Adap2
|
UTSW |
11 |
80,047,785 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9183:Adap2
|
UTSW |
11 |
80,045,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9408:Adap2
|
UTSW |
11 |
80,045,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation