Incidental Mutation 'IGL01835:Slc36a2'
| ID |
154939 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc36a2
|
| Ensembl Gene |
ENSMUSG00000020264 |
| Gene Name |
solute carrier family 36 (proton/amino acid symporter), member 2 |
| Synonyms |
PAT2, Tramd1, A530067G19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.363)
|
| Stock # |
IGL01835
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
55049296-55075903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55053559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 360
(I360V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039305]
|
| AlphaFold |
Q8BHK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039305
AA Change: I360V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000045613
Gene: ENSMUSG00000020264
AA Change: I360V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
47 |
458 |
3.6e-75 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,213,957 (GRCm39) |
M728K |
probably benign |
Het |
| 2700049A03Rik |
T |
A |
12: 71,213,955 (GRCm39) |
Y727* |
probably null |
Het |
| Adam23 |
T |
C |
1: 63,582,278 (GRCm39) |
Y309H |
probably damaging |
Het |
| Ash2l |
C |
T |
8: 26,329,868 (GRCm39) |
V97M |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,149,588 (GRCm39) |
F83L |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,112,784 (GRCm39) |
S1607T |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,260,435 (GRCm39) |
M969L |
possibly damaging |
Het |
| Dse |
T |
A |
10: 34,036,213 (GRCm39) |
|
probably benign |
Het |
| Dusp22 |
C |
T |
13: 30,892,666 (GRCm39) |
|
probably null |
Het |
| F5 |
G |
A |
1: 164,021,937 (GRCm39) |
V1471I |
probably benign |
Het |
| Gm14403 |
A |
T |
2: 177,199,049 (GRCm39) |
E48D |
probably damaging |
Het |
| Gm6309 |
G |
A |
5: 146,105,085 (GRCm39) |
A276V |
probably damaging |
Het |
| Icam4 |
A |
T |
9: 20,941,086 (GRCm39) |
T113S |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,163,650 (GRCm39) |
V236A |
probably benign |
Het |
| Mrc2 |
T |
G |
11: 105,227,503 (GRCm39) |
F579V |
probably damaging |
Het |
| Myl4 |
T |
A |
11: 104,468,279 (GRCm39) |
M1K |
probably null |
Het |
| Oas3 |
A |
T |
5: 120,904,193 (GRCm39) |
C560* |
probably null |
Het |
| Or2w25 |
T |
C |
11: 59,504,165 (GRCm39) |
V125A |
probably damaging |
Het |
| Or52e18 |
T |
C |
7: 104,609,669 (GRCm39) |
N90S |
probably benign |
Het |
| Prlr |
G |
A |
15: 10,329,129 (GRCm39) |
V535I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,165,058 (GRCm39) |
T48A |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,131,461 (GRCm39) |
H485R |
possibly damaging |
Het |
| Rnf13 |
A |
T |
3: 57,728,007 (GRCm39) |
H229L |
probably damaging |
Het |
| Rpap3 |
T |
C |
15: 97,601,120 (GRCm39) |
D39G |
possibly damaging |
Het |
| Sec23ip |
T |
A |
7: 128,357,035 (GRCm39) |
|
probably null |
Het |
| Sirpa |
T |
A |
2: 129,457,484 (GRCm39) |
F186Y |
possibly damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,268,040 (GRCm39) |
Y473H |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,918,705 (GRCm39) |
R975C |
probably benign |
Het |
| Sppl2b |
T |
A |
10: 80,701,175 (GRCm39) |
I350N |
probably damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,118,366 (GRCm39) |
N166I |
probably benign |
Het |
| Trav14n-3 |
A |
G |
14: 53,607,786 (GRCm39) |
T39A |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,950,015 (GRCm39) |
M812V |
probably benign |
Het |
| Vmn2r87 |
A |
C |
10: 130,314,978 (GRCm39) |
F203V |
probably damaging |
Het |
| Vwde |
A |
C |
6: 13,186,823 (GRCm39) |
V888G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,749 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc36a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Slc36a2
|
APN |
11 |
55,053,614 (GRCm39) |
nonsense |
probably null |
|
|
IGL01152:Slc36a2
|
APN |
11 |
55,060,673 (GRCm39) |
splice site |
probably benign |
|
|
IGL01545:Slc36a2
|
APN |
11 |
55,075,633 (GRCm39) |
splice site |
probably null |
|
|
IGL02935:Slc36a2
|
APN |
11 |
55,060,854 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0025:Slc36a2
|
UTSW |
11 |
55,053,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Slc36a2
|
UTSW |
11 |
55,053,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Slc36a2
|
UTSW |
11 |
55,053,466 (GRCm39) |
splice site |
probably benign |
|
|
R0417:Slc36a2
|
UTSW |
11 |
55,072,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0747:Slc36a2
|
UTSW |
11 |
55,060,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0927:Slc36a2
|
UTSW |
11 |
55,072,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1186:Slc36a2
|
UTSW |
11 |
55,055,057 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1673:Slc36a2
|
UTSW |
11 |
55,075,739 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1677:Slc36a2
|
UTSW |
11 |
55,075,735 (GRCm39) |
missense |
probably benign |
|
|
R2109:Slc36a2
|
UTSW |
11 |
55,072,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4037:Slc36a2
|
UTSW |
11 |
55,055,101 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4945:Slc36a2
|
UTSW |
11 |
55,065,520 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5108:Slc36a2
|
UTSW |
11 |
55,050,214 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6534:Slc36a2
|
UTSW |
11 |
55,075,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7188:Slc36a2
|
UTSW |
11 |
55,053,483 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7219:Slc36a2
|
UTSW |
11 |
55,059,744 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7564:Slc36a2
|
UTSW |
11 |
55,053,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8017:Slc36a2
|
UTSW |
11 |
55,055,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8019:Slc36a2
|
UTSW |
11 |
55,055,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8310:Slc36a2
|
UTSW |
11 |
55,070,158 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9282:Slc36a2
|
UTSW |
11 |
55,060,837 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9334:Slc36a2
|
UTSW |
11 |
55,075,865 (GRCm39) |
start gained |
probably benign |
|
|
R9711:Slc36a2
|
UTSW |
11 |
55,070,169 (GRCm39) |
missense |
probably benign |
|
|
X0063:Slc36a2
|
UTSW |
11 |
55,059,654 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Slc36a2
|
UTSW |
11 |
55,070,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Slc36a2
|
UTSW |
11 |
55,060,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-02-04 |
Incidental Mutation