Incidental Mutation 'IGL02935:Slc36a2'
| ID |
364272 |
| 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: 0.352)
|
| Stock # |
IGL02935
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
55049296-55075903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 55060854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 185
(N185K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039305]
|
| AlphaFold |
Q8BHK3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039305
AA Change: N185K
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000045613
Gene: ENSMUSG00000020264
AA Change: N185K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
47 |
458 |
3.6e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125560
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
G |
A |
13: 54,709,675 (GRCm39) |
P13L |
possibly damaging |
Het |
| A930016O22Rik |
A |
T |
7: 19,154,338 (GRCm39) |
|
probably benign |
Het |
| Ajuba |
A |
G |
14: 54,807,924 (GRCm39) |
F436S |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,971,625 (GRCm39) |
A961S |
probably damaging |
Het |
| Brca1 |
A |
G |
11: 101,380,693 (GRCm39) |
V1780A |
probably benign |
Het |
| Bub1 |
A |
G |
2: 127,643,215 (GRCm39) |
L1043S |
probably damaging |
Het |
| Cngb3 |
T |
A |
4: 19,425,491 (GRCm39) |
M433K |
possibly damaging |
Het |
| Col4a1 |
T |
C |
8: 11,269,166 (GRCm39) |
D928G |
probably damaging |
Het |
| Colq |
G |
A |
14: 31,257,591 (GRCm39) |
P259S |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,273,348 (GRCm39) |
Y828C |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,520,514 (GRCm39) |
R448G |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,712,182 (GRCm39) |
D1435G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,225,926 (GRCm39) |
L1188* |
probably null |
Het |
| Duox1 |
G |
T |
2: 122,155,000 (GRCm39) |
G462C |
possibly damaging |
Het |
| Flcn |
A |
T |
11: 59,686,062 (GRCm39) |
I402N |
possibly damaging |
Het |
| Fuca2 |
G |
A |
10: 13,383,063 (GRCm39) |
E344K |
probably null |
Het |
| Golim4 |
T |
C |
3: 75,802,299 (GRCm39) |
H331R |
possibly damaging |
Het |
| Grid1 |
A |
T |
14: 34,544,515 (GRCm39) |
I29F |
possibly damaging |
Het |
| Hltf |
T |
A |
3: 20,123,215 (GRCm39) |
F201Y |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,691,339 (GRCm39) |
I677N |
probably benign |
Het |
| Meioc |
A |
G |
11: 102,563,017 (GRCm39) |
T72A |
probably benign |
Het |
| Meox2 |
A |
T |
12: 37,159,104 (GRCm39) |
H92L |
probably damaging |
Het |
| Mlec |
C |
A |
5: 115,295,873 (GRCm39) |
R74L |
probably benign |
Het |
| Mrpl58 |
G |
A |
11: 115,301,054 (GRCm39) |
|
probably benign |
Het |
| Mtch1 |
T |
C |
17: 29,555,184 (GRCm39) |
D288G |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,582,990 (GRCm39) |
E1090G |
probably benign |
Het |
| Nicn1 |
A |
G |
9: 108,167,845 (GRCm39) |
N39S |
probably benign |
Het |
| Nlrp9c |
A |
G |
7: 26,084,701 (GRCm39) |
S293P |
probably benign |
Het |
| Or2bd2 |
G |
A |
7: 6,443,753 (GRCm39) |
V285M |
possibly damaging |
Het |
| Or51b4 |
T |
C |
7: 103,530,871 (GRCm39) |
N193S |
probably damaging |
Het |
| Or5al1 |
G |
T |
2: 85,990,714 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
T |
A |
14: 88,704,438 (GRCm39) |
|
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,714,128 (GRCm39) |
V365F |
probably damaging |
Het |
| Penk |
A |
G |
4: 4,133,843 (GRCm39) |
F268S |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,603,300 (GRCm39) |
Y116N |
probably damaging |
Het |
| Prex1 |
C |
A |
2: 166,412,265 (GRCm39) |
G389C |
probably damaging |
Het |
| Ptch2 |
C |
T |
4: 116,971,967 (GRCm39) |
A1163V |
probably damaging |
Het |
| Rasgrp3 |
G |
A |
17: 75,804,065 (GRCm39) |
V123I |
probably benign |
Het |
| Sox9 |
G |
T |
11: 112,676,175 (GRCm39) |
G455C |
probably damaging |
Het |
| St6galnac1 |
G |
T |
11: 116,660,171 (GRCm39) |
D47E |
probably benign |
Het |
| Taar5 |
A |
T |
10: 23,847,415 (GRCm39) |
D271V |
probably damaging |
Het |
| Top3a |
A |
T |
11: 60,653,354 (GRCm39) |
I85K |
possibly damaging |
Het |
| Ttll8 |
T |
A |
15: 88,798,759 (GRCm39) |
M659L |
probably benign |
Het |
| Ythdc2 |
C |
T |
18: 44,988,112 (GRCm39) |
R656C |
probably damaging |
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 |
|
|
IGL01835:Slc36a2
|
APN |
11 |
55,053,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2015-12-18 |
Incidental Mutation