Incidental Mutation 'R4037:Slc36a2'
| ID |
313761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc36a2
|
| Ensembl Gene |
ENSMUSG00000020264 |
| Gene Name |
solute carrier family 36 (proton/amino acid symporter), member 2 |
| Synonyms |
PAT2, Tramd1, A530067G19Rik |
| MMRRC Submission |
040964-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.352)
|
| Stock # |
R4037 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
55049296-55075903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55055101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 318
(D318G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039305]
|
| AlphaFold |
Q8BHK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039305
AA Change: D318G
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000045613
Gene: ENSMUSG00000020264
AA Change: D318G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
47 |
458 |
3.6e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125560
|
| Meta Mutation Damage Score |
0.2454 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
93% (37/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,597,319 (GRCm39) |
F881L |
probably benign |
Het |
| Capn6 |
A |
G |
X: 142,590,859 (GRCm39) |
W291R |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,033 (GRCm39) |
I776V |
probably damaging |
Het |
| Cpne5 |
C |
T |
17: 29,378,087 (GRCm39) |
R564H |
unknown |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dcc |
A |
G |
18: 72,483,468 (GRCm39) |
L17P |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Efcc1 |
C |
T |
6: 87,708,490 (GRCm39) |
Q206* |
probably null |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
| Hcls1 |
A |
G |
16: 36,776,987 (GRCm39) |
T226A |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,648,253 (GRCm39) |
T678S |
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,547,403 (GRCm39) |
V193A |
probably benign |
Het |
| Man1c1 |
C |
T |
4: 134,320,650 (GRCm39) |
D217N |
probably damaging |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,249,290 (GRCm39) |
S1338L |
probably damaging |
Het |
| Ogfrl1 |
T |
C |
1: 23,418,045 (GRCm39) |
|
probably benign |
Het |
| Or4a73 |
C |
T |
2: 89,421,379 (GRCm39) |
V27I |
probably benign |
Het |
| Or4c113 |
A |
G |
2: 88,885,032 (GRCm39) |
V246A |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,443,882 (GRCm39) |
I241T |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,514,793 (GRCm39) |
S537G |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ruvbl1 |
T |
A |
6: 88,450,117 (GRCm39) |
M96K |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,685,881 (GRCm39) |
I1880V |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,835,935 (GRCm39) |
N885D |
probably benign |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc38a4 |
G |
A |
15: 96,894,923 (GRCm39) |
A531V |
probably benign |
Het |
| Stat3 |
C |
T |
11: 100,783,951 (GRCm39) |
G658R |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,755,464 (GRCm39) |
|
probably null |
Het |
| Tnk2 |
G |
T |
16: 32,489,614 (GRCm39) |
A298S |
probably damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCAAGGGACCAATGGTG -3'
(R):5'- CAGCAAGGCTTTCTCTTCTTTAT -3'
Sequencing Primer
(F):5'- GTGGCTCCATCTCTCCCAGAG -3'
(R):5'- CTTTATGCTCCTGGTTGTTACTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation