Incidental Mutation 'R0747:Slc36a2'
| ID |
70195 |
| 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 |
038928-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.352)
|
| Stock # |
R0747 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
55049296-55075903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55060685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 242
(I242F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039305]
|
| AlphaFold |
Q8BHK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039305
AA Change: I242F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000045613
Gene: ENSMUSG00000020264
AA Change: I242F
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
100% (50/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
A |
T |
11: 46,009,322 (GRCm39) |
|
probably null |
Het |
| Anks4b |
C |
T |
7: 119,781,386 (GRCm39) |
A139V |
probably damaging |
Het |
| Arf1 |
G |
A |
11: 59,103,461 (GRCm39) |
R149C |
probably benign |
Het |
| Axl |
A |
T |
7: 25,463,484 (GRCm39) |
C598S |
possibly damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,316 (GRCm39) |
I291V |
possibly damaging |
Het |
| Ccdc158 |
T |
A |
5: 92,781,156 (GRCm39) |
H883L |
probably benign |
Het |
| Cep15 |
T |
A |
14: 12,287,287 (GRCm38) |
M16K |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,730,375 (GRCm39) |
S1644P |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,797,564 (GRCm39) |
S1343P |
probably damaging |
Het |
| D430041D05Rik |
G |
T |
2: 104,060,651 (GRCm39) |
H1414Q |
probably damaging |
Het |
| Dnah5 |
C |
G |
15: 28,444,332 (GRCm39) |
I4043M |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,444,333 (GRCm39) |
C4044S |
possibly damaging |
Het |
| Dpep3 |
C |
T |
8: 106,704,018 (GRCm39) |
A267T |
probably benign |
Het |
| Dync1h1 |
A |
C |
12: 110,578,845 (GRCm39) |
H106P |
probably benign |
Het |
| Dync1h1 |
A |
C |
12: 110,595,718 (GRCm39) |
E1466A |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,700,337 (GRCm39) |
|
probably benign |
Het |
| Frmd6 |
A |
G |
12: 70,910,830 (GRCm39) |
T5A |
probably benign |
Het |
| Gnb5 |
G |
A |
9: 75,218,752 (GRCm39) |
V26I |
probably benign |
Het |
| Hephl1 |
A |
T |
9: 14,965,297 (GRCm39) |
|
probably benign |
Het |
| Hmmr |
C |
T |
11: 40,612,572 (GRCm39) |
|
probably benign |
Het |
| Hpn |
A |
T |
7: 30,798,971 (GRCm39) |
F356Y |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,014,810 (GRCm39) |
|
probably benign |
Het |
| Ism2 |
A |
G |
12: 87,332,172 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
T |
A |
11: 104,233,802 (GRCm39) |
M754L |
probably benign |
Het |
| Kcnc4 |
A |
T |
3: 107,355,470 (GRCm39) |
I326N |
probably damaging |
Het |
| Lcn6 |
G |
A |
2: 25,567,184 (GRCm39) |
V62M |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,760,353 (GRCm39) |
C2858S |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,745,638 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
T |
A |
3: 104,709,812 (GRCm39) |
H358L |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,362,152 (GRCm39) |
V60A |
unknown |
Het |
| Or2t6 |
C |
T |
14: 14,175,429 (GRCm38) |
A218T |
probably benign |
Het |
| Pgap2 |
C |
A |
7: 101,886,343 (GRCm39) |
Y176* |
probably null |
Het |
| Pglyrp1 |
A |
G |
7: 18,624,200 (GRCm39) |
Q161R |
possibly damaging |
Het |
| Plod3 |
A |
G |
5: 137,017,049 (GRCm39) |
N66S |
probably benign |
Het |
| Psmc3 |
A |
G |
2: 90,884,645 (GRCm39) |
E18G |
probably benign |
Het |
| Psme3 |
T |
G |
11: 101,207,872 (GRCm39) |
M9R |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,053,417 (GRCm39) |
N428S |
possibly damaging |
Het |
| Rbp3 |
A |
G |
14: 33,678,235 (GRCm39) |
I728V |
possibly damaging |
Het |
| Sall4 |
A |
T |
2: 168,596,886 (GRCm39) |
H651Q |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,111,102 (GRCm39) |
Y76N |
probably damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,255,263 (GRCm39) |
T342A |
probably damaging |
Het |
| Slc25a1 |
G |
T |
16: 17,744,084 (GRCm39) |
T239K |
probably damaging |
Het |
| Tekt2 |
G |
A |
4: 126,217,553 (GRCm39) |
Q171* |
probably null |
Het |
| Tet2 |
T |
G |
3: 133,173,231 (GRCm39) |
H1677P |
possibly damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trcg1 |
C |
T |
9: 57,149,204 (GRCm39) |
P259S |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,540,942 (GRCm39) |
S25688A |
probably damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,694,477 (GRCm39) |
R457* |
probably null |
Het |
| Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAGGTACTGGCAAACGGTTTAC -3'
(R):5'- CAAGAACGAGACGGTAGTTCTGACG -3'
Sequencing Primer
(F):5'- CTGGCAAACGGTTTACTAATGG -3'
(R):5'- GTAGTTCTGACGCCCACC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation