Incidental Mutation 'R6461:Slc29a2'
| ID |
517621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc29a2
|
| Ensembl Gene |
ENSMUSG00000024891 |
| Gene Name |
solute carrier family 29 (nucleoside transporters), member 2 |
| Synonyms |
HNP36, ENT2, Der12 |
| MMRRC Submission |
044390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.210)
|
| Stock # |
R6461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5073888-5082000 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5077768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 236
(T236A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025826]
|
| AlphaFold |
Q61672 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025826
AA Change: T236A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000025826
Gene: ENSMUSG00000024891
AA Change: T236A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
115 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
130 |
454 |
3.7e-117 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit normal adenosine uptake in erythrocytes and protection from acute lung injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
A |
10: 85,476,428 (GRCm39) |
I903N |
probably damaging |
Het |
| Atp12a |
C |
T |
14: 56,610,695 (GRCm39) |
R280C |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,855,964 (GRCm39) |
|
probably null |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,390 (GRCm39) |
E240G |
probably benign |
Het |
| Gne |
T |
C |
4: 44,060,078 (GRCm39) |
D105G |
probably damaging |
Het |
| Grin2c |
A |
T |
11: 115,146,522 (GRCm39) |
M494K |
possibly damaging |
Het |
| Hnrnpk |
A |
G |
13: 58,541,008 (GRCm39) |
|
probably null |
Het |
| Irf6 |
G |
C |
1: 192,849,779 (GRCm39) |
G234R |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,494,728 (GRCm39) |
F347L |
probably damaging |
Het |
| Mcfd2 |
G |
A |
17: 87,565,494 (GRCm39) |
T3I |
probably benign |
Het |
| Mon1b |
A |
G |
8: 114,365,170 (GRCm39) |
D166G |
probably damaging |
Het |
| Mup10 |
T |
A |
4: 60,538,078 (GRCm39) |
M4L |
unknown |
Het |
| Or13c7b |
T |
C |
4: 43,821,355 (GRCm39) |
E2G |
probably benign |
Het |
| Or2h1b |
C |
T |
17: 37,462,362 (GRCm39) |
C167Y |
probably damaging |
Het |
| Or51s1 |
T |
A |
7: 102,558,235 (GRCm39) |
R270S |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,828,587 (GRCm39) |
|
probably null |
Het |
| Pelp1 |
A |
T |
11: 70,287,132 (GRCm39) |
V522E |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,156,466 (GRCm39) |
D481G |
probably null |
Het |
| Scube1 |
G |
A |
15: 83,496,628 (GRCm39) |
T791I |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,604,373 (GRCm39) |
I748V |
possibly damaging |
Het |
| Smarca4 |
T |
A |
9: 21,590,316 (GRCm39) |
I1152N |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,183,822 (GRCm39) |
I1026V |
probably damaging |
Het |
| Tnxb |
G |
T |
17: 34,890,872 (GRCm39) |
R405L |
probably damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,827,234 (GRCm39) |
R900H |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,606,344 (GRCm39) |
K1639R |
probably damaging |
Het |
|
| Other mutations in Slc29a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01606:Slc29a2
|
APN |
19 |
5,077,467 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01727:Slc29a2
|
APN |
19 |
5,076,486 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03268:Slc29a2
|
APN |
19 |
5,074,531 (GRCm39) |
splice site |
probably benign |
|
|
R4050:Slc29a2
|
UTSW |
19 |
5,079,481 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4615:Slc29a2
|
UTSW |
19 |
5,079,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5186:Slc29a2
|
UTSW |
19 |
5,078,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5450:Slc29a2
|
UTSW |
19 |
5,079,303 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5512:Slc29a2
|
UTSW |
19 |
5,076,426 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6809:Slc29a2
|
UTSW |
19 |
5,079,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Slc29a2
|
UTSW |
19 |
5,076,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7671:Slc29a2
|
UTSW |
19 |
5,074,290 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8427:Slc29a2
|
UTSW |
19 |
5,080,448 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9366:Slc29a2
|
UTSW |
19 |
5,074,609 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGGTAAGCCTGCCACAG -3'
(R):5'- GCTCGTGGATCCAAAATGCTC -3'
Sequencing Primer
(F):5'- CACAGGGCTTAGGTTATGCAC -3'
(R):5'- TTGTTCAAGAGGAAACTGAACCAC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation