Incidental Mutation 'R2385:Slc23a2'
ID |
247668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc23a2
|
Ensembl Gene |
ENSMUSG00000027340 |
Gene Name |
solute carrier family 23 (nucleobase transporters), member 2 |
Synonyms |
YSPL3, SVCT2, Slc23a1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2385 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
131894416-131987028 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 131931121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 126
(D126G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028815]
|
AlphaFold |
Q9EPR4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028815
AA Change: D126G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000028815 Gene: ENSMUSG00000027340 AA Change: D126G
Domain | Start | End | E-Value | Type |
Pfam:Xan_ur_permease
|
101 |
534 |
1.7e-93 |
PFAM |
transmembrane domain
|
547 |
566 |
N/A |
INTRINSIC |
low complexity region
|
578 |
592 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127724
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133407
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene die within minutes of birth from respiratory distress. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abra |
T |
C |
15: 41,732,749 (GRCm39) |
T106A |
probably damaging |
Het |
Adgra3 |
A |
T |
5: 50,136,908 (GRCm39) |
I595N |
possibly damaging |
Het |
Aox3 |
A |
G |
1: 58,177,448 (GRCm39) |
E221G |
probably damaging |
Het |
Arpc1a |
T |
A |
5: 145,041,333 (GRCm39) |
|
probably null |
Het |
Cd180 |
A |
G |
13: 102,841,691 (GRCm39) |
T246A |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,816,261 (GRCm39) |
E672G |
probably damaging |
Het |
Cyp2d12 |
A |
T |
15: 82,442,696 (GRCm39) |
I380F |
probably benign |
Het |
Dock3 |
A |
T |
9: 106,868,324 (GRCm39) |
D653E |
probably damaging |
Het |
Fbxw22 |
A |
G |
9: 109,211,210 (GRCm39) |
S364P |
probably damaging |
Het |
Ift122 |
T |
C |
6: 115,889,483 (GRCm39) |
Y823H |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,936,819 (GRCm39) |
S1365P |
probably damaging |
Het |
Nol11 |
C |
T |
11: 107,080,032 (GRCm39) |
G18R |
probably benign |
Het |
Or8k3 |
A |
T |
2: 86,058,817 (GRCm39) |
L166* |
probably null |
Het |
Pde8a |
T |
G |
7: 80,932,740 (GRCm39) |
M134R |
probably benign |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Polr3gl |
A |
G |
3: 96,485,862 (GRCm39) |
F135L |
probably damaging |
Het |
Sdr16c6 |
T |
A |
4: 4,062,671 (GRCm39) |
I216F |
probably damaging |
Het |
Snx13 |
A |
T |
12: 35,169,792 (GRCm39) |
Y579F |
probably benign |
Het |
Vcan |
T |
C |
13: 89,837,568 (GRCm39) |
T1699A |
probably damaging |
Het |
|
Other mutations in Slc23a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00763:Slc23a2
|
APN |
2 |
131,943,420 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01123:Slc23a2
|
APN |
2 |
131,898,736 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03115:Slc23a2
|
APN |
2 |
131,933,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R0352:Slc23a2
|
UTSW |
2 |
131,902,716 (GRCm39) |
missense |
probably benign |
0.03 |
R0446:Slc23a2
|
UTSW |
2 |
131,920,353 (GRCm39) |
missense |
probably benign |
0.06 |
R0499:Slc23a2
|
UTSW |
2 |
131,913,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R1252:Slc23a2
|
UTSW |
2 |
131,904,117 (GRCm39) |
splice site |
probably null |
|
R1663:Slc23a2
|
UTSW |
2 |
131,907,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R1768:Slc23a2
|
UTSW |
2 |
131,917,561 (GRCm39) |
missense |
probably benign |
|
R1914:Slc23a2
|
UTSW |
2 |
131,898,686 (GRCm39) |
missense |
probably damaging |
0.99 |
R2277:Slc23a2
|
UTSW |
2 |
131,933,179 (GRCm39) |
missense |
possibly damaging |
0.54 |
R2326:Slc23a2
|
UTSW |
2 |
131,936,115 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4049:Slc23a2
|
UTSW |
2 |
131,902,603 (GRCm39) |
missense |
probably benign |
0.00 |
R4084:Slc23a2
|
UTSW |
2 |
131,933,137 (GRCm39) |
nonsense |
probably null |
|
R4497:Slc23a2
|
UTSW |
2 |
131,898,702 (GRCm39) |
nonsense |
probably null |
|
R4710:Slc23a2
|
UTSW |
2 |
131,898,629 (GRCm39) |
missense |
probably benign |
|
R4873:Slc23a2
|
UTSW |
2 |
131,898,800 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4875:Slc23a2
|
UTSW |
2 |
131,898,800 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5008:Slc23a2
|
UTSW |
2 |
131,943,414 (GRCm39) |
missense |
probably damaging |
0.99 |
R5164:Slc23a2
|
UTSW |
2 |
131,917,370 (GRCm39) |
intron |
probably benign |
|
R5236:Slc23a2
|
UTSW |
2 |
131,917,504 (GRCm39) |
missense |
probably damaging |
0.97 |
R6587:Slc23a2
|
UTSW |
2 |
131,920,401 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6738:Slc23a2
|
UTSW |
2 |
131,920,356 (GRCm39) |
missense |
probably benign |
0.10 |
R6960:Slc23a2
|
UTSW |
2 |
131,933,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R7000:Slc23a2
|
UTSW |
2 |
131,936,123 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7062:Slc23a2
|
UTSW |
2 |
131,933,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R7293:Slc23a2
|
UTSW |
2 |
131,931,026 (GRCm39) |
missense |
probably benign |
0.02 |
R7324:Slc23a2
|
UTSW |
2 |
131,931,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R8077:Slc23a2
|
UTSW |
2 |
131,931,092 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8794:Slc23a2
|
UTSW |
2 |
131,902,629 (GRCm39) |
missense |
probably benign |
0.01 |
R8839:Slc23a2
|
UTSW |
2 |
131,943,392 (GRCm39) |
splice site |
silent |
|
R8882:Slc23a2
|
UTSW |
2 |
131,933,159 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9129:Slc23a2
|
UTSW |
2 |
131,920,332 (GRCm39) |
critical splice donor site |
probably null |
|
R9252:Slc23a2
|
UTSW |
2 |
131,913,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R9597:Slc23a2
|
UTSW |
2 |
131,904,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R9728:Slc23a2
|
UTSW |
2 |
131,900,130 (GRCm39) |
missense |
probably damaging |
1.00 |
X0011:Slc23a2
|
UTSW |
2 |
131,933,183 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0018:Slc23a2
|
UTSW |
2 |
131,908,726 (GRCm39) |
missense |
probably benign |
0.30 |
Z1176:Slc23a2
|
UTSW |
2 |
131,902,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGGCCACTGGGATATGC -3'
(R):5'- AACTCGCGTAACTAGAGCGTC -3'
Sequencing Primer
(F):5'- TGGGATATGCTGTACCACCAACTG -3'
(R):5'- CGCGTAACTAGAGCGTCTTCATG -3'
|
Posted On |
2014-11-11 |