Incidental Mutation 'R6587:Slc23a2'
ID |
524459 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc23a2
|
Ensembl Gene |
ENSMUSG00000027340 |
Gene Name |
solute carrier family 23 (nucleobase transporters), member 2 |
Synonyms |
YSPL3, SVCT2, Slc23a1 |
MMRRC Submission |
044711-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6587 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
131894416-131987028 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 131920401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 168
(S168N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028815]
|
AlphaFold |
Q9EPR4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028815
AA Change: S168N
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000028815 Gene: ENSMUSG00000027340 AA Change: S168N
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: ENSMUST00000154009
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc2 |
TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
2: 25,162,550 (GRCm39) |
|
probably benign |
Het |
Ank3 |
G |
T |
10: 69,825,982 (GRCm39) |
|
probably benign |
Het |
Ano3 |
C |
A |
2: 110,628,249 (GRCm39) |
|
probably null |
Het |
Arhgap39 |
A |
G |
15: 76,621,699 (GRCm39) |
S301P |
probably damaging |
Het |
Atad2 |
G |
T |
15: 57,984,444 (GRCm39) |
Q295K |
probably benign |
Het |
Camkmt |
T |
C |
17: 85,421,243 (GRCm39) |
V115A |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,390,571 (GRCm39) |
E1087G |
probably damaging |
Het |
Cfhr2 |
T |
A |
1: 139,738,596 (GRCm39) |
I322F |
probably benign |
Het |
Chil6 |
T |
C |
3: 106,312,197 (GRCm39) |
M35V |
probably benign |
Het |
Cyp3a44 |
T |
C |
5: 145,742,569 (GRCm39) |
T11A |
probably benign |
Het |
Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
Ghitm |
A |
T |
14: 36,847,146 (GRCm39) |
Y309* |
probably null |
Het |
Klhl18 |
T |
C |
9: 110,284,494 (GRCm39) |
H64R |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,860,704 (GRCm39) |
K201R |
probably benign |
Het |
Lpar3 |
T |
C |
3: 145,946,918 (GRCm39) |
F199L |
probably damaging |
Het |
Mindy3 |
G |
A |
2: 12,352,927 (GRCm39) |
Q425* |
probably null |
Het |
Or5b114-ps1 |
A |
T |
19: 13,352,977 (GRCm39) |
Y217F |
unknown |
Het |
P2rx7 |
A |
C |
5: 122,802,613 (GRCm39) |
N207T |
probably damaging |
Het |
Pcdhb7 |
T |
G |
18: 37,477,156 (GRCm39) |
L764R |
probably benign |
Het |
Pgap6 |
G |
A |
17: 26,340,538 (GRCm39) |
V641I |
probably benign |
Het |
Sbf2 |
T |
C |
7: 110,040,182 (GRCm39) |
Y378C |
probably damaging |
Het |
Tmem260 |
A |
G |
14: 48,733,913 (GRCm39) |
|
probably null |
Het |
Tmprss15 |
T |
G |
16: 78,868,317 (GRCm39) |
L198F |
probably benign |
Het |
Tulp4 |
C |
T |
17: 6,282,146 (GRCm39) |
T725I |
possibly damaging |
Het |
Tut4 |
C |
A |
4: 108,336,646 (GRCm39) |
N123K |
probably benign |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zp3 |
A |
G |
5: 136,016,352 (GRCm39) |
D318G |
possibly 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 |
R2385:Slc23a2
|
UTSW |
2 |
131,931,121 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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'- GAGCATTCTAAGCTGCTTACG -3'
(R):5'- AACTAGTGGCTCCAGCTATGTG -3'
Sequencing Primer
(F):5'- CATTCTAAGCTGCTTACGGGATG -3'
(R):5'- GCTGTCAGAGGTCTTCACAGAG -3'
|
Posted On |
2018-06-22 |