Incidental Mutation 'R6738:Slc23a2'
ID |
530295 |
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 |
044856-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6738 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
131894416-131987028 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 131920356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 183
(D183G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028815]
|
AlphaFold |
Q9EPR4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028815
AA Change: D183G
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000028815 Gene: ENSMUSG00000027340 AA Change: D183G
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: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (55/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
Abl1 |
T |
C |
2: 31,684,586 (GRCm39) |
Y454H |
probably damaging |
Het |
Ambp |
A |
T |
4: 63,067,711 (GRCm39) |
D166E |
probably benign |
Het |
Amigo2 |
A |
G |
15: 97,143,345 (GRCm39) |
V359A |
possibly damaging |
Het |
Ankrd11 |
A |
T |
8: 123,618,660 (GRCm39) |
S1710T |
probably damaging |
Het |
Ankrd31 |
T |
C |
13: 97,040,635 (GRCm39) |
S1713P |
possibly damaging |
Het |
Arhgap45 |
A |
T |
10: 79,863,431 (GRCm39) |
K758M |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,199,515 (GRCm39) |
I304T |
possibly damaging |
Het |
C1ra |
A |
G |
6: 124,494,718 (GRCm39) |
Y327C |
probably damaging |
Het |
Ccdc73 |
C |
T |
2: 104,822,433 (GRCm39) |
S794L |
probably benign |
Het |
Cd24a |
A |
G |
10: 43,458,672 (GRCm39) |
N48D |
possibly damaging |
Het |
Col11a1 |
A |
G |
3: 113,906,116 (GRCm39) |
|
probably benign |
Het |
Cyp11b2 |
G |
A |
15: 74,725,363 (GRCm39) |
T252I |
possibly damaging |
Het |
Dlx2 |
A |
G |
2: 71,376,406 (GRCm39) |
Y111H |
probably benign |
Het |
Dsp |
T |
C |
13: 38,376,186 (GRCm39) |
S1324P |
possibly damaging |
Het |
Esyt3 |
A |
T |
9: 99,202,346 (GRCm39) |
F522I |
probably damaging |
Het |
Fam193b |
C |
T |
13: 55,698,174 (GRCm39) |
A45T |
probably benign |
Het |
Flnb |
A |
G |
14: 7,904,536 (GRCm38) |
T980A |
probably benign |
Het |
Gabrb2 |
G |
T |
11: 42,484,758 (GRCm39) |
A272S |
possibly damaging |
Het |
H2al2a |
G |
T |
2: 18,001,429 (GRCm39) |
Q86K |
possibly damaging |
Het |
Ikbkb |
T |
G |
8: 23,165,052 (GRCm39) |
I243L |
probably damaging |
Het |
Il18r1 |
A |
G |
1: 40,537,816 (GRCm39) |
E527G |
probably benign |
Het |
Krt35 |
A |
T |
11: 99,984,535 (GRCm39) |
V320D |
probably damaging |
Het |
Krt76 |
C |
T |
15: 101,795,913 (GRCm39) |
R419H |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,288,832 (GRCm39) |
Y3678F |
probably damaging |
Het |
Mab21l4 |
G |
A |
1: 93,087,707 (GRCm39) |
L49F |
probably benign |
Het |
Mnat1 |
T |
G |
12: 73,319,246 (GRCm39) |
S290A |
probably benign |
Het |
Mptx2 |
T |
C |
1: 173,102,422 (GRCm39) |
E89G |
probably benign |
Het |
Myom1 |
T |
A |
17: 71,407,393 (GRCm39) |
|
probably null |
Het |
Naaladl2 |
A |
G |
3: 24,225,806 (GRCm39) |
V541A |
probably benign |
Het |
Nbeal2 |
T |
C |
9: 110,465,973 (GRCm39) |
T851A |
possibly damaging |
Het |
Ncoa4 |
A |
G |
14: 31,892,750 (GRCm39) |
Y11C |
probably benign |
Het |
Ntn5 |
T |
A |
7: 45,343,780 (GRCm39) |
|
probably null |
Het |
Or10d4c |
A |
G |
9: 39,557,957 (GRCm39) |
|
probably benign |
Het |
Or1j18 |
C |
T |
2: 36,624,444 (GRCm39) |
T37I |
probably benign |
Het |
Otop2 |
A |
G |
11: 115,220,318 (GRCm39) |
Y386C |
probably damaging |
Het |
Ppp2r1a |
T |
A |
17: 21,174,979 (GRCm39) |
|
probably null |
Het |
Prkd2 |
C |
A |
7: 16,599,830 (GRCm39) |
N764K |
possibly damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,809,512 (GRCm39) |
L421S |
probably damaging |
Het |
Ric3 |
G |
A |
7: 108,647,269 (GRCm39) |
R184* |
probably null |
Het |
Sfswap |
A |
G |
5: 129,618,505 (GRCm39) |
K480E |
probably damaging |
Het |
Siah2 |
A |
G |
3: 58,598,974 (GRCm39) |
V88A |
probably benign |
Het |
Slc22a16 |
T |
C |
10: 40,461,298 (GRCm39) |
F367L |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,123,180 (GRCm39) |
N712S |
possibly damaging |
Het |
Tex21 |
A |
G |
12: 76,286,283 (GRCm39) |
V72A |
probably benign |
Het |
Tfap4 |
A |
G |
16: 4,367,311 (GRCm39) |
Y184H |
probably damaging |
Het |
Timeless |
T |
C |
10: 128,076,504 (GRCm39) |
Y138H |
probably damaging |
Het |
Tln2 |
A |
T |
9: 67,293,946 (GRCm39) |
N227K |
possibly damaging |
Het |
Trip10 |
C |
T |
17: 57,563,899 (GRCm39) |
P342S |
probably benign |
Het |
Ttc6 |
A |
T |
12: 57,735,426 (GRCm39) |
E1156V |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,728,472 (GRCm39) |
|
probably benign |
Het |
Vmn2r109 |
G |
A |
17: 20,774,785 (GRCm39) |
S190L |
possibly damaging |
Het |
Wdr54 |
A |
G |
6: 83,132,109 (GRCm39) |
S99P |
probably damaging |
Het |
Ythdf2 |
A |
C |
4: 131,932,272 (GRCm39) |
I296R |
probably benign |
Het |
Zfp445 |
A |
G |
9: 122,691,123 (GRCm39) |
V24A |
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 |
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 |
R6587:Slc23a2
|
UTSW |
2 |
131,920,401 (GRCm39) |
missense |
possibly damaging |
0.70 |
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'- ACAGACTGGAGCATTCTAAGCTG -3'
(R):5'- ACTAGTGGCTCCAGCTATGTG -3'
Sequencing Primer
(F):5'- GACTGGAGCATTCTAAGCTGCTTAC -3'
(R):5'- CTGTCAGAGGTCTTCACAGAG -3'
|
Posted On |
2018-08-01 |