Incidental Mutation 'R9597:Slc23a2'
| ID |
723323 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9597 (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 A
at 131904098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 454
(R454L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028815]
|
| AlphaFold |
Q9EPR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028815
AA Change: R454L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: R454L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,578,813 (GRCm39) |
E952G |
possibly damaging |
Het |
| Abhd12 |
T |
C |
2: 150,688,198 (GRCm39) |
I170V |
probably benign |
Het |
| Ankmy1 |
A |
G |
1: 92,804,773 (GRCm39) |
V840A |
|
Het |
| Arhgap18 |
T |
A |
10: 26,788,655 (GRCm39) |
V589D |
probably damaging |
Het |
| Armc7 |
A |
G |
11: 115,379,712 (GRCm39) |
T137A |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,117,323 (GRCm39) |
I457K |
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 58,893,397 (GRCm39) |
Y78N |
probably benign |
Het |
| Ccdc24 |
A |
G |
4: 117,729,348 (GRCm39) |
V43A |
probably damaging |
Het |
| Cep68 |
G |
A |
11: 20,188,506 (GRCm39) |
T633I |
probably benign |
Het |
| Cfap157 |
T |
C |
2: 32,669,753 (GRCm39) |
I277V |
probably benign |
Het |
| Clec4a2 |
C |
A |
6: 123,116,291 (GRCm39) |
A152E |
probably benign |
Het |
| Crocc2 |
G |
T |
1: 93,118,217 (GRCm39) |
C380F |
probably benign |
Het |
| Cyp2ab1 |
A |
T |
16: 20,135,340 (GRCm39) |
M54K |
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,187,906 (GRCm39) |
R1541L |
probably benign |
Het |
| Fem1c |
G |
T |
18: 46,638,362 (GRCm39) |
L547I |
probably damaging |
Het |
| Firrm |
A |
T |
1: 163,804,340 (GRCm39) |
L331Q |
probably null |
Het |
| Fras1 |
A |
G |
5: 96,888,551 (GRCm39) |
D2699G |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,816,149 (GRCm39) |
V460A |
probably benign |
Het |
| Krt81 |
T |
C |
15: 101,358,919 (GRCm39) |
I278V |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,260,703 (GRCm39) |
E4509D |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,064,302 (GRCm39) |
D86N |
possibly damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,646 (GRCm39) |
I626V |
probably benign |
Het |
| Neto1 |
T |
C |
18: 86,422,821 (GRCm39) |
S93P |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,027,009 (GRCm39) |
R65S |
probably benign |
Het |
| Or52e8 |
A |
G |
7: 104,624,413 (GRCm39) |
F264L |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,877,197 (GRCm39) |
T251A |
possibly damaging |
Het |
| Pramel15 |
A |
T |
4: 144,103,526 (GRCm39) |
V200E |
probably damaging |
Het |
| Prdm14 |
T |
C |
1: 13,192,657 (GRCm39) |
K361E |
possibly damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,826 (GRCm39) |
F125L |
probably damaging |
Het |
| Scd2 |
C |
A |
19: 44,288,246 (GRCm39) |
Q213K |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,812,270 (GRCm39) |
D31G |
unknown |
Het |
| Spata7 |
T |
A |
12: 98,600,559 (GRCm39) |
N57K |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,599,897 (GRCm39) |
M1983V |
unknown |
Het |
| Srcap |
G |
T |
7: 127,121,219 (GRCm39) |
R184L |
possibly damaging |
Het |
| Tafa4 |
A |
G |
6: 96,991,429 (GRCm39) |
W7R |
probably benign |
Het |
| Tbpl2 |
A |
G |
2: 23,977,296 (GRCm39) |
S241P |
probably damaging |
Het |
| Tcaim |
A |
G |
9: 122,637,830 (GRCm39) |
|
probably null |
Het |
| Tep1 |
G |
T |
14: 51,100,465 (GRCm39) |
A351E |
probably damaging |
Het |
| Tiparp |
A |
G |
3: 65,438,701 (GRCm39) |
T6A |
probably benign |
Het |
| Tmem62 |
T |
C |
2: 120,829,567 (GRCm39) |
F437L |
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,396,714 (GRCm39) |
H434Q |
probably benign |
Het |
| Vmn2r17 |
A |
G |
5: 109,575,669 (GRCm39) |
Y180C |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,904,719 (GRCm39) |
Y373* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
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 |
|
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 |
|
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'- GTGTCTGCCAACCTGAAGAC -3'
(R):5'- ACCTGTTCACAGCTGAAACAGTG -3'
Sequencing Primer
(F):5'- CAGCACGTGATGGTAAACTGCTAC -3'
(R):5'- TTCACAGCTGAAACAGTGAACTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation