Incidental Mutation 'R8839:Slc23a2'
| ID |
700857 |
| 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 |
068667-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8839 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
131894416-131987028 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 131943392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028815]
[ENSMUST00000128899]
|
| AlphaFold |
Q9EPR4 |
| Predicted Effect |
silent
Transcript: ENSMUST00000028815
|
| SMART Domains |
Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
| 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 |
silent
Transcript: ENSMUST00000128899
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,889,194 (GRCm39) |
Y475H |
probably damaging |
Het |
| Ankfy1 |
T |
C |
11: 72,621,392 (GRCm39) |
I226T |
probably benign |
Het |
| Anln |
G |
A |
9: 22,267,468 (GRCm39) |
S825L |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,974 (GRCm39) |
Y325H |
probably damaging |
Het |
| Arb2a |
A |
T |
13: 78,147,781 (GRCm39) |
H283L |
probably benign |
Het |
| B3galt4 |
A |
G |
17: 34,169,867 (GRCm39) |
S124P |
possibly damaging |
Het |
| Cabin1 |
T |
C |
10: 75,492,650 (GRCm39) |
I1882V |
probably benign |
Het |
| Caprin2 |
A |
T |
6: 148,774,525 (GRCm39) |
S262R |
probably benign |
Het |
| Csmd2 |
A |
C |
4: 128,336,681 (GRCm39) |
I1420L |
|
Het |
| Cyp2b9 |
T |
G |
7: 25,900,185 (GRCm39) |
V331G |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,045,896 (GRCm39) |
M433L |
probably benign |
Het |
| Edrf1 |
A |
G |
7: 133,255,644 (GRCm39) |
D597G |
probably benign |
Het |
| Emc3 |
G |
A |
6: 113,496,931 (GRCm39) |
R147C |
possibly damaging |
Het |
| Fkbp7 |
T |
C |
2: 76,497,581 (GRCm39) |
|
probably benign |
Het |
| Flii |
T |
C |
11: 60,609,433 (GRCm39) |
T665A |
possibly damaging |
Het |
| Fxr1 |
A |
G |
3: 34,100,831 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
T |
G |
6: 25,669,369 (GRCm39) |
I492L |
probably benign |
Het |
| Hmg20b |
A |
C |
10: 81,184,749 (GRCm39) |
W108G |
probably damaging |
Het |
| Ighv9-3 |
G |
A |
12: 114,104,385 (GRCm39) |
T93I |
possibly damaging |
Het |
| Inpp5a |
T |
C |
7: 138,969,349 (GRCm39) |
V15A |
probably benign |
Het |
| Inpp5d |
T |
A |
1: 87,619,433 (GRCm39) |
Y376N |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,931,122 (GRCm39) |
F854L |
probably benign |
Het |
| Ipo7 |
A |
T |
7: 109,641,223 (GRCm39) |
K314N |
probably damaging |
Het |
| Ltn1 |
C |
A |
16: 87,215,390 (GRCm39) |
C415F |
probably damaging |
Het |
| Mfsd9 |
T |
C |
1: 40,813,554 (GRCm39) |
T254A |
probably benign |
Het |
| Musk |
A |
G |
4: 58,286,151 (GRCm39) |
T14A |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 27,005,730 (GRCm39) |
V1438A |
|
Het |
| Nnt |
A |
T |
13: 119,494,173 (GRCm39) |
V636D |
unknown |
Het |
| Or10ak14 |
A |
G |
4: 118,611,411 (GRCm39) |
L110P |
probably damaging |
Het |
| Or11h23 |
A |
T |
14: 50,947,957 (GRCm39) |
T57S |
possibly damaging |
Het |
| Or52ae9 |
A |
G |
7: 103,390,021 (GRCm39) |
I142T |
probably benign |
Het |
| Ost4 |
T |
C |
5: 31,064,935 (GRCm39) |
|
probably benign |
Het |
| Pdzph1 |
T |
C |
17: 59,257,237 (GRCm39) |
T934A |
probably benign |
Het |
| Plekhn1 |
T |
A |
4: 156,307,046 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
T |
C |
12: 50,389,616 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
A |
T |
13: 63,689,038 (GRCm39) |
L413Q |
probably damaging |
Het |
| S100pbp |
A |
G |
4: 129,076,000 (GRCm39) |
|
probably null |
Het |
| Sec23a |
T |
C |
12: 59,037,781 (GRCm39) |
K361E |
possibly damaging |
Het |
| Sema3b |
C |
T |
9: 107,478,552 (GRCm39) |
|
probably benign |
Het |
| Serpina3g |
A |
G |
12: 104,204,038 (GRCm39) |
|
probably benign |
Het |
| Smug1 |
T |
C |
15: 103,064,247 (GRCm39) |
R225G |
possibly damaging |
Het |
| Srbd1 |
T |
A |
17: 86,295,849 (GRCm39) |
I854L |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,047,474 (GRCm39) |
R417C |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,681,827 (GRCm39) |
Y384H |
probably damaging |
Het |
| Trappc9 |
T |
A |
15: 72,930,087 (GRCm39) |
K90* |
probably null |
Het |
| Tubgcp6 |
A |
T |
15: 88,987,681 (GRCm39) |
H1097Q |
possibly damaging |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,415 (GRCm39) |
L72P |
probably damaging |
Het |
| Vmn2r20 |
A |
T |
6: 123,373,515 (GRCm39) |
H442Q |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,595,489 (GRCm39) |
Y398* |
probably null |
Het |
| Zfhx4 |
A |
G |
3: 5,466,915 (GRCm39) |
T2383A |
probably benign |
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 |
|
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'- CTTCCTGGGTTAACTCAAGCAG -3'
(R):5'- TCTAAGACTCCAGTGTCCCTG -3'
Sequencing Primer
(F):5'- TGGGTTAACTCAAGCAGGTCCC -3'
(R):5'- GGTCTTAAACTCCTGGCTTGACTAAG -3'
|
| Posted On |
2022-02-11 |
Incidental Mutation