Incidental Mutation 'R2166:Slc13a2'
| ID |
235502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc13a2
|
| Ensembl Gene |
ENSMUSG00000001095 |
| Gene Name |
solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 |
| Synonyms |
sodium/dicarboxylate co-transporter, mNaDC-1, Nadc1 |
| MMRRC Submission |
040169-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2166 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78288102-78313107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78293901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 287
(V287A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001122]
|
| AlphaFold |
Q9ES88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001122
AA Change: V287A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000001122
Gene: ENSMUSG00000001095
AA Change: V287A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_sulph_symp
|
6 |
560 |
7.1e-161 |
PFAM |
|
Pfam:CitMHS
|
45 |
164 |
3e-15 |
PFAM |
|
Pfam:CitMHS
|
203 |
499 |
1.5e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149865
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-coupled citrate transporter that is regulated by the chaperone activity of cyclophilin b. The encoded protein may play a role in the formation of kidney stones. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased Kreb cycle intermediates in the urine but otherwise have normal kidney function and response to ischemia-reperfusion injury and caloric restriction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,942,790 (GRCm39) |
T2761S |
probably benign |
Het |
| Cav1 |
A |
T |
6: 17,339,430 (GRCm39) |
I141F |
possibly damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,223,107 (GRCm39) |
F43L |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,565,898 (GRCm39) |
D39G |
possibly damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,579,513 (GRCm39) |
|
probably null |
Het |
| Il1b |
A |
T |
2: 129,206,968 (GRCm39) |
M264K |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,365,186 (GRCm39) |
Y38C |
probably damaging |
Het |
| Kcnb2 |
A |
C |
1: 15,781,540 (GRCm39) |
D804A |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,781,195 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,587,050 (GRCm39) |
|
probably null |
Het |
| Mef2a |
A |
G |
7: 66,915,870 (GRCm39) |
V144A |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,113,791 (GRCm39) |
M666T |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,607,363 (GRCm39) |
Y702F |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,888,230 (GRCm39) |
K73I |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Or8g21 |
G |
A |
9: 38,906,513 (GRCm39) |
Q73* |
probably null |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Plbd1 |
A |
G |
6: 136,590,788 (GRCm39) |
|
probably null |
Het |
| Ppp1r10 |
G |
T |
17: 36,241,481 (GRCm39) |
R752L |
unknown |
Het |
| Prep |
T |
C |
10: 44,968,751 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,045,632 (GRCm39) |
N2134S |
possibly damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,210,523 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rtkn2 |
T |
C |
10: 67,877,526 (GRCm39) |
S532P |
possibly damaging |
Het |
| Rtl1 |
T |
A |
12: 109,556,988 (GRCm39) |
H1617L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,711,649 (GRCm39) |
N956I |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,781,928 (GRCm39) |
K386E |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,369,930 (GRCm39) |
H789Y |
probably benign |
Het |
| Stk19 |
A |
G |
17: 35,051,486 (GRCm39) |
I23T |
possibly damaging |
Het |
| Tonsl |
A |
G |
15: 76,521,513 (GRCm39) |
I293T |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,190,128 (GRCm39) |
|
probably null |
Het |
| Trappc2l |
T |
A |
8: 123,339,901 (GRCm39) |
S44T |
probably benign |
Het |
| Tsr1 |
A |
G |
11: 74,798,280 (GRCm39) |
|
probably null |
Het |
| Ugdh |
A |
G |
5: 65,574,357 (GRCm39) |
|
probably benign |
Het |
| Unc119 |
A |
G |
11: 78,238,161 (GRCm39) |
|
probably null |
Het |
| Zkscan14 |
G |
A |
5: 145,132,944 (GRCm39) |
P196S |
probably benign |
Het |
| Zmat4 |
T |
C |
8: 24,392,152 (GRCm39) |
L36P |
probably damaging |
Het |
|
| Other mutations in Slc13a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Slc13a2
|
APN |
11 |
78,291,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01604:Slc13a2
|
APN |
11 |
78,294,221 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01679:Slc13a2
|
APN |
11 |
78,295,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03100:Slc13a2
|
APN |
11 |
78,295,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03380:Slc13a2
|
APN |
11 |
78,289,908 (GRCm39) |
missense |
probably benign |
0.03 |
|
deliberate
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Familiaris
|
UTSW |
11 |
78,295,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
intentional
|
UTSW |
11 |
78,295,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0085:Slc13a2
|
UTSW |
11 |
78,297,694 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0324:Slc13a2
|
UTSW |
11 |
78,295,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0368:Slc13a2
|
UTSW |
11 |
78,295,626 (GRCm39) |
nonsense |
probably null |
|
|
R0440:Slc13a2
|
UTSW |
11 |
78,294,001 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0539:Slc13a2
|
UTSW |
11 |
78,289,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1519:Slc13a2
|
UTSW |
11 |
78,288,572 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1550:Slc13a2
|
UTSW |
11 |
78,293,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Slc13a2
|
UTSW |
11 |
78,290,968 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2994:Slc13a2
|
UTSW |
11 |
78,295,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2998:Slc13a2
|
UTSW |
11 |
78,295,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3418:Slc13a2
|
UTSW |
11 |
78,291,666 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3932:Slc13a2
|
UTSW |
11 |
78,289,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4233:Slc13a2
|
UTSW |
11 |
78,294,361 (GRCm39) |
intron |
probably benign |
|
|
R4462:Slc13a2
|
UTSW |
11 |
78,295,213 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5014:Slc13a2
|
UTSW |
11 |
78,290,987 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5170:Slc13a2
|
UTSW |
11 |
78,291,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5484:Slc13a2
|
UTSW |
11 |
78,295,648 (GRCm39) |
splice site |
probably benign |
|
|
R5809:Slc13a2
|
UTSW |
11 |
78,288,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Slc13a2
|
UTSW |
11 |
78,291,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6243:Slc13a2
|
UTSW |
11 |
78,295,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6275:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6276:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6279:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6280:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6300:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6305:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6314:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6673:Slc13a2
|
UTSW |
11 |
78,288,657 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7138:Slc13a2
|
UTSW |
11 |
78,289,950 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7382:Slc13a2
|
UTSW |
11 |
78,295,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Slc13a2
|
UTSW |
11 |
78,289,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7791:Slc13a2
|
UTSW |
11 |
78,312,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8027:Slc13a2
|
UTSW |
11 |
78,295,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9091:Slc13a2
|
UTSW |
11 |
78,295,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9270:Slc13a2
|
UTSW |
11 |
78,295,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9484:Slc13a2
|
UTSW |
11 |
78,294,233 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9501:Slc13a2
|
UTSW |
11 |
78,291,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9783:Slc13a2
|
UTSW |
11 |
78,294,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACACGGCATGGTTTTCC -3'
(R):5'- AGGCAGTTTTAGGGTCACTG -3'
Sequencing Primer
(F):5'- GACTCATCTTGCCTGTCTGTTAACAG -3'
(R):5'- CAGTTTTAGGGTCACTGTTACAC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation