Incidental Mutation 'R7791:Slc13a2'
| ID |
599891 |
| 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 |
045847-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7791 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78288102-78313107 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 78312890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001122]
|
| AlphaFold |
Q9ES88 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001122
|
| SMART Domains |
Protein: ENSMUSP00000001122
Gene: ENSMUSG00000001095
| 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 |
|
| 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 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
T |
13: 59,838,508 (GRCm39) |
M108K |
probably benign |
Het |
| AAdacl4fm3 |
A |
G |
4: 144,430,015 (GRCm39) |
S325P |
probably damaging |
Het |
| Adamts9 |
A |
T |
6: 92,849,366 (GRCm39) |
V1031D |
probably benign |
Het |
| Agap3 |
C |
T |
5: 24,681,411 (GRCm39) |
R122C |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,230,020 (GRCm39) |
|
probably null |
Het |
| Atp1a2 |
T |
A |
1: 172,103,782 (GRCm39) |
I950F |
probably benign |
Het |
| Bahcc1 |
T |
G |
11: 120,159,203 (GRCm39) |
H143Q |
probably damaging |
Het |
| Bcl7b |
T |
A |
5: 135,199,968 (GRCm39) |
D40E |
probably damaging |
Het |
| C9 |
C |
T |
15: 6,519,359 (GRCm39) |
R399C |
possibly damaging |
Het |
| Capn13 |
T |
C |
17: 73,689,883 (GRCm39) |
I43V |
possibly damaging |
Het |
| Ctcf |
A |
G |
8: 106,391,571 (GRCm39) |
T289A |
possibly damaging |
Het |
| Cux2 |
T |
C |
5: 122,005,162 (GRCm39) |
N1008S |
probably benign |
Het |
| Dst |
T |
A |
1: 34,193,673 (GRCm39) |
M294K |
probably damaging |
Het |
| Eml4 |
G |
T |
17: 83,781,135 (GRCm39) |
D778Y |
probably benign |
Het |
| Exoc3l4 |
A |
C |
12: 111,389,974 (GRCm39) |
D183A |
probably damaging |
Het |
| Eya4 |
A |
T |
10: 22,989,825 (GRCm39) |
S511T |
probably damaging |
Het |
| Fbrsl1 |
T |
C |
5: 110,595,885 (GRCm39) |
H50R |
probably benign |
Het |
| Gemin5 |
G |
A |
11: 58,015,819 (GRCm39) |
P1396S |
probably benign |
Het |
| Gnb4 |
A |
G |
3: 32,644,192 (GRCm39) |
F151L |
possibly damaging |
Het |
| Gnptab |
A |
G |
10: 88,276,084 (GRCm39) |
|
probably null |
Het |
| Gpbp1l1 |
T |
A |
4: 116,431,617 (GRCm39) |
W92R |
probably damaging |
Het |
| Gucy1b1 |
A |
T |
3: 81,942,704 (GRCm39) |
Y479* |
probably null |
Het |
| Htr3a |
T |
A |
9: 48,812,875 (GRCm39) |
Q188L |
possibly damaging |
Het |
| Ighv5-9-1 |
A |
G |
12: 113,700,165 (GRCm39) |
F18S |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,471,425 (GRCm39) |
T1004A |
probably damaging |
Het |
| Mansc4 |
G |
A |
6: 146,983,042 (GRCm39) |
L132F |
unknown |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mtor |
G |
T |
4: 148,547,397 (GRCm39) |
R460L |
probably benign |
Het |
| Mtus1 |
A |
T |
8: 41,536,417 (GRCm39) |
F433Y |
possibly damaging |
Het |
| Myoc |
T |
C |
1: 162,476,690 (GRCm39) |
Y465H |
probably damaging |
Het |
| N4bp1 |
A |
G |
8: 87,579,831 (GRCm39) |
V657A |
probably damaging |
Het |
| Ndufv1 |
A |
T |
19: 4,061,533 (GRCm39) |
|
probably null |
Het |
| Nectin1 |
T |
C |
9: 43,703,336 (GRCm39) |
I198T |
probably benign |
Het |
| Or10h1 |
T |
A |
17: 33,418,326 (GRCm39) |
C101* |
probably null |
Het |
| Or8g20 |
T |
C |
9: 39,396,177 (GRCm39) |
D124G |
probably damaging |
Het |
| Padi2 |
C |
T |
4: 140,644,907 (GRCm39) |
T47I |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,784,056 (GRCm39) |
I116N |
probably damaging |
Het |
| Pkdrej |
T |
A |
15: 85,700,132 (GRCm39) |
I1935L |
possibly damaging |
Het |
| Pnpla7 |
C |
A |
2: 24,942,078 (GRCm39) |
A1173D |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,788,304 (GRCm39) |
L593Q |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,372,402 (GRCm39) |
S231P |
possibly damaging |
Het |
| Spdl1 |
A |
G |
11: 34,704,304 (GRCm39) |
S510P |
possibly damaging |
Het |
| Tbxa2r |
G |
T |
10: 81,170,540 (GRCm39) |
*342L |
probably null |
Het |
| Tfrc |
A |
G |
16: 32,437,985 (GRCm39) |
K346R |
probably benign |
Het |
| Tmem52b |
A |
G |
6: 129,489,966 (GRCm39) |
|
probably benign |
Het |
| Tsc1 |
T |
C |
2: 28,571,960 (GRCm39) |
F844L |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,283,544 (GRCm39) |
N158S |
probably benign |
Het |
| Ulk4 |
C |
T |
9: 121,092,734 (GRCm39) |
E168K |
possibly damaging |
Het |
| Vgf |
T |
C |
5: 137,060,885 (GRCm39) |
L349P |
unknown |
Het |
| Vil1 |
T |
C |
1: 74,467,295 (GRCm39) |
Y681H |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,603,634 (GRCm39) |
*572R |
probably null |
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 |
|
R2166:Slc13a2
|
UTSW |
11 |
78,293,901 (GRCm39) |
missense |
probably benign |
0.16 |
|
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 |
|
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'- GCTTTCTGACCACAAACCAG -3'
(R):5'- ATGGTTAACACTCCTCTGGC -3'
Sequencing Primer
(F):5'- AGCAGGCTCCAAAGTGC -3'
(R):5'- CAGGCCACCTGCTGTGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation