Incidental Mutation 'R8027:Slc13a2'
| ID |
617780 |
| 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 |
067466-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8027 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78288102-78313107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78295582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 95
(M95L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001122]
|
| AlphaFold |
Q9ES88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001122
AA Change: M95L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000001122
Gene: ENSMUSG00000001095
AA Change: M95L
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
C |
T |
3: 40,888,158 (GRCm39) |
T334I |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,272,574 (GRCm39) |
N527S |
probably damaging |
Het |
| Aldh5a1 |
A |
T |
13: 25,110,093 (GRCm39) |
Y147* |
probably null |
Het |
| Astn2 |
A |
C |
4: 65,459,208 (GRCm39) |
V1121G |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,747,809 (GRCm39) |
Y364N |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,906,962 (GRCm39) |
L685H |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,024,046 (GRCm39) |
L248P |
possibly damaging |
Het |
| Calcoco2 |
A |
T |
11: 95,991,241 (GRCm39) |
|
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,543,215 (GRCm39) |
L241P |
probably damaging |
Het |
| Fam107a |
A |
T |
14: 8,298,813 (GRCm38) |
|
probably benign |
Het |
| Fam161a |
A |
T |
11: 22,970,125 (GRCm39) |
K101M |
probably damaging |
Het |
| Fancd2 |
C |
T |
6: 113,523,583 (GRCm39) |
T240I |
probably damaging |
Het |
| Fbxl8 |
C |
T |
8: 105,994,758 (GRCm39) |
T90I |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,790,983 (GRCm39) |
V998A |
probably benign |
Het |
| Fut1 |
G |
A |
7: 45,268,289 (GRCm39) |
G81E |
probably damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,331 (GRCm39) |
V285A |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,221,722 (GRCm39) |
T116A |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,279,727 (GRCm39) |
E145G |
probably benign |
Het |
| Grik1 |
T |
G |
16: 87,732,893 (GRCm39) |
T660P |
|
Het |
| Gzmk |
T |
A |
13: 113,308,434 (GRCm39) |
K256* |
probably null |
Het |
| Hsp90b1 |
A |
G |
10: 86,532,594 (GRCm39) |
S361P |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,292,397 (GRCm39) |
S645P |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,275,678 (GRCm39) |
V329A |
probably benign |
Het |
| Leng8 |
CT |
C |
7: 4,145,855 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
A |
3: 86,325,219 (GRCm39) |
D1892E |
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,329,976 (GRCm39) |
S101P |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,181,164 (GRCm39) |
D145G |
possibly damaging |
Het |
| Nudt9 |
T |
A |
5: 104,212,793 (GRCm39) |
|
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,629 (GRCm39) |
I118F |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,069 (GRCm39) |
S688P |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,081,150 (GRCm39) |
M17T |
probably benign |
Het |
| Psg29 |
G |
A |
7: 16,942,565 (GRCm39) |
V189M |
possibly damaging |
Het |
| Ptprm |
T |
C |
17: 67,251,200 (GRCm39) |
Y559C |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,015,694 (GRCm39) |
Q290R |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,462,856 (GRCm39) |
Y1060C |
probably damaging |
Het |
| Sh3pxd2b |
C |
T |
11: 32,372,210 (GRCm39) |
T459M |
probably benign |
Het |
| Skint4 |
G |
T |
4: 112,015,182 (GRCm39) |
|
probably null |
Het |
| Skint8 |
T |
A |
4: 111,785,936 (GRCm39) |
D127E |
probably benign |
Het |
| Slc5a2 |
A |
G |
7: 127,869,718 (GRCm39) |
M384V |
probably damaging |
Het |
| Timd5 |
T |
C |
11: 46,428,744 (GRCm39) |
I222T |
probably benign |
Het |
| Tmem198 |
A |
T |
1: 75,456,706 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,727,060 (GRCm39) |
I5835T |
unknown |
Het |
| Tulp3 |
T |
C |
6: 128,311,436 (GRCm39) |
D73G |
probably benign |
Het |
| Ube2e2 |
A |
C |
14: 18,574,317 (GRCm38) |
W195G |
possibly damaging |
Het |
| Utp25 |
A |
G |
1: 192,800,530 (GRCm39) |
V430A |
probably benign |
Het |
| Wwp2 |
C |
A |
8: 108,282,109 (GRCm39) |
H768N |
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 |
|
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 |
|
R7791:Slc13a2
|
UTSW |
11 |
78,312,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- CTGTGTTGCTGATCCACATG -3'
(R):5'- TTTGGTTCTGAGGTCCCAAG -3'
Sequencing Primer
(F):5'- GGCTGTGACCAACATGAAGCC -3'
(R):5'- TCCCAAGGGAATGCCAATTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation