Mutagenetix > Incidental Mutation

Incidental Mutation 'R6673:Slc13a2'

527196

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

044793-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6673 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78288102-78313107 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78288657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 540 (I540F)

Ref Sequence

ENSEMBL: ENSMUSP00000001122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001122]

AlphaFold

Q9ES88

Predicted Effect

probably benign
Transcript: ENSMUST00000001122
AA Change: I540F

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000001122
Gene: ENSMUSG00000001095
AA Change: I540F

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armh4	T	A	14: 50,008,049 (GRCm39)	M475L	probably benign	Het
Cenpb	A	T	2: 131,021,165 (GRCm39)	L211H	probably damaging	Het
Ckmt1	C	T	2: 121,190,151 (GRCm39)	P82S	probably damaging	Het
Cspg4b	C	T	13: 113,504,366 (GRCm39)	Q1832*	probably null	Het
Fbxo38	A	G	18: 62,666,986 (GRCm39)	C138R	probably damaging	Het
Hkdc1	A	G	10: 62,239,385 (GRCm39)	V306A	probably damaging	Het
Mecom	T	C	3: 30,034,851 (GRCm39)	N275S	probably benign	Het
Mpdz	T	C	4: 81,274,667 (GRCm39)	D185G	probably benign	Het
Prtg	T	A	9: 72,758,964 (GRCm39)	N439K	probably damaging	Het
Rsf1	GGCGGCGG	GGCGGCGGGGGCGGCGG	7: 97,229,125 (GRCm39)		probably benign	Het
Serpina3b	A	G	12: 104,096,928 (GRCm39)	N70D	probably damaging	Het
Shc1	T	C	3: 89,329,269 (GRCm39)	S38P	possibly damaging	Het
Tmem33	T	C	5: 67,443,468 (GRCm39)	V215A	probably benign	Het
Trappc8	A	G	18: 21,018,314 (GRCm39)	V53A	probably benign	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,707,084 (GRCm39)		probably benign	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
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'- ATGATTTCGCATGCGCCAG -3'
(R):5'- ACTTTCCCTGTTAGGATCAGTC -3'

Sequencing Primer
(F):5'- AGCGGCTTTTCCCCTAGCAG -3'
(R):5'- CCCTGTTAGGATCAGTCAAATAAGAG -3'

Posted On

2018-07-23