Mutagenetix > Incidental Mutation

Incidental Mutation 'R0440:Slc13a2'

46706

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

038641-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0440 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

78288102-78313107 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78294001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 254 (N254D)

Ref Sequence

ENSEMBL: ENSMUSP00000001122 (fasta)

Gene Model

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

AlphaFold

Q9ES88

Predicted Effect

probably benign
Transcript: ENSMUST00000001122
AA Change: N254D

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000001122
Gene: ENSMUSG00000001095
AA Change: N254D

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

0.0842

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,112,694 (GRCm39)	R30W	probably damaging	Het
Adam7	T	C	14: 68,748,305 (GRCm39)		probably null	Het
Agl	A	T	3: 116,552,455 (GRCm39)	L1158Q	probably damaging	Het
Akap9	T	C	5: 4,114,569 (GRCm39)	S66P	probably damaging	Het
Akr1c20	T	A	13: 4,537,207 (GRCm39)	D316V	probably benign	Het
App	C	A	16: 84,853,302 (GRCm39)	E259*	probably null	Het
Arhgef4	A	G	1: 34,784,529 (GRCm39)		probably null	Het
Armc9	G	A	1: 86,121,984 (GRCm39)		probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Btaf1	C	T	19: 36,964,053 (GRCm39)	P875S	probably damaging	Het
Cc2d1b	T	A	4: 108,483,013 (GRCm39)		probably null	Het
Ccar1	C	T	10: 62,616,236 (GRCm39)	V165I	possibly damaging	Het
Ccdc106	A	T	7: 5,063,244 (GRCm39)	I250F	probably damaging	Het
Ccny	T	C	18: 9,332,917 (GRCm39)	I205V	probably benign	Het
Cfap52	T	A	11: 67,844,914 (GRCm39)	I52L	probably benign	Het
Chd8	T	A	14: 52,442,283 (GRCm39)	T2096S	possibly damaging	Het
Clstn3	G	A	6: 124,428,372 (GRCm39)	T423I	probably damaging	Het
Col13a1	T	C	10: 61,703,262 (GRCm39)	D440G	possibly damaging	Het
Dclk3	G	A	9: 111,298,231 (GRCm39)	V592M	probably damaging	Het
Ddx31	A	T	2: 28,747,144 (GRCm39)	I208F	probably damaging	Het
Dlat	A	T	9: 50,556,419 (GRCm39)		probably null	Het
Eml4	T	C	17: 83,753,487 (GRCm39)		probably null	Het
Enpp2	T	A	15: 54,710,633 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,244,315 (GRCm39)	S38G	possibly damaging	Het
Gcnt1	G	A	19: 17,307,680 (GRCm39)	T15I	probably benign	Het
Gm21834	T	C	17: 58,049,121 (GRCm39)	T32A	possibly damaging	Het
Golga2	A	G	2: 32,192,945 (GRCm39)	D394G	probably damaging	Het
Gtf3c4	G	T	2: 28,730,181 (GRCm39)		probably null	Het
Igkv4-69	A	G	6: 69,261,253 (GRCm39)		probably benign	Het
Inpp5j	T	C	11: 3,451,150 (GRCm39)	R500G	possibly damaging	Het
Kif5b	A	T	18: 6,226,980 (GRCm39)		probably benign	Het
Klhl36	A	G	8: 120,603,290 (GRCm39)	E515G	probably damaging	Het
Lifr	C	T	15: 7,186,672 (GRCm39)	R59*	probably null	Het
Lrif1	A	T	3: 106,641,714 (GRCm39)	Q10L	possibly damaging	Het
Lrp8	A	G	4: 107,726,295 (GRCm39)	E908G	probably damaging	Het
Lrrc23	A	T	6: 124,747,667 (GRCm39)	D307E	probably benign	Het
Mpv17l	T	C	16: 13,762,583 (GRCm39)	F27L	probably damaging	Het
Mta3	C	T	17: 84,074,016 (GRCm39)	A76V	probably damaging	Het
Muc5ac	T	A	7: 141,345,771 (GRCm39)	Y202*	probably null	Het
Naprt	A	G	15: 75,762,918 (GRCm39)		probably benign	Het
Npr2	T	A	4: 43,650,315 (GRCm39)	V960D	probably damaging	Het
Oca2	A	T	7: 56,073,100 (GRCm39)	Y765F	probably benign	Het
Or2d2	A	T	7: 106,727,939 (GRCm39)	H220Q	probably benign	Het
Plxna2	T	A	1: 194,326,712 (GRCm39)	Y215*	probably null	Het
Prdm16	G	A	4: 154,561,084 (GRCm39)		probably benign	Het
Ptn	A	G	6: 36,721,432 (GRCm39)	S3P	probably benign	Het
Pus10	T	C	11: 23,623,331 (GRCm39)		probably benign	Het
Rad21	A	T	15: 51,831,754 (GRCm39)	D442E	probably benign	Het
Rmdn2	A	G	17: 79,975,384 (GRCm39)	H291R	probably damaging	Het
Rp1	A	G	1: 4,415,863 (GRCm39)	S1750P	probably damaging	Het
Samd4b	A	T	7: 28,107,585 (GRCm39)	I228N	probably benign	Het
Sdr9c7	G	T	10: 127,734,822 (GRCm39)		probably benign	Het
Slc16a8	T	A	15: 79,136,807 (GRCm39)	I132F	probably damaging	Het
Slc18b1	T	A	10: 23,694,976 (GRCm39)	Y274N	probably benign	Het
Slc45a2	A	T	15: 11,000,903 (GRCm39)	M1L	probably benign	Het
Smc1b	A	G	15: 84,996,874 (GRCm39)		probably benign	Het
Stab2	T	C	10: 86,785,792 (GRCm39)	S617G	probably benign	Het
Stk10	A	G	11: 32,554,190 (GRCm39)	M626V	probably damaging	Het
Synpo2l	T	G	14: 20,711,466 (GRCm39)	I385L	possibly damaging	Het
Tmprss11d	T	C	5: 86,486,671 (GRCm39)	Y73C	probably damaging	Het
Ttc21b	A	G	2: 66,066,726 (GRCm39)	V309A	probably benign	Het
Tubgcp6	A	G	15: 88,987,268 (GRCm39)	I1235T	probably benign	Het
Usp8	A	G	2: 126,567,310 (GRCm39)	I110V	probably benign	Het
Vps13c	G	A	9: 67,880,143 (GRCm39)	G3442S	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Zfp207	T	A	11: 80,286,333 (GRCm39)		probably benign	Het
Zfp748	A	C	13: 67,701,144 (GRCm39)		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
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
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'- TAACAGGGGCAGCATTCTGCAC -3'
(R):5'- GCATCTGCTACTCAGCCAGCATTG -3'

Sequencing Primer
(F):5'- ACTTGCAGCATGGTCCC -3'
(R):5'- ATTGGGGGCATTGCCAC -3'

Posted On

2013-06-11