Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:Slc13a2'

507662

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, Nadc1, mNaDC-1

MMRRC Submission

044446-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6276 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

78397087-78422217 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

CGTTATCTGT to CGT at 78403480 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000001122 (fasta)

Gene Model

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

AlphaFold

Q9ES88

Predicted Effect

probably benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149865

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	T	A	11: 58,446,366	I94L	possibly damaging	Het
4931406P16Rik	A	T	7: 34,242,377	Y627*	probably null	Het
Actr3	A	T	1: 125,395,137	D364E	probably benign	Het
Adra2c	C	T	5: 35,280,079	T65I	probably damaging	Het
Agap2	T	A	10: 127,089,360		probably null	Het
Ager	T	C	17: 34,598,754	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,737,536	I288M	probably benign	Het
Arhgap45	A	T	10: 80,026,234	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043	Y426C	probably damaging	Het
Azi2	C	T	9: 118,049,338	T82I	probably damaging	Het
Baz2b	T	A	2: 59,948,223	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,301,340	I701S	probably damaging	Het
Cd55b	T	A	1: 130,418,166	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,634,190	E199G	probably benign	Het
Cntnap4	A	T	8: 112,752,289	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,604,514	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,164,568	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,846,586	E96G	probably benign	Het
Dscaml1	C	T	9: 45,668,160	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,502,124	G695C	probably damaging	Het
Erbb4	C	T	1: 68,560,576	R114H	probably damaging	Het
F2rl1	G	T	13: 95,513,938	Y145*	probably null	Het
Fam58b	T	C	11: 78,751,230	K145E	probably damaging	Het
Fsip2	A	T	2: 82,980,441	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,536,578		probably null	Het
Gm6811	T	A	17: 21,093,983		noncoding transcript	Het
Gm6811	T	G	17: 21,094,690		noncoding transcript	Het
H2-M1	G	A	17: 36,671,710	T86M	possibly damaging	Het
Hk2	T	C	6: 82,743,366	D170G	probably benign	Het
Hmcn1	C	T	1: 150,738,681	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,800,519	Y89*	probably null	Het
Itga1	T	C	13: 114,980,852	E871G	probably benign	Het
Kat6a	T	C	8: 22,939,405	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,921,063	A756E	probably benign	Het
Krt12	A	T	11: 99,421,902	C105*	probably null	Het
Lama1	G	A	17: 67,784,088		probably null	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lrrk1	A	G	7: 66,306,839		probably null	Het
Map2	T	C	1: 66,399,419	V34A	probably damaging	Het
Mroh6	A	G	15: 75,885,700	L487P	probably damaging	Het
Myo18b	A	T	5: 112,811,642	S1430T	probably benign	Het
Notch3	G	A	17: 32,154,749	T495I	probably benign	Het
Olfr391-ps	A	T	11: 73,799,403	M118K	probably damaging	Het
Palld	C	T	8: 61,513,423	A980T	probably damaging	Het
Paxip1	A	T	5: 27,761,668	I620N	probably damaging	Het
Pcdha6	A	G	18: 36,969,767		probably null	Het
Pcdhb11	G	A	18: 37,421,760	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,707,644	E139G	probably benign	Het
Pck1	T	C	2: 173,157,319	V426A	probably damaging	Het
Pck2	T	A	14: 55,542,624	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phactr3	G	A	2: 178,279,019	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,323,203		probably benign	Het
Prodh2	A	G	7: 30,506,651	H278R	probably benign	Het
Rspry1	T	A	8: 94,623,258	H91Q	probably damaging	Het
Smn1	A	G	13: 100,127,995	N78S	possibly damaging	Het
Spta1	T	A	1: 174,218,512	I1614N	probably damaging	Het
Syt17	T	C	7: 118,434,290	D165G	probably damaging	Het
Tbck	A	G	3: 132,743,005	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,629,753	F422L	probably benign	Het
Tex15	T	A	8: 33,577,189	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,318,020	E846G	probably benign	Het
Ttc41	T	C	10: 86,744,449	I753T	probably benign	Het
Vdac1	C	T	11: 52,376,482	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 21,260,179	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,184,295	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,490,731	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,921,110	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,451,470	A490S	possibly damaging	Het
Wdfy4	C	T	14: 33,109,525	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,395,604		probably null	Het
Zscan2	A	G	7: 80,875,809	N426S	probably benign	Het

Other mutations in Slc13a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Slc13a2	APN	11	78400548	missense	probably damaging	1.00
IGL01604:Slc13a2	APN	11	78403395	missense	possibly damaging	0.82
IGL01679:Slc13a2	APN	11	78404711	missense	probably damaging	1.00
IGL03100:Slc13a2	APN	11	78404473	missense	probably damaging	1.00
IGL03380:Slc13a2	APN	11	78399082	missense	probably benign	0.03
deliberate	UTSW	11	78403480	critical splice acceptor site	probably benign
Familiaris	UTSW	11	78404795	missense	probably damaging	1.00
intentional	UTSW	11	78404708	missense	probably damaging	1.00
R0085:Slc13a2	UTSW	11	78406868	missense	probably damaging	0.96
R0324:Slc13a2	UTSW	11	78404524	missense	probably damaging	1.00
R0368:Slc13a2	UTSW	11	78404800	nonsense	probably null
R0440:Slc13a2	UTSW	11	78403175	missense	probably benign	0.05
R0539:Slc13a2	UTSW	11	78399138	missense	probably damaging	1.00
R1519:Slc13a2	UTSW	11	78397746	missense	possibly damaging	0.59
R1550:Slc13a2	UTSW	11	78403164	missense	probably damaging	1.00
R1909:Slc13a2	UTSW	11	78400142	missense	possibly damaging	0.90
R2166:Slc13a2	UTSW	11	78403075	missense	probably benign	0.16
R2994:Slc13a2	UTSW	11	78404737	missense	probably damaging	1.00
R2998:Slc13a2	UTSW	11	78404785	missense	probably damaging	0.99
R3418:Slc13a2	UTSW	11	78400840	missense	probably benign	0.05
R3932:Slc13a2	UTSW	11	78398400	missense	probably damaging	1.00
R4233:Slc13a2	UTSW	11	78403535	intron	probably benign
R4462:Slc13a2	UTSW	11	78404387	missense	probably benign	0.44
R5014:Slc13a2	UTSW	11	78400161	missense	possibly damaging	0.73
R5170:Slc13a2	UTSW	11	78400808	missense	probably damaging	1.00
R5484:Slc13a2	UTSW	11	78404822	splice site	probably benign
R5809:Slc13a2	UTSW	11	78397821	missense	probably damaging	1.00
R5973:Slc13a2	UTSW	11	78400532	missense	probably damaging	0.99
R6243:Slc13a2	UTSW	11	78404708	missense	probably damaging	1.00
R6263:Slc13a2	UTSW	11	78403480	critical splice acceptor site	probably benign
R6275:Slc13a2	UTSW	11	78403480	critical splice acceptor site	probably benign
R6279:Slc13a2	UTSW	11	78403480	critical splice acceptor site	probably benign
R6280:Slc13a2	UTSW	11	78403480	critical splice acceptor site	probably benign
R6300:Slc13a2	UTSW	11	78403480	critical splice acceptor site	probably benign
R6305:Slc13a2	UTSW	11	78403480	critical splice acceptor site	probably benign
R6314:Slc13a2	UTSW	11	78403480	critical splice acceptor site	probably benign
R6673:Slc13a2	UTSW	11	78397831	missense	probably benign	0.12
R7138:Slc13a2	UTSW	11	78399124	missense	possibly damaging	0.76
R7382:Slc13a2	UTSW	11	78404795	missense	probably damaging	1.00
R7657:Slc13a2	UTSW	11	78398397	missense	probably damaging	0.99
R7791:Slc13a2	UTSW	11	78422064	critical splice donor site	probably null
R8027:Slc13a2	UTSW	11	78404756	missense	probably benign	0.00
R9091:Slc13a2	UTSW	11	78404432	missense	probably damaging	1.00
R9270:Slc13a2	UTSW	11	78404432	missense	probably damaging	1.00
R9484:Slc13a2	UTSW	11	78403407	missense	probably damaging	0.97
R9501:Slc13a2	UTSW	11	78400807	missense	probably damaging	1.00
R9783:Slc13a2	UTSW	11	78403351	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCATTTGTCACTCAGTGAG -3'
(R):5'- TAGGACCCTTCATTCCCAGC -3'

Sequencing Primer
(F):5'- AGAGTGCAAGCCCCCTTTTG -3'
(R):5'- TTCCCAGCAATCCAAGAGTTTG -3'

Posted On

2018-03-15