Mutagenetix > Incidental Mutation

Incidental Mutation 'R5164:Slc23a2'

395579

Institutional Source

Beutler Lab

Gene Symbol

Slc23a2

Ensembl Gene

ENSMUSG00000027340

Gene Name

solute carrier family 23 (nucleobase transporters), member 2

Synonyms

Slc23a1, SVCT2, YSPL3

MMRRC Submission

042745-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5164 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132052496-132145108 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 132075450 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028815]

AlphaFold

Q9EPR4

Predicted Effect

probably benign
Transcript: ENSMUST00000028815

SMART Domains

Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340

Domain	Start	End	E-Value	Type
Pfam:Xan_ur_permease	101	534	1.7e-93	PFAM
transmembrane domain	547	566	N/A	INTRINSIC
low complexity region	578	592	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154009

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (49/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within minutes of birth from respiratory distress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,435,674	H4637Q	probably benign	Het
Akap6	A	G	12: 53,142,466	H2221R	probably benign	Het
Arsj	A	T	3: 126,438,159	M185L	probably benign	Het
Ccdc177	T	C	12: 80,758,562	T313A	unknown	Het
Cdkal1	A	T	13: 29,625,719	L214H	probably damaging	Het
Cfap44	T	A	16: 44,481,389	I1830N	probably damaging	Het
Cfap65	T	C	1: 74,926,516	K445R	probably damaging	Het
Chrnb3	T	A	8: 27,394,132	I299N	probably damaging	Het
Cse1l	C	A	2: 166,944,428	D826E	probably benign	Het
Cwf19l2	T	C	9: 3,475,511	V816A	probably damaging	Het
Dnah5	A	T	15: 28,408,292	E3474D	probably benign	Het
Dock5	A	T	14: 67,817,661	Y585*	probably null	Het
Ebf2	T	C	14: 67,390,521	S322P	possibly damaging	Het
Epha8	T	C	4: 136,945,672	E267G	possibly damaging	Het
Fam126b	T	C	1: 58,535,438	T315A	probably benign	Het
Fkbp5	A	G	17: 28,437,990		probably null	Het
Gbp4	T	A	5: 105,136,877	K49*	probably null	Het
Gm13212	T	C	4: 145,622,205	Y71H	probably damaging	Het
Gramd4	A	T	15: 86,100,831	T98S	probably benign	Het
H2-Ke6	A	G	17: 34,026,978		probably benign	Het
Hectd1	C	A	12: 51,827,489	M1I	probably null	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Keg1	A	G	19: 12,714,680		probably benign	Het
Lilra6	A	T	7: 3,914,881	V88E	probably damaging	Het
Mast1	A	G	8: 84,913,518		probably benign	Het
Mdn1	A	G	4: 32,759,011		probably null	Het
Nrd1	C	T	4: 109,039,717	T511I	probably damaging	Het
Olfr1058	T	C	2: 86,385,471	T316A	probably benign	Het
Olfr1204	T	A	2: 88,852,570	L207I	probably benign	Het
Olfr478	G	A	7: 108,032,280	T21I	possibly damaging	Het
Pms1	A	G	1: 53,207,640	V301A	probably damaging	Het
Pnisr	A	T	4: 21,859,237	Q144L	possibly damaging	Het
Pp2d1	G	T	17: 53,508,070	T542K	probably benign	Het
Ppargc1b	A	T	18: 61,302,644	C922S	probably damaging	Het
Ptprd	T	C	4: 76,100,758		probably null	Het
Runx3	T	C	4: 135,121,130	S9P	possibly damaging	Het
Serpina1b	A	G	12: 103,732,087	S168P	probably benign	Het
Slc14a2	G	A	18: 78,157,272	A722V	probably damaging	Het
Slc47a1	A	G	11: 61,353,060		probably null	Het
Tcf20	A	G	15: 82,856,603	S216P	probably damaging	Het
Tpst1	T	A	5: 130,102,001	I104N	probably damaging	Het
Ttc25	G	A	11: 100,571,520	W506*	probably null	Het
Ufm1	A	C	3: 53,857,927		probably benign	Het
Unkl	A	G	17: 25,213,109		probably null	Het
Usf3	T	C	16: 44,218,180	S1008P	probably damaging	Het
Ythdf3	T	C	3: 16,183,513	V6A	possibly damaging	Het
Zc3h3	A	T	15: 75,777,026	S752R	probably benign	Het

Other mutations in Slc23a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Slc23a2	APN	2	132101500	missense	probably benign	0.00
IGL01123:Slc23a2	APN	2	132056816	missense	probably benign	0.02
IGL03115:Slc23a2	APN	2	132091265	missense	probably damaging	1.00
R0352:Slc23a2	UTSW	2	132060796	missense	probably benign	0.03
R0446:Slc23a2	UTSW	2	132078433	missense	probably benign	0.06
R0499:Slc23a2	UTSW	2	132072017	missense	probably damaging	1.00
R1252:Slc23a2	UTSW	2	132062197	splice site	probably null
R1663:Slc23a2	UTSW	2	132065464	missense	probably damaging	1.00
R1768:Slc23a2	UTSW	2	132075641	missense	probably benign
R1914:Slc23a2	UTSW	2	132056766	missense	probably damaging	0.99
R2277:Slc23a2	UTSW	2	132091259	missense	possibly damaging	0.54
R2326:Slc23a2	UTSW	2	132094195	missense	possibly damaging	0.72
R2385:Slc23a2	UTSW	2	132089201	missense	probably benign	0.01
R4049:Slc23a2	UTSW	2	132060683	missense	probably benign	0.00
R4084:Slc23a2	UTSW	2	132091217	nonsense	probably null
R4497:Slc23a2	UTSW	2	132056782	nonsense	probably null
R4710:Slc23a2	UTSW	2	132056709	missense	probably benign
R4873:Slc23a2	UTSW	2	132056880	missense	possibly damaging	0.75
R4875:Slc23a2	UTSW	2	132056880	missense	possibly damaging	0.75
R5008:Slc23a2	UTSW	2	132101494	missense	probably damaging	0.99
R5236:Slc23a2	UTSW	2	132075584	missense	probably damaging	0.97
R6587:Slc23a2	UTSW	2	132078481	missense	possibly damaging	0.70
R6738:Slc23a2	UTSW	2	132078436	missense	probably benign	0.10
R6960:Slc23a2	UTSW	2	132091253	missense	probably damaging	1.00
R7000:Slc23a2	UTSW	2	132094203	missense	possibly damaging	0.93
R7062:Slc23a2	UTSW	2	132091269	missense	probably damaging	0.99
R7293:Slc23a2	UTSW	2	132089106	missense	probably benign	0.02
R7324:Slc23a2	UTSW	2	132089123	missense	probably damaging	1.00
R8077:Slc23a2	UTSW	2	132089172	missense	possibly damaging	0.51
R8794:Slc23a2	UTSW	2	132060709	missense	probably benign	0.01
R8839:Slc23a2	UTSW	2	132101472	splice site	silent
R8882:Slc23a2	UTSW	2	132091239	missense	possibly damaging	0.82
R9129:Slc23a2	UTSW	2	132078412	critical splice donor site	probably null
R9252:Slc23a2	UTSW	2	132071922	missense	probably damaging	1.00
R9597:Slc23a2	UTSW	2	132062178	missense	probably damaging	1.00
R9728:Slc23a2	UTSW	2	132058210	missense	probably damaging	1.00
X0011:Slc23a2	UTSW	2	132091263	missense	possibly damaging	0.64
X0018:Slc23a2	UTSW	2	132066806	missense	probably benign	0.30
Z1176:Slc23a2	UTSW	2	132060788	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTGCCTTTGGAACCACATGAG -3'
(R):5'- GGGGCTATCATCATGTCCTC -3'

Sequencing Primer
(F):5'- TGGAACCACATGAGCTTTACCATG -3'
(R):5'- CATGTCCTCACTGATAGAAGTGGTC -3'

Posted On

2016-06-21