Mutagenetix > Incidental Mutation

Incidental Mutation 'R4084:Slc23a2'

317005

Institutional Source

Beutler Lab

Gene Symbol

Slc23a2

Ensembl Gene

ENSMUSG00000027340

Gene Name

solute carrier family 23 (nucleobase transporters), member 2

Synonyms

YSPL3, SVCT2, Slc23a1

MMRRC Submission

040857-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4084 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131894416-131987028 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 131933137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 107 (L107*)

Ref Sequence

ENSEMBL: ENSMUSP00000028815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028815] [ENSMUST00000128899]

AlphaFold

Q9EPR4

Predicted Effect

probably null
Transcript: ENSMUST00000028815
AA Change: L107*

SMART Domains

Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: L107*

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

probably benign
Transcript: ENSMUST00000128899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133407

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl2	A	T	9: 102,601,884 (GRCm39)		probably null	Het
Arhgdig	T	C	17: 26,418,799 (GRCm39)	D114G	possibly damaging	Het
Btnl1	C	T	17: 34,600,133 (GRCm39)	T212I	possibly damaging	Het
Camkk1	C	T	11: 72,928,691 (GRCm39)	T410I	probably damaging	Het
Capn13	C	T	17: 73,644,444 (GRCm39)	G362R	probably benign	Het
Catsperd	A	G	17: 56,961,453 (GRCm39)	T392A	probably benign	Het
Ccdc180	A	G	4: 45,950,632 (GRCm39)	I1626V	probably benign	Het
Cdon	C	A	9: 35,389,427 (GRCm39)	T844K	probably damaging	Het
Col28a1	G	A	6: 8,013,131 (GRCm39)	Q974*	probably null	Het
Col28a1	C	G	6: 8,013,132 (GRCm39)	K973N	possibly damaging	Het
Dnhd1	T	C	7: 105,358,795 (GRCm39)	L3428P	probably damaging	Het
Ecm1	A	T	3: 95,641,676 (GRCm39)	N519K	probably damaging	Het
Fbxw11	T	C	11: 32,689,248 (GRCm39)	V457A	probably damaging	Het
Flna	C	T	X: 73,280,531 (GRCm39)	V1009M	possibly damaging	Het
Fmnl2	A	T	2: 52,997,507 (GRCm39)	K486I	possibly damaging	Het
Gja1	A	C	10: 56,264,607 (GRCm39)	Q322P	possibly damaging	Het
Gtpbp3	A	G	8: 71,943,156 (GRCm39)	Q189R	probably benign	Het
H2-Eb1	T	C	17: 34,533,417 (GRCm39)	V213A	probably damaging	Het
Herc4	G	T	10: 63,119,016 (GRCm39)	G322V	probably damaging	Het
Hgf	G	T	5: 16,820,856 (GRCm39)	G668*	probably null	Het
Htra1	T	C	7: 130,538,074 (GRCm39)	S25P	probably benign	Het
Ifi44	A	G	3: 151,451,126 (GRCm39)		probably null	Het
Klhl24	T	A	16: 19,933,312 (GRCm39)	S308T	probably damaging	Het
Lamb2	A	G	9: 108,365,217 (GRCm39)	N1291S	probably benign	Het
Lgals9	A	T	11: 78,860,589 (GRCm39)	F162Y	possibly damaging	Het
Lig3	T	A	11: 82,686,250 (GRCm39)	I634N	probably damaging	Het
Lipn	T	C	19: 34,056,340 (GRCm39)	F229L	probably benign	Het
Lmtk3	T	A	7: 45,442,716 (GRCm39)	S466R	probably damaging	Het
Lonrf2	G	A	1: 38,860,232 (GRCm39)	T22I	probably benign	Het
Macf1	T	C	4: 123,343,865 (GRCm39)	H2119R	probably damaging	Het
Muc6	C	T	7: 141,234,920 (GRCm39)	C634Y	probably damaging	Het
Nap1l1	G	A	10: 111,325,938 (GRCm39)	V86I	possibly damaging	Het
Noxred1	A	G	12: 87,280,258 (GRCm39)	Y25H	possibly damaging	Het
Nphp4	T	C	4: 152,573,248 (GRCm39)	L62P	probably damaging	Het
Or11h6	T	A	14: 50,880,305 (GRCm39)	I189N	probably damaging	Het
Or2b2	G	A	13: 21,887,238 (GRCm39)	W22*	probably null	Het
Or2b2	C	A	13: 21,887,239 (GRCm39)	L23M	probably damaging	Het
Or52ab4	T	G	7: 102,987,527 (GRCm39)	F89V	probably damaging	Het
Pcdh10	A	C	3: 45,347,142 (GRCm39)	D979A	probably damaging	Het
Pla2g4f	C	G	2: 120,142,806 (GRCm39)	Q101H	probably benign	Het
Ppp1r15b	T	C	1: 133,060,805 (GRCm39)	F441L	probably damaging	Het
Prkaca	C	A	8: 84,721,939 (GRCm39)	P309T	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ripor3	A	G	2: 167,826,386 (GRCm39)	Y720H	possibly damaging	Het
Rpgrip1	A	G	14: 52,386,808 (GRCm39)	E751G	possibly damaging	Het
Rsf1	GCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,126 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,731,253 (GRCm39)	S686P	probably damaging	Het
Seh1l	T	C	18: 67,921,860 (GRCm39)	V240A	possibly damaging	Het
Slc10a2	T	G	8: 5,139,126 (GRCm39)	I273L	possibly damaging	Het
Slc44a4	T	C	17: 35,136,323 (GRCm39)	L38P	probably damaging	Het
Slc6a18	C	T	13: 73,815,148 (GRCm39)	V387I	probably benign	Het
Slu7	G	A	11: 43,334,218 (GRCm39)	A415T	probably benign	Het
Tlr5	A	T	1: 182,802,413 (GRCm39)	R572S	possibly damaging	Het
Tmem45a2	C	T	16: 56,891,387 (GRCm39)	G3D	probably benign	Het
Trim24	A	G	6: 37,892,192 (GRCm39)	T242A	probably damaging	Het
Triobp	T	A	15: 78,857,871 (GRCm39)	N1157K	probably benign	Het
Ugt1a6a	A	T	1: 88,066,899 (GRCm39)	D235V	probably benign	Het
Vmn2r37	C	T	7: 9,218,984 (GRCm39)	V467I	probably benign	Het
Vmn2r7	C	T	3: 64,600,414 (GRCm39)	E495K	probably benign	Het
Vstm2a	A	G	11: 16,213,098 (GRCm39)	E161G	probably damaging	Het
Ypel3	T	C	7: 126,377,537 (GRCm39)	V74A	possibly damaging	Het
Zfp1005	T	A	2: 150,108,122 (GRCm39)	N27K	possibly damaging	Het
Zfp27	C	T	7: 29,594,792 (GRCm39)	R391H	possibly damaging	Het

Other mutations in Slc23a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Slc23a2	APN	2	131,943,420 (GRCm39)	missense	probably benign	0.00
IGL01123:Slc23a2	APN	2	131,898,736 (GRCm39)	missense	probably benign	0.02
IGL03115:Slc23a2	APN	2	131,933,185 (GRCm39)	missense	probably damaging	1.00
R0352:Slc23a2	UTSW	2	131,902,716 (GRCm39)	missense	probably benign	0.03
R0446:Slc23a2	UTSW	2	131,920,353 (GRCm39)	missense	probably benign	0.06
R0499:Slc23a2	UTSW	2	131,913,937 (GRCm39)	missense	probably damaging	1.00
R1252:Slc23a2	UTSW	2	131,904,117 (GRCm39)	splice site	probably null
R1663:Slc23a2	UTSW	2	131,907,384 (GRCm39)	missense	probably damaging	1.00
R1768:Slc23a2	UTSW	2	131,917,561 (GRCm39)	missense	probably benign
R1914:Slc23a2	UTSW	2	131,898,686 (GRCm39)	missense	probably damaging	0.99
R2277:Slc23a2	UTSW	2	131,933,179 (GRCm39)	missense	possibly damaging	0.54
R2326:Slc23a2	UTSW	2	131,936,115 (GRCm39)	missense	possibly damaging	0.72
R2385:Slc23a2	UTSW	2	131,931,121 (GRCm39)	missense	probably benign	0.01
R4049:Slc23a2	UTSW	2	131,902,603 (GRCm39)	missense	probably benign	0.00
R4497:Slc23a2	UTSW	2	131,898,702 (GRCm39)	nonsense	probably null
R4710:Slc23a2	UTSW	2	131,898,629 (GRCm39)	missense	probably benign
R4873:Slc23a2	UTSW	2	131,898,800 (GRCm39)	missense	possibly damaging	0.75
R4875:Slc23a2	UTSW	2	131,898,800 (GRCm39)	missense	possibly damaging	0.75
R5008:Slc23a2	UTSW	2	131,943,414 (GRCm39)	missense	probably damaging	0.99
R5164:Slc23a2	UTSW	2	131,917,370 (GRCm39)	intron	probably benign
R5236:Slc23a2	UTSW	2	131,917,504 (GRCm39)	missense	probably damaging	0.97
R6587:Slc23a2	UTSW	2	131,920,401 (GRCm39)	missense	possibly damaging	0.70
R6738:Slc23a2	UTSW	2	131,920,356 (GRCm39)	missense	probably benign	0.10
R6960:Slc23a2	UTSW	2	131,933,173 (GRCm39)	missense	probably damaging	1.00
R7000:Slc23a2	UTSW	2	131,936,123 (GRCm39)	missense	possibly damaging	0.93
R7062:Slc23a2	UTSW	2	131,933,189 (GRCm39)	missense	probably damaging	0.99
R7293:Slc23a2	UTSW	2	131,931,026 (GRCm39)	missense	probably benign	0.02
R7324:Slc23a2	UTSW	2	131,931,043 (GRCm39)	missense	probably damaging	1.00
R8077:Slc23a2	UTSW	2	131,931,092 (GRCm39)	missense	possibly damaging	0.51
R8794:Slc23a2	UTSW	2	131,902,629 (GRCm39)	missense	probably benign	0.01
R8839:Slc23a2	UTSW	2	131,943,392 (GRCm39)	splice site	silent
R8882:Slc23a2	UTSW	2	131,933,159 (GRCm39)	missense	possibly damaging	0.82
R9129:Slc23a2	UTSW	2	131,920,332 (GRCm39)	critical splice donor site	probably null
R9252:Slc23a2	UTSW	2	131,913,842 (GRCm39)	missense	probably damaging	1.00
R9597:Slc23a2	UTSW	2	131,904,098 (GRCm39)	missense	probably damaging	1.00
R9728:Slc23a2	UTSW	2	131,900,130 (GRCm39)	missense	probably damaging	1.00
X0011:Slc23a2	UTSW	2	131,933,183 (GRCm39)	missense	possibly damaging	0.64
X0018:Slc23a2	UTSW	2	131,908,726 (GRCm39)	missense	probably benign	0.30
Z1176:Slc23a2	UTSW	2	131,902,708 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCTGCTGTTCGGAAATTAATGTTG -3'
(R):5'- ACGGAGCTAACATCTTTCCGG -3'

Sequencing Primer
(F):5'- TGGAGTTCAGTTCCCAGAAC -3'
(R):5'- AACATCTTTCCGGGCAGTGACTAG -3'

Posted On

2015-05-15