Mutagenetix > Incidental Mutation

Incidental Mutation 'R5008:Slc23a2'

390265

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

042599-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5008 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131894416-131987028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131943414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 29 (H29R)

Ref Sequence

ENSEMBL: ENSMUSP00000116640 (fasta)

Gene Model

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

AlphaFold

Q9EPR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028815
AA Change: H29R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: H29R

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: ENSMUST00000121434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127724

Predicted Effect

probably damaging
Transcript: ENSMUST00000128899
AA Change: H29R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.0735

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (73/75)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
2310057N15Rik	A	G	16: 88,570,663 (GRCm39)	Y126H	probably damaging	Het
Catsperg1	A	T	7: 28,894,859 (GRCm39)	Y579*	probably null	Het
Chchd5	A	T	2: 128,972,319 (GRCm39)		probably null	Het
Chd1l	T	C	3: 97,491,224 (GRCm39)	N423D	probably damaging	Het
Cntnap1	G	A	11: 101,079,567 (GRCm39)	W1268*	probably null	Het
Col2a1	G	A	15: 97,877,550 (GRCm39)	A1011V	probably benign	Het
Cst11	A	G	2: 148,612,325 (GRCm39)	I104T	probably benign	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dnaaf4	T	C	9: 72,879,600 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 118,001,403 (GRCm39)	F847L	probably benign	Het
Dspp	A	T	5: 104,323,439 (GRCm39)	H194L	possibly damaging	Het
Dync2i2	C	A	2: 29,922,781 (GRCm39)	R322L	probably benign	Het
Frmd5	C	A	2: 121,379,341 (GRCm39)	R414L	probably damaging	Het
Galnt3	C	A	2: 65,915,585 (GRCm39)	R592L	probably benign	Het
Gm38706	T	A	6: 130,461,580 (GRCm39)		noncoding transcript	Het
Gm38706	T	A	6: 130,461,983 (GRCm39)		noncoding transcript	Het
Hivep3	A	G	4: 119,956,114 (GRCm39)	K1477E	probably benign	Het
Igsf3	C	T	3: 101,358,233 (GRCm39)	T708M	probably damaging	Het
Ikzf4	T	G	10: 128,477,119 (GRCm39)	E64A	probably benign	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Krt87	T	A	15: 101,389,105 (GRCm39)	I76F	probably damaging	Het
Lat2	A	G	5: 134,631,991 (GRCm39)	V152A	probably benign	Het
Lrp12	C	T	15: 39,741,852 (GRCm39)	D288N	probably damaging	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Myh4	T	A	11: 67,144,358 (GRCm39)	S1243T	probably benign	Het
Myo3b	T	A	2: 70,088,412 (GRCm39)	F892I	probably damaging	Het
Nckap5l	T	C	15: 99,323,731 (GRCm39)	N924S	possibly damaging	Het
Npnt	C	T	3: 132,612,218 (GRCm39)	C218Y	probably damaging	Het
Or2a20	T	A	6: 43,193,991 (GRCm39)	I48N	probably damaging	Het
Or2d2b	A	T	7: 106,705,288 (GRCm39)	M260K	probably damaging	Het
Or7a42	T	A	10: 78,791,905 (GRCm39)	F289I	probably damaging	Het
Pfkm	G	A	15: 98,020,570 (GRCm39)	C233Y	probably benign	Het
Pigq	A	G	17: 26,153,177 (GRCm39)	V338A	probably benign	Het
Pld4	A	T	12: 112,734,484 (GRCm39)	N415I	possibly damaging	Het
Pmm1	A	T	15: 81,842,095 (GRCm39)		probably null	Het
Polg	G	T	7: 79,109,822 (GRCm39)	P394T	probably damaging	Het
Polq	A	T	16: 36,882,749 (GRCm39)	I1359L	probably benign	Het
Pramel30	A	G	4: 144,057,836 (GRCm39)	S148G	probably benign	Het
Pros1	A	G	16: 62,748,548 (GRCm39)	N674D	possibly damaging	Het
Psme4	T	A	11: 30,806,896 (GRCm39)		probably benign	Het
Rasa3	A	T	8: 13,634,959 (GRCm39)	C453*	probably null	Het
Repin1	T	C	6: 48,573,542 (GRCm39)	V101A	probably damaging	Het
Rnf186	A	T	4: 138,694,540 (GRCm39)	M27L	probably benign	Het
Rpa1	A	G	11: 75,204,125 (GRCm39)		probably null	Het
Rph3a	G	T	5: 121,083,454 (GRCm39)	N605K	probably damaging	Het
Rps18	A	T	17: 34,171,258 (GRCm39)		probably null	Het
Scgn	A	G	13: 24,174,958 (GRCm39)	I20T	probably damaging	Het
Skint6	A	T	4: 112,848,452 (GRCm39)	V652E	possibly damaging	Het
Slc34a3	C	T	2: 25,120,854 (GRCm39)	V383I	possibly damaging	Het
Slc5a1	A	G	5: 33,309,917 (GRCm39)	M382V	possibly damaging	Het
Slc5a3	T	A	16: 91,874,169 (GRCm39)	S75R	probably damaging	Het
Stat5b	G	C	11: 100,693,309 (GRCm39)	H111D	probably benign	Het
Tanc2	G	A	11: 105,515,886 (GRCm39)	M1I	probably null	Het
Tbcel	C	T	9: 42,327,419 (GRCm39)	G328E	probably damaging	Het
Tecta	C	A	9: 42,284,358 (GRCm39)	R909L	possibly damaging	Het
Tnip1	A	T	11: 54,828,810 (GRCm39)	M119K	probably benign	Het
Zbbx	A	C	3: 75,058,755 (GRCm39)	S51A	possibly damaging	Het
Zc3h12c	T	C	9: 52,028,000 (GRCm39)	N454S	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	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
R4084:Slc23a2	UTSW	2	131,933,137 (GRCm39)	nonsense	probably null
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
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'- GGTTAACTCAAGCAGGTCCC -3'
(R):5'- ACCTCCATCTAAGACTCCAGTG -3'

Sequencing Primer
(F):5'- CCTGAGGCTGGCTAAGAGTAC -3'
(R):5'- ATCTAAGACTCCAGTGTCCCTG -3'

Posted On

2016-06-06