Mutagenetix > Incidental Mutation

Incidental Mutation 'R7324:Slc23a2'

568728

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

045418-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131894416-131987028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 131931043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 152 (T152I)

Ref Sequence

ENSEMBL: ENSMUSP00000028815 (fasta)

Gene Model

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

AlphaFold

Q9EPR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028815
AA Change: T152I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: T152I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	C	17: 84,983,667 (GRCm39)	D124G	possibly damaging	Het
Ackr3	C	G	1: 90,141,923 (GRCm39)	N127K	probably damaging	Het
AL732309.1	A	C	2: 25,136,151 (GRCm39)	M21R	possibly damaging	Het
Ankrd52	C	A	10: 128,222,032 (GRCm39)	T552K	possibly damaging	Het
Arhgap28	T	C	17: 68,202,879 (GRCm39)		probably null	Het
Arid5b	A	T	10: 67,964,752 (GRCm39)	N306K	probably benign	Het
C1qtnf3	A	C	15: 10,952,707 (GRCm39)	K56N	probably benign	Het
C2	C	T	17: 35,100,664 (GRCm39)	G52D	probably benign	Het
Casz1	C	T	4: 149,031,490 (GRCm39)	T1247M	probably damaging	Het
Cc2d2b	A	G	19: 40,797,552 (GRCm39)	D778G	unknown	Het
Cdh5	A	G	8: 104,869,425 (GRCm39)	D717G	probably damaging	Het
Clca3a2	G	A	3: 144,514,372 (GRCm39)	A445V	probably damaging	Het
Clca3b	T	A	3: 144,547,181 (GRCm39)	M319L	possibly damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Csnk1g3	A	G	18: 54,052,090 (GRCm39)	T220A	probably damaging	Het
Cyp2d10	T	G	15: 82,287,961 (GRCm39)	T381P	probably damaging	Het
Ddb2	G	A	2: 91,067,229 (GRCm39)		probably benign	Het
Ddx24	C	A	12: 103,382,518 (GRCm39)	L688F	probably damaging	Het
Dennd4c	T	C	4: 86,747,975 (GRCm39)	L1615P	unknown	Het
Dnah8	T	A	17: 31,003,099 (GRCm39)	D3599E	probably benign	Het
Dst	T	C	1: 34,045,305 (GRCm39)	S13P	possibly damaging	Het
Efcab12	T	C	6: 115,800,555 (GRCm39)	D156G	probably benign	Het
Enpp2	A	G	15: 54,741,170 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,803 (GRCm39)	V490A	probably damaging	Het
Etnppl	A	G	3: 130,423,224 (GRCm39)	N308D	probably damaging	Het
F5	TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	1: 164,021,150 (GRCm39)		probably benign	Het
Fam162b	A	T	10: 51,466,282 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,353,362 (GRCm39)	E86G	probably damaging	Het
Flii	G	A	11: 60,609,866 (GRCm39)	T615I	probably benign	Het
Fndc7	G	T	3: 108,779,537 (GRCm39)	Q336K	probably benign	Het
Gm26661	T	C	14: 7,791,911 (GRCm38)	C109R	unknown	Het
H2-DMb1	T	C	17: 34,378,436 (GRCm39)		probably null	Het
H2-T10	C	T	17: 36,430,189 (GRCm39)	G251R	probably damaging	Het
Harbi1	T	C	2: 91,551,044 (GRCm39)	I339T	probably benign	Het
Hsp90aa1	A	G	12: 110,661,659 (GRCm39)	M119T	unknown	Het
Ighe	T	A	12: 113,235,954 (GRCm39)	Y124F		Het
Ighv7-1	T	C	12: 113,860,149 (GRCm39)	Y81C	probably damaging	Het
Ilkap	A	T	1: 91,313,115 (GRCm39)		probably null	Het
Inpp5a	A	G	7: 139,105,586 (GRCm39)	D179G	probably damaging	Het
Itgad	A	T	7: 127,788,979 (GRCm39)	D510V	probably damaging	Het
Kcnn2	A	T	18: 45,693,138 (GRCm39)	H238L	probably benign	Het
Kctd17	T	A	15: 78,319,842 (GRCm39)	C189S	probably damaging	Het
Larp4b	C	A	13: 9,208,616 (GRCm39)	A423E	probably benign	Het
Llgl2	A	G	11: 115,741,556 (GRCm39)	E562G	possibly damaging	Het
Macf1	T	C	4: 123,268,218 (GRCm39)	T6734A	probably benign	Het
Maz	G	A	7: 126,623,765 (GRCm39)	T377M	probably damaging	Het
Mmrn1	G	T	6: 60,921,917 (GRCm39)	G125*	probably null	Het
Mvp	A	G	7: 126,592,781 (GRCm39)	S377P	probably benign	Het
Nin	C	T	12: 70,090,508 (GRCm39)	R969Q		Het
Nktr	C	T	9: 121,556,427 (GRCm39)	T35I	probably damaging	Het
Nktr	T	A	9: 121,577,357 (GRCm39)	M475K	possibly damaging	Het
Nod2	T	A	8: 89,379,694 (GRCm39)	V65D	probably damaging	Het
Opa1	A	T	16: 29,405,799 (GRCm39)	E121D	probably benign	Het
Or10w3	C	T	19: 13,704,270 (GRCm39)	A215V	probably benign	Het
Or1r1	A	G	11: 73,874,669 (GRCm39)	V255A	probably benign	Het
Or2n1c	T	C	17: 38,519,607 (GRCm39)	V157A	probably benign	Het
Or4a76	A	T	2: 89,460,447 (GRCm39)	I265N	possibly damaging	Het
Or5ac21	T	C	16: 59,123,611 (GRCm39)	F32L	probably benign	Het
Or5b123	A	G	19: 13,596,942 (GRCm39)	I96V	probably benign	Het
Or6c88	T	A	10: 129,406,718 (GRCm39)	S65T	probably damaging	Het
Or7e174	A	T	9: 20,012,726 (GRCm39)	I224F	possibly damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Plekhh3	T	A	11: 101,061,600 (GRCm39)	D38V	possibly damaging	Het
Prtg	C	T	9: 72,798,122 (GRCm39)	A696V	probably damaging	Het
Ptpn14	T	G	1: 189,595,621 (GRCm39)	V748G	possibly damaging	Het
Reg2	A	T	6: 78,383,137 (GRCm39)	D28V	probably benign	Het
Rhpn1	A	T	15: 75,576,246 (GRCm39)	I2F	possibly damaging	Het
Rundc3a	A	G	11: 102,290,799 (GRCm39)	E294G	possibly damaging	Het
Scara3	T	A	14: 66,168,865 (GRCm39)	I251L	probably benign	Het
Slc39a2	T	G	14: 52,131,650 (GRCm39)	S74A	possibly damaging	Het
Tmprss15	T	C	16: 78,758,907 (GRCm39)	Y937C	probably damaging	Het
Tpp2	T	C	1: 44,017,938 (GRCm39)	L779S	probably damaging	Het
Tssk2	T	C	16: 17,717,227 (GRCm39)	V210A	possibly damaging	Het
Ttn	T	A	2: 76,725,937 (GRCm39)	T6100S	unknown	Het
Tufm	G	A	7: 126,088,759 (GRCm39)	E317K	possibly damaging	Het
Vinac1	T	C	2: 128,879,772 (GRCm39)	D718G	unknown	Het
Wdfy4	A	G	14: 32,769,271 (GRCm39)	S2219P		Het
Wtap	T	C	17: 13,199,833 (GRCm39)	N50S	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
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
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
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'- TGTTCCCTTCATGAAGAGAGG -3'
(R):5'- AGGACACCAGTGTTAAGGGC -3'

Sequencing Primer
(F):5'- TCCCTTCATGAAGAGAGGAAATATG -3'
(R):5'- CACCAGTGTTAAGGGCAAATTAAGC -3'

Posted On

2019-09-13