Mutagenetix > Incidental Mutation

Incidental Mutation 'R4873:Slc23a2'

472570

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

042483-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132052496-132145108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132056880 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 579 (I579T)

Ref Sequence

ENSEMBL: ENSMUSP00000028815 (fasta)

Gene Model

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

AlphaFold

Q9EPR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028815
AA Change: I579T

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: I579T

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: ENSMUST00000137910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148749

Meta Mutation Damage Score

0.1727

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (40/41)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,631,177	E119D	probably benign	Het
Alox5	A	T	6: 116,413,850		probably null	Het
Atad5	T	C	11: 80,120,689	V1294A	probably damaging	Het
BB019430	A	G	10: 58,704,043		noncoding transcript	Het
Bbs9	T	C	9: 22,578,715	F261L	probably benign	Het
Catsperb	A	T	12: 101,587,985	N646I	possibly damaging	Het
Ccdc112	A	G	18: 46,296,289	I114T	probably damaging	Het
Cecr2	T	C	6: 120,750,916	L340P	probably damaging	Het
Ces2e	T	A	8: 104,927,185	V85E	probably damaging	Het
Cnpy2	C	A	10: 128,326,095	T79K	probably damaging	Het
Cntn4	G	A	6: 106,437,913	R135H	possibly damaging	Het
Cyp3a16	C	A	5: 145,452,849	M235I	probably benign	Het
Dll3	A	G	7: 28,296,435	C314R	probably damaging	Het
Dnah7c	A	G	1: 46,688,925	N2928D	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dqx1	C	A	6: 83,061,012	D460E	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Ehbp1	A	G	11: 22,101,164	C438R	probably damaging	Het
Ehd3	T	G	17: 73,805,304	V21G	probably damaging	Het
Ero1lb	G	A	13: 12,604,436	V440I	probably damaging	Het
Fpgt	G	A	3: 155,087,913	A159V	probably damaging	Het
Gcn1l1	T	C	5: 115,576,170	L123P	possibly damaging	Het
Gm14496	A	T	2: 181,997,433	R439W	probably damaging	Het
Gm20767	T	C	13: 120,154,670	V15A	probably damaging	Het
Gm4353	G	C	7: 116,084,413	P49R	probably damaging	Het
Gsdmc2	C	T	15: 63,828,252	A224T	probably benign	Het
Hnf1a	T	C	5: 114,970,673	T58A	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kcns1	T	C	2: 164,168,101	Y246C	probably damaging	Het
Kif26b	A	G	1: 178,915,327	E549G	probably benign	Het
Krt9	T	C	11: 100,190,037	I330V	probably benign	Het
Lair1	A	T	7: 4,029,034	S25T	probably benign	Het
Lhx4	T	C	1: 155,705,267	T171A	possibly damaging	Het
Luzp2	A	G	7: 55,167,248	I149V	possibly damaging	Het
Mcoln1	T	A	8: 3,507,422	S143T	probably benign	Het
Mcph1	A	G	8: 18,625,558		probably null	Het
Mgat5	G	A	1: 127,469,249	V578M	probably damaging	Het
Mis18bp1	G	A	12: 65,161,435	T168M	probably benign	Het
Mroh2a	G	T	1: 88,254,935	R1195L	possibly damaging	Het
Myom1	T	C	17: 71,072,119	V626A	probably damaging	Het
Nat6	C	T	9: 107,583,619	R238C	probably damaging	Het
Ncam1	T	C	9: 49,507,621		probably benign	Het
Nlrp2	A	T	7: 5,298,859	F211L	probably benign	Het
Olfr1368	T	A	13: 21,142,280	Y259F	probably damaging	Het
Olfr1495	T	A	19: 13,768,762	M140K	probably damaging	Het
Olfr517	A	T	7: 108,868,786	F123I	probably damaging	Het
Osbpl11	G	A	16: 33,234,493	V649I	probably benign	Het
Oscar	A	T	7: 3,616,017		probably null	Het
Pax8	T	A	2: 24,441,640	M144L	probably benign	Het
Pcnt	T	C	10: 76,369,854	T2555A	probably benign	Het
Plat	T	A	8: 22,768,450	I23K	probably benign	Het
Plpp2	G	A	10: 79,530,929	T51M	probably damaging	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Prl7c1	T	C	13: 27,773,759	M233V	probably benign	Het
Prox1	A	C	1: 190,162,122	F42C	probably damaging	Het
Pwwp2b	A	T	7: 139,256,062	Q473L	possibly damaging	Het
Rims4	A	T	2: 163,865,523	N127K	probably null	Het
Scn1a	T	C	2: 66,328,476	T367A	possibly damaging	Het
Sp9	T	C	2: 73,273,618	V172A	possibly damaging	Het
Spta1	T	A	1: 174,175,830	L109Q	probably damaging	Het
Synj2	A	T	17: 5,988,068		probably benign	Het
Tnrc18	A	T	5: 142,765,177	M1216K	unknown	Het
Tpst2	T	A	5: 112,309,821	Y69*	probably null	Het
Tpx2	C	A	2: 152,893,615	A721E	probably benign	Het
Trmt1l	A	G	1: 151,455,004	T591A	probably benign	Het
Tubgcp4	T	A	2: 121,184,849		probably benign	Het
Ubiad1	T	C	4: 148,444,099	T118A	possibly damaging	Het
Unc13c	T	C	9: 73,517,284	T2017A	probably damaging	Het
Vmn1r59	G	T	7: 5,454,109	N217K	probably benign	Het
Vmn2r87	T	C	10: 130,472,498	I624V	probably damaging	Het
Wdr4	A	G	17: 31,499,155	V315A	probably benign	Het
Xpo7	T	C	14: 70,676,816		probably null	Het
Zfp827	T	A	8: 79,060,774	W190R	probably damaging	Het
Zfp971	A	G	2: 178,033,147	T180A	probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	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
R4875:Slc23a2	UTSW	2	132056880	missense	possibly damaging	0.75
R5008:Slc23a2	UTSW	2	132101494	missense	probably damaging	0.99
R5164:Slc23a2	UTSW	2	132075450	intron	probably benign
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
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

Posted On

2017-04-14