Mutagenetix > Incidental Mutation

Incidental Mutation 'R7062:Slc23a2'

548314

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

045158-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132052496-132145108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132091269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 90 (I90F)

Ref Sequence

ENSEMBL: ENSMUSP00000028815 (fasta)

Gene Model

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

AlphaFold

Q9EPR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028815
AA Change: I90F

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

SMART Domains

Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: I90F

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

probably benign
Transcript: ENSMUST00000128899

Meta Mutation Damage Score

0.1944

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,599,146	D1370V	probably damaging	Het
Ackr1	A	T	1: 173,332,115	I279N	possibly damaging	Het
Adcy10	A	G	1: 165,538,522	H536R	probably benign	Het
Adgrb3	T	C	1: 25,826,085	T226A	possibly damaging	Het
Apol10b	T	A	15: 77,585,273	M235L	probably benign	Het
Arhgap44	T	C	11: 65,011,932	T570A	probably benign	Het
Astn1	A	G	1: 158,688,511		probably null	Het
Camsap3	A	G	8: 3,607,834		probably benign	Het
Ccdc73	C	T	2: 104,951,878	A193V	probably damaging	Het
Ccl20	G	A	1: 83,117,814	C32Y	probably damaging	Het
Cdk11b	A	G	4: 155,626,811	E16G	probably damaging	Het
Celsr2	T	A	3: 108,402,510	N1591I	possibly damaging	Het
Col5a2	T	C	1: 45,417,625	E306G	probably benign	Het
Cpa1	C	T	6: 30,640,677	A106V	probably benign	Het
Ctdspl	G	A	9: 119,037,470	R199H	probably damaging	Het
Cyfip2	G	A	11: 46,260,832	P547S	probably damaging	Het
Cyp2c37	A	T	19: 39,995,546		probably null	Het
Dnajc16	A	G	4: 141,766,690	F549L	probably damaging	Het
Dnm3	T	A	1: 162,134,491	K50*	probably null	Het
Eci1	C	T	17: 24,426,740		probably benign	Het
Eif2b4	C	T	5: 31,192,831	C49Y	probably benign	Het
Emc3	A	T	6: 113,522,796	I56N	probably damaging	Het
Enthd1	A	G	15: 80,452,544	L563P	probably damaging	Het
Ercc4	T	A	16: 13,132,947	I635K	probably damaging	Het
Espl1	A	C	15: 102,298,896	N265T	probably benign	Het
Fads2	T	C	19: 10,065,598		probably null	Het
Fam186a	G	A	15: 99,933,640		probably benign	Het
Fastkd1	A	T	2: 69,704,322	I368K	possibly damaging	Het
Fat1	G	A	8: 44,950,216	M1I	probably null	Het
Foxj1	T	C	11: 116,331,993	E328G	probably benign	Het
Gfod2	T	C	8: 105,722,876		probably benign	Het
Gm6525	C	T	3: 84,174,891	R40C	probably benign	Het
Gna12	G	A	5: 140,785,485	T144I	probably benign	Het
Ighv9-3	T	C	12: 114,141,092	M11V	probably benign	Het
Kcnj14	T	C	7: 45,817,890	Y344C	probably damaging	Het
Lrrc63	A	T	14: 75,086,297	S496T	probably benign	Het
Ltn1	T	C	16: 87,427,603	T78A	probably damaging	Het
Matr3	T	A	18: 35,579,019		probably null	Het
Mcpt4	A	G	14: 56,060,668	M142T	probably benign	Het
Mroh7	A	G	4: 106,683,980	F1154S	probably damaging	Het
Mrpl1	G	T	5: 96,213,791	L12F	probably benign	Het
Myo3b	G	A	2: 70,217,157	V308I	probably benign	Het
Nfasc	A	G	1: 132,601,969		probably null	Het
Npc1l1	T	A	11: 6,217,807	M995L	probably benign	Het
Nvl	A	G	1: 181,112,334	I617T	probably benign	Het
Oas1h	C	A	5: 120,861,465		probably benign	Het
Oasl2	T	A	5: 114,911,091	Y197*	probably null	Het
Olfr1156	T	C	2: 87,950,224	E3G	probably benign	Het
Olfr262	T	C	19: 12,240,725	N312S	probably benign	Het
Olfr495	C	T	7: 108,395,830	R237*	probably null	Het
Olfr598	T	C	7: 103,329,086	V200A	probably benign	Het
Olfr728	A	G	14: 50,140,450	L63P	probably damaging	Het
Olfr955	A	T	9: 39,470,057	I223N	probably benign	Het
Orc6	T	C	8: 85,302,908	V27A	probably damaging	Het
Parp4	A	T	14: 56,614,759	R799S	possibly damaging	Het
Pcdhga1	C	A	18: 37,825,077	S826R	probably damaging	Het
Phldb1	T	C	9: 44,696,135	R1258G	probably damaging	Het
Ppfia1	T	C	7: 144,552,473	S21G	probably benign	Het
Ppp1r18	C	A	17: 35,868,211	T326K	probably damaging	Het
Psg26	A	G	7: 18,482,596	L106P	probably damaging	Het
Rabgap1l	A	T	1: 160,226,650	D265E	probably benign	Het
Rasgrp4	T	C	7: 29,150,194	L554P	possibly damaging	Het
Rnf17	G	T	14: 56,465,654	V621L	probably benign	Het
Sart3	T	C	5: 113,745,602	K783R	possibly damaging	Het
Slc5a2	A	T	7: 128,270,040	M331L	probably damaging	Het
Slc5a7	C	G	17: 54,293,001	G128A	probably damaging	Het
Smcr8	A	T	11: 60,780,354	Q776L	probably damaging	Het
Smpd4	T	A	16: 17,640,971	D519E	probably damaging	Het
Smurf1	A	T	5: 144,893,546		probably null	Het
Spata18	T	A	5: 73,659,293	N125K	probably benign	Het
Spice1	T	A	16: 44,357,896	M94K	probably damaging	Het
Stard4	T	C	18: 33,205,534		probably null	Het
Stx17	A	G	4: 48,140,442	D49G	probably benign	Het
Tbce	T	C	13: 14,019,795	D93G	possibly damaging	Het
Tbx21	T	A	11: 97,098,893	D491V	probably damaging	Het
Tmbim4	G	T	10: 120,208,826		probably benign	Het
Tmem209	C	T	6: 30,502,017	R62H	probably damaging	Het
Tmem237	A	T	1: 59,119,612		probably null	Het
Tmprss9	T	C	10: 80,895,049	I803T	probably benign	Het
Trip4	C	T	9: 65,885,010	A7T	probably benign	Het
Unc13a	T	C	8: 71,663,237	D107G	probably benign	Het
Uso1	C	A	5: 92,192,740	Q672K	possibly damaging	Het
Washc2	T	A	6: 116,219,988	N239K	possibly damaging	Het
Zfp661	A	G	2: 127,577,120	C367R	probably damaging	Het
Znrf3	T	A	11: 5,281,550	E558D	probably damaging	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
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
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'- CCTGCTGTTCGGAAATTAATGTTG -3'
(R):5'- AAGGACAGAATGGCTACACC -3'

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

Posted On

2019-05-13