Mutagenetix > Incidental Mutation

Incidental Mutation 'R7000:Slc23a2'

544440

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

045105-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7000 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132052496-132145108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132094203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 49 (Q49R)

Ref Sequence

ENSEMBL: ENSMUSP00000028815 (fasta)

Gene Model

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

AlphaFold

Q9EPR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028815
AA Change: Q49R

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: Q49R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,702,823 (GRCm38)	A525T	probably benign	Het
Abcc6	A	G	7: 46,005,522 (GRCm38)	I515T	possibly damaging	Het
Abi1	G	A	2: 22,942,041 (GRCm38)	A420V	probably damaging	Het
Abtb2	A	T	2: 103,712,442 (GRCm38)	I887F	possibly damaging	Het
Acap3	G	A	4: 155,903,849 (GRCm38)	G602S	possibly damaging	Het
Auts2	T	A	5: 131,440,218 (GRCm38)	T754S	probably benign	Het
AW551984	T	C	9: 39,600,789 (GRCm38)	R12G	probably benign	Het
Bcan	G	A	3: 87,988,379 (GRCm38)	R817*	probably null	Het
Bmp10	A	G	6: 87,434,193 (GRCm38)	T323A	probably benign	Het
Bpnt1	T	C	1: 185,349,856 (GRCm38)	L165P	probably damaging	Het
Casz1	G	A	4: 148,929,236 (GRCm38)	A86T	probably damaging	Het
Ccn3	A	T	15: 54,752,347 (GRCm38)	T303S	probably damaging	Het
Cd1d2	T	C	3: 86,987,773 (GRCm38)	F189L	probably benign	Het
Cep72	A	G	13: 74,058,325 (GRCm38)	M126T	probably damaging	Het
Cep85l	T	A	10: 53,298,199 (GRCm38)	T483S	probably damaging	Het
Cfi	C	A	3: 129,872,873 (GRCm38)	T415K	probably damaging	Het
Chrna7	A	G	7: 63,106,039 (GRCm38)	L253S	probably damaging	Het
Col4a4	T	C	1: 82,497,330 (GRCm38)	H596R	unknown	Het
Cyp2j8	A	T	4: 96,447,351 (GRCm38)	M402K	probably benign	Het
Cyp3a16	T	A	5: 145,463,170 (GRCm38)		probably null	Het
Dhdh	T	C	7: 45,475,274 (GRCm38)	K332E	possibly damaging	Het
Dnah11	C	A	12: 118,017,661 (GRCm38)	C2590F	probably damaging	Het
Dnah17	T	C	11: 118,025,702 (GRCm38)		probably null	Het
Dtx1	A	G	5: 120,695,083 (GRCm38)	Y97H	probably damaging	Het
Duxf1	T	C	10: 58,222,992 (GRCm38)	T647A	possibly damaging	Het
Elf1	A	G	14: 79,570,768 (GRCm38)	D183G	probably damaging	Het
Esyt3	A	C	9: 99,322,153 (GRCm38)	L94R	probably damaging	Het
Exoc3	A	G	13: 74,182,166 (GRCm38)	Y521H	probably benign	Het
F5	C	T	1: 164,179,506 (GRCm38)	T293M	probably damaging	Het
Fam118b	A	T	9: 35,235,264 (GRCm38)	H102Q	probably damaging	Het
Flad1	T	C	3: 89,402,242 (GRCm38)		probably benign	Het
Flrt3	G	A	2: 140,660,884 (GRCm38)	R275*	probably null	Het
Fndc7	G	A	3: 108,876,648 (GRCm38)	A215V	probably benign	Het
Fscn1	T	A	5: 142,960,627 (GRCm38)	V60E	probably damaging	Het
Gm17175	A	T	14: 51,573,961 (GRCm38)	M1K	probably null	Het
Gpatch2l	G	A	12: 86,244,184 (GRCm38)	R47H	probably damaging	Het
Gprc6a	T	C	10: 51,615,047 (GRCm38)	S694G	probably benign	Het
Iglon5	A	T	7: 43,476,830 (GRCm38)		probably null	Het
Iqch	T	C	9: 63,454,610 (GRCm38)	T874A	probably benign	Het
Lamc2	T	A	1: 153,166,127 (GRCm38)	H87L	possibly damaging	Het
Ldlrad1	T	A	4: 107,209,580 (GRCm38)	D37E	probably benign	Het
Lman1l	G	C	9: 57,615,948 (GRCm38)	Q109E	probably benign	Het
Loxhd1	T	C	18: 77,372,433 (GRCm38)		probably null	Het
Lxn	T	G	3: 67,462,371 (GRCm38)	E60D	probably benign	Het
Man2b2	A	G	5: 36,821,869 (GRCm38)	W276R	probably damaging	Het
Mast1	T	C	8: 84,928,969 (GRCm38)	Y182C	probably damaging	Het
Mroh8	C	T	2: 157,216,977 (GRCm38)	R923Q	probably benign	Het
Obscn	A	G	11: 59,136,038 (GRCm38)	L113P	probably damaging	Het
Ocln	C	T	13: 100,534,962 (GRCm38)		probably null	Het
Oog2	A	T	4: 144,195,327 (GRCm38)	Q269L	probably damaging	Het
Or52e8	G	A	7: 104,975,131 (GRCm38)	P285S	probably damaging	Het
Or5b113	A	G	19: 13,364,623 (GRCm38)		probably benign	Het
Osbpl3	A	G	6: 50,297,157 (GRCm38)	S826P	probably damaging	Het
Otogl	T	C	10: 107,779,831 (GRCm38)	N1869S	probably benign	Het
Pamr1	G	A	2: 102,611,623 (GRCm38)	D186N	probably damaging	Het
Pcdhga8	T	A	18: 37,726,893 (GRCm38)	I334K	probably benign	Het
Pde7b	A	G	10: 20,443,292 (GRCm38)	S95P	probably damaging	Het
Pik3cg	A	T	12: 32,192,129 (GRCm38)	V994E	probably damaging	Het
Pkp1	T	C	1: 135,889,954 (GRCm38)	M148V	probably benign	Het
Plbd1	T	G	6: 136,612,838 (GRCm38)	K461Q	probably benign	Het
Pmfbp1	A	G	8: 109,530,589 (GRCm38)	E594G	possibly damaging	Het
Pold3	A	T	7: 100,106,658 (GRCm38)	H60Q	probably damaging	Het
Polr3gl	C	T	3: 96,580,467 (GRCm38)	R52Q	possibly damaging	Het
Ptgds	A	G	2: 25,467,816 (GRCm38)		probably null	Het
Scarb2	T	C	5: 92,454,075 (GRCm38)	D320G	probably benign	Het
Sdk2	T	C	11: 113,803,169 (GRCm38)	Y1812C	probably damaging	Het
Skint8	C	A	4: 111,937,025 (GRCm38)	T204N	probably benign	Het
Slc26a7	T	C	4: 14,552,476 (GRCm38)	Q227R	probably benign	Het
Sntn	C	T	14: 13,679,108 (GRCm38)	T94I	probably damaging	Het
Spem2	C	T	11: 69,817,756 (GRCm38)	G128S	probably benign	Het
Supt16	A	T	14: 52,171,450 (GRCm38)	S822R	probably damaging	Het
Syn3	T	C	10: 86,080,252 (GRCm38)	Y290C	probably damaging	Het
Tdrd6	C	G	17: 43,627,708 (GRCm38)	E816D	probably benign	Het
Tln1	A	T	4: 43,556,302 (GRCm38)	M72K	probably damaging	Het
Tlnrd1	A	G	7: 83,882,779 (GRCm38)	V148A	probably damaging	Het
Trim24	C	A	6: 37,958,678 (GRCm38)	T832K	probably benign	Het
Ubr4	C	T	4: 139,414,404 (GRCm38)	A1267V	probably damaging	Het
Usp17lb	A	T	7: 104,841,285 (GRCm38)	M145K	probably damaging	Het
Vmn1r178	T	A	7: 23,894,337 (GRCm38)	M270K	probably benign	Het
Vmn2r70	A	T	7: 85,559,611 (GRCm38)	C553S	probably damaging	Het
Vps37c	G	T	19: 10,710,329 (GRCm38)	E51D	probably damaging	Het
Zfp62	T	G	11: 49,216,379 (GRCm38)	Y432*	probably null	Het

Other mutations in Slc23a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Slc23a2	APN	2	132,101,500 (GRCm38)	missense	probably benign	0.00
IGL01123:Slc23a2	APN	2	132,056,816 (GRCm38)	missense	probably benign	0.02
IGL03115:Slc23a2	APN	2	132,091,265 (GRCm38)	missense	probably damaging	1.00
R0352:Slc23a2	UTSW	2	132,060,796 (GRCm38)	missense	probably benign	0.03
R0446:Slc23a2	UTSW	2	132,078,433 (GRCm38)	missense	probably benign	0.06
R0499:Slc23a2	UTSW	2	132,072,017 (GRCm38)	missense	probably damaging	1.00
R1252:Slc23a2	UTSW	2	132,062,197 (GRCm38)	splice site	probably null
R1663:Slc23a2	UTSW	2	132,065,464 (GRCm38)	missense	probably damaging	1.00
R1768:Slc23a2	UTSW	2	132,075,641 (GRCm38)	missense	probably benign
R1914:Slc23a2	UTSW	2	132,056,766 (GRCm38)	missense	probably damaging	0.99
R2277:Slc23a2	UTSW	2	132,091,259 (GRCm38)	missense	possibly damaging	0.54
R2326:Slc23a2	UTSW	2	132,094,195 (GRCm38)	missense	possibly damaging	0.72
R2385:Slc23a2	UTSW	2	132,089,201 (GRCm38)	missense	probably benign	0.01
R4049:Slc23a2	UTSW	2	132,060,683 (GRCm38)	missense	probably benign	0.00
R4084:Slc23a2	UTSW	2	132,091,217 (GRCm38)	nonsense	probably null
R4497:Slc23a2	UTSW	2	132,056,782 (GRCm38)	nonsense	probably null
R4710:Slc23a2	UTSW	2	132,056,709 (GRCm38)	missense	probably benign
R4873:Slc23a2	UTSW	2	132,056,880 (GRCm38)	missense	possibly damaging	0.75
R4875:Slc23a2	UTSW	2	132,056,880 (GRCm38)	missense	possibly damaging	0.75
R5008:Slc23a2	UTSW	2	132,101,494 (GRCm38)	missense	probably damaging	0.99
R5164:Slc23a2	UTSW	2	132,075,450 (GRCm38)	intron	probably benign
R5236:Slc23a2	UTSW	2	132,075,584 (GRCm38)	missense	probably damaging	0.97
R6587:Slc23a2	UTSW	2	132,078,481 (GRCm38)	missense	possibly damaging	0.70
R6738:Slc23a2	UTSW	2	132,078,436 (GRCm38)	missense	probably benign	0.10
R6960:Slc23a2	UTSW	2	132,091,253 (GRCm38)	missense	probably damaging	1.00
R7062:Slc23a2	UTSW	2	132,091,269 (GRCm38)	missense	probably damaging	0.99
R7293:Slc23a2	UTSW	2	132,089,106 (GRCm38)	missense	probably benign	0.02
R7324:Slc23a2	UTSW	2	132,089,123 (GRCm38)	missense	probably damaging	1.00
R8077:Slc23a2	UTSW	2	132,089,172 (GRCm38)	missense	possibly damaging	0.51
R8794:Slc23a2	UTSW	2	132,060,709 (GRCm38)	missense	probably benign	0.01
R8839:Slc23a2	UTSW	2	132,101,472 (GRCm38)	splice site	silent
R8882:Slc23a2	UTSW	2	132,091,239 (GRCm38)	missense	possibly damaging	0.82
R9129:Slc23a2	UTSW	2	132,078,412 (GRCm38)	critical splice donor site	probably null
R9252:Slc23a2	UTSW	2	132,071,922 (GRCm38)	missense	probably damaging	1.00
R9597:Slc23a2	UTSW	2	132,062,178 (GRCm38)	missense	probably damaging	1.00
R9728:Slc23a2	UTSW	2	132,058,210 (GRCm38)	missense	probably damaging	1.00
X0011:Slc23a2	UTSW	2	132,091,263 (GRCm38)	missense	possibly damaging	0.64
X0018:Slc23a2	UTSW	2	132,066,806 (GRCm38)	missense	probably benign	0.30
Z1176:Slc23a2	UTSW	2	132,060,788 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTGGCCAAGGCTTTTACAAATACC -3'
(R):5'- CCGCTGCGATATGTAATGCG -3'

Sequencing Primer
(F):5'- GAGCTTTTAACCTTAATTGCT -3'
(R):5'- AATGCGCAGTTTAGGGCTCTC -3'

Posted On

2019-05-13