Mutagenetix > Incidental Mutation

Incidental Mutation 'R5450:Slc29a2'

429312

Institutional Source

Beutler Lab

Gene Symbol

Slc29a2

Ensembl Gene

ENSMUSG00000024891

Gene Name

solute carrier family 29 (nucleoside transporters), member 2

Synonyms

HNP36, ENT2, Der12

MMRRC Submission

043015-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R5450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5024006-5031971 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5029275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 309 (I309V)

Ref Sequence

ENSEMBL: ENSMUSP00000025826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025826]

AlphaFold

Q61672

Predicted Effect

probably benign
Transcript: ENSMUST00000025826
AA Change: I309V

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025826
Gene: ENSMUSG00000024891
AA Change: I309V

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	67	89	N/A	INTRINSIC
transmembrane domain	96	115	N/A	INTRINSIC
Pfam:Nucleoside_tran	130	454	3.7e-117	PFAM

Meta Mutation Damage Score

0.1516

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit normal adenosine uptake in erythrocytes and protection from acute lung injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349 (GRCm38)	V173M	probably damaging	Het
AF067063	A	T	13: 119,828,363 (GRCm38)	V99E	probably damaging	Het
Arhgef4	T	G	1: 34,807,324 (GRCm38)		probably benign	Het
Atg14	T	C	14: 47,551,464 (GRCm38)	N144S	probably benign	Het
Cacna1h	A	T	17: 25,383,186 (GRCm38)	M1454K	probably damaging	Het
Catsperb	A	T	12: 101,446,068 (GRCm38)	H138L	possibly damaging	Het
Ccdc129	T	A	6: 55,968,811 (GRCm38)		probably null	Het
Cd200r2	T	A	16: 44,909,571 (GRCm38)	D159E	probably benign	Het
Cd79a	G	T	7: 24,899,262 (GRCm38)	G79C	probably damaging	Het
Ceacam20	A	G	7: 19,978,208 (GRCm38)	H38R	possibly damaging	Het
Cers1	T	C	8: 70,318,297 (GRCm38)	L119P	probably damaging	Het
Ces1f	C	A	8: 93,265,795 (GRCm38)	V343L	probably benign	Het
Ces3a	G	A	8: 105,057,918 (GRCm38)	G511S	possibly damaging	Het
Cyfip2	A	G	11: 46,284,252 (GRCm38)	C98R	probably benign	Het
Cyp2j11	C	A	4: 96,339,876 (GRCm38)	V169L	probably benign	Het
Cyp4f17	A	G	17: 32,528,886 (GRCm38)	T523A	probably benign	Het
Ddx31	T	C	2: 28,886,969 (GRCm38)	S567P	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Het
Dsg1b	A	C	18: 20,409,064 (GRCm38)	H876P	probably damaging	Het
Edrf1	G	T	7: 133,658,610 (GRCm38)	M83I	probably damaging	Het
Eno4	T	C	19: 58,960,247 (GRCm38)	F393S	possibly damaging	Het
Eral1	C	T	11: 78,078,357 (GRCm38)	D106N	probably benign	Het
Esp18	G	T	17: 39,408,179 (GRCm38)	R23M	probably benign	Het
Fam184b	C	T	5: 45,539,801 (GRCm38)	V674I	probably benign	Het
Fbxw13	A	C	9: 109,184,157 (GRCm38)	N154K	probably benign	Het
Gtpbp6	A	G	5: 110,107,125 (GRCm38)	V130A	probably damaging	Het
Hc	T	C	2: 35,013,038 (GRCm38)	D1067G	possibly damaging	Het
Ighg1	A	T	12: 113,330,506 (GRCm38)	S6T	unknown	Het
Ikzf3	C	T	11: 98,467,086 (GRCm38)	R475H	probably damaging	Het
Kcmf1	A	T	6: 72,842,930 (GRCm38)	L311*	probably null	Het
Kmt2d	C	A	15: 98,855,086 (GRCm38)	E184D	probably damaging	Het
Lrguk	A	T	6: 34,071,061 (GRCm38)	I314F	probably damaging	Het
Maml2	A	C	9: 13,706,467 (GRCm38)	S370R	probably damaging	Het
Mroh1	C	A	15: 76,432,347 (GRCm38)		probably benign	Het
Mx1	A	T	16: 97,454,147 (GRCm38)	Y235*	probably null	Het
Olfr1269	A	G	2: 90,118,669 (GRCm38)	*310Q	probably null	Het
Pamr1	T	G	2: 102,639,317 (GRCm38)	Y403D	probably damaging	Het
Panx2	A	G	15: 89,068,959 (GRCm38)	E551G	possibly damaging	Het
Patl2	A	G	2: 122,125,281 (GRCm38)	V258A	probably benign	Het
Ppm1m	A	G	9: 106,196,842 (GRCm38)	F255L	probably benign	Het
Prpf40a	G	T	2: 53,156,926 (GRCm38)	T266N	possibly damaging	Het
Psg18	T	A	7: 18,353,425 (GRCm38)	I103F	probably benign	Het
Rpl39-ps	A	G	15: 102,635,148 (GRCm38)		noncoding transcript	Het
Rps6kb1	A	T	11: 86,532,837 (GRCm38)	F106I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908 (GRCm38)		probably benign	Het
Sardh	G	T	2: 27,239,698 (GRCm38)	T245K	possibly damaging	Het
Shprh	T	G	10: 11,212,330 (GRCm38)	I1619S	possibly damaging	Het
Skint1	G	A	4: 112,025,532 (GRCm38)	V258I	probably benign	Het
Slc27a5	T	C	7: 12,994,942 (GRCm38)	D331G	probably benign	Het
Slc30a5	C	T	13: 100,821,172 (GRCm38)	V130I	possibly damaging	Het
Slc4a3	C	A	1: 75,552,656 (GRCm38)	A531D	probably damaging	Het
Slc6a16	C	T	7: 45,261,248 (GRCm38)	T399I	probably benign	Het
Slitrk6	T	A	14: 110,750,097 (GRCm38)	H726L	probably benign	Het
Snx2	A	G	18: 53,210,712 (GRCm38)	K309R	probably damaging	Het
Speer4f2	T	A	5: 17,373,219 (GRCm38)	C4S	possibly damaging	Het
Sulf1	T	C	1: 12,796,907 (GRCm38)	V105A	probably benign	Het
Tmem8b	G	A	4: 43,673,992 (GRCm38)	V208I	probably benign	Het
Vmn1r47	T	C	6: 90,022,213 (GRCm38)	L109P	probably damaging	Het
Vmn1r73	C	A	7: 11,756,449 (GRCm38)	Q65K	possibly damaging	Het
Vmn1r76	T	C	7: 11,930,684 (GRCm38)	Y166C	probably damaging	Het
Vmn2r2	T	C	3: 64,126,590 (GRCm38)	T504A	probably benign	Het
Wdr75	C	A	1: 45,812,164 (GRCm38)	A300E	probably benign	Het
Yars	A	G	4: 129,197,246 (GRCm38)	E149G	possibly damaging	Het
Zbtb18	T	C	1: 177,447,205 (GRCm38)	F35L	probably damaging	Het
Zfp366	A	G	13: 99,229,585 (GRCm38)	Y418C	probably damaging	Het

Other mutations in Slc29a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01606:Slc29a2	APN	19	5,027,439 (GRCm38)	missense	possibly damaging	0.72
IGL01727:Slc29a2	APN	19	5,026,458 (GRCm38)	missense	probably damaging	0.98
IGL03268:Slc29a2	APN	19	5,024,503 (GRCm38)	splice site	probably benign
R4050:Slc29a2	UTSW	19	5,029,453 (GRCm38)	missense	possibly damaging	0.92
R4615:Slc29a2	UTSW	19	5,029,264 (GRCm38)	missense	probably damaging	0.98
R5186:Slc29a2	UTSW	19	5,028,967 (GRCm38)	missense	probably benign	0.00
R5512:Slc29a2	UTSW	19	5,026,398 (GRCm38)	missense	probably benign	0.03
R6461:Slc29a2	UTSW	19	5,027,740 (GRCm38)	missense	probably benign	0.03
R6809:Slc29a2	UTSW	19	5,029,243 (GRCm38)	missense	probably damaging	1.00
R7447:Slc29a2	UTSW	19	5,026,417 (GRCm38)	missense	probably damaging	1.00
R7671:Slc29a2	UTSW	19	5,024,262 (GRCm38)	missense	probably benign	0.15
R8427:Slc29a2	UTSW	19	5,030,420 (GRCm38)	missense	probably benign	0.22
R9366:Slc29a2	UTSW	19	5,024,581 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTAGACCTTAGTGCGTATTCCC -3'
(R):5'- CCAGCCAATCCATGACGTTG -3'

Sequencing Primer
(F):5'- TCACTGGCTCATGGTGGC -3'
(R):5'- GCCAATCCATGACGTTGAAGAGC -3'

Posted On

2016-09-06