Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01152:Slc36a2'

52404

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc36a2

Ensembl Gene

ENSMUSG00000020264

Gene Name

solute carrier family 36 (proton/amino acid symporter), member 2

Synonyms

PAT2, Tramd1, A530067G19Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

IGL01152

Quality Score

Status

Chromosome

Chromosomal Location

55049296-55075903 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 55060673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039305]

AlphaFold

Q8BHK3

Predicted Effect

probably benign
Transcript: ENSMUST00000039305

SMART Domains

Protein: ENSMUSP00000045613
Gene: ENSMUSG00000020264

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	47	458	3.6e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125560

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	T	G	1: 192,515,947 (GRCm39)		noncoding transcript	Het
Abcb4	G	A	5: 9,000,678 (GRCm39)	V1031M	probably benign	Het
Abcc4	A	G	14: 118,836,797 (GRCm39)	S655P	probably damaging	Het
Actn1	T	C	12: 80,245,820 (GRCm39)	K121R	probably damaging	Het
Aldh1l2	T	A	10: 83,358,750 (GRCm39)	R82*	probably null	Het
Arhgap31	T	A	16: 38,422,601 (GRCm39)	H1155L	possibly damaging	Het
Atp8a1	G	T	5: 68,004,549 (GRCm39)	P2Q	probably damaging	Het
Bcs1l	A	G	1: 74,631,174 (GRCm39)	M401V	possibly damaging	Het
Brca2	A	T	5: 150,465,855 (GRCm39)	N1873I	probably damaging	Het
Cenpj	T	C	14: 56,789,757 (GRCm39)	N764S	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Clk1	A	T	1: 58,452,611 (GRCm39)	C359S	possibly damaging	Het
Clk2	T	A	3: 89,083,818 (GRCm39)	F479I	probably damaging	Het
Cul4b	T	C	X: 37,632,247 (GRCm39)	M709V	probably damaging	Het
D130052B06Rik	G	T	11: 33,573,620 (GRCm39)		probably null	Het
Dgkb	T	A	12: 38,134,233 (GRCm39)	N46K	probably damaging	Het
Dnah9	C	T	11: 65,962,882 (GRCm39)	R1811H	probably damaging	Het
Dnajc18	T	C	18: 35,813,926 (GRCm39)	N281S	probably benign	Het
Galnt5	A	T	2: 57,915,405 (GRCm39)	I654L	probably benign	Het
Gm9989	T	G	3: 81,829,518 (GRCm39)		noncoding transcript	Het
Gpr179	T	C	11: 97,228,237 (GRCm39)	E1306G	probably benign	Het
Gsc	C	A	12: 104,437,864 (GRCm39)	K219N	probably damaging	Het
Gsx2	A	T	5: 75,236,452 (GRCm39)	I11F	probably damaging	Het
Igdcc4	A	C	9: 65,042,446 (GRCm39)	E121A	probably damaging	Het
Lama2	C	T	10: 27,084,425 (GRCm39)	R915H	probably benign	Het
Large2	A	G	2: 92,200,984 (GRCm39)	L64P	probably damaging	Het
Lztr1	C	A	16: 17,340,317 (GRCm39)	Q136K	probably damaging	Het
Mageb18	A	G	X: 91,163,430 (GRCm39)	W271R	possibly damaging	Het
Magoh	A	C	4: 107,742,203 (GRCm39)		probably benign	Het
Matcap2	A	T	9: 22,346,460 (GRCm39)	H356L	probably benign	Het
Mrgprx1	T	C	7: 47,671,234 (GRCm39)	H171R	probably benign	Het
Muc1	C	A	3: 89,138,061 (GRCm39)	T301K	probably benign	Het
Nbas	C	T	12: 13,410,959 (GRCm39)	L868F	probably damaging	Het
Nwd2	A	G	5: 63,963,872 (GRCm39)	D1152G	possibly damaging	Het
Or5p68	C	T	7: 107,946,156 (GRCm39)	A11T	probably benign	Het
Or7d10	G	A	9: 19,832,245 (GRCm39)	V247M	possibly damaging	Het
Ovgp1	T	A	3: 105,893,488 (GRCm39)	D420E	possibly damaging	Het
Pacsin3	A	G	2: 91,094,121 (GRCm39)	D350G	probably benign	Het
Pcolce2	A	T	9: 95,574,976 (GRCm39)	N309Y	probably damaging	Het
Pim2	C	A	X: 7,744,661 (GRCm39)		probably benign	Het
Plcb1	A	G	2: 134,655,579 (GRCm39)	Y53C	probably damaging	Het
Pogk	T	C	1: 166,236,047 (GRCm39)	E18G	probably damaging	Het
Pxdn	T	A	12: 30,051,936 (GRCm39)	D704E	probably damaging	Het
Rb1	C	A	14: 73,443,310 (GRCm39)	S781I	probably damaging	Het
Rnpepl1	A	G	1: 92,843,621 (GRCm39)	H247R	possibly damaging	Het
Scube1	A	T	15: 83,497,771 (GRCm39)	F697I	probably damaging	Het
Sel1l3	G	T	5: 53,273,675 (GRCm39)	H1064N	probably damaging	Het
Serinc3	A	G	2: 163,478,831 (GRCm39)	Y99H	probably damaging	Het
Smarcc1	A	C	9: 109,968,693 (GRCm39)	E130A	possibly damaging	Het
Strc	A	G	2: 121,201,276 (GRCm39)	M1273T	probably benign	Het
Tmem116	A	G	5: 121,601,862 (GRCm39)	I21V	probably benign	Het
Tmem190	T	C	7: 4,787,025 (GRCm39)		probably benign	Het
Trim63	C	T	4: 134,052,987 (GRCm39)	A316V	probably benign	Het
Ugt2b34	T	C	5: 87,049,062 (GRCm39)	E321G	probably damaging	Het
Zfat	T	A	15: 67,982,353 (GRCm39)	R1053S	probably damaging	Het

Other mutations in Slc36a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Slc36a2	APN	11	55,053,614 (GRCm39)	nonsense	probably null
IGL01545:Slc36a2	APN	11	55,075,633 (GRCm39)	splice site	probably null
IGL01835:Slc36a2	APN	11	55,053,559 (GRCm39)	missense	probably benign	0.01
IGL02935:Slc36a2	APN	11	55,060,854 (GRCm39)	missense	possibly damaging	0.67
R0025:Slc36a2	UTSW	11	55,053,621 (GRCm39)	missense	probably damaging	1.00
R0025:Slc36a2	UTSW	11	55,053,621 (GRCm39)	missense	probably damaging	1.00
R0067:Slc36a2	UTSW	11	55,053,466 (GRCm39)	splice site	probably benign
R0417:Slc36a2	UTSW	11	55,072,370 (GRCm39)	critical splice donor site	probably null
R0747:Slc36a2	UTSW	11	55,060,685 (GRCm39)	missense	probably benign	0.00
R0927:Slc36a2	UTSW	11	55,072,411 (GRCm39)	missense	probably damaging	0.98
R1186:Slc36a2	UTSW	11	55,055,057 (GRCm39)	critical splice donor site	probably null
R1673:Slc36a2	UTSW	11	55,075,739 (GRCm39)	missense	possibly damaging	0.86
R1677:Slc36a2	UTSW	11	55,075,735 (GRCm39)	missense	probably benign
R2109:Slc36a2	UTSW	11	55,072,381 (GRCm39)	missense	probably damaging	1.00
R4037:Slc36a2	UTSW	11	55,055,101 (GRCm39)	missense	probably benign	0.10
R4945:Slc36a2	UTSW	11	55,065,520 (GRCm39)	missense	probably benign	0.10
R5108:Slc36a2	UTSW	11	55,050,214 (GRCm39)	missense	probably damaging	0.96
R6534:Slc36a2	UTSW	11	55,075,693 (GRCm39)	missense	probably benign	0.00
R7188:Slc36a2	UTSW	11	55,053,483 (GRCm39)	missense	possibly damaging	0.95
R7219:Slc36a2	UTSW	11	55,059,744 (GRCm39)	missense	probably benign	0.14
R7564:Slc36a2	UTSW	11	55,053,498 (GRCm39)	missense	probably benign	0.00
R8017:Slc36a2	UTSW	11	55,055,095 (GRCm39)	missense	probably benign	0.01
R8019:Slc36a2	UTSW	11	55,055,095 (GRCm39)	missense	probably benign	0.01
R8310:Slc36a2	UTSW	11	55,070,158 (GRCm39)	missense	possibly damaging	0.69
R9282:Slc36a2	UTSW	11	55,060,837 (GRCm39)	missense	probably benign	0.02
R9334:Slc36a2	UTSW	11	55,075,865 (GRCm39)	start gained	probably benign
R9711:Slc36a2	UTSW	11	55,070,169 (GRCm39)	missense	probably benign
X0063:Slc36a2	UTSW	11	55,059,654 (GRCm39)	critical splice donor site	probably null
Z1176:Slc36a2	UTSW	11	55,070,228 (GRCm39)	missense	probably benign	0.00
Z1177:Slc36a2	UTSW	11	55,060,880 (GRCm39)	missense	probably benign	0.01

Posted On

2013-06-21