Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Slc36a2'

102160

Institutional Source

Beutler Lab

Gene Symbol

Slc36a2

Ensembl Gene

ENSMUSG00000020264

Gene Name

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

Synonyms

PAT2, Tramd1, A530067G19Rik

MMRRC Submission

039258-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.352) question?

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55049296-55075903 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 55055057 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 null
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

Meta Mutation Damage Score

0.9715

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,497,551 (GRCm39)	R64Q	probably benign	Het
9530068E07Rik	G	A	11: 52,293,905 (GRCm39)	V49I	probably benign	Het
A2m	T	C	6: 121,638,493 (GRCm39)	S902P	probably benign	Het
Aatf	A	T	11: 84,361,375 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,306,746 (GRCm39)	T1395A	probably benign	Het
Alpk2	T	C	18: 65,427,412 (GRCm39)		probably null	Het
Ank3	G	T	10: 69,703,290 (GRCm39)	A308S	probably damaging	Het
Arap1	A	G	7: 101,053,476 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,050,461 (GRCm39)		probably benign	Het
C4b	T	C	17: 34,955,283 (GRCm39)	D769G	possibly damaging	Het
Cep350	A	G	1: 155,751,122 (GRCm39)	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,711,856 (GRCm39)	I2704F	unknown	Het
Crip2	G	A	12: 113,108,579 (GRCm39)		probably benign	Het
Cyp4f14	T	C	17: 33,135,760 (GRCm39)	I34V	probably benign	Het
Dcstamp	A	G	15: 39,618,025 (GRCm39)		probably null	Het
Ddx5	T	C	11: 106,674,805 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,406,526 (GRCm39)	L572Q	probably damaging	Het
Espl1	G	A	15: 102,212,474 (GRCm39)	A527T	probably benign	Het
Fam83d	A	G	2: 158,627,094 (GRCm39)	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,768,043 (GRCm39)	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,510,368 (GRCm39)		probably benign	Het
Galnt17	G	T	5: 131,140,580 (GRCm39)	T179K	probably damaging	Het
Gm6899	C	T	11: 26,543,685 (GRCm39)		probably benign	Het
Helz2	T	A	2: 180,872,921 (GRCm39)	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,671,920 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326 (GRCm39)	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,296,307 (GRCm39)	I195T	probably benign	Het
Isyna1	C	A	8: 71,047,851 (GRCm39)	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,296,984 (GRCm39)	F75S	probably benign	Het
Ly96	A	G	1: 16,771,118 (GRCm39)	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,769,096 (GRCm39)	T243A	probably damaging	Het
Mcc	A	G	18: 44,892,470 (GRCm39)	V48A	probably benign	Het
Mcpt2	C	T	14: 56,281,402 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,608,583 (GRCm39)		probably benign	Het
Mtbp	G	A	15: 55,428,067 (GRCm39)	G162S	probably null	Het
Mtfr2	G	A	10: 20,228,598 (GRCm39)	C48Y	probably benign	Het
Naip2	AGGG	AGG	13: 100,298,545 (GRCm39)		probably null	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ncoa4-ps	A	C	12: 119,225,206 (GRCm39)		noncoding transcript	Het
Nup107	A	C	10: 117,613,051 (GRCm39)	Y292*	probably null	Het
Nwd2	C	T	5: 63,807,367 (GRCm39)		probably benign	Het
Nxpe4	A	C	9: 48,304,692 (GRCm39)	N260H	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or6z7	T	C	7: 6,483,541 (GRCm39)	I205V	probably benign	Het
Or8b42	T	C	9: 38,342,397 (GRCm39)	V273A	possibly damaging	Het
Or8b47	T	C	9: 38,435,453 (GRCm39)	S142P	probably damaging	Het
Or8k37	A	T	2: 86,469,807 (GRCm39)	L82M	probably damaging	Het
P2rx7	T	C	5: 122,808,514 (GRCm39)	Y299H	probably damaging	Het
Per3	T	A	4: 151,110,595 (GRCm39)	E401V	probably damaging	Het
Rbm34	C	A	8: 127,692,197 (GRCm39)	E182*	probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Senp2	T	C	16: 21,830,254 (GRCm39)	S38P	probably damaging	Het
Spred1	A	T	2: 117,008,178 (GRCm39)	R361S	possibly damaging	Het
Spry2	A	G	14: 106,130,341 (GRCm39)	C282R	probably damaging	Het
Srp54b	T	C	12: 55,302,313 (GRCm39)		probably benign	Het
Taar8c	G	C	10: 23,977,463 (GRCm39)	Y116*	probably null	Het
Tchh	C	G	3: 93,355,353 (GRCm39)	R1598G	unknown	Het
Tex15	A	G	8: 34,061,661 (GRCm39)	M364V	probably benign	Het
Ttbk1	T	C	17: 46,778,057 (GRCm39)	R662G	probably damaging	Het
Ttc5	G	A	14: 51,004,683 (GRCm39)	Q374*	probably null	Het
Usp46	C	T	5: 74,162,783 (GRCm39)	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,535,051 (GRCm39)	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,593,317 (GRCm39)	R122*	probably null	Het
Vmn2r6	T	A	3: 64,472,488 (GRCm39)	M78L	probably benign	Het
Zfp407	A	T	18: 84,227,573 (GRCm39)	I2012N	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het
Zfyve26	G	A	12: 79,310,723 (GRCm39)	L161F	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
IGL01152:Slc36a2	APN	11	55,060,673 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCACAGATAGAAGCCCTTTGTCC -3'
(R):5'- GGTCCTGCCTCTGGAAAACAAGATG -3'

Sequencing Primer
(F):5'- TTTGCACTGAGATACCCGAC -3'
(R):5'- CAAGATGAAGGATGCCCGC -3'

Posted On

2014-01-15