Mutagenetix > Incidental Mutation

Incidental Mutation 'R0417:Slc36a2'

40421

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

038619-MU

Accession Numbers

Essential gene?

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

Stock #

R0417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55049296-55075903 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 55072370 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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,199,244 (GRCm39)	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,028,864 (GRCm39)	Y112H	probably damaging	Het
Acot2	T	C	12: 84,037,387 (GRCm39)	Y234H	probably benign	Het
Alox12e	C	T	11: 70,212,691 (GRCm39)	V53I	probably benign	Het
Ankrd50	T	C	3: 38,510,510 (GRCm39)	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,479,259 (GRCm39)	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,034 (GRCm39)	S82G	possibly damaging	Het
Arhgef18	T	C	8: 3,438,957 (GRCm39)		probably benign	Het
Bicra	C	A	7: 15,706,247 (GRCm39)	R1398L	probably damaging	Het
Boc	T	C	16: 44,340,597 (GRCm39)	T118A	probably benign	Het
Btnl9	A	G	11: 49,066,422 (GRCm39)	Y381H	probably damaging	Het
Cbln3	T	G	14: 56,121,586 (GRCm39)	E20A	probably benign	Het
Cdc42ep5	A	G	7: 4,154,482 (GRCm39)	L102P	probably damaging	Het
Csrnp3	A	G	2: 65,849,887 (GRCm39)	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,340,152 (GRCm39)	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,150,855 (GRCm39)	T295S	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Dok1	A	T	6: 83,008,550 (GRCm39)	D377E	probably damaging	Het
Eed	A	T	7: 89,620,760 (GRCm39)	Y87*	probably null	Het
Entpd3	T	C	9: 120,386,487 (GRCm39)	V156A	probably damaging	Het
Exo5	T	A	4: 120,779,269 (GRCm39)	T199S	probably damaging	Het
Extl2	T	C	3: 115,818,006 (GRCm39)	I106T	probably benign	Het
Ezh2	A	G	6: 47,528,660 (GRCm39)	C291R	probably benign	Het
Flvcr1	A	T	1: 190,743,416 (GRCm39)	M466K	probably benign	Het
Fras1	G	T	5: 96,839,231 (GRCm39)	M1583I	probably benign	Het
Fzd9	G	T	5: 135,278,473 (GRCm39)	R471S	probably damaging	Het
Galr1	A	T	18: 82,423,665 (GRCm39)	F204Y	probably damaging	Het
Gna11	A	T	10: 81,366,738 (GRCm39)	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484 (GRCm39)	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Ikzf1	A	C	11: 11,719,352 (GRCm39)	N353T	probably benign	Het
Il7	T	A	3: 7,641,087 (GRCm39)	T110S	probably damaging	Het
Keg1	A	G	19: 12,688,424 (GRCm39)	N53D	probably damaging	Het
Klhl21	T	C	4: 152,099,964 (GRCm39)	I558T	probably damaging	Het
Lca5l	G	A	16: 95,963,853 (GRCm39)	T357M	probably damaging	Het
Lrba	T	C	3: 86,622,961 (GRCm39)	S2448P	probably damaging	Het
Map3k6	T	A	4: 132,975,393 (GRCm39)	Y709*	probably null	Het
Megf6	A	G	4: 154,352,424 (GRCm39)	E1261G	probably benign	Het
Mettl3	C	T	14: 52,534,155 (GRCm39)	G473D	probably damaging	Het
Mga	A	G	2: 119,733,271 (GRCm39)	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602 (GRCm39)	D232E	probably benign	Het
Nampt	T	C	12: 32,883,100 (GRCm39)	V95A	probably benign	Het
Nbeal1	T	C	1: 60,286,893 (GRCm39)	V905A	probably benign	Het
Nomo1	A	T	7: 45,718,122 (GRCm39)	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,420,497 (GRCm39)	I101F	probably damaging	Het
Nup160	A	T	2: 90,565,771 (GRCm39)	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,048,936 (GRCm39)	S69P	probably damaging	Het
Or2y17	T	A	11: 49,231,500 (GRCm39)	I47N	possibly damaging	Het
Or4a68	C	A	2: 89,270,519 (GRCm39)	V35L	possibly damaging	Het
Or4k77	A	G	2: 111,199,450 (GRCm39)	S158G	possibly damaging	Het
Or5be3	A	T	2: 86,863,789 (GRCm39)	Y259N	probably damaging	Het
Or8b12i	G	A	9: 20,082,510 (GRCm39)	A119V	probably damaging	Het
Or8c16	A	G	9: 38,130,751 (GRCm39)	I211V	probably benign	Het
Or8c8	T	C	9: 38,165,160 (GRCm39)	F149S	probably benign	Het
Osbpl3	C	T	6: 50,324,998 (GRCm39)	V167I	probably benign	Het
Pclo	T	A	5: 14,763,036 (GRCm39)	H3836Q	unknown	Het
Prkcg	A	T	7: 3,352,820 (GRCm39)		probably null	Het
Ror1	A	T	4: 100,269,197 (GRCm39)	H345L	possibly damaging	Het
Slc40a1	G	A	1: 45,950,534 (GRCm39)	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,299,264 (GRCm39)	T239K	probably benign	Het
Snapc3	A	G	4: 83,368,399 (GRCm39)	I299V	probably benign	Het
Sp3	G	A	2: 72,801,845 (GRCm39)	A56V	possibly damaging	Het
Spag17	T	A	3: 99,972,870 (GRCm39)	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,787,954 (GRCm39)	T978A	probably benign	Het
Stom	C	A	2: 35,211,644 (GRCm39)	V126F	probably damaging	Het
Stpg2	A	G	3: 138,924,082 (GRCm39)	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,949,740 (GRCm39)	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,793,199 (GRCm39)	I69S	probably benign	Het
Tbata	A	T	10: 61,016,118 (GRCm39)	D198V	probably damaging	Het
Tbc1d5	T	C	17: 51,063,733 (GRCm39)	I638V	probably benign	Het
Tomm70a	A	G	16: 56,970,266 (GRCm39)	D548G	probably benign	Het
Ust	A	G	10: 8,121,700 (GRCm39)	F303L	probably damaging	Het
Vps13d	A	G	4: 144,703,130 (GRCm39)	S4306P	probably benign	Het
Zbed6	A	T	1: 133,586,276 (GRCm39)	S354T	probably benign	Het
Zfp691	A	G	4: 119,027,693 (GRCm39)	S180P	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TAATGCCAGAGGCCAAGCCAAG -3'
(R):5'- CCCAGATGTGCCAAAGCAAGGATAC -3'

Sequencing Primer
(F):5'- gccaagccaaggcagaac -3'
(R):5'- CCCACGCAGGTAATTGAAGTG -3'

Posted On

2013-05-23