Mutagenetix > Incidental Mutation

Incidental Mutation 'R1677:Slc36a2'

188198

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

039713-MU

Accession Numbers

Essential gene?

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

Stock #

R1677 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55049296-55075903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 55075735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 17 (N17K)

Ref Sequence

ENSEMBL: ENSMUSP00000045613 (fasta)

Gene Model

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

AlphaFold

Q8BHK3

Predicted Effect

probably benign
Transcript: ENSMUST00000039305
AA Change: N17K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045613
Gene: ENSMUSG00000020264
AA Change: N17K

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (95/95)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,357 (GRCm39)	M92K	probably benign	Het
4931406C07Rik	T	C	9: 15,212,660 (GRCm39)		probably null	Het
A430005L14Rik	G	A	4: 154,045,357 (GRCm39)	V129M	probably damaging	Het
Actg2	T	C	6: 83,499,801 (GRCm39)	T150A	possibly damaging	Het
Actn1	A	T	12: 80,306,806 (GRCm39)	D20E	probably benign	Het
Alcam	C	T	16: 52,091,136 (GRCm39)	E461K	probably damaging	Het
Anapc1	G	A	2: 128,518,128 (GRCm39)	P242L	probably benign	Het
Ankrd49	A	T	9: 14,692,674 (GRCm39)	D163E	probably benign	Het
Atp8b5	G	A	4: 43,372,903 (GRCm39)	R1149Q	possibly damaging	Het
Cacnb3	G	T	15: 98,540,455 (GRCm39)	V328F	probably damaging	Het
Camk4	T	C	18: 33,309,275 (GRCm39)	I226T	probably damaging	Het
Ccdc148	T	C	2: 58,892,176 (GRCm39)	D172G	probably damaging	Het
Cdh12	A	G	15: 21,520,491 (GRCm39)	I319V	probably damaging	Het
Cenpc1	T	C	5: 86,209,857 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,632,457 (GRCm39)	N15K	probably damaging	Het
Ckap2l	A	C	2: 129,127,087 (GRCm39)	S364A	possibly damaging	Het
Clic6	G	A	16: 92,324,972 (GRCm39)	G36R	probably damaging	Het
Col6a3	T	C	1: 90,749,583 (GRCm39)	Y417C	probably benign	Het
Cstf3	T	A	2: 104,494,623 (GRCm39)		probably benign	Het
Cyp4f39	G	A	17: 32,711,304 (GRCm39)	A484T	probably benign	Het
Dnah3	T	C	7: 119,527,963 (GRCm39)	N3829D	probably damaging	Het
Dntt	C	A	19: 41,017,923 (GRCm39)	P16T	probably benign	Het
Dym	T	A	18: 75,258,583 (GRCm39)	I447N	probably damaging	Het
Elmo1	T	C	13: 20,773,841 (GRCm39)	V617A	probably benign	Het
Elovl7	G	A	13: 108,419,160 (GRCm39)	G264D	probably damaging	Het
Epha7	T	A	4: 28,947,571 (GRCm39)	Y610*	probably null	Het
Fn1	T	C	1: 71,636,814 (GRCm39)	I178V	probably benign	Het
Fndc9	T	C	11: 46,129,152 (GRCm39)	Y224H	probably benign	Het
Gad1	T	C	2: 70,404,521 (GRCm39)	V137A	probably damaging	Het
Gapvd1	A	G	2: 34,590,773 (GRCm39)		probably null	Het
Gbp11	C	T	5: 105,475,277 (GRCm39)	C357Y	probably damaging	Het
Gcc1	G	A	6: 28,419,163 (GRCm39)	A390V	probably benign	Het
Gm6811	A	G	17: 21,314,185 (GRCm39)		noncoding transcript	Het
Htt	A	T	5: 34,985,918 (GRCm39)	D1063V	probably damaging	Het
Igfn1	C	T	1: 135,898,839 (GRCm39)	A576T	probably damaging	Het
Il12rb2	T	C	6: 67,280,485 (GRCm39)	Y240C	probably damaging	Het
Itga3	T	C	11: 94,946,585 (GRCm39)	D747G	probably damaging	Het
Kcnip2	A	C	19: 45,782,979 (GRCm39)	D134E	probably damaging	Het
Kif2b	C	A	11: 91,466,798 (GRCm39)	R495I	probably damaging	Het
Lef1	T	C	3: 130,993,938 (GRCm39)		probably benign	Het
Lias	C	T	5: 65,548,981 (GRCm39)	R4C	probably damaging	Het
Lpcat2	T	C	8: 93,591,560 (GRCm39)	V68A	probably benign	Het
Lrrc37	A	T	11: 103,505,768 (GRCm39)	S2067T	probably benign	Het
Lrrc8e	A	T	8: 4,284,190 (GRCm39)	K138N	probably damaging	Het
Map4k5	G	A	12: 69,852,082 (GRCm39)	H767Y	probably benign	Het
Mga	C	A	2: 119,791,333 (GRCm39)	T2406K	possibly damaging	Het
Mtx1	A	T	3: 89,116,648 (GRCm39)	S418T	probably benign	Het
Myh7	C	T	14: 55,224,973 (GRCm39)	M531I	probably benign	Het
Myorg	C	T	4: 41,497,947 (GRCm39)	R561H	probably benign	Het
Ncaph2	T	A	15: 89,255,427 (GRCm39)	M555K	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Ncoa6	T	C	2: 155,244,584 (GRCm39)		probably benign	Het
Nrp2	A	G	1: 62,822,479 (GRCm39)	S691G	probably benign	Het
Odad2	T	C	18: 7,222,554 (GRCm39)	T572A	probably benign	Het
Odf2l	A	T	3: 144,845,543 (GRCm39)		probably null	Het
Or5aq6	T	A	2: 86,923,081 (GRCm39)	H220L	probably benign	Het
Pcdh20	A	G	14: 88,705,410 (GRCm39)	V630A	probably damaging	Het
Pebp4	T	C	14: 70,285,923 (GRCm39)		probably null	Het
Ppfia3	T	A	7: 45,006,090 (GRCm39)	M301L	probably benign	Het
Ppp1r21	C	A	17: 88,858,097 (GRCm39)	Q203K	probably benign	Het
Prr23a1	T	C	9: 98,725,406 (GRCm39)	V256A	probably benign	Het
Rbfox1	A	G	16: 7,110,091 (GRCm39)	R150G	possibly damaging	Het
Rnps1-ps	A	T	6: 7,982,943 (GRCm39)		noncoding transcript	Het
Robo3	T	C	9: 37,329,005 (GRCm39)	R1238G	possibly damaging	Het
Rp9	T	G	9: 22,365,097 (GRCm39)	Q35P	probably damaging	Het
Rsrc1	C	A	3: 67,262,808 (GRCm39)	A254E	probably damaging	Het
Shtn1	T	A	19: 58,998,222 (GRCm39)	K390N	probably damaging	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Sirt7	A	G	11: 120,515,365 (GRCm39)	V97A	possibly damaging	Het
Slc14a2	A	G	18: 78,206,419 (GRCm39)	S466P	probably benign	Het
Slc2a10	T	A	2: 165,357,361 (GRCm39)	D340E	probably benign	Het
Slc4a10	A	C	2: 62,155,071 (GRCm39)	N1086T	probably benign	Het
Sptb	T	C	12: 76,676,423 (GRCm39)	D177G	probably damaging	Het
Srpk2	A	T	5: 23,730,748 (GRCm39)		probably null	Het
Sucla2	T	G	14: 73,830,121 (GRCm39)	V386G	probably damaging	Het
Susd1	G	T	4: 59,424,089 (GRCm39)	N45K	possibly damaging	Het
Tbxas1	T	C	6: 38,994,822 (GRCm39)		probably benign	Het
Topors	C	T	4: 40,261,776 (GRCm39)	E503K	probably damaging	Het
Trpv5	T	C	6: 41,634,731 (GRCm39)	R533G	probably benign	Het
Tshr	A	G	12: 91,504,115 (GRCm39)	H351R	possibly damaging	Het
Ube2f	G	A	1: 91,203,037 (GRCm39)	V94M	probably damaging	Het
Ugdh	A	G	5: 65,580,521 (GRCm39)	S216P	probably damaging	Het
Unc45b	T	A	11: 82,802,531 (GRCm39)		probably null	Het
Vmn1r226	A	G	17: 20,908,335 (GRCm39)	E189G	probably damaging	Het
Xrcc6	T	G	15: 81,913,900 (GRCm39)	D75E	probably benign	Het
Ypel1	A	G	16: 16,921,474 (GRCm39)	L70P	probably damaging	Het
Zcwpw1	A	T	5: 137,795,022 (GRCm39)	R73W	probably damaging	Het
Zfp219	T	C	14: 52,246,512 (GRCm39)	E160G	probably damaging	Het
Zfp804b	G	T	5: 7,229,533 (GRCm39)		probably benign	Het
Zscan22	C	A	7: 12,640,730 (GRCm39)	P325T	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
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
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'- TTTGACACAGACCCTGACTGCAC -3'
(R):5'- GGGTTTCTTTAAGCAAGAGGAGGCG -3'

Sequencing Primer
(F):5'- GTTGAGGGTCAGACATGCC -3'
(R):5'- TGGGCGTGGTCTCATTCC -3'

Posted On

2014-05-09