Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00937:Slc15a2'

29155

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc15a2

Ensembl Gene

ENSMUSG00000022899

Gene Name

solute carrier family 15 (H+/peptide transporter), member 2

Synonyms

8430408C16Rik, Pept2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

IGL00937

Quality Score

Status

Chromosome

Chromosomal Location

36750177-36784962 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 36751880 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 676 (Y676*)

Ref Sequence

ENSEMBL: ENSMUSP00000132663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023616] [ENSMUST00000165380] [ENSMUST00000165531]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000023616
AA Change: Y707*

SMART Domains

Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
AA Change: Y707*

Domain	Start	End	E-Value	Type
low complexity region	35	47	N/A	INTRINSIC
Pfam:PTR2	122	500	1.7e-122	PFAM
Pfam:PTR2	593	686	2.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163964

Predicted Effect

probably benign
Transcript: ENSMUST00000165380

SMART Domains

Protein: ENSMUSP00000131395
Gene: ENSMUSG00000022899

Domain	Start	End	E-Value	Type
low complexity region	35	47	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000165531
AA Change: Y676*

SMART Domains

Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
AA Change: Y676*

Domain	Start	End	E-Value	Type
low complexity region	35	47	N/A	INTRINSIC
Pfam:PTR2	99	469	2.4e-105	PFAM
PDB:2XUT\|C	583	642	3e-10	PDB
transmembrane domain	655	677	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172382

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mammalian kidney expresses a proton-coupled peptide transporter that is responsible for the absorption of small peptides, as well as beta-lactam antibiotics and other peptide-like drugs, from the tubular filtrate. This transporter, SLC15A2, belongs to the same gene family as SLC15A1 (MIM 600544), the proton-coupled peptide transporter found in the small intestine (Liu et al, 1995 [PubMed 7756356]).[supplied by OMIM, Feb 2011]
PHENOTYPE: Homozygous mutant mice have impairments of dipeptide transportion, however, show no gross defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cc2d2a	A	T	5: 43,688,122		probably null	Het
Cd34	A	G	1: 194,960,114	E381G	probably damaging	Het
Chka	A	G	19: 3,892,189	E381G	probably benign	Het
Dennd1b	T	A	1: 139,170,239	C673S	probably benign	Het
E130308A19Rik	G	A	4: 59,690,846	A227T	probably benign	Het
F13b	T	A	1: 139,517,360		probably benign	Het
Hipk3	T	C	2: 104,433,172	N933D	possibly damaging	Het
Mmp27	T	C	9: 7,578,899		probably benign	Het
Nod1	C	T	6: 54,937,364	V815I	probably benign	Het
Olfr411	C	T	11: 74,347,429	V52I	probably benign	Het
Olfr448	T	A	6: 42,896,634	F61Y	probably damaging	Het
Olfr552	T	A	7: 102,604,357	M1K	probably null	Het
Olfr555	T	A	7: 102,659,348	S176T	probably damaging	Het
Olfr613	C	A	7: 103,551,857	A24E	probably damaging	Het
Olfr697	T	A	7: 106,741,157	Y259F	probably damaging	Het
Pms1	T	A	1: 53,275,251	E45V	possibly damaging	Het
Prkcsh	T	C	9: 22,006,565	S126P	possibly damaging	Het
Pros1	A	T	16: 62,910,045	L299F	probably damaging	Het
Scrn1	A	G	6: 54,520,733	I291T	probably benign	Het
Tenm2	A	C	11: 36,024,623	V2028G	probably damaging	Het
Trpa1	T	C	1: 14,880,277		probably benign	Het

Other mutations in Slc15a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Slc15a2	APN	16	36753775	missense	probably benign	0.00
IGL00703:Slc15a2	APN	16	36757791	missense	probably benign	0.00
IGL01511:Slc15a2	APN	16	36784726	missense	probably damaging	0.99
IGL01739:Slc15a2	APN	16	36756230	missense	probably benign
IGL02069:Slc15a2	APN	16	36759251	missense	probably benign	0.02
IGL02076:Slc15a2	APN	16	36762381	missense	probably damaging	1.00
IGL02254:Slc15a2	APN	16	36760087	missense	possibly damaging	0.93
IGL02387:Slc15a2	APN	16	36751775	splice site	probably null
IGL02507:Slc15a2	APN	16	36781659	missense	possibly damaging	0.87
IGL02829:Slc15a2	APN	16	36757193	missense	possibly damaging	0.92
IGL03114:Slc15a2	APN	16	36751905	missense	probably damaging	1.00
IGL03227:Slc15a2	APN	16	36756048	critical splice donor site	probably null
PIT4581001:Slc15a2	UTSW	16	36772043	missense	probably benign
R0058:Slc15a2	UTSW	16	36754547	missense	probably benign	0.08
R0058:Slc15a2	UTSW	16	36754547	missense	probably benign	0.08
R0083:Slc15a2	UTSW	16	36782283	missense	probably damaging	1.00
R0099:Slc15a2	UTSW	16	36753036	missense	probably damaging	1.00
R0104:Slc15a2	UTSW	16	36774635	missense	possibly damaging	0.79
R0402:Slc15a2	UTSW	16	36775598	missense	probably benign	0.00
R0619:Slc15a2	UTSW	16	36759307	missense	probably damaging	1.00
R0963:Slc15a2	UTSW	16	36774573	missense	probably damaging	1.00
R0972:Slc15a2	UTSW	16	36757139	missense	probably benign	0.00
R1440:Slc15a2	UTSW	16	36784643	splice site	probably benign
R1471:Slc15a2	UTSW	16	36753791	missense	probably damaging	0.99
R1569:Slc15a2	UTSW	16	36756383	missense	probably benign	0.00
R1616:Slc15a2	UTSW	16	36754481	missense	probably benign
R2246:Slc15a2	UTSW	16	36762361	missense	probably damaging	1.00
R2405:Slc15a2	UTSW	16	36751837	nonsense	probably null
R3834:Slc15a2	UTSW	16	36772128	nonsense	probably null
R3835:Slc15a2	UTSW	16	36772128	nonsense	probably null
R3885:Slc15a2	UTSW	16	36782304	missense	probably damaging	1.00
R3887:Slc15a2	UTSW	16	36782304	missense	probably damaging	1.00
R3888:Slc15a2	UTSW	16	36782304	missense	probably damaging	1.00
R3889:Slc15a2	UTSW	16	36782304	missense	probably damaging	1.00
R4105:Slc15a2	UTSW	16	36782393	intron	probably benign
R4108:Slc15a2	UTSW	16	36782393	intron	probably benign
R4254:Slc15a2	UTSW	16	36754490	missense	probably benign	0.04
R4352:Slc15a2	UTSW	16	36772028	missense	probably benign	0.08
R4684:Slc15a2	UTSW	16	36757849	missense	probably damaging	1.00
R4747:Slc15a2	UTSW	16	36772136	missense	probably damaging	0.98
R4774:Slc15a2	UTSW	16	36781695	nonsense	probably null
R5151:Slc15a2	UTSW	16	36752297	missense	probably damaging	1.00
R5503:Slc15a2	UTSW	16	36762385	missense	probably damaging	1.00
R5649:Slc15a2	UTSW	16	36772110	nonsense	probably null
R6003:Slc15a2	UTSW	16	36754548	missense	probably benign	0.00
R6261:Slc15a2	UTSW	16	36761611	missense	probably benign	0.25
R6329:Slc15a2	UTSW	16	36751782	missense	possibly damaging	0.94
R6409:Slc15a2	UTSW	16	36761870	missense	probably benign	0.00
R6523:Slc15a2	UTSW	16	36752321	missense	probably benign	0.17
R7125:Slc15a2	UTSW	16	36782298	missense	probably damaging	1.00
R7208:Slc15a2	UTSW	16	36756281	missense	probably benign	0.02
R7234:Slc15a2	UTSW	16	36757811	missense	probably benign	0.05
R7374:Slc15a2	UTSW	16	36751845	missense	probably benign	0.01
R7545:Slc15a2	UTSW	16	36775602	missense	probably damaging	1.00
R7559:Slc15a2	UTSW	16	36751897	missense	probably benign
R7611:Slc15a2	UTSW	16	36756311	missense	probably benign	0.18
R7787:Slc15a2	UTSW	16	36751866	missense	probably benign	0.02
R7825:Slc15a2	UTSW	16	36753034	missense	possibly damaging	0.94
R8324:Slc15a2	UTSW	16	36759307	missense	probably damaging	1.00
R9035:Slc15a2	UTSW	16	36782357	missense	possibly damaging	0.82
R9037:Slc15a2	UTSW	16	36762363	missense	probably benign	0.11
R9212:Slc15a2	UTSW	16	36781691	nonsense	probably null
R9273:Slc15a2	UTSW	16	36753728	missense	probably benign	0.01
R9363:Slc15a2	UTSW	16	36752310	missense	possibly damaging	0.91
R9368:Slc15a2	UTSW	16	36753718	missense	probably benign	0.00
R9488:Slc15a2	UTSW	16	36759289	missense	probably benign	0.02
T0722:Slc15a2	UTSW	16	36772445	missense	probably benign
V8831:Slc15a2	UTSW	16	36772445	missense	probably benign
X0066:Slc15a2	UTSW	16	36753789	nonsense	probably null
Z1088:Slc15a2	UTSW	16	36772445	missense	probably benign
Z1176:Slc15a2	UTSW	16	36759316	critical splice acceptor site	probably null
Z1176:Slc15a2	UTSW	16	36772445	missense	probably benign
Z1177:Slc15a2	UTSW	16	36772445	missense	probably benign
Z1177:Slc15a2	UTSW	16	36784687	frame shift	probably null

Genotyping

Genomic DNA sequencing trace file. Chr. + strand shown. The mutation is an A>T transversion on the Chr. + strand.

IGL00937:Slc15a2 genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transition.

PCR Primers

Slc15a20001_F: 5’- AGATACTGGGCCAGCTTGAGAGAC-3’

Slc15a20001_R: 5’- GCCAAGGAAATGCCTCCAAGTGATG-3’

Sequencing Primer

Slc15a20001_R1: 5’- GAAATGCCTCCAAGTGATGATTCC-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C ∞

The following sequence of 562 nucleotides is amplified (Chr.16: 36751511-36752072, GRCm38; NC_000082):

1 agatactggg ccagcttgag agacattgcc taatatttac tgagtttatc aatagcctgt

61 aggacacgga gtcttggatc cttgtttaaa gatatacctg aaaaccttgt cctaaaattg

121 cctctattgt ggtagaaaat ggaggcaatc cactcagata aatgctgtct ccttctctaa

181 cctggccaga ggggggaaaa aattgttgct tgaagataag cgatggctga tatcagagcc

241 aggggtcagt ctccatccag tgagtcatca gagccttgta ttcttggttt ctaggttgat

301 catattcccc tggatgtgag gaatctgctt ttctgttgcc tcatggatac cctctgactt

361 tagaggaaca tagtagtagc ccatgacgga gaagatcagg cagaccacca gcaggaggca

421 ggaaaacaaa acgaattcag cccactgcag ggagaaatga accaaaggga agattatgga

481 gaaaccttat ttaacaatag agctaggagt ggagagatgg gaagatggct aaggaatcat

541 cacttggagg catttccttg gc

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (A>T, Chr. (+) strand; T>A, sense strand).

Posted On

2013-04-17