Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00703:Slc15a2'

14043

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

Pept2, 8430408C16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL00703

Quality Score

Status

Chromosome

Chromosomal Location

36570539-36605324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36578153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 379 (I379V)

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 benign
Transcript: ENSMUST00000023616
AA Change: I410V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
AA Change: I410V

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: ENSMUST00000100308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164770

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 benign
Transcript: ENSMUST00000165531
AA Change: I379V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
AA Change: I379V

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: ENSMUST00000167909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167941

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Bdkrb2	T	C	12: 105,558,614 (GRCm39)	V285A	probably benign	Het
Cdc42se1	A	G	3: 95,139,856 (GRCm39)		probably benign	Het
Dimt1	T	C	13: 107,089,938 (GRCm39)		probably benign	Het
Gpx8	T	C	13: 113,182,047 (GRCm39)	N129D	possibly damaging	Het
Ikbke	A	T	1: 131,183,039 (GRCm39)		probably benign	Het
Mast4	C	A	13: 102,907,275 (GRCm39)	E558*	probably null	Het
Mybpc1	T	C	10: 88,360,970 (GRCm39)		probably null	Het
Nrg3	T	A	14: 38,092,758 (GRCm39)	D609V	probably damaging	Het
Palmd	A	G	3: 116,721,040 (GRCm39)		probably benign	Het
Ppp1r3a	T	C	6: 14,718,407 (GRCm39)	T836A	probably benign	Het
Ptms	T	C	6: 124,891,919 (GRCm39)		probably benign	Het
Rnf170	A	G	8: 26,615,946 (GRCm39)	N79S	probably damaging	Het
Slco1b2	A	T	6: 141,601,078 (GRCm39)	T134S	probably damaging	Het
Tg	G	A	15: 66,568,338 (GRCm39)	V1342I	probably benign	Het
Tsc22d1	A	G	14: 76,742,268 (GRCm39)	R38G	possibly damaging	Het
Ufl1	A	G	4: 25,280,631 (GRCm39)	V72A	possibly damaging	Het
Ugt2b35	A	T	5: 87,156,051 (GRCm39)	Y381F	probably benign	Het
Vil1	T	C	1: 74,463,119 (GRCm39)	L434P	possibly damaging	Het

Other mutations in Slc15a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Slc15a2	APN	16	36,574,137 (GRCm39)	missense	probably benign	0.00
IGL00937:Slc15a2	APN	16	36,572,242 (GRCm39)	nonsense	probably null
IGL01511:Slc15a2	APN	16	36,605,088 (GRCm39)	missense	probably damaging	0.99
IGL01739:Slc15a2	APN	16	36,576,592 (GRCm39)	missense	probably benign
IGL02069:Slc15a2	APN	16	36,579,613 (GRCm39)	missense	probably benign	0.02
IGL02076:Slc15a2	APN	16	36,582,743 (GRCm39)	missense	probably damaging	1.00
IGL02254:Slc15a2	APN	16	36,580,449 (GRCm39)	missense	possibly damaging	0.93
IGL02387:Slc15a2	APN	16	36,572,137 (GRCm39)	splice site	probably null
IGL02507:Slc15a2	APN	16	36,602,021 (GRCm39)	missense	possibly damaging	0.87
IGL02829:Slc15a2	APN	16	36,577,555 (GRCm39)	missense	possibly damaging	0.92
IGL03114:Slc15a2	APN	16	36,572,267 (GRCm39)	missense	probably damaging	1.00
IGL03227:Slc15a2	APN	16	36,576,410 (GRCm39)	critical splice donor site	probably null
PIT4581001:Slc15a2	UTSW	16	36,592,405 (GRCm39)	missense	probably benign
R0058:Slc15a2	UTSW	16	36,574,909 (GRCm39)	missense	probably benign	0.08
R0058:Slc15a2	UTSW	16	36,574,909 (GRCm39)	missense	probably benign	0.08
R0083:Slc15a2	UTSW	16	36,602,645 (GRCm39)	missense	probably damaging	1.00
R0099:Slc15a2	UTSW	16	36,573,398 (GRCm39)	missense	probably damaging	1.00
R0104:Slc15a2	UTSW	16	36,594,997 (GRCm39)	missense	possibly damaging	0.79
R0402:Slc15a2	UTSW	16	36,595,960 (GRCm39)	missense	probably benign	0.00
R0619:Slc15a2	UTSW	16	36,579,669 (GRCm39)	missense	probably damaging	1.00
R0963:Slc15a2	UTSW	16	36,594,935 (GRCm39)	missense	probably damaging	1.00
R0972:Slc15a2	UTSW	16	36,577,501 (GRCm39)	missense	probably benign	0.00
R1440:Slc15a2	UTSW	16	36,605,005 (GRCm39)	splice site	probably benign
R1471:Slc15a2	UTSW	16	36,574,153 (GRCm39)	missense	probably damaging	0.99
R1569:Slc15a2	UTSW	16	36,576,745 (GRCm39)	missense	probably benign	0.00
R1616:Slc15a2	UTSW	16	36,574,843 (GRCm39)	missense	probably benign
R2246:Slc15a2	UTSW	16	36,582,723 (GRCm39)	missense	probably damaging	1.00
R2405:Slc15a2	UTSW	16	36,572,199 (GRCm39)	nonsense	probably null
R3834:Slc15a2	UTSW	16	36,592,490 (GRCm39)	nonsense	probably null
R3835:Slc15a2	UTSW	16	36,592,490 (GRCm39)	nonsense	probably null
R3885:Slc15a2	UTSW	16	36,602,666 (GRCm39)	missense	probably damaging	1.00
R3887:Slc15a2	UTSW	16	36,602,666 (GRCm39)	missense	probably damaging	1.00
R3888:Slc15a2	UTSW	16	36,602,666 (GRCm39)	missense	probably damaging	1.00
R3889:Slc15a2	UTSW	16	36,602,666 (GRCm39)	missense	probably damaging	1.00
R4105:Slc15a2	UTSW	16	36,602,755 (GRCm39)	intron	probably benign
R4108:Slc15a2	UTSW	16	36,602,755 (GRCm39)	intron	probably benign
R4254:Slc15a2	UTSW	16	36,574,852 (GRCm39)	missense	probably benign	0.04
R4352:Slc15a2	UTSW	16	36,592,390 (GRCm39)	missense	probably benign	0.08
R4684:Slc15a2	UTSW	16	36,578,211 (GRCm39)	missense	probably damaging	1.00
R4747:Slc15a2	UTSW	16	36,592,498 (GRCm39)	missense	probably damaging	0.98
R4774:Slc15a2	UTSW	16	36,602,057 (GRCm39)	nonsense	probably null
R5151:Slc15a2	UTSW	16	36,572,659 (GRCm39)	missense	probably damaging	1.00
R5503:Slc15a2	UTSW	16	36,582,747 (GRCm39)	missense	probably damaging	1.00
R5649:Slc15a2	UTSW	16	36,592,472 (GRCm39)	nonsense	probably null
R6003:Slc15a2	UTSW	16	36,574,910 (GRCm39)	missense	probably benign	0.00
R6261:Slc15a2	UTSW	16	36,581,973 (GRCm39)	missense	probably benign	0.25
R6329:Slc15a2	UTSW	16	36,572,144 (GRCm39)	missense	possibly damaging	0.94
R6409:Slc15a2	UTSW	16	36,582,232 (GRCm39)	missense	probably benign	0.00
R6523:Slc15a2	UTSW	16	36,572,683 (GRCm39)	missense	probably benign	0.17
R7125:Slc15a2	UTSW	16	36,602,660 (GRCm39)	missense	probably damaging	1.00
R7208:Slc15a2	UTSW	16	36,576,643 (GRCm39)	missense	probably benign	0.02
R7234:Slc15a2	UTSW	16	36,578,173 (GRCm39)	missense	probably benign	0.05
R7374:Slc15a2	UTSW	16	36,572,207 (GRCm39)	missense	probably benign	0.01
R7545:Slc15a2	UTSW	16	36,595,964 (GRCm39)	missense	probably damaging	1.00
R7559:Slc15a2	UTSW	16	36,572,259 (GRCm39)	missense	probably benign
R7611:Slc15a2	UTSW	16	36,576,673 (GRCm39)	missense	probably benign	0.18
R7787:Slc15a2	UTSW	16	36,572,228 (GRCm39)	missense	probably benign	0.02
R7825:Slc15a2	UTSW	16	36,573,396 (GRCm39)	missense	possibly damaging	0.94
R8324:Slc15a2	UTSW	16	36,579,669 (GRCm39)	missense	probably damaging	1.00
R9035:Slc15a2	UTSW	16	36,602,719 (GRCm39)	missense	possibly damaging	0.82
R9037:Slc15a2	UTSW	16	36,582,725 (GRCm39)	missense	probably benign	0.11
R9212:Slc15a2	UTSW	16	36,602,053 (GRCm39)	nonsense	probably null
R9273:Slc15a2	UTSW	16	36,574,090 (GRCm39)	missense	probably benign	0.01
R9363:Slc15a2	UTSW	16	36,572,672 (GRCm39)	missense	possibly damaging	0.91
R9368:Slc15a2	UTSW	16	36,574,080 (GRCm39)	missense	probably benign	0.00
R9488:Slc15a2	UTSW	16	36,579,651 (GRCm39)	missense	probably benign	0.02
T0722:Slc15a2	UTSW	16	36,772,445 (GRCm38)	missense	probably benign
V8831:Slc15a2	UTSW	16	36,772,445 (GRCm38)	missense	probably benign
X0066:Slc15a2	UTSW	16	36,574,151 (GRCm39)	nonsense	probably null
Z1088:Slc15a2	UTSW	16	36,772,445 (GRCm38)	missense	probably benign
Z1176:Slc15a2	UTSW	16	36,772,445 (GRCm38)	missense	probably benign
Z1176:Slc15a2	UTSW	16	36,579,678 (GRCm39)	critical splice acceptor site	probably null
Z1177:Slc15a2	UTSW	16	36,605,049 (GRCm39)	frame shift	probably null
Z1177:Slc15a2	UTSW	16	36,772,445 (GRCm38)	missense	probably benign

Posted On

2012-12-06