Mutagenetix > Incidental Mutation

Incidental Mutation 'R0104:Slc15a2'

16325

Institutional Source

Beutler Lab

Gene Symbol

Slc15a2

Ensembl Gene

ENSMUSG00000022899

Gene Name

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

Synonyms

Pept2, 8430408C16Rik

MMRRC Submission

038390-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R0104 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

36570539-36605324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36594997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 156 (L156F)

Ref Sequence

ENSEMBL: ENSMUSP00000023616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023616] [ENSMUST00000164579] [ENSMUST00000165380] [ENSMUST00000165531] [ENSMUST00000168279]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023616
AA Change: L156F

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
AA Change: L156F

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

probably benign
Transcript: ENSMUST00000164579
AA Change: L156F

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132029
Gene: ENSMUSG00000022899
AA Change: L156F

Domain	Start	End	E-Value	Type
low complexity region	35	47	N/A	INTRINSIC
Pfam:PTR2	122	244	7.3e-51	PFAM

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

possibly damaging
Transcript: ENSMUST00000165531
AA Change: L125F

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
AA Change: L125F

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: ENSMUST00000166399

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168279
AA Change: L156F

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132885
Gene: ENSMUSG00000022899
AA Change: L156F

Domain	Start	End	E-Value	Type
low complexity region	35	47	N/A	INTRINSIC
Pfam:PTR2	122	189	4.1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171395

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 75.5%
3x: 52.6%
10x: 7.5%
20x: 3.0%

Validation Efficiency

100% (37/37)

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	C	A	4: 124,504,469 (GRCm39)	A28S	probably damaging	Het
Arhgap5	A	T	12: 52,563,500 (GRCm39)	D157V	probably damaging	Het
Cfap54	G	T	10: 92,864,514 (GRCm39)	H142N	probably damaging	Het
Dpp10	A	T	1: 123,295,572 (GRCm39)	M525K	probably benign	Het
Fsip2	A	T	2: 82,809,317 (GRCm39)	T1879S	possibly damaging	Het
Gm14129	T	C	2: 148,773,493 (GRCm39)		noncoding transcript	Het
Ighv2-7	A	T	12: 113,771,088 (GRCm39)	W66R	probably damaging	Het
Kif11	T	A	19: 37,401,663 (GRCm39)	V880D	probably benign	Het
Mcpt1	T	A	14: 56,256,888 (GRCm39)	M142K	possibly damaging	Het
Mlst8	T	C	17: 24,695,091 (GRCm39)	N264S	possibly damaging	Het
Nmrk1	T	A	19: 18,618,582 (GRCm39)	S88R	probably benign	Het
Or14j2	T	A	17: 37,885,817 (GRCm39)	I166F	probably damaging	Het
Or8d23	A	G	9: 38,842,261 (GRCm39)	S265G	possibly damaging	Het
Rtn1	A	T	12: 72,355,619 (GRCm39)	I109N	probably damaging	Het
Slc22a21	A	C	11: 53,842,635 (GRCm39)	M498R	probably null	Het
Ssc5d	T	C	7: 4,939,285 (GRCm39)	S574P	probably benign	Het
Taf2	T	C	15: 54,901,734 (GRCm39)	D820G	probably benign	Het
Tas2r135	A	T	6: 42,383,258 (GRCm39)	I266F	possibly damaging	Het
Trgv4	C	T	13: 19,369,480 (GRCm39)	H75Y	probably damaging	Het
Vil1	A	G	1: 74,457,525 (GRCm39)	K53E	probably benign	Het
Zfc3h1	T	A	10: 115,251,192 (GRCm39)	M1261K	possibly damaging	Het
Zfp655	T	C	5: 145,180,825 (GRCm39)	S228P	probably damaging	Het
Zfyve9	C	A	4: 108,575,360 (GRCm39)	D574Y	probably 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
IGL00703:Slc15a2	APN	16	36,578,153 (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
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

2013-01-20