Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02064:Slc15a1'

185539

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc15a1

Ensembl Gene

ENSMUSG00000025557

Gene Name

solute carrier family 15 (oligopeptide transporter), member 1

Synonyms

PECT1, PEPT1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02064

Quality Score

Status

Chromosome

Chromosomal Location

121459621-121505252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121462474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 644 (P644H)

Ref Sequence

ENSEMBL: ENSMUSP00000085728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088386]

AlphaFold

Q9JIP7

Predicted Effect

probably benign
Transcript: ENSMUST00000088386
AA Change: P644H

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: P644H

Domain	Start	End	E-Value	Type
Pfam:PTR2	81	477	1.9e-141	PFAM
Pfam:PTR2	562	644	4.2e-11	PFAM
transmembrane domain	650	672	N/A	INTRINSIC
low complexity region	684	695	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010]
PHENOTYPE: Peptide uptake in the intestine is substantially reduced in mice homozygous for a null mutation of this gene. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732456N10Rik	T	C	15: 101,562,653	H58R	possibly damaging	Het
Acap2	A	C	16: 31,127,328	W284G	probably damaging	Het
Acsf3	T	C	8: 122,780,247	L93P	possibly damaging	Het
Agbl2	G	T	2: 90,784,024		probably benign	Het
Arap3	C	T	18: 37,991,701	G242D	probably damaging	Het
Asxl3	G	A	18: 22,524,344	V1804I	possibly damaging	Het
BC025446	A	G	15: 75,221,656		probably benign	Het
Bnc1	C	A	7: 81,973,503	V659L	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Car9	A	G	4: 43,507,363	E103G	probably benign	Het
Chrm4	A	G	2: 91,927,831	T195A	probably damaging	Het
Cldn10	T	C	14: 118,855,012	I8T	probably damaging	Het
Col12a1	G	A	9: 79,692,372	S833F	probably benign	Het
Cryba2	T	A	1: 74,890,561	D139V	possibly damaging	Het
Emp1	T	A	6: 135,377,212	M1K	probably null	Het
Exosc4	C	A	15: 76,329,636	A220E	probably damaging	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fryl	A	G	5: 73,124,769		probably benign	Het
Gm8298	T	C	3: 59,877,042	L312P	probably damaging	Het
Grid2	C	T	6: 64,063,935	T287I	probably benign	Het
Grifin	C	T	5: 140,564,739	A7T	probably damaging	Het
Gzmg	T	C	14: 56,157,341	K157E	probably benign	Het
Kcnq2	A	T	2: 181,109,026	I340N	probably damaging	Het
Klrb1	T	A	6: 128,710,637	H98L	probably benign	Het
Krtap5-2	C	A	7: 142,175,731	G71C	unknown	Het
Krtap7-1	A	T	16: 89,508,123	M47K	probably benign	Het
Lmntd1	T	A	6: 145,427,276		probably null	Het
Musk	A	G	4: 58,286,128	N6S	possibly damaging	Het
Olfr169	A	G	16: 19,566,548	C112R	probably damaging	Het
Olfr33	A	G	7: 102,713,601	F271L	probably damaging	Het
Olfr482	T	G	7: 108,095,247	T108P	probably benign	Het
Olfr682-ps1	A	T	7: 105,127,034	F89Y	possibly damaging	Het
Olfr893	T	A	9: 38,209,578	I122N	probably damaging	Het
Pcdh19	A	G	X: 133,685,970	M432T	probably benign	Het
Prdm1	A	G	10: 44,441,342	F495S	probably damaging	Het
Prkar2a	T	C	9: 108,733,204	Y211H	possibly damaging	Het
Ralgapa1	C	A	12: 55,708,077	G1143V	probably damaging	Het
Rbbp7	A	G	X: 162,769,787		probably null	Het
Scel	C	A	14: 103,533,326	H65Q	probably damaging	Het
Sec24d	T	C	3: 123,343,814		probably benign	Het
Sfswap	C	A	5: 129,560,796	T839N	probably benign	Het
Slc6a21	T	A	7: 45,286,459	I38N	possibly damaging	Het
Sucla2	C	T	14: 73,579,473	Q218*	probably null	Het
Tbc1d14	A	T	5: 36,507,675	L237*	probably null	Het
Trpm7	C	T	2: 126,797,943	E1578K	probably damaging	Het
Ttc17	G	A	2: 94,330,667	T896I	probably damaging	Het
Virma	A	G	4: 11,513,163	D339G	possibly damaging	Het
Vmn2r54	T	A	7: 12,615,606	Y683F	probably benign	Het
Xrra1	T	A	7: 99,914,204	L466Q	probably damaging	Het

Other mutations in Slc15a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01337:Slc15a1	APN	14	121460679	missense	possibly damaging	0.95
IGL01534:Slc15a1	APN	14	121464952	missense	possibly damaging	0.95
IGL01783:Slc15a1	APN	14	121471276	critical splice donor site	probably null
IGL01799:Slc15a1	APN	14	121480729	missense	possibly damaging	0.76
IGL02064:Slc15a1	APN	14	121462499	missense	possibly damaging	0.66
IGL02115:Slc15a1	APN	14	121480661	missense	possibly damaging	0.61
IGL02514:Slc15a1	APN	14	121487040	missense	probably damaging	1.00
IGL03056:Slc15a1	APN	14	121491283	missense	possibly damaging	0.82
IGL03297:Slc15a1	APN	14	121486684	missense	probably damaging	1.00
R1484:Slc15a1	UTSW	14	121491239	nonsense	probably null
R1532:Slc15a1	UTSW	14	121475984	missense	possibly damaging	0.79
R1655:Slc15a1	UTSW	14	121465899	missense	probably benign	0.34
R2013:Slc15a1	UTSW	14	121475987	missense	possibly damaging	0.88
R2270:Slc15a1	UTSW	14	121479994	missense	probably damaging	0.99
R2878:Slc15a1	UTSW	14	121465933	missense	probably benign	0.00
R2986:Slc15a1	UTSW	14	121489809	missense	probably benign	0.02
R3862:Slc15a1	UTSW	14	121484857	missense	probably benign	0.06
R3863:Slc15a1	UTSW	14	121484857	missense	probably benign	0.06
R3978:Slc15a1	UTSW	14	121489827	missense	probably benign	0.00
R4184:Slc15a1	UTSW	14	121466162	missense	probably benign	0.00
R4573:Slc15a1	UTSW	14	121487029	missense	probably damaging	0.99
R4604:Slc15a1	UTSW	14	121489907	missense	probably damaging	1.00
R4649:Slc15a1	UTSW	14	121478092	missense	probably damaging	1.00
R5838:Slc15a1	UTSW	14	121484871	missense	probably damaging	1.00
R6221:Slc15a1	UTSW	14	121464904	missense	probably null	1.00
R6891:Slc15a1	UTSW	14	121476030	missense	probably benign	0.00
R7626:Slc15a1	UTSW	14	121475965	missense	probably benign	0.13
R7836:Slc15a1	UTSW	14	121480733	nonsense	probably null
R8284:Slc15a1	UTSW	14	121489863	missense	probably benign	0.01
R8376:Slc15a1	UTSW	14	121480703	missense	probably benign
R8408:Slc15a1	UTSW	14	121478116	missense	possibly damaging	0.91
R8774:Slc15a1	UTSW	14	121487011	missense	probably damaging	1.00
R8774-TAIL:Slc15a1	UTSW	14	121487011	missense	probably damaging	1.00
R8933:Slc15a1	UTSW	14	121486679	missense	probably benign	0.00
R9157:Slc15a1	UTSW	14	121464977	missense	probably benign	0.08
Z1088:Slc15a1	UTSW	14	121480054	missense	probably benign	0.09
Z1088:Slc15a1	UTSW	14	121491044	missense	probably damaging	1.00

Posted On

2014-05-07