Mutagenetix > Incidental Mutation

Incidental Mutation 'R3978:Slc15a1'

311152

Institutional Source

Beutler Lab

Gene Symbol

Slc15a1

Ensembl Gene

ENSMUSG00000025557

Gene Name

solute carrier family 15 (oligopeptide transporter), member 1

Synonyms

PECT1, PEPT1

MMRRC Submission

040941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R3978 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121697033-121742664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121727239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 110 (D110N)

Ref Sequence

ENSEMBL: ENSMUSP00000085728 (fasta)

Gene Model

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

AlphaFold

Q9JIP7

Predicted Effect

probably benign
Transcript: ENSMUST00000088386
AA Change: D110N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: D110N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227372

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,435 (GRCm39)	T61A	probably benign	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Ano5	G	A	7: 51,237,554 (GRCm39)	V743I	probably benign	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
Arid2	A	G	15: 96,261,503 (GRCm39)	D453G	probably damaging	Het
Atp2b1	C	A	10: 98,832,795 (GRCm39)		probably null	Het
Azin1	A	T	15: 38,498,957 (GRCm39)	N135K	probably damaging	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Cfap54	T	C	10: 92,798,274 (GRCm39)	T1662A	probably benign	Het
Cog8	T	A	8: 107,779,669 (GRCm39)	I203F	probably damaging	Het
Col6a6	T	C	9: 105,576,078 (GRCm39)	H2094R	probably damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Dpyd	AAAT	AAATGTATATAAAT	3: 118,690,737 (GRCm39)		probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Eif3i	T	C	4: 129,486,129 (GRCm39)	E276G	probably damaging	Het
Fam171a1	A	C	2: 3,226,072 (GRCm39)	M402L	probably benign	Het
Fga	A	T	3: 82,937,490 (GRCm39)		probably null	Het
Foxp2	A	G	6: 15,197,207 (GRCm39)		probably benign	Het
Gbp2	C	T	3: 142,335,747 (GRCm39)	T149I	possibly damaging	Het
Gm9631	A	G	11: 121,834,394 (GRCm39)	Y281H	possibly damaging	Het
Gpr21	C	T	2: 37,407,862 (GRCm39)	T136I	probably benign	Het
Gprc5b	C	T	7: 118,583,354 (GRCm39)	V172M	probably damaging	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
Hdlbp	T	C	1: 93,349,073 (GRCm39)	I535V	probably damaging	Het
Helb	A	G	10: 119,925,530 (GRCm39)	V949A	probably benign	Het
Hoxc13	T	C	15: 102,829,675 (GRCm39)	V18A	possibly damaging	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Il27ra	G	A	8: 84,767,313 (GRCm39)	T170I	probably benign	Het
Insm2	T	C	12: 55,647,623 (GRCm39)	Y456H	probably benign	Het
Katna1	T	C	10: 7,628,518 (GRCm39)	M249T	probably damaging	Het
Lin9	T	A	1: 180,496,357 (GRCm39)	I298N	possibly damaging	Het
Lyst	G	A	13: 13,808,753 (GRCm39)	R141Q	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or5p61	A	G	7: 107,758,819 (GRCm39)	M87T	possibly damaging	Het
Pdgfrb	A	T	18: 61,206,757 (GRCm39)	H661L	probably damaging	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Ppp1ca	T	C	19: 4,242,253 (GRCm39)	I13T	probably benign	Het
Psmd1	T	C	1: 86,055,909 (GRCm39)	M757T	probably benign	Het
Rdh19	A	T	10: 127,685,944 (GRCm39)	R19W	possibly damaging	Het
Rfx7	A	G	9: 72,522,393 (GRCm39)	T296A	possibly damaging	Het
Rgl2	G	A	17: 34,154,136 (GRCm39)	R472H	probably benign	Het
Rhcg	T	C	7: 79,267,147 (GRCm39)	E43G	probably benign	Het
Rif1	T	A	2: 52,006,759 (GRCm39)		probably null	Het
Rorb	A	G	19: 18,915,254 (GRCm39)	V468A	probably benign	Het
Rxrb	C	T	17: 34,255,300 (GRCm39)	P209L	possibly damaging	Het
Sbf2	G	T	7: 109,929,092 (GRCm39)	T1438K	probably benign	Het
Setd3	A	T	12: 108,124,201 (GRCm39)	C163S	possibly damaging	Het
Slc26a3	T	A	12: 31,515,859 (GRCm39)		probably null	Het
Slc5a5	A	G	8: 71,342,039 (GRCm39)	V305A	probably benign	Het
Slc6a6	A	T	6: 91,732,033 (GRCm39)	M621L	probably benign	Het
Smgc	A	T	15: 91,744,546 (GRCm39)	D301V	probably damaging	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Syt15	T	A	14: 33,945,061 (GRCm39)	C203S	probably benign	Het
Tdrd1	A	G	19: 56,855,066 (GRCm39)	R1171G	probably benign	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Tspan9	A	G	6: 127,944,210 (GRCm39)	V30A	probably damaging	Het
Ubp1	A	T	9: 113,785,773 (GRCm39)		probably null	Het
Vmn2r68	T	A	7: 84,881,670 (GRCm39)	Y470F	probably benign	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		probably null	Het
Wee1	G	T	7: 109,723,762 (GRCm39)	D226Y	probably damaging	Het
Yap1	C	T	9: 8,004,285 (GRCm39)	G36D	probably damaging	Het
Zmym6	T	C	4: 127,017,348 (GRCm39)	I951T	possibly damaging	Het

Other mutations in Slc15a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01337:Slc15a1	APN	14	121,698,091 (GRCm39)	missense	possibly damaging	0.95
IGL01534:Slc15a1	APN	14	121,702,364 (GRCm39)	missense	possibly damaging	0.95
IGL01783:Slc15a1	APN	14	121,708,688 (GRCm39)	critical splice donor site	probably null
IGL01799:Slc15a1	APN	14	121,718,141 (GRCm39)	missense	possibly damaging	0.76
IGL02064:Slc15a1	APN	14	121,699,886 (GRCm39)	missense	probably benign	0.20
IGL02064:Slc15a1	APN	14	121,699,911 (GRCm39)	missense	possibly damaging	0.66
IGL02115:Slc15a1	APN	14	121,718,073 (GRCm39)	missense	possibly damaging	0.61
IGL02514:Slc15a1	APN	14	121,724,452 (GRCm39)	missense	probably damaging	1.00
IGL03056:Slc15a1	APN	14	121,728,695 (GRCm39)	missense	possibly damaging	0.82
IGL03297:Slc15a1	APN	14	121,724,096 (GRCm39)	missense	probably damaging	1.00
R1484:Slc15a1	UTSW	14	121,728,651 (GRCm39)	nonsense	probably null
R1532:Slc15a1	UTSW	14	121,713,396 (GRCm39)	missense	possibly damaging	0.79
R1655:Slc15a1	UTSW	14	121,703,311 (GRCm39)	missense	probably benign	0.34
R2013:Slc15a1	UTSW	14	121,713,399 (GRCm39)	missense	possibly damaging	0.88
R2270:Slc15a1	UTSW	14	121,717,406 (GRCm39)	missense	probably damaging	0.99
R2878:Slc15a1	UTSW	14	121,703,345 (GRCm39)	missense	probably benign	0.00
R2986:Slc15a1	UTSW	14	121,727,221 (GRCm39)	missense	probably benign	0.02
R3862:Slc15a1	UTSW	14	121,722,269 (GRCm39)	missense	probably benign	0.06
R3863:Slc15a1	UTSW	14	121,722,269 (GRCm39)	missense	probably benign	0.06
R4184:Slc15a1	UTSW	14	121,703,574 (GRCm39)	missense	probably benign	0.00
R4573:Slc15a1	UTSW	14	121,724,441 (GRCm39)	missense	probably damaging	0.99
R4604:Slc15a1	UTSW	14	121,727,319 (GRCm39)	missense	probably damaging	1.00
R4649:Slc15a1	UTSW	14	121,715,504 (GRCm39)	missense	probably damaging	1.00
R5838:Slc15a1	UTSW	14	121,722,283 (GRCm39)	missense	probably damaging	1.00
R6221:Slc15a1	UTSW	14	121,702,316 (GRCm39)	missense	probably null	1.00
R6891:Slc15a1	UTSW	14	121,713,442 (GRCm39)	missense	probably benign	0.00
R7626:Slc15a1	UTSW	14	121,713,377 (GRCm39)	missense	probably benign	0.13
R7836:Slc15a1	UTSW	14	121,718,145 (GRCm39)	nonsense	probably null
R8284:Slc15a1	UTSW	14	121,727,275 (GRCm39)	missense	probably benign	0.01
R8376:Slc15a1	UTSW	14	121,718,115 (GRCm39)	missense	probably benign
R8408:Slc15a1	UTSW	14	121,715,528 (GRCm39)	missense	possibly damaging	0.91
R8774:Slc15a1	UTSW	14	121,724,423 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Slc15a1	UTSW	14	121,724,423 (GRCm39)	missense	probably damaging	1.00
R8933:Slc15a1	UTSW	14	121,724,091 (GRCm39)	missense	probably benign	0.00
R9157:Slc15a1	UTSW	14	121,702,389 (GRCm39)	missense	probably benign	0.08
Z1088:Slc15a1	UTSW	14	121,728,456 (GRCm39)	missense	probably damaging	1.00
Z1088:Slc15a1	UTSW	14	121,717,466 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CTCAACTCTAGTCACAGTGAGC -3'
(R):5'- GCTCTTCAAAGCTCTGTAGGAG -3'

Sequencing Primer
(F):5'- CTCTAGTCACAGTGAGCAGACATTAG -3'
(R):5'- TTCAAAGCTCTGTAGGAGGAAGAAAG -3'

Posted On

2015-04-29