Mutagenetix > Incidental Mutation

Incidental Mutation 'R7626:Slc15a1'

589469

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

045690-MU

Accession Numbers

Essential gene?

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

Stock #

R7626 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121697033-121742664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121713377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 383 (D383E)

Ref Sequence

ENSEMBL: ENSMUSP00000085728 (fasta)

Gene Model

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

AlphaFold

Q9JIP7

Predicted Effect

probably benign
Transcript: ENSMUST00000088386
AA Change: D383E

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: D383E

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Alox5	T	C	6: 116,390,756 (GRCm39)	D465G	possibly damaging	Het
Arhgef16	T	A	4: 154,367,339 (GRCm39)	K355N	possibly damaging	Het
Camkk2	T	A	5: 122,902,363 (GRCm39)		probably benign	Het
Ccdc171	C	T	4: 83,499,012 (GRCm39)	Q237*	probably null	Het
Ces2b	T	C	8: 105,564,017 (GRCm39)	Y464H	possibly damaging	Het
Cntfr	A	G	4: 41,662,013 (GRCm39)	F243S	possibly damaging	Het
Crip3	A	T	17: 46,740,791 (GRCm39)	R65S	probably benign	Het
Dcn	A	G	10: 97,319,340 (GRCm39)	Y39C	possibly damaging	Het
Degs2	T	C	12: 108,658,332 (GRCm39)	S216G	possibly damaging	Het
Dmxl1	A	G	18: 50,035,861 (GRCm39)	I2295V	probably benign	Het
Dnah2	A	G	11: 69,389,511 (GRCm39)	S794P	probably damaging	Het
Eri1	A	C	8: 35,941,554 (GRCm39)	Y264*	probably null	Het
Etl4	T	C	2: 20,718,189 (GRCm39)	L179P	probably damaging	Het
F5	T	G	1: 164,014,481 (GRCm39)	M584R	possibly damaging	Het
Fam98c	G	T	7: 28,852,248 (GRCm39)	R104S	probably damaging	Het
Flad1	A	T	3: 89,310,718 (GRCm39)	I443N	probably benign	Het
Hbp1	T	C	12: 31,993,899 (GRCm39)	E43G	probably benign	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Kcnj3	T	A	2: 55,484,833 (GRCm39)	C310*	probably null	Het
Lct	T	C	1: 128,212,932 (GRCm39)	Y1907C	probably damaging	Het
Loxhd1	T	C	18: 77,518,882 (GRCm39)	V1896A	possibly damaging	Het
Lrfn4	C	A	19: 4,663,679 (GRCm39)	R285L	probably damaging	Het
Ltb4r2	T	A	14: 56,000,338 (GRCm39)	S320T	probably damaging	Het
Mmd	G	T	11: 90,148,378 (GRCm39)	R20L	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nbas	T	C	12: 13,608,661 (GRCm39)	S2146P	probably benign	Het
Nop14	A	G	5: 34,809,135 (GRCm39)	F319L	probably damaging	Het
Numa1	C	A	7: 101,648,630 (GRCm39)	T787K	probably benign	Het
Or10q12	T	G	19: 13,745,709 (GRCm39)	M1R	probably null	Het
Or2t46	A	C	11: 58,471,999 (GRCm39)	T110P	probably damaging	Het
Or6c208	T	G	10: 129,223,726 (GRCm39)	C75G	possibly damaging	Het
Patj	T	C	4: 98,435,224 (GRCm39)	V2A	probably benign	Het
Pisd	T	C	5: 32,898,032 (GRCm39)	H52R	probably benign	Het
Plekhg6	A	T	6: 125,340,631 (GRCm39)	D576E	probably benign	Het
Plekhn1	T	A	4: 156,310,110 (GRCm39)	H68L	probably benign	Het
Ppp1r37	T	A	7: 19,295,778 (GRCm39)	I60F	probably damaging	Het
Ppp2r1b	C	T	9: 50,789,476 (GRCm39)	T513M	possibly damaging	Het
Pramel32	A	T	4: 88,548,279 (GRCm39)	I42N	probably damaging	Het
Rhobtb2	C	A	14: 70,034,386 (GRCm39)	A280S	probably damaging	Het
Rnf40	A	G	7: 127,189,047 (GRCm39)	D140G	probably benign	Het
Rxfp1	A	G	3: 79,555,397 (GRCm39)	L653P	probably damaging	Het
Satb1	A	T	17: 52,074,995 (GRCm39)	D500E	probably benign	Het
Smarcad1	C	A	6: 65,073,033 (GRCm39)	S604R	possibly damaging	Het
St7	A	G	6: 17,934,216 (GRCm39)	T533A	probably damaging	Het
Sv2c	T	A	13: 96,122,451 (GRCm39)	T442S	probably benign	Het
Tbx2	A	G	11: 85,731,622 (GRCm39)	T640A	probably benign	Het
Tenm4	T	A	7: 96,542,221 (GRCm39)	N1948K	probably damaging	Het
Tll1	T	C	8: 64,551,268 (GRCm39)		probably null	Het
Tmem135	A	T	7: 88,805,718 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,518,136 (GRCm39)	L582Q	probably null	Het
Unc13c	T	A	9: 73,641,799 (GRCm39)	K1231N	probably damaging	Het
Vmn2r101	T	A	17: 19,832,192 (GRCm39)	Y729*	probably null	Het
Zcchc2	A	G	1: 105,928,742 (GRCm39)	T334A	possibly damaging	Het
Zfp655	T	C	5: 145,173,917 (GRCm39)	L136P	probably damaging	Het
Zfp729a	A	T	13: 67,768,437 (GRCm39)	C597*	probably null	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
R3978:Slc15a1	UTSW	14	121,727,239 (GRCm39)	missense	probably benign	0.00
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
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'- GACTTTTCTCATACCGAAGCCC -3'
(R):5'- GTCTTTGCAGGGAAGCCAAG -3'

Sequencing Primer
(F):5'- CATTAGCTCAGGACCTAGCCGTC -3'
(R):5'- GCCAAGGGGATGTGAGGTG -3'

Posted On

2019-10-24