Mutagenetix > Incidental Mutation

Incidental Mutation 'R8376:Slc15a1'

646704

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

067744-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8376 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121459621-121505252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121480703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 255 (Y255H)

Ref Sequence

ENSEMBL: ENSMUSP00000085728 (fasta)

Gene Model

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

AlphaFold

Q9JIP7

Predicted Effect

probably benign
Transcript: ENSMUST00000088386
AA Change: Y255H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085728
Gene: ENSMUSG00000025557
AA Change: Y255H

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: 99.4%
20x: 97.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	A	17: 33,067,064 (GRCm38)	A255S	probably benign	Het
Adam32	A	C	8: 24,919,920 (GRCm38)	I173S	possibly damaging	Het
Ahctf1	T	C	1: 179,782,955 (GRCm38)	D599G	probably damaging	Het
Alkal2	G	T	12: 30,884,851 (GRCm38)	G23V	probably damaging	Het
Ankrd40	G	T	11: 94,334,836 (GRCm38)	G231V	probably damaging	Het
Apba2	T	A	7: 64,695,593 (GRCm38)	V177D	probably benign	Het
Atp12a	G	T	14: 56,374,626 (GRCm38)		probably null	Het
Birc6	C	T	17: 74,589,640 (GRCm38)	T1027M	probably benign	Het
Bmpr2	G	A	1: 59,867,356 (GRCm38)	R536H	probably damaging	Het
Brms1l	C	A	12: 55,841,629 (GRCm38)	N67K	probably benign	Het
Cachd1	G	A	4: 100,974,876 (GRCm38)	R745H	probably damaging	Het
Cacnb4	G	A	2: 52,464,653 (GRCm38)	Q238*	probably null	Het
Cdc42	G	A	4: 137,328,894 (GRCm38)	T102I	probably benign	Het
Cfhr1	A	C	1: 139,547,811 (GRCm38)	C307W	unknown	Het
Ddb1	G	A	19: 10,619,305 (GRCm38)	V463M	probably damaging	Het
Dhx30	G	A	9: 110,088,639 (GRCm38)	R365C	probably benign	Het
Dnah1	A	G	14: 31,301,346 (GRCm38)	F1005L	probably damaging	Het
Elp4	A	G	2: 105,842,308 (GRCm38)	V144A	probably benign	Het
Enpp2	T	A	15: 54,910,095 (GRCm38)	N77Y	probably damaging	Het
Fsip1	C	T	2: 118,233,038 (GRCm38)	V317I	possibly damaging	Het
Gc	G	A	5: 89,438,259 (GRCm38)	Q341*	probably null	Het
Gpt2	A	T	8: 85,493,065 (GRCm38)	I47F	probably benign	Het
Ino80	A	T	2: 119,442,487 (GRCm38)	S503T	probably benign	Het
Kcnn4	C	A	7: 24,377,626 (GRCm38)	T200K	possibly damaging	Het
Krtap4-7	A	G	11: 99,643,927 (GRCm38)	S37P	unknown	Het
Lrrc4b	T	C	7: 44,462,594 (GRCm38)	V630A	probably benign	Het
Man2a2	C	T	7: 80,360,923 (GRCm38)	W773*	probably null	Het
Mgrn1	T	A	16: 4,915,766 (GRCm38)	L192Q	probably damaging	Het
Mtx1	A	G	3: 89,214,171 (GRCm38)	V52A	probably benign	Het
Myc	A	T	15: 61,987,546 (GRCm38)	N24Y	possibly damaging	Het
Nbea	G	A	3: 55,643,655 (GRCm38)	S2696L	possibly damaging	Het
Nox4	A	G	7: 87,374,384 (GRCm38)	N493D	probably damaging	Het
Olfr692	C	A	7: 105,368,640 (GRCm38)	P105T	probably benign	Het
Osbpl10	G	A	9: 115,223,593 (GRCm38)	G403D	probably damaging	Het
Pdcd6ip	A	T	9: 113,689,616 (GRCm38)	L192Q	probably damaging	Het
Pde3a	A	G	6: 141,481,221 (GRCm38)	I703V	possibly damaging	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 109,623,788 (GRCm38)		probably benign	Het
Plcb3	A	G	19: 6,966,703 (GRCm38)	S36P	probably damaging	Het
Plk5	T	C	10: 80,360,345 (GRCm38)	F279L	probably damaging	Het
Prl7a1	T	G	13: 27,637,655 (GRCm38)	E99D	probably benign	Het
Rnf4	C	T	5: 34,351,357 (GRCm38)	R188W	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGAGGCGGCGG	7: 97,579,917 (GRCm38)		probably benign	Het
Scel	A	G	14: 103,572,015 (GRCm38)	S264G	probably benign	Het
Sdk1	A	G	5: 142,158,621 (GRCm38)	Q1712R	possibly damaging	Het
Syne1	C	T	10: 5,043,615 (GRCm38)	G525D	probably benign	Het
Taldo1	T	C	7: 141,401,875 (GRCm38)	V214A	probably damaging	Het
Tbc1d12	A	G	19: 38,901,409 (GRCm38)	T428A	probably damaging	Het
Tlr6	T	C	5: 64,955,112 (GRCm38)	K151E	probably benign	Het
Ubr2	T	A	17: 46,942,795 (GRCm38)	D1468V	probably benign	Het
Ubtf	A	C	11: 102,308,911 (GRCm38)	Y463D	probably damaging	Het
Uroc1	A	T	6: 90,337,715 (GRCm38)	M106L	probably damaging	Het
Vmn1r55	T	A	7: 5,146,870 (GRCm38)	I185L	probably benign	Het
Vmn2r93	T	A	17: 18,304,968 (GRCm38)	V296D	probably damaging	Het
Zfp65	A	C	13: 67,708,918 (GRCm38)	Y81D	probably damaging	Het
Zw10	A	T	9: 49,077,483 (GRCm38)	Y683F	possibly damaging	Het

Other mutations in Slc15a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01337:Slc15a1	APN	14	121,460,679 (GRCm38)	missense	possibly damaging	0.95
IGL01534:Slc15a1	APN	14	121,464,952 (GRCm38)	missense	possibly damaging	0.95
IGL01783:Slc15a1	APN	14	121,471,276 (GRCm38)	critical splice donor site	probably null
IGL01799:Slc15a1	APN	14	121,480,729 (GRCm38)	missense	possibly damaging	0.76
IGL02064:Slc15a1	APN	14	121,462,474 (GRCm38)	missense	probably benign	0.20
IGL02064:Slc15a1	APN	14	121,462,499 (GRCm38)	missense	possibly damaging	0.66
IGL02115:Slc15a1	APN	14	121,480,661 (GRCm38)	missense	possibly damaging	0.61
IGL02514:Slc15a1	APN	14	121,487,040 (GRCm38)	missense	probably damaging	1.00
IGL03056:Slc15a1	APN	14	121,491,283 (GRCm38)	missense	possibly damaging	0.82
IGL03297:Slc15a1	APN	14	121,486,684 (GRCm38)	missense	probably damaging	1.00
R1484:Slc15a1	UTSW	14	121,491,239 (GRCm38)	nonsense	probably null
R1532:Slc15a1	UTSW	14	121,475,984 (GRCm38)	missense	possibly damaging	0.79
R1655:Slc15a1	UTSW	14	121,465,899 (GRCm38)	missense	probably benign	0.34
R2013:Slc15a1	UTSW	14	121,475,987 (GRCm38)	missense	possibly damaging	0.88
R2270:Slc15a1	UTSW	14	121,479,994 (GRCm38)	missense	probably damaging	0.99
R2878:Slc15a1	UTSW	14	121,465,933 (GRCm38)	missense	probably benign	0.00
R2986:Slc15a1	UTSW	14	121,489,809 (GRCm38)	missense	probably benign	0.02
R3862:Slc15a1	UTSW	14	121,484,857 (GRCm38)	missense	probably benign	0.06
R3863:Slc15a1	UTSW	14	121,484,857 (GRCm38)	missense	probably benign	0.06
R3978:Slc15a1	UTSW	14	121,489,827 (GRCm38)	missense	probably benign	0.00
R4184:Slc15a1	UTSW	14	121,466,162 (GRCm38)	missense	probably benign	0.00
R4573:Slc15a1	UTSW	14	121,487,029 (GRCm38)	missense	probably damaging	0.99
R4604:Slc15a1	UTSW	14	121,489,907 (GRCm38)	missense	probably damaging	1.00
R4649:Slc15a1	UTSW	14	121,478,092 (GRCm38)	missense	probably damaging	1.00
R5838:Slc15a1	UTSW	14	121,484,871 (GRCm38)	missense	probably damaging	1.00
R6221:Slc15a1	UTSW	14	121,464,904 (GRCm38)	missense	probably null	1.00
R6891:Slc15a1	UTSW	14	121,476,030 (GRCm38)	missense	probably benign	0.00
R7626:Slc15a1	UTSW	14	121,475,965 (GRCm38)	missense	probably benign	0.13
R7836:Slc15a1	UTSW	14	121,480,733 (GRCm38)	nonsense	probably null
R8284:Slc15a1	UTSW	14	121,489,863 (GRCm38)	missense	probably benign	0.01
R8408:Slc15a1	UTSW	14	121,478,116 (GRCm38)	missense	possibly damaging	0.91
R8774:Slc15a1	UTSW	14	121,487,011 (GRCm38)	missense	probably damaging	1.00
R8774-TAIL:Slc15a1	UTSW	14	121,487,011 (GRCm38)	missense	probably damaging	1.00
R8933:Slc15a1	UTSW	14	121,486,679 (GRCm38)	missense	probably benign	0.00
R9157:Slc15a1	UTSW	14	121,464,977 (GRCm38)	missense	probably benign	0.08
Z1088:Slc15a1	UTSW	14	121,491,044 (GRCm38)	missense	probably damaging	1.00
Z1088:Slc15a1	UTSW	14	121,480,054 (GRCm38)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GTGTTCTCCAGTCCACACAC -3'
(R):5'- CAGACTGGAGGGTAAACTGCTG -3'

Sequencing Primer
(F):5'- GTCCACACACTATTAGCATTGGGAG -3'
(R):5'- ACTGCTGGGAAGGAGACTCC -3'

Posted On

2020-09-02