Mutagenetix > Incidental Mutation

Incidental Mutation 'R9035:Slc15a2'

687338

Institutional Source

Beutler Lab

Gene Symbol

Slc15a2

Ensembl Gene

ENSMUSG00000022899

Gene Name

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

Synonyms

8430408C16Rik, Pept2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R9035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36750177-36784962 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36782357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 47 (K47N)

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: K47N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
AA Change: K47N

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

possibly damaging
Transcript: ENSMUST00000164579
AA Change: K47N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132029
Gene: ENSMUSG00000022899
AA Change: K47N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165380
AA Change: K47N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131395
Gene: ENSMUSG00000022899
AA Change: K47N

Domain	Start	End	E-Value	Type
low complexity region	35	47	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165531
AA Change: K47N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
AA Change: K47N

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

probably damaging
Transcript: ENSMUST00000168279
AA Change: K47N

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132885
Gene: ENSMUSG00000022899
AA Change: K47N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (90/91)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	C	T	8: 36,511,800	R186*	probably null	Het
Abca9	A	G	11: 110,130,635	L1083P	probably damaging	Het
Anxa7	G	T	14: 20,460,392	T356K	probably damaging	Het
Atg16l1	T	C	1: 87,765,445		probably null	Het
Bptf	A	G	11: 107,073,016	V1784A	probably damaging	Het
Cabs1	T	C	5: 87,980,450	V320A	probably damaging	Het
Camta1	A	C	4: 151,144,702	S558A	probably benign	Het
Ccdc180	A	T	4: 45,906,922	K466*	probably null	Het
Cdhr1	G	A	14: 37,088,967	P279L	possibly damaging	Het
Cenpe	A	G	3: 135,270,811	N2393S	probably benign	Het
Cep104	T	C	4: 153,979,005	V8A	probably benign	Het
Chaf1a	T	A	17: 56,064,110	V665E	probably damaging	Het
Clasp1	T	A	1: 118,503,853	D404E	probably damaging	Het
Clnk	G	A	5: 38,750,408	T169I	possibly damaging	Het
Cnst	G	A	1: 179,610,022	A384T	possibly damaging	Het
Ctnnd2	T	A	15: 30,332,016	M15K	possibly damaging	Het
Dlgap1	T	A	17: 70,516,860	L280Q	possibly damaging	Het
Dll1	T	C	17: 15,368,697	K572R	probably benign	Het
Dolk	C	A	2: 30,284,530	W501L	probably damaging	Het
Ednrb	G	A	14: 103,843,229	P83L	probably benign	Het
Edrf1	T	C	7: 133,643,702	W190R	probably damaging	Het
Epha5	T	A	5: 84,108,027	D468V	probably damaging	Het
Fat2	G	T	11: 55,303,721	P1164Q	probably damaging	Het
Fbln5	A	T	12: 101,750,782	V436E	probably damaging	Het
Fbxw10	G	T	11: 62,867,623	R558L	possibly damaging	Het
Fhod3	C	A	18: 25,028,083	S557R	probably benign	Het
Gm340	A	T	19: 41,584,960	H718L	probably benign	Het
Gmip	A	T	8: 69,820,648	H863L	probably damaging	Het
Grm3	A	T	5: 9,570,464	I260N	probably damaging	Het
Gtpbp8	G	A	16: 44,746,148	P64S	probably benign	Het
Hand1	A	C	11: 57,831,722	M22R	probably benign	Het
Igsf21	A	G	4: 140,157,471	V58A	probably damaging	Het
Ikzf2	G	A	1: 69,539,478	R291*	probably null	Het
Itih4	C	G	14: 30,896,693	P687R	probably benign	Het
Kifc3	C	T	8: 95,126,567	D54N	possibly damaging	Het
Kmt2c	G	T	5: 25,319,012	Q1739K	probably damaging	Het
Krtap4-1	G	T	11: 99,627,882	R101S	unknown	Het
L3mbtl2	T	A	15: 81,676,543		probably benign	Het
Lrrc73	T	C	17: 46,254,367	I8T	probably damaging	Het
Med19	C	A	2: 84,686,188		probably benign	Het
Mgarp	C	T	3: 51,388,843	S246N	unknown	Het
Mkrn2	T	C	6: 115,617,720	S414P	possibly damaging	Het
Mucl2	C	T	15: 103,896,013	R137H	unknown	Het
Myo1g	A	G	11: 6,514,916	Y453H	probably damaging	Het
Nacc2	C	A	2: 26,061,593	R410L	probably damaging	Het
Ndufs3	C	T	2: 90,894,873	R210H	probably damaging	Het
Nlgn1	G	T	3: 25,434,431	T580K	probably damaging	Het
Nobox	A	T	6: 43,307,588	D41E	probably damaging	Het
Nsd1	A	G	13: 55,245,854	R526G	possibly damaging	Het
Nt5e	A	G	9: 88,364,820	M370V	probably benign	Het
Olfm5	T	A	7: 104,153,892	N455Y	probably damaging	Het
Olfr1080	T	A	2: 86,553,677	Y149F	probably damaging	Het
Olfr1188	T	A	2: 88,559,519	F6I	probably damaging	Het
Olfr130	T	C	17: 38,067,288	V39A	probably benign	Het
Olfr150	G	A	9: 39,737,590	M258I	probably benign	Het
Olfr596	T	C	7: 103,309,979	I86T	probably damaging	Het
Pcdhac2	T	C	18: 37,144,705	V246A	probably damaging	Het
Pclo	A	T	5: 14,713,178	Q603H		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkhd1	T	A	1: 20,502,952	Q1910L	probably damaging	Het
Plg	C	A	17: 12,390,220	Y137*	probably null	Het
Prkra	T	C	2: 76,630,512	I281V	probably benign	Het
Prrc2c	A	C	1: 162,675,726	L2722R	possibly damaging	Het
Prss12	A	G	3: 123,485,500	T409A	probably damaging	Het
Rnaseh1	A	G	12: 28,658,291	Q256R	probably benign	Het
Rpp14	T	A	14: 8,083,772	Y17N	possibly damaging	Het
Ryr1	A	T	7: 29,090,997	H1468Q	probably damaging	Het
Scp2	C	T	4: 108,055,520	V463M	probably damaging	Het
Sf3b4	C	A	3: 96,173,065	H43Q	probably damaging	Het
Sgpp1	T	C	12: 75,735,464	S34G	probably benign	Het
Shisa9	T	A	16: 11,985,038	I153N	probably damaging	Het
Sin3b	C	A	8: 72,723,464	P3H	unknown	Het
Slc30a6	T	A	17: 74,419,591	F297L	probably benign	Het
Slc45a3	TGGGG	TGGGGG	1: 131,981,449		probably null	Het
Slfn4	A	T	11: 83,186,650	D88V	probably benign	Het
Tgs1	C	A	4: 3,593,491	Q460K	probably benign	Het
Tlr11	A	T	14: 50,360,977	D140V	probably benign	Het
Tmem215	T	A	4: 40,473,945	N7K	probably damaging	Het
Tmem245	T	C	4: 56,922,384		probably benign	Het
Tnfsf10	G	A	3: 27,335,230	D147N	probably benign	Het
Tpm1	A	G	9: 67,047,856	L57P	possibly damaging	Het
Trappc10	T	C	10: 78,207,889		probably benign	Het
Ttc30b	T	C	2: 75,937,252	T386A	probably benign	Het
Ttn	T	C	2: 76,762,717	T20730A	possibly damaging	Het
Uap1	A	T	1: 170,149,444	Y395*	probably null	Het
Usp2	A	T	9: 44,075,879	D158V	probably damaging	Het
Usp30	A	G	5: 114,105,816	M149V	probably benign	Het
Vmn2r2	T	C	3: 64,116,751	N803S	probably damaging	Het
Vmn2r85	A	G	10: 130,425,610	V286A	probably benign	Het
Wdr78	T	A	4: 103,048,302	K761*	probably null	Het
Xdh	T	C	17: 73,910,227	H682R	probably benign	Het
Zbed3	T	A	13: 95,336,491	L141Q	probably damaging	Het
Zfp623	T	C	15: 75,948,313	C373R	possibly damaging	Het

Other mutations in Slc15a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Slc15a2	APN	16	36753775	missense	probably benign	0.00
IGL00703:Slc15a2	APN	16	36757791	missense	probably benign	0.00
IGL00937:Slc15a2	APN	16	36751880	nonsense	probably null
IGL01511:Slc15a2	APN	16	36784726	missense	probably damaging	0.99
IGL01739:Slc15a2	APN	16	36756230	missense	probably benign
IGL02069:Slc15a2	APN	16	36759251	missense	probably benign	0.02
IGL02076:Slc15a2	APN	16	36762381	missense	probably damaging	1.00
IGL02254:Slc15a2	APN	16	36760087	missense	possibly damaging	0.93
IGL02387:Slc15a2	APN	16	36751775	splice site	probably null
IGL02507:Slc15a2	APN	16	36781659	missense	possibly damaging	0.87
IGL02829:Slc15a2	APN	16	36757193	missense	possibly damaging	0.92
IGL03114:Slc15a2	APN	16	36751905	missense	probably damaging	1.00
IGL03227:Slc15a2	APN	16	36756048	critical splice donor site	probably null
PIT4581001:Slc15a2	UTSW	16	36772043	missense	probably benign
R0058:Slc15a2	UTSW	16	36754547	missense	probably benign	0.08
R0058:Slc15a2	UTSW	16	36754547	missense	probably benign	0.08
R0083:Slc15a2	UTSW	16	36782283	missense	probably damaging	1.00
R0099:Slc15a2	UTSW	16	36753036	missense	probably damaging	1.00
R0104:Slc15a2	UTSW	16	36774635	missense	possibly damaging	0.79
R0402:Slc15a2	UTSW	16	36775598	missense	probably benign	0.00
R0619:Slc15a2	UTSW	16	36759307	missense	probably damaging	1.00
R0963:Slc15a2	UTSW	16	36774573	missense	probably damaging	1.00
R0972:Slc15a2	UTSW	16	36757139	missense	probably benign	0.00
R1440:Slc15a2	UTSW	16	36784643	splice site	probably benign
R1471:Slc15a2	UTSW	16	36753791	missense	probably damaging	0.99
R1569:Slc15a2	UTSW	16	36756383	missense	probably benign	0.00
R1616:Slc15a2	UTSW	16	36754481	missense	probably benign
R2246:Slc15a2	UTSW	16	36762361	missense	probably damaging	1.00
R2405:Slc15a2	UTSW	16	36751837	nonsense	probably null
R3834:Slc15a2	UTSW	16	36772128	nonsense	probably null
R3835:Slc15a2	UTSW	16	36772128	nonsense	probably null
R3885:Slc15a2	UTSW	16	36782304	missense	probably damaging	1.00
R3887:Slc15a2	UTSW	16	36782304	missense	probably damaging	1.00
R3888:Slc15a2	UTSW	16	36782304	missense	probably damaging	1.00
R3889:Slc15a2	UTSW	16	36782304	missense	probably damaging	1.00
R4105:Slc15a2	UTSW	16	36782393	intron	probably benign
R4108:Slc15a2	UTSW	16	36782393	intron	probably benign
R4254:Slc15a2	UTSW	16	36754490	missense	probably benign	0.04
R4352:Slc15a2	UTSW	16	36772028	missense	probably benign	0.08
R4684:Slc15a2	UTSW	16	36757849	missense	probably damaging	1.00
R4747:Slc15a2	UTSW	16	36772136	missense	probably damaging	0.98
R4774:Slc15a2	UTSW	16	36781695	nonsense	probably null
R5151:Slc15a2	UTSW	16	36752297	missense	probably damaging	1.00
R5503:Slc15a2	UTSW	16	36762385	missense	probably damaging	1.00
R5649:Slc15a2	UTSW	16	36772110	nonsense	probably null
R6003:Slc15a2	UTSW	16	36754548	missense	probably benign	0.00
R6261:Slc15a2	UTSW	16	36761611	missense	probably benign	0.25
R6329:Slc15a2	UTSW	16	36751782	missense	possibly damaging	0.94
R6409:Slc15a2	UTSW	16	36761870	missense	probably benign	0.00
R6523:Slc15a2	UTSW	16	36752321	missense	probably benign	0.17
R7125:Slc15a2	UTSW	16	36782298	missense	probably damaging	1.00
R7208:Slc15a2	UTSW	16	36756281	missense	probably benign	0.02
R7234:Slc15a2	UTSW	16	36757811	missense	probably benign	0.05
R7374:Slc15a2	UTSW	16	36751845	missense	probably benign	0.01
R7545:Slc15a2	UTSW	16	36775602	missense	probably damaging	1.00
R7559:Slc15a2	UTSW	16	36751897	missense	probably benign
R7611:Slc15a2	UTSW	16	36756311	missense	probably benign	0.18
R7787:Slc15a2	UTSW	16	36751866	missense	probably benign	0.02
R7825:Slc15a2	UTSW	16	36753034	missense	possibly damaging	0.94
R8324:Slc15a2	UTSW	16	36759307	missense	probably damaging	1.00
R9037:Slc15a2	UTSW	16	36762363	missense	probably benign	0.11
R9212:Slc15a2	UTSW	16	36781691	nonsense	probably null
R9273:Slc15a2	UTSW	16	36753728	missense	probably benign	0.01
R9363:Slc15a2	UTSW	16	36752310	missense	possibly damaging	0.91
R9368:Slc15a2	UTSW	16	36753718	missense	probably benign	0.00
R9488:Slc15a2	UTSW	16	36759289	missense	probably benign	0.02
T0722:Slc15a2	UTSW	16	36772445	missense	probably benign
V8831:Slc15a2	UTSW	16	36772445	missense	probably benign
X0066:Slc15a2	UTSW	16	36753789	nonsense	probably null
Z1088:Slc15a2	UTSW	16	36772445	missense	probably benign
Z1176:Slc15a2	UTSW	16	36759316	critical splice acceptor site	probably null
Z1176:Slc15a2	UTSW	16	36772445	missense	probably benign
Z1177:Slc15a2	UTSW	16	36772445	missense	probably benign
Z1177:Slc15a2	UTSW	16	36784687	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGATCAGTTTATACCGAGGCAG -3'
(R):5'- AGACCACTGCTTTGTGATAACTG -3'

Sequencing Primer
(F):5'- TCAGTTTATACCGAGGCAGAAATG -3'
(R):5'- AGCAACCTGAGCTCTTTGG -3'

Posted On

2021-11-19