Incidental Mutation 'R0619:Slc15a2'
ID |
58559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc15a2
|
Ensembl Gene |
ENSMUSG00000022899 |
Gene Name |
solute carrier family 15 (H+/peptide transporter), member 2 |
Synonyms |
Pept2, 8430408C16Rik |
MMRRC Submission |
038808-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R0619 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36579669 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 328
(N328I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023616]
[ENSMUST00000165380]
[ENSMUST00000165531]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023616
AA Change: N359I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023616 Gene: ENSMUSG00000022899 AA Change: N359I
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 |
noncoding transcript
Transcript: ENSMUST00000100308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163471
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164770
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165380
|
SMART Domains |
Protein: ENSMUSP00000131395 Gene: ENSMUSG00000022899
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165531
AA Change: N328I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132663 Gene: ENSMUSG00000022899 AA Change: N328I
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 |
noncoding transcript
Transcript: ENSMUST00000167941
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167909
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172382
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad2 |
G |
A |
8: 120,339,739 (GRCm39) |
D74N |
probably benign |
Het |
Adgre4 |
T |
A |
17: 56,127,679 (GRCm39) |
V573D |
possibly damaging |
Het |
Ak7 |
A |
G |
12: 105,699,770 (GRCm39) |
K230E |
probably damaging |
Het |
Amdhd2 |
T |
C |
17: 24,375,562 (GRCm39) |
D375G |
possibly damaging |
Het |
Anpep |
T |
C |
7: 79,490,757 (GRCm39) |
E253G |
probably benign |
Het |
Bbs7 |
A |
G |
3: 36,661,725 (GRCm39) |
L158S |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,174,366 (GRCm39) |
T2057A |
probably benign |
Het |
C2 |
G |
T |
17: 35,091,479 (GRCm39) |
H61Q |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,328,282 (GRCm39) |
K661E |
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,269,556 (GRCm39) |
V655I |
probably damaging |
Het |
Cep78 |
T |
C |
19: 15,956,226 (GRCm39) |
T238A |
probably damaging |
Het |
Ces2a |
T |
A |
8: 105,462,742 (GRCm39) |
N110K |
probably benign |
Het |
Crat |
T |
C |
2: 30,299,996 (GRCm39) |
D128G |
probably benign |
Het |
Dclre1a |
A |
T |
19: 56,533,841 (GRCm39) |
M233K |
probably benign |
Het |
Dsg4 |
T |
C |
18: 20,594,416 (GRCm39) |
V515A |
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,534,784 (GRCm39) |
|
probably null |
Het |
Fryl |
T |
C |
5: 73,226,074 (GRCm39) |
D1863G |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,774,484 (GRCm39) |
L57Q |
probably damaging |
Het |
Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
Iqsec1 |
T |
C |
6: 90,647,388 (GRCm39) |
|
probably null |
Het |
Kcnn3 |
A |
C |
3: 89,559,337 (GRCm39) |
T536P |
probably damaging |
Het |
Kctd3 |
T |
C |
1: 188,710,840 (GRCm39) |
D441G |
probably damaging |
Het |
Kifc3 |
G |
A |
8: 95,829,293 (GRCm39) |
T528M |
probably benign |
Het |
Kmt2c |
G |
A |
5: 25,503,914 (GRCm39) |
T3798I |
probably benign |
Het |
Map1a |
T |
A |
2: 121,135,736 (GRCm39) |
M1946K |
probably damaging |
Het |
Mfhas1 |
T |
A |
8: 36,057,829 (GRCm39) |
V768E |
probably benign |
Het |
Mroh8 |
C |
A |
2: 157,107,001 (GRCm39) |
V223F |
possibly damaging |
Het |
Mss51 |
A |
T |
14: 20,537,641 (GRCm39) |
V30E |
probably benign |
Het |
Mtmr10 |
G |
A |
7: 63,970,961 (GRCm39) |
R392H |
probably benign |
Het |
Mup3 |
T |
C |
4: 62,004,198 (GRCm39) |
N105S |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,453,642 (GRCm39) |
M22T |
probably benign |
Het |
Or1o2 |
T |
A |
17: 37,543,046 (GRCm39) |
I72F |
possibly damaging |
Het |
Or2aj5 |
T |
A |
16: 19,425,022 (GRCm39) |
Y132F |
probably damaging |
Het |
Or5m9 |
T |
A |
2: 85,877,655 (GRCm39) |
Y276* |
probably null |
Het |
Os9 |
A |
G |
10: 126,956,860 (GRCm39) |
I43T |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,347,234 (GRCm39) |
L200P |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,548,198 (GRCm39) |
V100M |
possibly damaging |
Het |
Rnf6 |
G |
A |
5: 146,147,531 (GRCm39) |
R496C |
possibly damaging |
Het |
Rsad1 |
C |
T |
11: 94,433,465 (GRCm39) |
R407Q |
probably damaging |
Het |
Rspo3 |
T |
C |
10: 29,380,633 (GRCm39) |
D127G |
probably damaging |
Het |
Sbf2 |
T |
A |
7: 109,909,469 (GRCm39) |
T1760S |
possibly damaging |
Het |
Sh2d3c |
T |
A |
2: 32,643,037 (GRCm39) |
V588E |
probably damaging |
Het |
Siglech |
A |
T |
7: 55,418,910 (GRCm39) |
T238S |
probably benign |
Het |
Slc16a11 |
G |
T |
11: 70,105,858 (GRCm39) |
G94C |
probably damaging |
Het |
Stub1 |
T |
C |
17: 26,050,296 (GRCm39) |
|
probably null |
Het |
Tacc2 |
T |
A |
7: 130,318,483 (GRCm39) |
V40D |
probably damaging |
Het |
Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
Trappc14 |
A |
G |
5: 138,262,088 (GRCm39) |
|
probably benign |
Het |
Tsen54 |
A |
G |
11: 115,705,890 (GRCm39) |
E69G |
probably damaging |
Het |
Tsks |
A |
G |
7: 44,600,258 (GRCm39) |
E150G |
probably damaging |
Het |
Ubap2l |
A |
C |
3: 89,924,527 (GRCm39) |
V680G |
probably benign |
Het |
Usp16 |
A |
T |
16: 87,269,052 (GRCm39) |
H315L |
probably benign |
Het |
Vav2 |
A |
G |
2: 27,186,133 (GRCm39) |
|
probably null |
Het |
Zfc3h1 |
T |
C |
10: 115,256,715 (GRCm39) |
F1562L |
possibly damaging |
Het |
Zfp764 |
C |
A |
7: 127,005,713 (GRCm39) |
V22L |
probably benign |
Het |
|
Other mutations in Slc15a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00505:Slc15a2
|
APN |
16 |
36,574,137 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00703:Slc15a2
|
APN |
16 |
36,578,153 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00937:Slc15a2
|
APN |
16 |
36,572,242 (GRCm39) |
nonsense |
probably null |
|
IGL01511:Slc15a2
|
APN |
16 |
36,605,088 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01739:Slc15a2
|
APN |
16 |
36,576,592 (GRCm39) |
missense |
probably benign |
|
IGL02069:Slc15a2
|
APN |
16 |
36,579,613 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02076:Slc15a2
|
APN |
16 |
36,582,743 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02254:Slc15a2
|
APN |
16 |
36,580,449 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02387:Slc15a2
|
APN |
16 |
36,572,137 (GRCm39) |
splice site |
probably null |
|
IGL02507:Slc15a2
|
APN |
16 |
36,602,021 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02829:Slc15a2
|
APN |
16 |
36,577,555 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03114:Slc15a2
|
APN |
16 |
36,572,267 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03227:Slc15a2
|
APN |
16 |
36,576,410 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4581001:Slc15a2
|
UTSW |
16 |
36,592,405 (GRCm39) |
missense |
probably benign |
|
R0058:Slc15a2
|
UTSW |
16 |
36,574,909 (GRCm39) |
missense |
probably benign |
0.08 |
R0058:Slc15a2
|
UTSW |
16 |
36,574,909 (GRCm39) |
missense |
probably benign |
0.08 |
R0083:Slc15a2
|
UTSW |
16 |
36,602,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R0099:Slc15a2
|
UTSW |
16 |
36,573,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0104:Slc15a2
|
UTSW |
16 |
36,594,997 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0402:Slc15a2
|
UTSW |
16 |
36,595,960 (GRCm39) |
missense |
probably benign |
0.00 |
R0963:Slc15a2
|
UTSW |
16 |
36,594,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R0972:Slc15a2
|
UTSW |
16 |
36,577,501 (GRCm39) |
missense |
probably benign |
0.00 |
R1440:Slc15a2
|
UTSW |
16 |
36,605,005 (GRCm39) |
splice site |
probably benign |
|
R1471:Slc15a2
|
UTSW |
16 |
36,574,153 (GRCm39) |
missense |
probably damaging |
0.99 |
R1569:Slc15a2
|
UTSW |
16 |
36,576,745 (GRCm39) |
missense |
probably benign |
0.00 |
R1616:Slc15a2
|
UTSW |
16 |
36,574,843 (GRCm39) |
missense |
probably benign |
|
R2246:Slc15a2
|
UTSW |
16 |
36,582,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R2405:Slc15a2
|
UTSW |
16 |
36,572,199 (GRCm39) |
nonsense |
probably null |
|
R3834:Slc15a2
|
UTSW |
16 |
36,592,490 (GRCm39) |
nonsense |
probably null |
|
R3835:Slc15a2
|
UTSW |
16 |
36,592,490 (GRCm39) |
nonsense |
probably null |
|
R3885:Slc15a2
|
UTSW |
16 |
36,602,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R3887:Slc15a2
|
UTSW |
16 |
36,602,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R3888:Slc15a2
|
UTSW |
16 |
36,602,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R3889:Slc15a2
|
UTSW |
16 |
36,602,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R4105:Slc15a2
|
UTSW |
16 |
36,602,755 (GRCm39) |
intron |
probably benign |
|
R4108:Slc15a2
|
UTSW |
16 |
36,602,755 (GRCm39) |
intron |
probably benign |
|
R4254:Slc15a2
|
UTSW |
16 |
36,574,852 (GRCm39) |
missense |
probably benign |
0.04 |
R4352:Slc15a2
|
UTSW |
16 |
36,592,390 (GRCm39) |
missense |
probably benign |
0.08 |
R4684:Slc15a2
|
UTSW |
16 |
36,578,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R4747:Slc15a2
|
UTSW |
16 |
36,592,498 (GRCm39) |
missense |
probably damaging |
0.98 |
R4774:Slc15a2
|
UTSW |
16 |
36,602,057 (GRCm39) |
nonsense |
probably null |
|
R5151:Slc15a2
|
UTSW |
16 |
36,572,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R5503:Slc15a2
|
UTSW |
16 |
36,582,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R5649:Slc15a2
|
UTSW |
16 |
36,592,472 (GRCm39) |
nonsense |
probably null |
|
R6003:Slc15a2
|
UTSW |
16 |
36,574,910 (GRCm39) |
missense |
probably benign |
0.00 |
R6261:Slc15a2
|
UTSW |
16 |
36,581,973 (GRCm39) |
missense |
probably benign |
0.25 |
R6329:Slc15a2
|
UTSW |
16 |
36,572,144 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6409:Slc15a2
|
UTSW |
16 |
36,582,232 (GRCm39) |
missense |
probably benign |
0.00 |
R6523:Slc15a2
|
UTSW |
16 |
36,572,683 (GRCm39) |
missense |
probably benign |
0.17 |
R7125:Slc15a2
|
UTSW |
16 |
36,602,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R7208:Slc15a2
|
UTSW |
16 |
36,576,643 (GRCm39) |
missense |
probably benign |
0.02 |
R7234:Slc15a2
|
UTSW |
16 |
36,578,173 (GRCm39) |
missense |
probably benign |
0.05 |
R7374:Slc15a2
|
UTSW |
16 |
36,572,207 (GRCm39) |
missense |
probably benign |
0.01 |
R7545:Slc15a2
|
UTSW |
16 |
36,595,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R7559:Slc15a2
|
UTSW |
16 |
36,572,259 (GRCm39) |
missense |
probably benign |
|
R7611:Slc15a2
|
UTSW |
16 |
36,576,673 (GRCm39) |
missense |
probably benign |
0.18 |
R7787:Slc15a2
|
UTSW |
16 |
36,572,228 (GRCm39) |
missense |
probably benign |
0.02 |
R7825:Slc15a2
|
UTSW |
16 |
36,573,396 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8324:Slc15a2
|
UTSW |
16 |
36,579,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R9035:Slc15a2
|
UTSW |
16 |
36,602,719 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9037:Slc15a2
|
UTSW |
16 |
36,582,725 (GRCm39) |
missense |
probably benign |
0.11 |
R9212:Slc15a2
|
UTSW |
16 |
36,602,053 (GRCm39) |
nonsense |
probably null |
|
R9273:Slc15a2
|
UTSW |
16 |
36,574,090 (GRCm39) |
missense |
probably benign |
0.01 |
R9363:Slc15a2
|
UTSW |
16 |
36,572,672 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9368:Slc15a2
|
UTSW |
16 |
36,574,080 (GRCm39) |
missense |
probably benign |
0.00 |
R9488:Slc15a2
|
UTSW |
16 |
36,579,651 (GRCm39) |
missense |
probably benign |
0.02 |
T0722:Slc15a2
|
UTSW |
16 |
36,772,445 (GRCm38) |
missense |
probably benign |
|
V8831:Slc15a2
|
UTSW |
16 |
36,772,445 (GRCm38) |
missense |
probably benign |
|
X0066:Slc15a2
|
UTSW |
16 |
36,574,151 (GRCm39) |
nonsense |
probably null |
|
Z1088:Slc15a2
|
UTSW |
16 |
36,772,445 (GRCm38) |
missense |
probably benign |
|
Z1176:Slc15a2
|
UTSW |
16 |
36,772,445 (GRCm38) |
missense |
probably benign |
|
Z1176:Slc15a2
|
UTSW |
16 |
36,579,678 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Slc15a2
|
UTSW |
16 |
36,605,049 (GRCm39) |
frame shift |
probably null |
|
Z1177:Slc15a2
|
UTSW |
16 |
36,772,445 (GRCm38) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCAAGCTGGGCAAACTGAGTATG -3'
(R):5'- CAGCTAGGCACTTGTCTGACACAC -3'
Sequencing Primer
(F):5'- CTGGGCAAACTGAGTATGTAAAC -3'
(R):5'- AGAGCATGAGCTCATTCAGG -3'
|
Posted On |
2013-07-11 |