Incidental Mutation 'R7234:Slc15a2'
ID |
562728 |
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 |
045304-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R7234 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 36578173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 403
(A403V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023616]
[ENSMUST00000165380]
[ENSMUST00000165531]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023616
AA Change: A403V
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000023616 Gene: ENSMUSG00000022899 AA Change: A403V
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 |
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 benign
Transcript: ENSMUST00000165531
AA Change: A372V
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000132663 Gene: ENSMUSG00000022899 AA Change: A372V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (66/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acy3 |
T |
A |
19: 4,037,758 (GRCm39) |
Y88* |
probably null |
Het |
AI606181 |
T |
A |
19: 41,582,076 (GRCm39) |
I82N |
unknown |
Het |
Akap1 |
T |
C |
11: 88,729,808 (GRCm39) |
Y638C |
probably damaging |
Het |
Angpt1 |
T |
C |
15: 42,323,121 (GRCm39) |
N383D |
probably benign |
Het |
Ank |
T |
C |
15: 27,571,742 (GRCm39) |
|
probably null |
Het |
Aoc1 |
C |
T |
6: 48,882,750 (GRCm39) |
Q209* |
probably null |
Het |
Apol7c |
A |
T |
15: 77,409,875 (GRCm39) |
L357* |
probably null |
Het |
Atxn2l |
A |
G |
7: 126,092,373 (GRCm39) |
L958P |
probably damaging |
Het |
Cab39l |
T |
A |
14: 59,734,395 (GRCm39) |
|
probably null |
Het |
Cdk5rap2 |
A |
G |
4: 70,295,024 (GRCm39) |
|
probably null |
Het |
Cdkn3 |
T |
C |
14: 47,008,918 (GRCm39) |
S204P |
unknown |
Het |
Cds2 |
T |
C |
2: 132,146,400 (GRCm39) |
|
probably null |
Het |
Cideb |
C |
T |
14: 55,992,017 (GRCm39) |
R179H |
probably benign |
Het |
Cped1 |
A |
G |
6: 22,254,625 (GRCm39) |
Q1006R |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,350,572 (GRCm39) |
Y1547C |
|
Het |
Dicer1 |
A |
G |
12: 104,675,108 (GRCm39) |
L718S |
probably damaging |
Het |
Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
Dyrk2 |
T |
C |
10: 118,696,136 (GRCm39) |
H374R |
possibly damaging |
Het |
Edem2 |
A |
T |
2: 155,552,886 (GRCm39) |
Y283N |
probably benign |
Het |
Ero1b |
A |
T |
13: 12,615,203 (GRCm39) |
S345C |
possibly damaging |
Het |
Fam83g |
T |
C |
11: 61,593,342 (GRCm39) |
V292A |
possibly damaging |
Het |
Farp2 |
A |
G |
1: 93,507,841 (GRCm39) |
D513G |
possibly damaging |
Het |
Fbxl5 |
A |
G |
5: 43,915,562 (GRCm39) |
W617R |
probably benign |
Het |
Fzd7 |
G |
A |
1: 59,522,443 (GRCm39) |
V109M |
probably damaging |
Het |
Gbp5 |
A |
T |
3: 142,226,898 (GRCm39) |
H583L |
probably benign |
Het |
Gm10306 |
T |
A |
4: 94,445,032 (GRCm39) |
L84M |
unknown |
Het |
Gsap |
A |
G |
5: 21,391,433 (GRCm39) |
T25A |
probably benign |
Het |
Hectd4 |
G |
T |
5: 121,467,136 (GRCm39) |
R2466L |
possibly damaging |
Het |
Ide |
C |
A |
19: 37,268,184 (GRCm39) |
C557F |
|
Het |
Ift70a2 |
A |
T |
2: 75,806,540 (GRCm39) |
Y657* |
probably null |
Het |
Igdcc4 |
T |
A |
9: 65,042,750 (GRCm39) |
C1234* |
probably null |
Het |
Ints4 |
A |
G |
7: 97,179,507 (GRCm39) |
I701V |
probably benign |
Het |
Kalrn |
T |
A |
16: 33,996,792 (GRCm39) |
I1467F |
possibly damaging |
Het |
Kcnip3 |
C |
A |
2: 127,363,256 (GRCm39) |
R2M |
unknown |
Het |
Kcnrg |
A |
T |
14: 61,845,531 (GRCm39) |
E190D |
unknown |
Het |
Klk13 |
T |
C |
7: 43,370,841 (GRCm39) |
L131P |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,099,359 (GRCm39) |
L14Q |
possibly damaging |
Het |
Mdm4 |
A |
T |
1: 132,938,853 (GRCm39) |
D80E |
probably damaging |
Het |
Mib2 |
G |
T |
4: 155,742,350 (GRCm39) |
Q311K |
probably damaging |
Het |
Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,452,773 (GRCm39) |
S1703T |
probably damaging |
Het |
Naip6 |
A |
T |
13: 100,452,011 (GRCm39) |
C200* |
probably null |
Het |
Ncapd3 |
T |
A |
9: 26,961,655 (GRCm39) |
I361N |
probably damaging |
Het |
Nom1 |
A |
G |
5: 29,640,451 (GRCm39) |
E259G |
probably benign |
Het |
Or10j5 |
T |
A |
1: 172,784,673 (GRCm39) |
F104I |
probably damaging |
Het |
Or51v14 |
A |
G |
7: 103,261,089 (GRCm39) |
L157P |
probably damaging |
Het |
Plxna2 |
A |
T |
1: 194,488,698 (GRCm39) |
H1658L |
probably damaging |
Het |
Ranbp6 |
T |
C |
19: 29,789,462 (GRCm39) |
T297A |
possibly damaging |
Het |
Rap1gap |
T |
A |
4: 137,455,851 (GRCm39) |
C722* |
probably null |
Het |
Ribc2 |
A |
G |
15: 85,019,733 (GRCm39) |
K172E |
probably benign |
Het |
Scamp5 |
C |
A |
9: 57,354,423 (GRCm39) |
W77L |
probably damaging |
Het |
Scin |
T |
A |
12: 40,130,957 (GRCm39) |
K319* |
probably null |
Het |
Sec16a |
G |
T |
2: 26,329,780 (GRCm39) |
T745K |
probably damaging |
Het |
Slco6c1 |
A |
G |
1: 97,053,466 (GRCm39) |
V145A |
probably benign |
Het |
Sncaip |
C |
T |
18: 53,048,416 (GRCm39) |
H951Y |
probably benign |
Het |
Spem1 |
A |
G |
11: 69,712,630 (GRCm39) |
|
probably null |
Het |
Spen |
C |
T |
4: 141,206,446 (GRCm39) |
R727Q |
unknown |
Het |
Thra |
T |
C |
11: 98,654,544 (GRCm39) |
S305P |
probably damaging |
Het |
Tlr1 |
A |
G |
5: 65,084,067 (GRCm39) |
V170A |
probably damaging |
Het |
Tmem260 |
T |
A |
14: 48,742,786 (GRCm39) |
C388* |
probably null |
Het |
Tmem60 |
T |
A |
5: 21,091,619 (GRCm39) |
V128D |
possibly damaging |
Het |
Tpo |
G |
A |
12: 30,142,685 (GRCm39) |
P680S |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,205,595 (GRCm39) |
E730G |
possibly damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,056,315 (GRCm39) |
T608A |
probably benign |
Het |
Xrra1 |
G |
A |
7: 99,563,456 (GRCm39) |
S481N |
possibly damaging |
Het |
Zc3h4 |
G |
A |
7: 16,162,961 (GRCm39) |
V446I |
unknown |
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 |
R0619:Slc15a2
|
UTSW |
16 |
36,579,669 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CATTCAGGTGGAAAGTGGACCTC -3'
(R):5'- TGACTTGAGCAAAAGGGTGTTTTAG -3'
Sequencing Primer
(F):5'- TGGAAAGTGGACCTCATTGCC -3'
(R):5'- CAAAAGGGTGTTTTAGGGAGAGTTC -3'
|
Posted On |
2019-06-26 |