Incidental Mutation 'R4254:Slc15a2'
ID |
321748 |
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 |
041067-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R4254 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36574852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 519
(V519E)
|
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 benign
Transcript: ENSMUST00000023616
AA Change: V550E
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000023616 Gene: ENSMUSG00000022899 AA Change: V550E
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: 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 benign
Transcript: ENSMUST00000165531
AA Change: V519E
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000132663 Gene: ENSMUSG00000022899 AA Change: V519E
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: ENSMUST00000172382
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (40/41) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
Adgrg2 |
T |
G |
X: 159,265,404 (GRCm39) |
S551R |
possibly damaging |
Het |
Anapc2 |
T |
C |
2: 25,163,357 (GRCm39) |
V198A |
probably benign |
Het |
Asxl3 |
T |
C |
18: 22,657,423 (GRCm39) |
I1811T |
possibly damaging |
Het |
Atp5mc3 |
A |
C |
2: 73,740,319 (GRCm39) |
|
probably benign |
Het |
Ccdc27 |
A |
C |
4: 154,123,976 (GRCm39) |
S186A |
unknown |
Het |
Ccdc28a |
A |
G |
10: 18,100,683 (GRCm39) |
L48P |
probably damaging |
Het |
Cdh19 |
C |
T |
1: 110,852,760 (GRCm39) |
A392T |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,942,517 (GRCm39) |
D1679G |
probably benign |
Het |
Copa |
C |
T |
1: 171,929,811 (GRCm39) |
R293C |
probably damaging |
Het |
Depdc1a |
A |
G |
3: 159,204,124 (GRCm39) |
R58G |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,604,595 (GRCm39) |
T1021S |
probably benign |
Het |
Hrh1 |
T |
A |
6: 114,456,962 (GRCm39) |
M81K |
probably damaging |
Het |
Ipo11 |
G |
A |
13: 107,029,017 (GRCm39) |
T312I |
probably benign |
Het |
Itgb2l |
T |
C |
16: 96,231,777 (GRCm39) |
N330D |
probably benign |
Het |
Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
Kcnb1 |
A |
G |
2: 166,947,651 (GRCm39) |
I399T |
probably damaging |
Het |
Muc13 |
G |
A |
16: 33,636,221 (GRCm39) |
M568I |
probably benign |
Het |
Nlrp1a |
A |
C |
11: 71,013,854 (GRCm39) |
Y465* |
probably null |
Het |
Nwd2 |
G |
A |
5: 63,963,889 (GRCm39) |
V1158I |
possibly damaging |
Het |
Or2h1b |
A |
G |
17: 37,462,530 (GRCm39) |
I111T |
possibly damaging |
Het |
Or5d14 |
C |
T |
2: 87,880,123 (GRCm39) |
V282I |
possibly damaging |
Het |
Or8b101 |
T |
A |
9: 38,020,546 (GRCm39) |
L183H |
probably damaging |
Het |
Ptprr |
T |
A |
10: 115,998,348 (GRCm39) |
|
probably null |
Het |
Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Serinc3 |
T |
A |
2: 163,478,888 (GRCm39) |
M80L |
probably benign |
Het |
Sf1 |
T |
C |
19: 6,421,677 (GRCm39) |
V140A |
probably damaging |
Het |
Slc16a10 |
A |
G |
10: 39,952,997 (GRCm39) |
Y166H |
probably damaging |
Het |
Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
Smim29 |
A |
T |
17: 27,784,696 (GRCm39) |
|
probably null |
Het |
Tmbim1 |
C |
A |
1: 74,333,090 (GRCm39) |
V92F |
probably damaging |
Het |
Vsig4 |
C |
A |
X: 95,334,107 (GRCm39) |
R134L |
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 |
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 |
|
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'- ACAGTCTCAGCTACCAGTGTAG -3'
(R):5'- TTGCCTGGCGATTTTACACAC -3'
Sequencing Primer
(F):5'- GTCTCAGCTACCAGTGTAGAAATCAG -3'
(R):5'- GGCGATTTTACACACTTGGAATATAG -3'
|
Posted On |
2015-06-20 |