Incidental Mutation 'R6003:Slc15a2'
ID |
478479 |
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 |
043252-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R6003 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36574910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 531
(I531V)
|
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: I531V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000023616 Gene: ENSMUSG00000022899 AA Change: I531V
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: I500V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132663 Gene: ENSMUSG00000022899 AA Change: I500V
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,312 (GRCm39) |
E157G |
probably benign |
Het |
Abcb11 |
T |
C |
2: 69,073,811 (GRCm39) |
K1238R |
probably benign |
Het |
Ankar |
T |
A |
1: 72,738,046 (GRCm39) |
E45D |
probably damaging |
Het |
Antxrl |
G |
T |
14: 33,797,592 (GRCm39) |
K522N |
possibly damaging |
Het |
Ap1m1 |
A |
G |
8: 73,003,011 (GRCm39) |
Y93C |
probably damaging |
Het |
As3mt |
C |
T |
19: 46,696,567 (GRCm39) |
T35M |
possibly damaging |
Het |
Aspg |
T |
C |
12: 112,079,476 (GRCm39) |
S85P |
probably damaging |
Het |
Cachd1 |
T |
C |
4: 100,809,216 (GRCm39) |
S234P |
possibly damaging |
Het |
Ccdc3 |
T |
C |
2: 5,146,218 (GRCm39) |
|
probably null |
Het |
Cnpy1 |
T |
C |
5: 28,450,759 (GRCm39) |
T16A |
probably benign |
Het |
Cope |
T |
C |
8: 70,757,285 (GRCm39) |
L43P |
probably benign |
Het |
E2f8 |
T |
C |
7: 48,520,525 (GRCm39) |
M599V |
probably benign |
Het |
Eif3a |
A |
T |
19: 60,755,319 (GRCm39) |
D954E |
unknown |
Het |
Gfpt1 |
T |
A |
6: 87,065,230 (GRCm39) |
|
probably null |
Het |
Ggps1 |
T |
G |
13: 14,228,587 (GRCm39) |
S145R |
probably benign |
Het |
Gon4l |
A |
G |
3: 88,803,400 (GRCm39) |
D1337G |
probably damaging |
Het |
Gtf2a1l |
G |
T |
17: 89,001,531 (GRCm39) |
G82V |
probably damaging |
Het |
Gucy1b1 |
C |
A |
3: 81,965,584 (GRCm39) |
L87F |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,890,311 (GRCm39) |
V76A |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,129,294 (GRCm39) |
E460G |
probably damaging |
Het |
Kdm4b |
C |
T |
17: 56,703,916 (GRCm39) |
R756W |
probably damaging |
Het |
Lax1 |
T |
A |
1: 133,611,834 (GRCm39) |
I34F |
probably benign |
Het |
Marveld3 |
A |
T |
8: 110,680,960 (GRCm39) |
C312S |
probably damaging |
Het |
Ncoa2 |
T |
C |
1: 13,237,254 (GRCm39) |
D824G |
possibly damaging |
Het |
Nrxn2 |
C |
A |
19: 6,548,358 (GRCm39) |
A17D |
possibly damaging |
Het |
Nup133 |
A |
T |
8: 124,665,031 (GRCm39) |
I220N |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,189,751 (GRCm39) |
V984A |
probably benign |
Het |
Nup54 |
A |
T |
5: 92,570,853 (GRCm39) |
D318E |
probably damaging |
Het |
Obp2a |
A |
T |
2: 25,591,151 (GRCm39) |
K94N |
probably damaging |
Het |
Or2ak5 |
A |
T |
11: 58,611,196 (GRCm39) |
I226N |
probably benign |
Het |
Or5b3 |
T |
C |
19: 13,388,403 (GRCm39) |
S157P |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,763,820 (GRCm39) |
I564V |
probably benign |
Het |
Parpbp |
A |
G |
10: 87,969,020 (GRCm39) |
V142A |
possibly damaging |
Het |
Rdh16f2 |
A |
T |
10: 127,712,201 (GRCm39) |
R219S |
probably benign |
Het |
Rfx6 |
C |
T |
10: 51,584,683 (GRCm39) |
R228C |
probably damaging |
Het |
Rpap2 |
A |
G |
5: 107,749,767 (GRCm39) |
|
probably null |
Het |
Rskr |
T |
G |
11: 78,183,846 (GRCm39) |
|
probably null |
Het |
Srebf1 |
T |
C |
11: 60,097,930 (GRCm39) |
E58G |
possibly damaging |
Het |
Tmem214 |
C |
A |
5: 31,028,068 (GRCm39) |
T96K |
possibly damaging |
Het |
Usp19 |
T |
C |
9: 108,373,579 (GRCm39) |
Y691H |
probably damaging |
Het |
Vmn1r86 |
C |
T |
7: 12,836,125 (GRCm39) |
W200* |
probably null |
Het |
Vmn2r8 |
A |
T |
5: 108,945,248 (GRCm39) |
S786R |
probably damaging |
Het |
Vps52 |
T |
A |
17: 34,175,068 (GRCm39) |
M1K |
probably null |
Het |
Zzef1 |
T |
A |
11: 72,714,891 (GRCm39) |
|
probably null |
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 |
|
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'- ATGCCTGTGTCCATCATGAAAATAC -3'
(R):5'- GTTGAGAAATTCCACCATTAGGAAG -3'
Sequencing Primer
(F):5'- TGTGTCCATCATGAAAATACAAAAAC -3'
(R):5'- CTTTCAGGTCCCAGTGAGAGATAC -3'
|
Posted On |
2017-06-26 |