Incidental Mutation 'IGL02507:Slc15a2'
| ID |
296405 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc15a2
|
| Ensembl Gene |
ENSMUSG00000022899 |
| Gene Name |
solute carrier family 15 (H+/peptide transporter), member 2 |
| Synonyms |
Pept2, 8430408C16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
IGL02507
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36602021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 92
(T92M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132663
(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: T92M
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
AA Change: T92M
| 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: ENSMUST00000164579
AA Change: T92M
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132029
Gene: ENSMUSG00000022899
AA Change: T92M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
|
Pfam:PTR2
|
122 |
244 |
7.3e-51 |
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 |
possibly damaging
Transcript: ENSMUST00000165531
AA Change: T92M
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
AA Change: T92M
| 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 benign
Transcript: ENSMUST00000168279
AA Change: T92M
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132885
Gene: ENSMUSG00000022899
AA Change: T92M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
|
Pfam:PTR2
|
122 |
189 |
4.1e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171395
|
| Coding Region Coverage |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,349,388 (GRCm39) |
Y3654C |
probably damaging |
Het |
| Aldh1l2 |
A |
C |
10: 83,328,448 (GRCm39) |
Y756* |
probably null |
Het |
| Arhgef12 |
T |
C |
9: 42,903,859 (GRCm39) |
E733G |
probably damaging |
Het |
| Art5 |
A |
T |
7: 101,748,699 (GRCm39) |
M1K |
probably null |
Het |
| Atp1a2 |
A |
T |
1: 172,113,338 (GRCm39) |
D448E |
probably damaging |
Het |
| Atp6v1b1 |
C |
T |
6: 83,733,837 (GRCm39) |
T356I |
possibly damaging |
Het |
| Celsr1 |
A |
G |
15: 85,784,889 (GRCm39) |
|
probably benign |
Het |
| Cep89 |
A |
G |
7: 35,134,990 (GRCm39) |
Y686C |
probably damaging |
Het |
| Cgrrf1 |
T |
A |
14: 47,090,901 (GRCm39) |
Y212* |
probably null |
Het |
| Chrnb1 |
T |
C |
11: 69,675,916 (GRCm39) |
Y442C |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,284,007 (GRCm39) |
|
probably benign |
Het |
| Clcn7 |
G |
A |
17: 25,363,443 (GRCm39) |
V40M |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,148,860 (GRCm39) |
Y369C |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 17,584,992 (GRCm39) |
|
probably benign |
Het |
| Dpy19l2 |
A |
T |
9: 24,542,563 (GRCm39) |
C446S |
probably benign |
Het |
| Edem3 |
G |
A |
1: 151,687,407 (GRCm39) |
E782K |
probably benign |
Het |
| Efcab15 |
T |
A |
11: 103,090,275 (GRCm39) |
Q287L |
probably damaging |
Het |
| Ephb3 |
T |
A |
16: 21,039,389 (GRCm39) |
|
probably benign |
Het |
| Fndc4 |
T |
C |
5: 31,452,090 (GRCm39) |
D109G |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,805,267 (GRCm39) |
V1303A |
possibly damaging |
Het |
| Gcn1 |
T |
C |
5: 115,723,940 (GRCm39) |
L532P |
probably benign |
Het |
| Gm5150 |
A |
G |
3: 16,017,485 (GRCm39) |
L262P |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,477,091 (GRCm39) |
|
probably benign |
Het |
| Krt74 |
A |
G |
15: 101,669,059 (GRCm39) |
|
noncoding transcript |
Het |
| Myo1a |
T |
C |
10: 127,548,478 (GRCm39) |
V375A |
probably damaging |
Het |
| Nup160 |
A |
T |
2: 90,560,079 (GRCm39) |
Q1268L |
probably benign |
Het |
| Or4k42 |
G |
A |
2: 111,319,768 (GRCm39) |
T245M |
possibly damaging |
Het |
| Or51ag1 |
G |
T |
7: 103,155,925 (GRCm39) |
S76* |
probably null |
Het |
| Or5d16 |
G |
A |
2: 87,773,262 (GRCm39) |
R237* |
probably null |
Het |
| Or9s27 |
T |
C |
1: 92,516,648 (GRCm39) |
S199P |
possibly damaging |
Het |
| Pan3 |
T |
C |
5: 147,463,406 (GRCm39) |
S497P |
probably damaging |
Het |
| Pex5 |
T |
C |
6: 124,390,264 (GRCm39) |
T138A |
probably benign |
Het |
| Pik3ap1 |
A |
G |
19: 41,270,451 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,627,764 (GRCm39) |
H75L |
possibly damaging |
Het |
| Rag2 |
A |
T |
2: 101,461,055 (GRCm39) |
H455L |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,470,351 (GRCm39) |
E159V |
probably damaging |
Het |
| Rrn3 |
A |
G |
16: 13,606,721 (GRCm39) |
N109S |
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,108,157 (GRCm39) |
V1523D |
probably damaging |
Het |
| Sec23a |
A |
G |
12: 59,053,884 (GRCm39) |
V38A |
probably benign |
Het |
| Slc2a2 |
A |
G |
3: 28,781,260 (GRCm39) |
T433A |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,906,067 (GRCm39) |
D1671G |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,861,167 (GRCm39) |
|
probably benign |
Het |
| Stau2 |
A |
T |
1: 16,556,293 (GRCm39) |
I22N |
possibly damaging |
Het |
| Strn3 |
A |
T |
12: 51,708,410 (GRCm39) |
Y123* |
probably null |
Het |
| Tmem205 |
A |
G |
9: 21,837,607 (GRCm39) |
V13A |
possibly damaging |
Het |
| Trub1 |
G |
A |
19: 57,472,009 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,568,699 (GRCm39) |
V27398A |
possibly damaging |
Het |
| Vill |
A |
G |
9: 118,899,845 (GRCm39) |
E343G |
possibly damaging |
Het |
| Zgpat |
T |
C |
2: 181,008,029 (GRCm39) |
F189L |
probably damaging |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation