Incidental Mutation 'IGL01511:Slc15a2'
| ID |
89219 |
| 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 # |
IGL01511
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36605088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 23
(T23S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023616]
[ENSMUST00000164579]
[ENSMUST00000165380]
[ENSMUST00000165531]
[ENSMUST00000168279]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023616
AA Change: T23S
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
AA Change: T23S
| 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: T23S
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132029
Gene: ENSMUSG00000022899
AA Change: T23S
| 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 damaging
Transcript: ENSMUST00000165380
AA Change: T23S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131395
Gene: ENSMUSG00000022899
AA Change: T23S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165531
AA Change: T23S
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
AA Change: T23S
| 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: T23S
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000132885
Gene: ENSMUSG00000022899
AA Change: T23S
| 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
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,135,136 (GRCm39) |
D216E |
probably benign |
Het |
| Abcc4 |
C |
A |
14: 118,836,753 (GRCm39) |
L669F |
probably benign |
Het |
| Adam29 |
C |
T |
8: 56,324,456 (GRCm39) |
G666D |
probably damaging |
Het |
| Adat2 |
T |
G |
10: 13,435,982 (GRCm39) |
M109R |
probably null |
Het |
| Atf3 |
T |
A |
1: 190,903,693 (GRCm39) |
T178S |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,933,998 (GRCm39) |
Y2522* |
probably null |
Het |
| Ccr8 |
G |
A |
9: 119,923,691 (GRCm39) |
G269R |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Chrna4 |
C |
T |
2: 180,670,461 (GRCm39) |
V432I |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,322,722 (GRCm39) |
V65A |
probably benign |
Het |
| Cyp2j13 |
A |
G |
4: 95,965,552 (GRCm39) |
F52L |
possibly damaging |
Het |
| Desi1 |
T |
A |
15: 81,886,789 (GRCm39) |
K45* |
probably null |
Het |
| Dmbt1 |
T |
A |
7: 130,718,457 (GRCm39) |
M1552K |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,791,093 (GRCm39) |
M197I |
possibly damaging |
Het |
| Dnah7a |
A |
C |
1: 53,458,754 (GRCm39) |
L3795V |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,905,558 (GRCm39) |
D741G |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,660,135 (GRCm39) |
|
probably null |
Het |
| Fbxw18 |
A |
T |
9: 109,517,889 (GRCm39) |
S366T |
possibly damaging |
Het |
| Fzd8 |
A |
G |
18: 9,213,293 (GRCm39) |
Y125C |
unknown |
Het |
| Gcsam |
T |
C |
16: 45,436,315 (GRCm39) |
Y11H |
probably damaging |
Het |
| Gucy2f |
G |
T |
X: 140,944,730 (GRCm39) |
D410E |
probably damaging |
Het |
| Hdac3 |
C |
T |
18: 38,085,648 (GRCm39) |
A53T |
probably benign |
Het |
| Lamp2 |
A |
G |
X: 37,520,752 (GRCm39) |
L244P |
probably damaging |
Het |
| Lrrk1 |
A |
T |
7: 65,915,198 (GRCm39) |
F1630Y |
possibly damaging |
Het |
| M1ap |
C |
A |
6: 83,005,393 (GRCm39) |
D434E |
probably benign |
Het |
| Mcmbp |
A |
G |
7: 128,308,888 (GRCm39) |
Y378H |
probably damaging |
Het |
| Mvb12a |
T |
A |
8: 71,997,946 (GRCm39) |
V120E |
probably damaging |
Het |
| Nbeal2 |
A |
C |
9: 110,458,302 (GRCm39) |
W2063G |
probably damaging |
Het |
| Neto1 |
A |
C |
18: 86,414,033 (GRCm39) |
H9P |
possibly damaging |
Het |
| Nmu |
C |
T |
5: 76,488,668 (GRCm39) |
V126M |
probably damaging |
Het |
| Odf2 |
T |
C |
2: 29,804,321 (GRCm39) |
|
probably benign |
Het |
| Or2y15 |
A |
G |
11: 49,351,043 (GRCm39) |
E179G |
probably damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,130,217 (GRCm39) |
H533R |
possibly damaging |
Het |
| Pikfyve |
G |
T |
1: 65,298,028 (GRCm39) |
E1586* |
probably null |
Het |
| Plcb3 |
C |
A |
19: 6,933,211 (GRCm39) |
R970L |
probably damaging |
Het |
| Plxna3 |
A |
G |
X: 73,378,914 (GRCm39) |
E686G |
probably damaging |
Het |
| Polrmt |
T |
A |
10: 79,575,985 (GRCm39) |
Y586F |
probably benign |
Het |
| Ppt1 |
T |
A |
4: 122,748,218 (GRCm39) |
F225I |
probably damaging |
Het |
| Prcc |
T |
G |
3: 87,779,548 (GRCm39) |
D162A |
probably damaging |
Het |
| Ripor1 |
T |
C |
8: 106,346,562 (GRCm39) |
|
probably benign |
Het |
| Rnaseh1 |
A |
G |
12: 28,709,008 (GRCm39) |
H263R |
probably damaging |
Het |
| Rnf19b |
T |
A |
4: 128,974,211 (GRCm39) |
S490R |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,003,121 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
T |
C |
14: 49,536,334 (GRCm39) |
M434V |
probably benign |
Het |
| Slc52a3 |
C |
T |
2: 151,846,564 (GRCm39) |
T175I |
probably benign |
Het |
| Slc5a2 |
C |
T |
7: 127,869,794 (GRCm39) |
T409M |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,400,892 (GRCm39) |
S108P |
probably benign |
Het |
| Thnsl2 |
T |
G |
6: 71,116,777 (GRCm39) |
Q125P |
probably benign |
Het |
| Ttc13 |
T |
C |
8: 125,403,110 (GRCm39) |
D672G |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,584,089 (GRCm39) |
H14013N |
possibly damaging |
Het |
| Unc5a |
T |
C |
13: 55,152,629 (GRCm39) |
F792L |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,439,430 (GRCm39) |
V669A |
possibly damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,314 (GRCm39) |
M158L |
probably benign |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,384 (GRCm39) |
V104D |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,831,520 (GRCm39) |
|
probably null |
Het |
| Zscan5b |
A |
C |
7: 6,234,421 (GRCm39) |
H149P |
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 |
|
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation