Incidental Mutation 'PIT4581001:Slc15a2'
| ID |
556534 |
| Institutional Source |
Beutler Lab
|
| 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: 0.120)
|
| Stock # |
PIT4581001 (G1)
|
| Quality Score |
141.008 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36592405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 251
(C251S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132029
(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
|
| SMART Domains |
Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
| 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: C251S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132029
Gene: ENSMUSG00000022899
AA Change: C251S
| 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 |
probably benign
Transcript: ENSMUST00000165531
|
| SMART Domains |
Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
| 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
|
| SMART Domains |
Protein: ENSMUSP00000132885
Gene: ENSMUSG00000022899
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
|
Pfam:PTR2
|
122 |
189 |
4.1e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 92.9%
- 3x: 90.6%
- 10x: 84.5%
- 20x: 71.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,251,139 (GRCm39) |
H522R |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,626,666 (GRCm39) |
I724N |
probably damaging |
Het |
| Cdk2ap1rt |
A |
G |
11: 48,716,971 (GRCm39) |
I69T |
possibly damaging |
Het |
| Cstdc6 |
T |
C |
16: 36,143,294 (GRCm39) |
I52V |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,150,370 (GRCm39) |
C210S |
probably damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,442,652 (GRCm39) |
E365G |
probably damaging |
Het |
| Dbi |
A |
T |
1: 120,047,642 (GRCm39) |
V85E |
probably damaging |
Het |
| Dhrs7b |
A |
G |
11: 60,742,723 (GRCm39) |
I153M |
possibly damaging |
Het |
| Dock10 |
C |
A |
1: 80,483,163 (GRCm39) |
C2096F |
probably damaging |
Het |
| Eid3 |
T |
A |
10: 82,703,589 (GRCm39) |
I350K |
probably damaging |
Het |
| Fam83b |
A |
T |
9: 76,398,434 (GRCm39) |
F890I |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,703,160 (GRCm39) |
D308N |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,140,302 (GRCm39) |
D822G |
unknown |
Het |
| Gabra5 |
T |
C |
7: 57,138,605 (GRCm39) |
T148A |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,430,011 (GRCm39) |
D526G |
probably benign |
Het |
| Gm21698 |
T |
A |
5: 26,192,350 (GRCm39) |
T79S |
probably benign |
Het |
| Gon4l |
T |
G |
3: 88,802,821 (GRCm39) |
V1144G |
probably damaging |
Het |
| Ighv1-24 |
A |
T |
12: 114,736,803 (GRCm39) |
N32K |
probably benign |
Het |
| Islr |
T |
C |
9: 58,064,484 (GRCm39) |
N341S |
possibly damaging |
Het |
| Mybph |
A |
G |
1: 134,122,479 (GRCm39) |
T175A |
probably benign |
Het |
| Mycn |
T |
C |
12: 12,990,244 (GRCm39) |
K51E |
possibly damaging |
Het |
| Myh14 |
T |
C |
7: 44,262,906 (GRCm39) |
N1763D |
probably benign |
Het |
| Myrip |
T |
C |
9: 120,296,583 (GRCm39) |
S831P |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,178,814 (GRCm39) |
A1314E |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,011,778 (GRCm39) |
Y599H |
probably damaging |
Het |
| Npr1 |
C |
A |
3: 90,369,564 (GRCm39) |
G387V |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,995 (GRCm39) |
D119V |
probably damaging |
Het |
| Orai2 |
G |
A |
5: 136,179,364 (GRCm39) |
T223M |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,910 (GRCm39) |
E786G |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,576,374 (GRCm39) |
T749A |
probably benign |
Het |
| Pdzrn3 |
A |
G |
6: 101,128,464 (GRCm39) |
V734A |
probably benign |
Het |
| Pkd1l1 |
GCC |
GCCC |
11: 8,866,298 (GRCm39) |
|
probably null |
Het |
| Recql5 |
C |
A |
11: 115,823,682 (GRCm39) |
K21N |
possibly damaging |
Het |
| Rimbp3 |
G |
A |
16: 17,028,580 (GRCm39) |
S668N |
possibly damaging |
Het |
| Sdr42e1 |
A |
T |
8: 118,390,257 (GRCm39) |
I128N |
probably damaging |
Het |
| Shprh |
TAAAA |
T |
10: 11,068,238 (GRCm39) |
|
probably null |
Het |
| Slc17a4 |
A |
T |
13: 24,086,001 (GRCm39) |
S329T |
probably damaging |
Het |
| Slc35a1 |
A |
G |
4: 34,669,501 (GRCm39) |
V246A |
possibly damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,148,701 (GRCm39) |
S260R |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,351,050 (GRCm39) |
I177L |
possibly damaging |
Het |
| Tmcc1 |
A |
G |
6: 116,020,417 (GRCm39) |
V345A |
|
Het |
| Tmod2 |
T |
C |
9: 75,504,583 (GRCm39) |
Y12C |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,893,790 (GRCm39) |
W1035R |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,618,974 (GRCm39) |
S126P |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,564,305 (GRCm39) |
S28576P |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,299,858 (GRCm39) |
W255R |
probably benign |
Het |
| Vmn2r5 |
T |
A |
3: 64,411,348 (GRCm39) |
K407* |
probably null |
Het |
| Vps13b |
G |
T |
15: 35,534,409 (GRCm39) |
W908C |
probably damaging |
Het |
| Ykt6 |
A |
G |
11: 5,912,747 (GRCm39) |
K150E |
possibly damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,319,265 (GRCm39) |
Y254H |
possibly damaging |
Het |
| Zfp217 |
A |
G |
2: 169,956,503 (GRCm39) |
S832P |
probably benign |
Het |
| Zfp595 |
A |
G |
13: 67,465,949 (GRCm39) |
S108P |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,796,756 (GRCm39) |
F727L |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,790,498 (GRCm39) |
V2151I |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCGAACTCCTGATTGGTAATCC -3'
(R):5'- CACCAAGAGCCTGACCTTATAG -3'
Sequencing Primer
(F):5'- GTAACTCCAGTTCCAGAGGATCTG -3'
(R):5'- GCCTGACCTTATAGAGTAAAATATGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation