Incidental Mutation 'R4684:Slc15a2'
ID |
353560 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc15a2
|
Ensembl Gene |
ENSMUSG00000022899 |
Gene Name |
solute carrier family 15 (H+/peptide transporter), member 2 |
Synonyms |
8430408C16Rik, Pept2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R4684 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
36750177-36784962 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36757849 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 359
(K359N)
|
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 damaging
Transcript: ENSMUST00000023616
AA Change: K390N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023616 Gene: ENSMUSG00000022899 AA Change: K390N
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: ENSMUST00000100308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163471
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164770
|
Predicted Effect |
unknown
Transcript: ENSMUST00000165380
AA Change: K80I
|
SMART Domains |
Protein: ENSMUSP00000131395 Gene: ENSMUSG00000022899 AA Change: K80I
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165531
AA Change: K359N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132663 Gene: ENSMUSG00000022899 AA Change: K359N
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: ENSMUST00000167909
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167941
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172382
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310039H08Rik |
T |
C |
17: 46,772,946 (GRCm38) |
V45A |
probably benign |
Het |
4921509C19Rik |
A |
G |
2: 151,471,871 (GRCm38) |
I629T |
unknown |
Het |
4933402N03Rik |
T |
C |
7: 131,138,684 (GRCm38) |
R268G |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,434,193 (GRCm38) |
R3882* |
probably null |
Het |
Adamts3 |
T |
G |
5: 89,703,007 (GRCm38) |
T558P |
probably damaging |
Het |
Ano2 |
A |
G |
6: 125,790,341 (GRCm38) |
N214S |
probably benign |
Het |
Arhgef4 |
A |
T |
1: 34,811,785 (GRCm38) |
|
probably null |
Het |
Boc |
C |
T |
16: 44,500,380 (GRCm38) |
A306T |
probably benign |
Het |
Capn10 |
T |
C |
1: 92,943,781 (GRCm38) |
F367S |
probably damaging |
Het |
Ccdc6 |
T |
C |
10: 70,189,256 (GRCm38) |
|
probably benign |
Het |
Cobll1 |
G |
T |
2: 65,099,028 (GRCm38) |
S688R |
possibly damaging |
Het |
Cpxm2 |
G |
T |
7: 132,049,038 (GRCm38) |
P631Q |
possibly damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,699,335 (GRCm38) |
V406A |
possibly damaging |
Het |
Cyp4a30b |
T |
A |
4: 115,455,003 (GRCm38) |
Y118N |
probably damaging |
Het |
Dgki |
A |
T |
6: 37,299,846 (GRCm38) |
|
probably benign |
Het |
Disp2 |
A |
G |
2: 118,792,756 (GRCm38) |
N1323S |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,724,409 (GRCm38) |
Y42* |
probably null |
Het |
Eps8l1 |
C |
A |
7: 4,473,945 (GRCm38) |
P471Q |
probably damaging |
Het |
Fam20a |
A |
C |
11: 109,721,687 (GRCm38) |
L10R |
unknown |
Het |
Fpr-rs4 |
T |
A |
17: 18,022,184 (GRCm38) |
I151K |
probably damaging |
Het |
Gga1 |
C |
A |
15: 78,885,309 (GRCm38) |
P161T |
probably damaging |
Het |
Gm8909 |
A |
T |
17: 36,165,858 (GRCm38) |
H241Q |
possibly damaging |
Het |
Gm9923 |
T |
A |
10: 72,309,476 (GRCm38) |
Y52* |
probably null |
Het |
Gucy2g |
A |
G |
19: 55,206,256 (GRCm38) |
F910L |
probably damaging |
Het |
Helz |
T |
C |
11: 107,649,145 (GRCm38) |
V315A |
probably damaging |
Het |
Hk2 |
T |
C |
6: 82,739,648 (GRCm38) |
Y301C |
probably damaging |
Het |
Htt |
C |
T |
5: 34,852,765 (GRCm38) |
P1521S |
probably damaging |
Het |
Iah1 |
T |
C |
12: 21,316,433 (GRCm38) |
M1T |
probably null |
Het |
Ik |
T |
C |
18: 36,752,414 (GRCm38) |
S287P |
probably damaging |
Het |
Itga1 |
T |
A |
13: 115,049,370 (GRCm38) |
D32V |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,373,173 (GRCm38) |
F837S |
probably damaging |
Het |
Klk14 |
A |
G |
7: 43,691,968 (GRCm38) |
I15V |
probably benign |
Het |
Kng2 |
T |
C |
16: 22,987,641 (GRCm38) |
I603V |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 67,773,778 (GRCm38) |
I1267T |
possibly damaging |
Het |
Lrp1b |
A |
C |
2: 40,922,304 (GRCm38) |
L2430V |
probably benign |
Het |
Lrrn3 |
T |
G |
12: 41,454,244 (GRCm38) |
K25Q |
possibly damaging |
Het |
Lta4h |
T |
A |
10: 93,468,816 (GRCm38) |
N233K |
probably benign |
Het |
Mapk13 |
T |
C |
17: 28,770,049 (GRCm38) |
I53T |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,666,430 (GRCm38) |
F123L |
probably damaging |
Het |
Mettl7b |
G |
T |
10: 128,960,702 (GRCm38) |
C79* |
probably null |
Het |
Myh4 |
G |
C |
11: 67,245,811 (GRCm38) |
D472H |
probably damaging |
Het |
Nipa2 |
A |
T |
7: 55,935,826 (GRCm38) |
N121K |
probably benign |
Het |
Nostrin |
C |
T |
2: 69,183,924 (GRCm38) |
T408M |
probably benign |
Het |
Olfr347 |
A |
G |
2: 36,734,674 (GRCm38) |
M118V |
probably damaging |
Het |
Olfr725 |
T |
C |
14: 50,034,830 (GRCm38) |
D191G |
probably damaging |
Het |
Oosp2 |
C |
T |
19: 11,649,653 (GRCm38) |
R102H |
probably damaging |
Het |
Osgin2 |
T |
A |
4: 16,001,946 (GRCm38) |
I202L |
probably benign |
Het |
Pbld2 |
C |
A |
10: 63,057,697 (GRCm38) |
R271S |
probably damaging |
Het |
Pex6 |
C |
T |
17: 46,712,101 (GRCm38) |
T201I |
probably benign |
Het |
Pilra |
T |
C |
5: 137,835,515 (GRCm38) |
I96M |
probably damaging |
Het |
Pllp |
T |
A |
8: 94,677,278 (GRCm38) |
D47V |
possibly damaging |
Het |
Plxna2 |
A |
G |
1: 194,762,594 (GRCm38) |
S765G |
probably benign |
Het |
Prkca |
A |
T |
11: 107,961,608 (GRCm38) |
Y100N |
probably damaging |
Het |
Prkg1 |
T |
A |
19: 31,664,179 (GRCm38) |
K35* |
probably null |
Het |
Psmc2 |
A |
G |
5: 21,803,265 (GRCm38) |
D389G |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,441,125 (GRCm38) |
T2387A |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,129,096 (GRCm38) |
N914S |
probably damaging |
Het |
Ruvbl1 |
C |
A |
6: 88,491,599 (GRCm38) |
T367K |
probably benign |
Het |
Scube2 |
C |
T |
7: 109,810,713 (GRCm38) |
R525H |
probably damaging |
Het |
Sec14l4 |
T |
C |
11: 4,035,200 (GRCm38) |
|
probably null |
Het |
Secisbp2l |
T |
C |
2: 125,745,942 (GRCm38) |
D751G |
probably damaging |
Het |
Setd3 |
T |
C |
12: 108,108,690 (GRCm38) |
D402G |
probably benign |
Het |
Slc25a21 |
A |
G |
12: 57,196,936 (GRCm38) |
S2P |
probably benign |
Het |
Slfn8 |
A |
T |
11: 83,017,506 (GRCm38) |
H70Q |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,647,490 (GRCm38) |
I944V |
probably benign |
Het |
Spg11 |
A |
G |
2: 122,065,076 (GRCm38) |
F1887S |
probably damaging |
Het |
Sptbn4 |
A |
T |
7: 27,366,735 (GRCm38) |
D649E |
possibly damaging |
Het |
Sptbn4 |
T |
C |
7: 27,364,419 (GRCm38) |
E879G |
probably damaging |
Het |
Stx5a |
C |
A |
19: 8,743,361 (GRCm38) |
R121S |
probably damaging |
Het |
Tbcd |
T |
C |
11: 121,493,771 (GRCm38) |
L26P |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,207,437 (GRCm38) |
D649G |
probably benign |
Het |
Tfam |
A |
G |
10: 71,237,847 (GRCm38) |
S32P |
probably benign |
Het |
Trmt44 |
C |
T |
5: 35,558,043 (GRCm38) |
R642H |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,987,781 (GRCm38) |
A1547T |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,153,177 (GRCm38) |
V519A |
probably benign |
Het |
Umodl1 |
T |
C |
17: 30,998,114 (GRCm38) |
F1107L |
probably benign |
Het |
Usp5 |
A |
T |
6: 124,817,956 (GRCm38) |
V677E |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,807,445 (GRCm38) |
L605* |
probably null |
Het |
Utrn |
T |
C |
10: 12,745,240 (GRCm38) |
D229G |
probably damaging |
Het |
Uty |
A |
T |
Y: 1,176,502 (GRCm38) |
L178* |
probably null |
Het |
Vmn2r88 |
A |
T |
14: 51,413,334 (GRCm38) |
D168V |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,646,178 (GRCm38) |
V1476A |
probably damaging |
Het |
Vps13b |
C |
T |
15: 35,841,341 (GRCm38) |
H2506Y |
probably benign |
Het |
Vps13b |
C |
A |
15: 35,879,821 (GRCm38) |
T3014K |
probably benign |
Het |
Vps37c |
T |
C |
19: 10,712,768 (GRCm38) |
V198A |
probably benign |
Het |
Zfc3h1 |
T |
C |
10: 115,423,385 (GRCm38) |
Y1621H |
probably benign |
Het |
Zfp251 |
T |
C |
15: 76,854,407 (GRCm38) |
D162G |
possibly damaging |
Het |
Zfp292 |
T |
C |
4: 34,807,078 (GRCm38) |
T1994A |
probably benign |
Het |
Zfp791 |
A |
G |
8: 85,110,930 (GRCm38) |
Y102H |
probably benign |
Het |
|
Other mutations in Slc15a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00505:Slc15a2
|
APN |
16 |
36,753,775 (GRCm38) |
missense |
probably benign |
0.00 |
IGL00703:Slc15a2
|
APN |
16 |
36,757,791 (GRCm38) |
missense |
probably benign |
0.00 |
IGL00937:Slc15a2
|
APN |
16 |
36,751,880 (GRCm38) |
nonsense |
probably null |
|
IGL01511:Slc15a2
|
APN |
16 |
36,784,726 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL01739:Slc15a2
|
APN |
16 |
36,756,230 (GRCm38) |
missense |
probably benign |
|
IGL02069:Slc15a2
|
APN |
16 |
36,759,251 (GRCm38) |
missense |
probably benign |
0.02 |
IGL02076:Slc15a2
|
APN |
16 |
36,762,381 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02254:Slc15a2
|
APN |
16 |
36,760,087 (GRCm38) |
missense |
possibly damaging |
0.93 |
IGL02387:Slc15a2
|
APN |
16 |
36,751,775 (GRCm38) |
splice site |
probably null |
|
IGL02507:Slc15a2
|
APN |
16 |
36,781,659 (GRCm38) |
missense |
possibly damaging |
0.87 |
IGL02829:Slc15a2
|
APN |
16 |
36,757,193 (GRCm38) |
missense |
possibly damaging |
0.92 |
IGL03114:Slc15a2
|
APN |
16 |
36,751,905 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03227:Slc15a2
|
APN |
16 |
36,756,048 (GRCm38) |
critical splice donor site |
probably null |
|
PIT4581001:Slc15a2
|
UTSW |
16 |
36,772,043 (GRCm38) |
missense |
probably benign |
|
R0058:Slc15a2
|
UTSW |
16 |
36,754,547 (GRCm38) |
missense |
probably benign |
0.08 |
R0058:Slc15a2
|
UTSW |
16 |
36,754,547 (GRCm38) |
missense |
probably benign |
0.08 |
R0083:Slc15a2
|
UTSW |
16 |
36,782,283 (GRCm38) |
missense |
probably damaging |
1.00 |
R0099:Slc15a2
|
UTSW |
16 |
36,753,036 (GRCm38) |
missense |
probably damaging |
1.00 |
R0104:Slc15a2
|
UTSW |
16 |
36,774,635 (GRCm38) |
missense |
possibly damaging |
0.79 |
R0402:Slc15a2
|
UTSW |
16 |
36,775,598 (GRCm38) |
missense |
probably benign |
0.00 |
R0619:Slc15a2
|
UTSW |
16 |
36,759,307 (GRCm38) |
missense |
probably damaging |
1.00 |
R0963:Slc15a2
|
UTSW |
16 |
36,774,573 (GRCm38) |
missense |
probably damaging |
1.00 |
R0972:Slc15a2
|
UTSW |
16 |
36,757,139 (GRCm38) |
missense |
probably benign |
0.00 |
R1440:Slc15a2
|
UTSW |
16 |
36,784,643 (GRCm38) |
splice site |
probably benign |
|
R1471:Slc15a2
|
UTSW |
16 |
36,753,791 (GRCm38) |
missense |
probably damaging |
0.99 |
R1569:Slc15a2
|
UTSW |
16 |
36,756,383 (GRCm38) |
missense |
probably benign |
0.00 |
R1616:Slc15a2
|
UTSW |
16 |
36,754,481 (GRCm38) |
missense |
probably benign |
|
R2246:Slc15a2
|
UTSW |
16 |
36,762,361 (GRCm38) |
missense |
probably damaging |
1.00 |
R2405:Slc15a2
|
UTSW |
16 |
36,751,837 (GRCm38) |
nonsense |
probably null |
|
R3834:Slc15a2
|
UTSW |
16 |
36,772,128 (GRCm38) |
nonsense |
probably null |
|
R3835:Slc15a2
|
UTSW |
16 |
36,772,128 (GRCm38) |
nonsense |
probably null |
|
R3885:Slc15a2
|
UTSW |
16 |
36,782,304 (GRCm38) |
missense |
probably damaging |
1.00 |
R3887:Slc15a2
|
UTSW |
16 |
36,782,304 (GRCm38) |
missense |
probably damaging |
1.00 |
R3888:Slc15a2
|
UTSW |
16 |
36,782,304 (GRCm38) |
missense |
probably damaging |
1.00 |
R3889:Slc15a2
|
UTSW |
16 |
36,782,304 (GRCm38) |
missense |
probably damaging |
1.00 |
R4105:Slc15a2
|
UTSW |
16 |
36,782,393 (GRCm38) |
intron |
probably benign |
|
R4108:Slc15a2
|
UTSW |
16 |
36,782,393 (GRCm38) |
intron |
probably benign |
|
R4254:Slc15a2
|
UTSW |
16 |
36,754,490 (GRCm38) |
missense |
probably benign |
0.04 |
R4352:Slc15a2
|
UTSW |
16 |
36,772,028 (GRCm38) |
missense |
probably benign |
0.08 |
R4747:Slc15a2
|
UTSW |
16 |
36,772,136 (GRCm38) |
missense |
probably damaging |
0.98 |
R4774:Slc15a2
|
UTSW |
16 |
36,781,695 (GRCm38) |
nonsense |
probably null |
|
R5151:Slc15a2
|
UTSW |
16 |
36,752,297 (GRCm38) |
missense |
probably damaging |
1.00 |
R5503:Slc15a2
|
UTSW |
16 |
36,762,385 (GRCm38) |
missense |
probably damaging |
1.00 |
R5649:Slc15a2
|
UTSW |
16 |
36,772,110 (GRCm38) |
nonsense |
probably null |
|
R6003:Slc15a2
|
UTSW |
16 |
36,754,548 (GRCm38) |
missense |
probably benign |
0.00 |
R6261:Slc15a2
|
UTSW |
16 |
36,761,611 (GRCm38) |
missense |
probably benign |
0.25 |
R6329:Slc15a2
|
UTSW |
16 |
36,751,782 (GRCm38) |
missense |
possibly damaging |
0.94 |
R6409:Slc15a2
|
UTSW |
16 |
36,761,870 (GRCm38) |
missense |
probably benign |
0.00 |
R6523:Slc15a2
|
UTSW |
16 |
36,752,321 (GRCm38) |
missense |
probably benign |
0.17 |
R7125:Slc15a2
|
UTSW |
16 |
36,782,298 (GRCm38) |
missense |
probably damaging |
1.00 |
R7208:Slc15a2
|
UTSW |
16 |
36,756,281 (GRCm38) |
missense |
probably benign |
0.02 |
R7234:Slc15a2
|
UTSW |
16 |
36,757,811 (GRCm38) |
missense |
probably benign |
0.05 |
R7374:Slc15a2
|
UTSW |
16 |
36,751,845 (GRCm38) |
missense |
probably benign |
0.01 |
R7545:Slc15a2
|
UTSW |
16 |
36,775,602 (GRCm38) |
missense |
probably damaging |
1.00 |
R7559:Slc15a2
|
UTSW |
16 |
36,751,897 (GRCm38) |
missense |
probably benign |
|
R7611:Slc15a2
|
UTSW |
16 |
36,756,311 (GRCm38) |
missense |
probably benign |
0.18 |
R7787:Slc15a2
|
UTSW |
16 |
36,751,866 (GRCm38) |
missense |
probably benign |
0.02 |
R7825:Slc15a2
|
UTSW |
16 |
36,753,034 (GRCm38) |
missense |
possibly damaging |
0.94 |
R8324:Slc15a2
|
UTSW |
16 |
36,759,307 (GRCm38) |
missense |
probably damaging |
1.00 |
R9035:Slc15a2
|
UTSW |
16 |
36,782,357 (GRCm38) |
missense |
possibly damaging |
0.82 |
R9037:Slc15a2
|
UTSW |
16 |
36,762,363 (GRCm38) |
missense |
probably benign |
0.11 |
R9212:Slc15a2
|
UTSW |
16 |
36,781,691 (GRCm38) |
nonsense |
probably null |
|
R9273:Slc15a2
|
UTSW |
16 |
36,753,728 (GRCm38) |
missense |
probably benign |
0.01 |
R9363:Slc15a2
|
UTSW |
16 |
36,752,310 (GRCm38) |
missense |
possibly damaging |
0.91 |
R9368:Slc15a2
|
UTSW |
16 |
36,753,718 (GRCm38) |
missense |
probably benign |
0.00 |
R9488:Slc15a2
|
UTSW |
16 |
36,759,289 (GRCm38) |
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 |
36,753,789 (GRCm38) |
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 |
36,759,316 (GRCm38) |
critical splice acceptor site |
probably null |
|
Z1177:Slc15a2
|
UTSW |
16 |
36,784,687 (GRCm38) |
frame shift |
probably null |
|
Z1177:Slc15a2
|
UTSW |
16 |
36,772,445 (GRCm38) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTCCCATGAAATGACACTGGTG -3'
(R):5'- AGTCCTTCTTGATGCTCAGACC -3'
Sequencing Primer
(F):5'- CATGAAATGACACTGGTGAGTCCC -3'
(R):5'- TTCTTGATGCTCAGACCAACAAAG -3'
|
Posted On |
2015-10-21 |