Incidental Mutation 'R1569:Slc15a2'
ID |
177147 |
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 |
039608-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R1569 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36576745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 430
(T430A)
|
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 benign
Transcript: ENSMUST00000023616
AA Change: T461A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000023616 Gene: ENSMUSG00000022899 AA Change: T461A
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 |
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: T430A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000132663 Gene: ENSMUSG00000022899 AA Change: T430A
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: ENSMUST00000172382
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167909
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167941
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.3%
|
Validation Efficiency |
96% (72/75) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
A |
9: 124,056,427 (GRCm39) |
K166* |
probably null |
Het |
Abca2 |
T |
A |
2: 25,329,197 (GRCm39) |
N1012K |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,981,458 (GRCm39) |
V914A |
possibly damaging |
Het |
Akap1 |
T |
A |
11: 88,724,006 (GRCm39) |
M833L |
probably benign |
Het |
Atp2b1 |
T |
A |
10: 98,823,188 (GRCm39) |
H249Q |
probably benign |
Het |
Atp6v0a4 |
A |
G |
6: 38,027,560 (GRCm39) |
V750A |
probably damaging |
Het |
Car6 |
T |
C |
4: 150,285,499 (GRCm39) |
Y23C |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,706,267 (GRCm39) |
T917A |
probably damaging |
Het |
Clmn |
C |
A |
12: 104,747,340 (GRCm39) |
D736Y |
probably damaging |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dennd4c |
G |
A |
4: 86,704,331 (GRCm39) |
R282H |
possibly damaging |
Het |
Dsg1b |
T |
A |
18: 20,529,537 (GRCm39) |
N327K |
probably damaging |
Het |
Eftud2 |
A |
T |
11: 102,745,597 (GRCm39) |
|
probably benign |
Het |
Esyt1 |
G |
T |
10: 128,354,863 (GRCm39) |
S512R |
possibly damaging |
Het |
Fam124b |
T |
C |
1: 80,190,852 (GRCm39) |
Y177C |
possibly damaging |
Het |
Fbxl5 |
A |
T |
5: 43,922,803 (GRCm39) |
I205K |
probably damaging |
Het |
Fcrl1 |
A |
G |
3: 87,292,012 (GRCm39) |
Y57C |
probably damaging |
Het |
Gabpb1 |
A |
T |
2: 126,494,171 (GRCm39) |
D151E |
probably benign |
Het |
Gcc2 |
C |
T |
10: 58,105,993 (GRCm39) |
L310F |
probably benign |
Het |
Hsd11b1 |
C |
G |
1: 192,922,635 (GRCm39) |
E141Q |
probably damaging |
Het |
Htr1b |
A |
G |
9: 81,514,340 (GRCm39) |
V89A |
probably benign |
Het |
Ibsp |
A |
T |
5: 104,458,017 (GRCm39) |
T185S |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,896,771 (GRCm39) |
D1265G |
probably benign |
Het |
Ints9 |
T |
C |
14: 65,217,571 (GRCm39) |
Y33H |
possibly damaging |
Het |
Kif1a |
A |
T |
1: 92,986,532 (GRCm39) |
|
probably benign |
Het |
Lama1 |
A |
T |
17: 68,087,613 (GRCm39) |
|
probably null |
Het |
Lbp |
A |
T |
2: 158,161,607 (GRCm39) |
D223V |
probably damaging |
Het |
Lck |
C |
A |
4: 129,449,449 (GRCm39) |
D283Y |
probably damaging |
Het |
Lcmt2 |
A |
G |
2: 120,970,309 (GRCm39) |
F258S |
probably damaging |
Het |
Lsg1 |
G |
T |
16: 30,399,823 (GRCm39) |
|
probably null |
Het |
Maip1 |
T |
C |
1: 57,452,554 (GRCm39) |
|
probably benign |
Het |
Mark3 |
T |
G |
12: 111,600,180 (GRCm39) |
I465S |
probably benign |
Het |
Marveld2 |
C |
T |
13: 100,737,506 (GRCm39) |
V128I |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,319,022 (GRCm39) |
H750R |
possibly damaging |
Het |
Mdn1 |
A |
T |
4: 32,723,501 (GRCm39) |
Q2479L |
probably null |
Het |
Met |
A |
T |
6: 17,531,503 (GRCm39) |
K594* |
probably null |
Het |
Pak2 |
G |
T |
16: 31,856,113 (GRCm39) |
S241R |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,162,410 (GRCm39) |
I1368V |
possibly damaging |
Het |
Pparg |
T |
C |
6: 115,416,960 (GRCm39) |
I51T |
probably benign |
Het |
Ppp1r18 |
A |
G |
17: 36,179,595 (GRCm39) |
E62G |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,152,475 (GRCm39) |
S86G |
possibly damaging |
Het |
Rabgap1l |
A |
T |
1: 160,529,960 (GRCm39) |
I347K |
probably benign |
Het |
Rdh1 |
A |
T |
10: 127,598,941 (GRCm39) |
M141L |
probably benign |
Het |
Rfx2 |
A |
T |
17: 57,111,326 (GRCm39) |
I82N |
possibly damaging |
Het |
Sh2b2 |
G |
A |
5: 136,260,589 (GRCm39) |
A209V |
possibly damaging |
Het |
Sh3d19 |
G |
A |
3: 86,033,951 (GRCm39) |
R768H |
possibly damaging |
Het |
Sh3rf1 |
C |
T |
8: 61,837,896 (GRCm39) |
P814S |
probably damaging |
Het |
Shbg |
T |
A |
11: 69,508,415 (GRCm39) |
|
probably benign |
Het |
Slc17a3 |
A |
T |
13: 24,039,591 (GRCm39) |
I250F |
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spg11 |
A |
G |
2: 121,932,187 (GRCm39) |
S552P |
probably damaging |
Het |
Srpk2 |
A |
G |
5: 23,719,024 (GRCm39) |
I597T |
probably damaging |
Het |
St6galnac1 |
T |
G |
11: 116,660,097 (GRCm39) |
N72T |
possibly damaging |
Het |
Tecpr2 |
T |
A |
12: 110,911,321 (GRCm39) |
|
probably null |
Het |
Tmem208 |
T |
A |
8: 106,061,462 (GRCm39) |
C163S |
possibly damaging |
Het |
Tpte |
T |
C |
8: 22,835,047 (GRCm39) |
V401A |
probably damaging |
Het |
Trhde |
A |
G |
10: 114,282,093 (GRCm39) |
W795R |
possibly damaging |
Het |
Trpm3 |
G |
A |
19: 22,866,809 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,626,063 (GRCm39) |
T14999S |
possibly damaging |
Het |
Txndc2 |
A |
T |
17: 65,945,921 (GRCm39) |
N85K |
probably benign |
Het |
Yes1 |
A |
G |
5: 32,810,507 (GRCm39) |
Y192C |
probably damaging |
Het |
Zan |
A |
G |
5: 137,427,392 (GRCm39) |
V2415A |
unknown |
Het |
Zfp410 |
T |
A |
12: 84,379,726 (GRCm39) |
C311S |
probably damaging |
Het |
Zfp51 |
A |
T |
17: 21,676,642 (GRCm39) |
M38L |
probably benign |
Het |
Zfp560 |
A |
T |
9: 20,260,011 (GRCm39) |
C284S |
possibly damaging |
Het |
Zfp808 |
C |
T |
13: 62,320,714 (GRCm39) |
R648* |
probably null |
Het |
Zfp976 |
G |
T |
7: 42,262,806 (GRCm39) |
H344N |
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 |
|
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 |
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'- TGGCTTCTGCCTGAACAGAACTTG -3'
(R):5'- TTGCAGTGTAAGCACGCCTACC -3'
Sequencing Primer
(F):5'- GCCTGAACAGAACTTGAACAATTTC -3'
(R):5'- acagattgttgtgagccacc -3'
|
Posted On |
2014-04-24 |