Incidental Mutation 'R1616:Slc15a2'
ID |
174306 |
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 |
039653-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R1616 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36574843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 522
(D522G)
|
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: D553G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023616 Gene: ENSMUSG00000022899 AA Change: D553G
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: 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: D522G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132663 Gene: ENSMUSG00000022899 AA Change: D522G
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: ENSMUST00000167941
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.3%
- 20x: 85.3%
|
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933406P04Rik |
T |
C |
10: 20,187,087 (GRCm39) |
|
probably benign |
Het |
A1cf |
A |
G |
19: 31,912,175 (GRCm39) |
E430G |
probably damaging |
Het |
Aacs |
T |
A |
5: 125,561,590 (GRCm39) |
|
probably null |
Het |
Acot12 |
G |
A |
13: 91,920,886 (GRCm39) |
V331I |
probably benign |
Het |
Acp7 |
A |
G |
7: 28,310,503 (GRCm39) |
W445R |
probably damaging |
Het |
Actl11 |
C |
A |
9: 107,809,135 (GRCm39) |
Q1153K |
probably benign |
Het |
Actr8 |
A |
G |
14: 29,704,601 (GRCm39) |
T34A |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,986,351 (GRCm39) |
D2545G |
possibly damaging |
Het |
Ap5z1 |
A |
G |
5: 142,457,991 (GRCm39) |
Y388C |
probably benign |
Het |
Apol7a |
C |
T |
15: 77,273,806 (GRCm39) |
G219S |
probably damaging |
Het |
Arid1b |
T |
A |
17: 5,389,569 (GRCm39) |
I1705N |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,966,058 (GRCm39) |
Q2669R |
probably benign |
Het |
Braf |
A |
T |
6: 39,620,067 (GRCm39) |
S504T |
probably benign |
Het |
Cbl |
A |
T |
9: 44,064,197 (GRCm39) |
Y780N |
probably damaging |
Het |
Cd86 |
T |
C |
16: 36,449,338 (GRCm39) |
I20V |
probably benign |
Het |
Cep290 |
T |
G |
10: 100,404,698 (GRCm39) |
D2353E |
probably benign |
Het |
Ckmt2 |
G |
A |
13: 92,007,328 (GRCm39) |
R289C |
probably benign |
Het |
Col3a1 |
T |
C |
1: 45,367,648 (GRCm39) |
|
probably null |
Het |
Cyp4f16 |
T |
A |
17: 32,761,942 (GRCm39) |
Y163* |
probably null |
Het |
Dimt1 |
T |
C |
13: 107,089,958 (GRCm39) |
V227A |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,077,095 (GRCm39) |
M2338K |
probably benign |
Het |
Dock4 |
T |
G |
12: 40,719,044 (GRCm39) |
I274S |
probably damaging |
Het |
Enthd1 |
T |
C |
15: 80,336,586 (GRCm39) |
D616G |
probably damaging |
Het |
Fignl2 |
T |
C |
15: 100,951,997 (GRCm39) |
E95G |
probably damaging |
Het |
Foxn1 |
A |
G |
11: 78,249,692 (GRCm39) |
M611T |
probably benign |
Het |
Foxs1 |
T |
C |
2: 152,774,559 (GRCm39) |
S165G |
probably benign |
Het |
Fzd3 |
G |
T |
14: 65,472,956 (GRCm39) |
Q271K |
probably benign |
Het |
Hadhb |
A |
T |
5: 30,371,713 (GRCm39) |
I55F |
probably damaging |
Het |
Hipk3 |
G |
A |
2: 104,264,090 (GRCm39) |
Q824* |
probably null |
Het |
Hps1 |
G |
A |
19: 42,755,624 (GRCm39) |
R201W |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,099,423 (GRCm39) |
S1477P |
probably damaging |
Het |
Kif26a |
A |
T |
12: 112,123,680 (GRCm39) |
|
probably null |
Het |
Krt90 |
T |
C |
15: 101,469,026 (GRCm39) |
E172G |
possibly damaging |
Het |
Lama4 |
T |
G |
10: 38,951,446 (GRCm39) |
F1064V |
probably damaging |
Het |
Leng9 |
A |
G |
7: 4,151,902 (GRCm39) |
V258A |
probably benign |
Het |
Lgi2 |
A |
C |
5: 52,703,980 (GRCm39) |
V217G |
probably benign |
Het |
Lpgat1 |
T |
C |
1: 191,495,741 (GRCm39) |
I310T |
possibly damaging |
Het |
Ltbp3 |
A |
G |
19: 5,796,995 (GRCm39) |
Y374C |
probably damaging |
Het |
Magi2 |
C |
A |
5: 20,814,324 (GRCm39) |
T1075K |
probably damaging |
Het |
Man2c1 |
T |
C |
9: 57,042,793 (GRCm39) |
I221T |
probably benign |
Het |
Mydgf |
A |
G |
17: 56,486,415 (GRCm39) |
M72T |
possibly damaging |
Het |
Myo1b |
T |
C |
1: 51,815,474 (GRCm39) |
N624S |
probably damaging |
Het |
Myo5c |
T |
A |
9: 75,203,299 (GRCm39) |
M1465K |
probably damaging |
Het |
Nek4 |
A |
T |
14: 30,709,094 (GRCm39) |
D716V |
probably damaging |
Het |
Nfxl1 |
T |
A |
5: 72,686,380 (GRCm39) |
Q607L |
probably benign |
Het |
Nlrp9c |
A |
T |
7: 26,083,862 (GRCm39) |
D572E |
probably benign |
Het |
Nop14 |
G |
T |
5: 34,807,757 (GRCm39) |
Q402K |
possibly damaging |
Het |
Npy5r |
C |
G |
8: 67,134,052 (GRCm39) |
C247S |
probably damaging |
Het |
Nrap |
T |
A |
19: 56,378,255 (GRCm39) |
I19F |
probably damaging |
Het |
Or4c102 |
A |
G |
2: 88,422,352 (GRCm39) |
D68G |
probably damaging |
Het |
Or51t4 |
T |
A |
7: 102,597,721 (GRCm39) |
N16K |
probably damaging |
Het |
Or6z3 |
T |
G |
7: 6,463,744 (GRCm39) |
S79A |
probably damaging |
Het |
Pcdh9 |
A |
T |
14: 94,124,405 (GRCm39) |
Y588* |
probably null |
Het |
Ppp1r12a |
A |
G |
10: 108,096,728 (GRCm39) |
E183G |
probably damaging |
Het |
Ppp2r2b |
T |
A |
18: 42,821,375 (GRCm39) |
H261L |
probably benign |
Het |
Ptch1 |
G |
T |
13: 63,687,656 (GRCm39) |
T374K |
possibly damaging |
Het |
Ptpn13 |
A |
T |
5: 103,713,103 (GRCm39) |
N1742I |
possibly damaging |
Het |
Rab33a |
C |
T |
X: 47,608,521 (GRCm39) |
S15L |
probably benign |
Het |
Ralb |
T |
C |
1: 119,405,744 (GRCm39) |
Y75C |
probably damaging |
Het |
Rassf7 |
T |
A |
7: 140,796,645 (GRCm39) |
V2D |
probably damaging |
Het |
Rbm10 |
A |
G |
X: 20,512,230 (GRCm39) |
N397S |
probably benign |
Het |
Rbm15 |
T |
C |
3: 107,238,197 (GRCm39) |
T734A |
probably benign |
Het |
Rbm8a |
G |
T |
3: 96,539,046 (GRCm39) |
|
probably benign |
Het |
Rock2 |
T |
C |
12: 17,022,986 (GRCm39) |
I1095T |
probably benign |
Het |
Rxfp3 |
T |
A |
15: 11,036,389 (GRCm39) |
T328S |
probably damaging |
Het |
Sec31a |
T |
A |
5: 100,534,054 (GRCm39) |
K505N |
possibly damaging |
Het |
Selenof |
A |
G |
3: 144,302,642 (GRCm39) |
*122W |
probably null |
Het |
Sh3pxd2b |
T |
C |
11: 32,331,441 (GRCm39) |
M55T |
possibly damaging |
Het |
Slc2a1 |
T |
C |
4: 118,993,503 (GRCm39) |
F447L |
probably damaging |
Het |
Slc45a2 |
T |
A |
15: 11,022,214 (GRCm39) |
C319S |
probably null |
Het |
Smad4 |
T |
C |
18: 73,773,333 (GRCm39) |
D551G |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,318,662 (GRCm39) |
Y648C |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Stab2 |
A |
T |
10: 86,721,582 (GRCm39) |
|
probably null |
Het |
Tanc1 |
A |
G |
2: 59,615,731 (GRCm39) |
D246G |
probably damaging |
Het |
Tekt3 |
T |
G |
11: 62,978,024 (GRCm39) |
|
probably null |
Het |
Them5 |
G |
A |
3: 94,253,567 (GRCm39) |
|
probably null |
Het |
Tlr4 |
T |
A |
4: 66,757,717 (GRCm39) |
F170Y |
probably damaging |
Het |
Tmem214 |
T |
G |
5: 31,028,907 (GRCm39) |
Y165* |
probably null |
Het |
Tmem94 |
T |
C |
11: 115,686,971 (GRCm39) |
|
probably null |
Het |
Tom1l1 |
A |
G |
11: 90,547,177 (GRCm39) |
L301S |
possibly damaging |
Het |
Trpm3 |
A |
G |
19: 22,960,076 (GRCm39) |
E1237G |
probably damaging |
Het |
Ube2d1 |
C |
A |
10: 71,092,523 (GRCm39) |
C107F |
probably damaging |
Het |
Ugt3a1 |
C |
T |
15: 9,306,330 (GRCm39) |
R160* |
probably null |
Het |
Vcan |
G |
A |
13: 89,853,782 (GRCm39) |
P393S |
probably damaging |
Het |
Virma |
T |
C |
4: 11,544,954 (GRCm39) |
F1638L |
probably damaging |
Het |
Vmn1r31 |
G |
A |
6: 58,449,043 (GRCm39) |
T274I |
probably damaging |
Het |
Xylt2 |
C |
T |
11: 94,559,035 (GRCm39) |
S445N |
probably damaging |
Het |
Zfp457 |
A |
G |
13: 67,444,375 (GRCm39) |
F43L |
possibly damaging |
Het |
Zfp879 |
T |
A |
11: 50,723,473 (GRCm39) |
M455L |
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 |
|
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 |
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'- CGTCACAGAGGTGGGCTGTATTAAC -3'
(R):5'- TGCCTGGCGATTTTACACACTTGG -3'
Sequencing Primer
(F):5'- GTCTCAGCTACCAGTGTAGAAATCAG -3'
(R):5'- GGCGATTTTACACACTTGGAATATAG -3'
|
Posted On |
2014-04-24 |