Incidental Mutation 'R5503:Slc15a2'
ID |
430780 |
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 |
043064-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R5503 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 36582747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 214
(V214M)
|
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: V245M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023616 Gene: ENSMUSG00000022899 AA Change: V245M
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: 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 damaging
Transcript: ENSMUST00000165531
AA Change: V214M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132663 Gene: ENSMUSG00000022899 AA Change: V214M
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
|
Meta Mutation Damage Score |
0.6954 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.5%
|
Validation Efficiency |
96% (103/107) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
Abca6 |
A |
G |
11: 110,109,083 (GRCm39) |
S696P |
probably damaging |
Het |
Abca9 |
G |
A |
11: 110,032,436 (GRCm39) |
T727M |
probably damaging |
Het |
Alpk2 |
T |
C |
18: 65,439,312 (GRCm39) |
R1161G |
probably benign |
Het |
Amy1 |
T |
C |
3: 113,349,709 (GRCm39) |
D487G |
probably benign |
Het |
Arap2 |
G |
A |
5: 62,787,529 (GRCm39) |
A1409V |
probably damaging |
Het |
B4galt6 |
C |
A |
18: 20,878,409 (GRCm39) |
|
probably null |
Het |
Cacna1s |
G |
A |
1: 136,014,480 (GRCm39) |
G382D |
probably damaging |
Het |
Camk2a |
A |
G |
18: 61,111,072 (GRCm39) |
D87G |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,436,620 (GRCm39) |
Y492C |
probably damaging |
Het |
Cert1 |
C |
T |
13: 96,679,747 (GRCm39) |
R26C |
possibly damaging |
Het |
Col18a1 |
C |
T |
10: 76,907,454 (GRCm39) |
G861D |
probably damaging |
Het |
Crybg1 |
C |
A |
10: 43,874,762 (GRCm39) |
S782I |
probably benign |
Het |
Csgalnact1 |
G |
A |
8: 68,914,125 (GRCm39) |
L27F |
probably damaging |
Het |
Dab1 |
T |
A |
4: 104,369,461 (GRCm39) |
C3S |
probably benign |
Het |
Dapk1 |
T |
C |
13: 60,873,126 (GRCm39) |
F343L |
probably benign |
Het |
Dgat1 |
A |
T |
15: 76,386,394 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
C |
A |
12: 117,844,186 (GRCm39) |
|
probably null |
Het |
Dsg2 |
T |
A |
18: 20,713,708 (GRCm39) |
Y226* |
probably null |
Het |
Epg5 |
T |
A |
18: 77,994,422 (GRCm39) |
M351K |
possibly damaging |
Het |
F13b |
A |
G |
1: 139,450,281 (GRCm39) |
T648A |
probably benign |
Het |
Fgf17 |
T |
C |
14: 70,874,408 (GRCm39) |
Y127C |
probably damaging |
Het |
Fkbp15 |
G |
A |
4: 62,246,124 (GRCm39) |
P435S |
probably benign |
Het |
Gfm1 |
G |
A |
3: 67,361,060 (GRCm39) |
|
probably null |
Het |
Gigyf1 |
T |
C |
5: 137,521,729 (GRCm39) |
|
probably benign |
Het |
Gm12830 |
A |
T |
4: 114,678,936 (GRCm39) |
T6S |
unknown |
Het |
Gm6465 |
A |
T |
5: 11,898,150 (GRCm39) |
N88I |
probably damaging |
Het |
Gpr18 |
C |
T |
14: 122,149,159 (GRCm39) |
V289I |
probably damaging |
Het |
Ipp |
G |
T |
4: 116,395,135 (GRCm39) |
E557* |
probably null |
Het |
Klhl12 |
T |
A |
1: 134,413,653 (GRCm39) |
|
probably null |
Het |
Klhl38 |
A |
G |
15: 58,185,745 (GRCm39) |
V328A |
possibly damaging |
Het |
Kndc1 |
A |
G |
7: 139,511,802 (GRCm39) |
T1470A |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,957,939 (GRCm39) |
D2173E |
possibly damaging |
Het |
Lipi |
T |
C |
16: 75,370,864 (GRCm39) |
K118E |
probably benign |
Het |
Marf1 |
A |
C |
16: 13,970,095 (GRCm39) |
L208R |
probably damaging |
Het |
Misp |
G |
A |
10: 79,662,552 (GRCm39) |
R323K |
probably damaging |
Het |
Mlxip |
T |
A |
5: 123,533,390 (GRCm39) |
M133K |
probably damaging |
Het |
Mon2 |
A |
T |
10: 122,868,550 (GRCm39) |
M501K |
possibly damaging |
Het |
Myh2 |
A |
G |
11: 67,064,275 (GRCm39) |
I77V |
probably benign |
Het |
Napa |
C |
A |
7: 15,849,549 (GRCm39) |
Q254K |
probably benign |
Het |
Nckap5l |
C |
A |
15: 99,323,503 (GRCm39) |
G1000V |
probably damaging |
Het |
Neo1 |
A |
T |
9: 58,892,933 (GRCm39) |
S236R |
possibly damaging |
Het |
Neurl4 |
T |
A |
11: 69,797,194 (GRCm39) |
Y594N |
probably damaging |
Het |
Nmral1 |
G |
A |
16: 4,533,493 (GRCm39) |
P94L |
probably benign |
Het |
Notch3 |
A |
T |
17: 32,366,029 (GRCm39) |
I1024N |
probably benign |
Het |
Nsd1 |
T |
A |
13: 55,393,752 (GRCm39) |
I451K |
probably damaging |
Het |
Nt5c3b |
T |
C |
11: 100,323,883 (GRCm39) |
D143G |
probably benign |
Het |
Oplah |
A |
G |
15: 76,189,646 (GRCm39) |
|
probably null |
Het |
Or13a17 |
A |
C |
7: 140,271,309 (GRCm39) |
M164L |
probably benign |
Het |
Or2ak4 |
T |
A |
11: 58,649,154 (GRCm39) |
V221E |
probably damaging |
Het |
Or6b2b |
C |
A |
1: 92,418,918 (GRCm39) |
K186N |
probably benign |
Het |
Or7d10 |
A |
G |
9: 19,831,675 (GRCm39) |
T57A |
probably benign |
Het |
Or8b48 |
T |
C |
9: 38,493,368 (GRCm39) |
V265A |
probably benign |
Het |
Or8g19 |
A |
G |
9: 39,055,780 (GRCm39) |
N128S |
probably benign |
Het |
Phb2 |
T |
A |
6: 124,689,985 (GRCm39) |
|
probably benign |
Het |
Plcl2 |
A |
G |
17: 50,816,957 (GRCm39) |
I108V |
probably benign |
Het |
Plpp6 |
T |
A |
19: 28,942,146 (GRCm39) |
M249K |
probably damaging |
Het |
Pnpt1 |
G |
A |
11: 29,088,156 (GRCm39) |
G189E |
probably damaging |
Het |
Pramel17 |
A |
T |
4: 101,692,999 (GRCm39) |
Y334N |
probably benign |
Het |
Ptprn |
C |
T |
1: 75,228,519 (GRCm39) |
V853M |
probably damaging |
Het |
Ptprq |
T |
C |
10: 107,524,189 (GRCm39) |
|
probably null |
Het |
Rai1 |
G |
A |
11: 60,077,279 (GRCm39) |
V448I |
probably benign |
Het |
Rbm20 |
T |
A |
19: 53,839,785 (GRCm39) |
C925S |
possibly damaging |
Het |
Rin3 |
C |
A |
12: 102,279,314 (GRCm39) |
P41Q |
probably benign |
Het |
Rpl31-ps21 |
T |
C |
5: 21,324,505 (GRCm39) |
|
noncoding transcript |
Het |
Rpl39-ps |
A |
T |
15: 102,543,561 (GRCm39) |
|
noncoding transcript |
Het |
Rtn4ip1 |
T |
A |
10: 43,783,879 (GRCm39) |
D133E |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,768,453 (GRCm39) |
K2839E |
possibly damaging |
Het |
Septin5 |
T |
C |
16: 18,442,118 (GRCm39) |
K268R |
probably benign |
Het |
Serpinb6b |
T |
A |
13: 33,161,642 (GRCm39) |
D238E |
possibly damaging |
Het |
Smarca2 |
T |
C |
19: 26,601,336 (GRCm39) |
M18T |
probably damaging |
Het |
Smarca2 |
C |
A |
19: 26,659,446 (GRCm39) |
T912K |
possibly damaging |
Het |
Smdt1 |
A |
T |
15: 82,232,101 (GRCm39) |
R46S |
possibly damaging |
Het |
Spa17 |
A |
C |
9: 37,523,273 (GRCm39) |
F5V |
probably damaging |
Het |
Spag17 |
A |
G |
3: 99,934,560 (GRCm39) |
E614G |
possibly damaging |
Het |
Sstr4 |
CGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
2: 148,237,471 (GRCm39) |
|
probably benign |
Het |
Tlr1 |
A |
T |
5: 65,083,635 (GRCm39) |
V314D |
probably damaging |
Het |
Trappc8 |
A |
T |
18: 20,969,957 (GRCm39) |
L1011Q |
probably benign |
Het |
Tsga10 |
A |
G |
1: 37,800,028 (GRCm39) |
*691Q |
probably null |
Het |
Vav1 |
A |
T |
17: 57,610,079 (GRCm39) |
K420* |
probably null |
Het |
Vmn1r174 |
C |
G |
7: 23,453,562 (GRCm39) |
T76R |
probably benign |
Het |
Vmn2r116 |
A |
G |
17: 23,605,778 (GRCm39) |
E230G |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,452,312 (GRCm39) |
T637A |
probably damaging |
Het |
Zbtb7a |
A |
G |
10: 80,980,631 (GRCm39) |
E275G |
probably damaging |
Het |
Zfp280b |
A |
G |
10: 75,875,296 (GRCm39) |
|
probably null |
Het |
Zfp763 |
A |
G |
17: 33,238,507 (GRCm39) |
Y213H |
possibly damaging |
Het |
Zfp78 |
T |
A |
7: 6,381,528 (GRCm39) |
W161R |
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 |
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 |
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'- AAAGCCTATGCCCATGTGTGG -3'
(R):5'- AACTGTGCACTCCGGAAAG -3'
Sequencing Primer
(F):5'- GAGAACCACTTGTTTAGCATGGCAC -3'
(R):5'- GGGCAGAAATGACTTCAATCTCTGC -3'
|
Posted On |
2016-10-05 |