Incidental Mutation 'R6261:Slc15a2'
| ID |
506721 |
| 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 |
044404-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R6261 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36581973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 284
(F284L)
|
| 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: F315L
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
AA Change: F315L
| 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: 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: F284L
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
AA Change: F284L
| 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 |
0.1355 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
100% (65/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
T |
C |
2: 164,636,979 (GRCm39) |
D257G |
probably damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,255,115 (GRCm39) |
V736A |
probably benign |
Het |
| Anln |
A |
G |
9: 22,275,342 (GRCm39) |
L521S |
probably damaging |
Het |
| Arfgap2 |
T |
G |
2: 91,100,627 (GRCm39) |
S311A |
probably benign |
Het |
| Brdt |
A |
T |
5: 107,496,369 (GRCm39) |
E160D |
probably benign |
Het |
| Ccdc187 |
A |
G |
2: 26,166,215 (GRCm39) |
I738T |
probably damaging |
Het |
| Cd59a |
G |
C |
2: 103,934,550 (GRCm39) |
G6A |
probably damaging |
Het |
| Cd5l |
C |
T |
3: 87,275,915 (GRCm39) |
P295L |
probably benign |
Het |
| Cdhr17 |
T |
C |
5: 17,017,183 (GRCm39) |
|
noncoding transcript |
Het |
| Cnot1 |
A |
G |
8: 96,468,549 (GRCm39) |
S1432P |
probably benign |
Het |
| Cnot8 |
T |
A |
11: 58,004,877 (GRCm39) |
I192N |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,257,409 (GRCm39) |
|
probably null |
Het |
| Cuta |
A |
G |
17: 27,158,301 (GRCm39) |
L11P |
possibly damaging |
Het |
| Cyp2c39 |
G |
A |
19: 39,556,463 (GRCm39) |
R433H |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,271,740 (GRCm39) |
Y150* |
probably null |
Het |
| Dcaf15 |
G |
A |
8: 84,825,734 (GRCm39) |
A291V |
probably benign |
Het |
| Dcstamp |
A |
T |
15: 39,618,131 (GRCm39) |
H180L |
possibly damaging |
Het |
| Egfr |
A |
G |
11: 16,839,964 (GRCm39) |
I659M |
probably benign |
Het |
| Fzd8 |
A |
G |
18: 9,214,598 (GRCm39) |
E560G |
possibly damaging |
Het |
| Gm5111 |
A |
T |
6: 48,566,526 (GRCm39) |
|
probably benign |
Het |
| Gm7945 |
T |
C |
14: 41,104,780 (GRCm39) |
T214A |
unknown |
Het |
| Gpi1 |
T |
C |
7: 33,920,170 (GRCm39) |
T168A |
possibly damaging |
Het |
| Gys2 |
T |
C |
6: 142,405,134 (GRCm39) |
I218V |
probably benign |
Het |
| Gzmf |
T |
A |
14: 56,443,949 (GRCm39) |
I74L |
probably benign |
Het |
| Hacl1 |
G |
A |
14: 31,357,728 (GRCm39) |
A70V |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,846,820 (GRCm39) |
L3590* |
probably null |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Igfals |
G |
T |
17: 25,100,339 (GRCm39) |
V477F |
possibly damaging |
Het |
| Igkv8-28 |
A |
T |
6: 70,120,874 (GRCm39) |
V23E |
probably benign |
Het |
| Isg20l2 |
T |
A |
3: 87,839,395 (GRCm39) |
V202E |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,708,599 (GRCm39) |
I288T |
probably benign |
Het |
| Kansl3 |
A |
G |
1: 36,404,686 (GRCm39) |
V88A |
probably benign |
Het |
| Kcna3 |
A |
G |
3: 106,945,266 (GRCm39) |
T510A |
possibly damaging |
Het |
| Map2k5 |
G |
T |
9: 63,245,380 (GRCm39) |
L140I |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,750,336 (GRCm39) |
I1005T |
possibly damaging |
Het |
| Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
| Ms4a14 |
T |
A |
19: 11,281,384 (GRCm39) |
E391D |
probably benign |
Het |
| Mtrf1l |
A |
G |
10: 5,765,550 (GRCm39) |
|
probably null |
Het |
| Myom1 |
A |
G |
17: 71,433,132 (GRCm39) |
N1591S |
probably damaging |
Het |
| Nos1 |
G |
A |
5: 118,074,635 (GRCm39) |
V1060M |
probably benign |
Het |
| Nsun5 |
C |
T |
5: 135,400,385 (GRCm39) |
T142M |
probably damaging |
Het |
| Odc1 |
A |
G |
12: 17,600,655 (GRCm39) |
E430G |
probably benign |
Het |
| Or8g36 |
C |
A |
9: 39,422,105 (GRCm39) |
V304F |
probably benign |
Het |
| P2ry12 |
T |
C |
3: 59,125,328 (GRCm39) |
I116V |
probably null |
Het |
| Patl1 |
T |
A |
19: 11,897,695 (GRCm39) |
V94E |
probably damaging |
Het |
| Plin3 |
A |
T |
17: 56,588,488 (GRCm39) |
Y255* |
probably null |
Het |
| Pou6f1 |
T |
C |
15: 100,477,827 (GRCm39) |
T439A |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,366 (GRCm39) |
K708R |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,748 (GRCm39) |
S916P |
possibly damaging |
Het |
| Rab34 |
T |
A |
11: 78,082,028 (GRCm39) |
|
probably null |
Het |
| Rps7 |
A |
G |
12: 28,685,593 (GRCm39) |
S21P |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,240 (GRCm39) |
L1815Q |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,232,459 (GRCm39) |
Y244C |
probably benign |
Het |
| Slc25a44 |
C |
T |
3: 88,328,218 (GRCm39) |
G72D |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,427,588 (GRCm39) |
T640A |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,439,125 (GRCm39) |
E1591V |
possibly damaging |
Het |
| Tbata |
C |
A |
10: 61,011,644 (GRCm39) |
T60K |
possibly damaging |
Het |
| Tbc1d2 |
T |
A |
4: 46,637,692 (GRCm39) |
T185S |
possibly damaging |
Het |
| Tlcd4 |
T |
A |
3: 121,028,708 (GRCm39) |
I60F |
possibly damaging |
Het |
| Tmem87a |
A |
G |
2: 120,234,502 (GRCm39) |
S14P |
possibly damaging |
Het |
| Tnnt2 |
C |
A |
1: 135,778,292 (GRCm39) |
|
probably null |
Het |
| Trex1 |
A |
G |
9: 108,887,709 (GRCm39) |
V94A |
probably benign |
Het |
| Ubtfl1 |
A |
C |
9: 18,320,592 (GRCm39) |
D40A |
possibly damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,935 (GRCm39) |
Y296N |
probably benign |
Het |
| Zfp521 |
T |
A |
18: 13,977,684 (GRCm39) |
N910Y |
probably damaging |
Het |
| Zfp53 |
A |
G |
17: 21,728,975 (GRCm39) |
E336G |
possibly 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 |
|
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 |
|
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'- ATTTTGTTAGCTTGCAGAGTCC -3'
(R):5'- CAACATTGGCTAGACTGGGC -3'
Sequencing Primer
(F):5'- TTAGCTTGCAGAGTCCACCGTG -3'
(R):5'- GTGGAAACTGCAGAAATACCTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation