Incidental Mutation 'R0972:Slc15a2'
| ID |
82902 |
| 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 |
039101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R0972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36577501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 422
(S422P)
|
| 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: S453P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023616
Gene: ENSMUSG00000022899
AA Change: S453P
| 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: S422P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000132663
Gene: ENSMUSG00000022899
AA Change: S422P
| 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
|
| Meta Mutation Damage Score |
0.1249 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
97% (72/74) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
A |
8: 41,208,168 (GRCm39) |
R478Q |
probably damaging |
Het |
| Adgrf5 |
A |
T |
17: 43,761,874 (GRCm39) |
S1190C |
probably damaging |
Het |
| Akr1a1 |
T |
C |
4: 116,497,204 (GRCm39) |
|
probably null |
Het |
| Bco2 |
A |
T |
9: 50,447,615 (GRCm39) |
D369E |
probably benign |
Het |
| Blm |
A |
T |
7: 80,163,118 (GRCm39) |
S78T |
probably benign |
Het |
| Brsk2 |
C |
G |
7: 141,547,441 (GRCm39) |
|
probably benign |
Het |
| Cct8 |
A |
G |
16: 87,283,508 (GRCm39) |
V269A |
possibly damaging |
Het |
| Cdh12 |
A |
T |
15: 21,237,850 (GRCm39) |
Q28H |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,354,624 (GRCm39) |
T896A |
probably benign |
Het |
| Chrm2 |
T |
A |
6: 36,501,401 (GRCm39) |
N419K |
possibly damaging |
Het |
| Clasp2 |
A |
T |
9: 113,676,773 (GRCm39) |
H168L |
possibly damaging |
Het |
| Cog3 |
A |
T |
14: 75,954,610 (GRCm39) |
M643K |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,817,484 (GRCm39) |
S276P |
unknown |
Het |
| Colgalt2 |
T |
C |
1: 152,347,495 (GRCm39) |
V143A |
probably damaging |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
| Ddx56 |
A |
T |
11: 6,217,718 (GRCm39) |
M1K |
probably null |
Het |
| Dnah3 |
C |
T |
7: 119,634,563 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,136,176 (GRCm39) |
T988A |
possibly damaging |
Het |
| Esp15 |
T |
A |
17: 39,953,557 (GRCm39) |
F15I |
possibly damaging |
Het |
| Fam237b |
T |
A |
5: 5,625,512 (GRCm39) |
D69E |
probably benign |
Het |
| Fbh1 |
C |
T |
2: 11,768,899 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
A |
T |
14: 62,646,127 (GRCm39) |
I572N |
possibly damaging |
Het |
| Gucy1b2 |
T |
C |
14: 62,651,818 (GRCm39) |
I393V |
possibly damaging |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Herc1 |
C |
A |
9: 66,279,427 (GRCm39) |
R112S |
probably damaging |
Het |
| Itga7 |
G |
A |
10: 128,778,746 (GRCm39) |
R291H |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,925,371 (GRCm39) |
L1077S |
possibly damaging |
Het |
| Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
| Klrc2 |
T |
C |
6: 129,635,726 (GRCm39) |
Y134C |
probably damaging |
Het |
| Map2k2 |
C |
A |
10: 80,955,482 (GRCm39) |
D67E |
probably benign |
Het |
| Mest |
G |
A |
6: 30,740,683 (GRCm39) |
W14* |
probably null |
Het |
| Mier2 |
A |
G |
10: 79,380,455 (GRCm39) |
|
probably benign |
Het |
| Mog |
A |
G |
17: 37,328,424 (GRCm39) |
V169A |
probably benign |
Het |
| Mov10l1 |
T |
C |
15: 88,905,482 (GRCm39) |
V879A |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,203 (GRCm39) |
S155P |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,976,457 (GRCm39) |
D418G |
probably damaging |
Het |
| Mtpn |
T |
C |
6: 35,498,911 (GRCm39) |
D58G |
probably null |
Het |
| Myh8 |
A |
G |
11: 67,188,585 (GRCm39) |
R1056G |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,542,465 (GRCm39) |
|
probably null |
Het |
| Or4k38 |
T |
C |
2: 111,165,763 (GRCm39) |
Y220C |
probably benign |
Het |
| Or5al7 |
A |
C |
2: 85,992,648 (GRCm39) |
L215R |
possibly damaging |
Het |
| Or8b36 |
T |
A |
9: 37,937,856 (GRCm39) |
F251L |
possibly damaging |
Het |
| Pcnx1 |
G |
A |
12: 81,960,186 (GRCm39) |
D181N |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,655,592 (GRCm39) |
D495G |
probably benign |
Het |
| Plppr3 |
A |
G |
10: 79,700,920 (GRCm39) |
S641P |
probably damaging |
Het |
| Pramel11 |
T |
A |
4: 143,623,533 (GRCm39) |
T214S |
probably benign |
Het |
| Prelp |
A |
T |
1: 133,842,414 (GRCm39) |
Y244N |
probably damaging |
Het |
| Prg2 |
C |
A |
2: 84,812,393 (GRCm39) |
N34K |
probably benign |
Het |
| Ptp4a1 |
A |
G |
1: 30,984,080 (GRCm39) |
V46A |
possibly damaging |
Het |
| Rpl6 |
A |
G |
5: 121,346,565 (GRCm39) |
D222G |
possibly damaging |
Het |
| Rtp1 |
A |
T |
16: 23,250,058 (GRCm39) |
D141V |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,449,412 (GRCm39) |
Y3819* |
probably null |
Het |
| Serinc5 |
A |
G |
13: 92,825,128 (GRCm39) |
T186A |
probably benign |
Het |
| Slc2a8 |
A |
T |
2: 32,865,379 (GRCm39) |
V366D |
probably benign |
Het |
| Smarca1 |
T |
C |
X: 46,938,864 (GRCm39) |
R715G |
possibly damaging |
Het |
| Spdef |
C |
T |
17: 27,933,997 (GRCm39) |
A275T |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,621 (GRCm39) |
K61R |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,061,753 (GRCm39) |
|
probably benign |
Het |
| Thada |
G |
A |
17: 84,736,490 (GRCm39) |
|
probably benign |
Het |
| Thap11 |
T |
A |
8: 106,582,810 (GRCm39) |
I273N |
probably damaging |
Het |
| Tmem129 |
T |
A |
5: 33,812,112 (GRCm39) |
E262V |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,904,117 (GRCm39) |
Y1086C |
probably damaging |
Het |
| Togaram2 |
A |
G |
17: 72,014,309 (GRCm39) |
Y619C |
probably damaging |
Het |
| Top1 |
C |
T |
2: 160,562,945 (GRCm39) |
A717V |
probably damaging |
Het |
| Trpm7 |
G |
A |
2: 126,646,969 (GRCm39) |
P1507S |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 47,245,187 (GRCm39) |
|
probably null |
Het |
| Usp30 |
T |
C |
5: 114,249,925 (GRCm39) |
|
probably benign |
Het |
| Vmn1r3 |
T |
A |
4: 3,185,125 (GRCm39) |
I61F |
probably damaging |
Het |
| Zbtb22 |
C |
T |
17: 34,136,326 (GRCm39) |
T157I |
possibly damaging |
Het |
| Zfp677 |
A |
T |
17: 21,618,572 (GRCm39) |
H543L |
probably damaging |
Het |
| Zranb3 |
G |
T |
1: 127,884,383 (GRCm39) |
P1001Q |
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 |
|
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 |
|
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'- CGGACAAGGAGGGGTGTTCATTATAAC -3'
(R):5'- TAGCAGGGCTAAGCTGTCAGAGAC -3'
Sequencing Primer
(F):5'- aggcaccaggcacacac -3'
(R):5'- GACAGCACTAACGTACATGTTCTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation