Incidental Mutation 'R4774:Slc15a2'
ID |
367802 |
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 |
042412-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R4774 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
36570539-36605324 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 36602057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 80
(L80*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023616]
[ENSMUST00000164579]
[ENSMUST00000165380]
[ENSMUST00000165531]
[ENSMUST00000168279]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000023616
AA Change: L80*
|
SMART Domains |
Protein: ENSMUSP00000023616 Gene: ENSMUSG00000022899 AA Change: L80*
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 |
probably null
Transcript: ENSMUST00000164579
AA Change: L80*
|
SMART Domains |
Protein: ENSMUSP00000132029 Gene: ENSMUSG00000022899 AA Change: L80*
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
Pfam:PTR2
|
122 |
244 |
7.3e-51 |
PFAM |
|
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 null
Transcript: ENSMUST00000165531
AA Change: L80*
|
SMART Domains |
Protein: ENSMUSP00000132663 Gene: ENSMUSG00000022899 AA Change: L80*
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 |
probably null
Transcript: ENSMUST00000168279
AA Change: L80*
|
SMART Domains |
Protein: ENSMUSP00000132885 Gene: ENSMUSG00000022899 AA Change: L80*
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
Pfam:PTR2
|
122 |
189 |
4.1e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171395
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
98% (97/99) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,585,043 (GRCm39) |
I844V |
probably damaging |
Het |
Acnat1 |
T |
A |
4: 49,450,784 (GRCm39) |
Y109F |
probably benign |
Het |
Alox12b |
T |
C |
11: 69,054,033 (GRCm39) |
V205A |
probably benign |
Het |
Arl6ip1 |
G |
A |
7: 117,721,208 (GRCm39) |
R77C |
probably damaging |
Het |
Atp8b1 |
A |
G |
18: 64,666,730 (GRCm39) |
C1156R |
possibly damaging |
Het |
Atp8b3 |
A |
C |
10: 80,372,156 (GRCm39) |
N24K |
probably damaging |
Het |
Bdh1 |
T |
C |
16: 31,273,954 (GRCm39) |
V209A |
possibly damaging |
Het |
Blm |
A |
T |
7: 80,113,596 (GRCm39) |
C1234S |
probably damaging |
Het |
Caml |
A |
G |
13: 55,779,740 (GRCm39) |
D271G |
possibly damaging |
Het |
Capn11 |
T |
C |
17: 45,944,006 (GRCm39) |
D545G |
probably benign |
Het |
Catspere1 |
T |
C |
1: 177,765,304 (GRCm39) |
|
noncoding transcript |
Het |
Cep128 |
T |
C |
12: 91,200,969 (GRCm39) |
E347G |
probably damaging |
Het |
Cngb3 |
A |
G |
4: 19,415,713 (GRCm39) |
T408A |
possibly damaging |
Het |
Coa8 |
A |
G |
12: 111,679,823 (GRCm39) |
T33A |
possibly damaging |
Het |
Cog1 |
G |
A |
11: 113,548,253 (GRCm39) |
R18Q |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,259,671 (GRCm39) |
F1338L |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,059,369 (GRCm39) |
H2122R |
probably benign |
Het |
Ctu2 |
T |
G |
8: 123,207,851 (GRCm39) |
S26A |
probably benign |
Het |
Dbf4 |
G |
A |
5: 8,453,062 (GRCm39) |
|
probably benign |
Het |
Ddx23 |
A |
T |
15: 98,545,116 (GRCm39) |
D663E |
probably benign |
Het |
Dpep2 |
T |
C |
8: 106,717,388 (GRCm39) |
T123A |
possibly damaging |
Het |
Eed |
A |
G |
7: 89,613,976 (GRCm39) |
I274T |
probably damaging |
Het |
Eif3b |
A |
G |
5: 140,405,255 (GRCm39) |
D47G |
probably benign |
Het |
Epas1 |
T |
C |
17: 87,113,186 (GRCm39) |
V124A |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,449,798 (GRCm39) |
L668P |
probably damaging |
Het |
Fnip2 |
C |
A |
3: 79,373,028 (GRCm39) |
E1017* |
probably null |
Het |
Gm43517 |
A |
T |
12: 49,436,690 (GRCm39) |
|
probably benign |
Het |
Got1 |
A |
G |
19: 43,491,345 (GRCm39) |
|
probably null |
Het |
H2-Eb2 |
T |
A |
17: 34,553,375 (GRCm39) |
V187E |
probably damaging |
Het |
H2-Q1 |
T |
C |
17: 35,540,242 (GRCm39) |
|
probably benign |
Het |
Hpgd |
T |
C |
8: 56,751,454 (GRCm39) |
V94A |
probably damaging |
Het |
Htra1 |
T |
A |
7: 130,586,756 (GRCm39) |
N446K |
probably benign |
Het |
Igkv3-4 |
T |
A |
6: 70,649,269 (GRCm39) |
S89R |
probably damaging |
Het |
Immt |
C |
T |
6: 71,829,720 (GRCm39) |
T142I |
probably damaging |
Het |
Itpkb |
C |
A |
1: 180,245,759 (GRCm39) |
P759T |
probably damaging |
Het |
Jmjd1c |
G |
A |
10: 67,060,571 (GRCm39) |
V688I |
possibly damaging |
Het |
Kbtbd13 |
G |
T |
9: 65,298,025 (GRCm39) |
R304S |
probably benign |
Het |
Lama5 |
A |
C |
2: 179,827,734 (GRCm39) |
L2176R |
probably damaging |
Het |
Lrp1b |
G |
C |
2: 40,551,544 (GRCm39) |
L418V |
probably null |
Het |
Lrrc4b |
C |
A |
7: 44,111,796 (GRCm39) |
|
probably null |
Het |
Lyst |
A |
G |
13: 13,915,182 (GRCm39) |
N3292S |
probably damaging |
Het |
Mep1b |
A |
T |
18: 21,219,241 (GRCm39) |
I132F |
probably benign |
Het |
Mettl2 |
A |
G |
11: 105,017,436 (GRCm39) |
|
probably null |
Het |
Nherf2 |
T |
C |
17: 24,863,873 (GRCm39) |
M1V |
probably null |
Het |
Niban1 |
A |
T |
1: 151,591,445 (GRCm39) |
D529V |
probably damaging |
Het |
Nmd3 |
T |
C |
3: 69,652,569 (GRCm39) |
L385S |
probably benign |
Het |
Nol4 |
T |
C |
18: 23,045,683 (GRCm39) |
E243G |
probably damaging |
Het |
Odad1 |
T |
A |
7: 45,597,804 (GRCm39) |
S571R |
probably damaging |
Het |
Or4l1 |
T |
A |
14: 50,166,726 (GRCm39) |
I92F |
probably damaging |
Het |
Or51k1 |
A |
G |
7: 103,661,795 (GRCm39) |
I38T |
probably benign |
Het |
Or5j3 |
A |
T |
2: 86,129,042 (GRCm39) |
N294I |
possibly damaging |
Het |
Or8b52 |
A |
G |
9: 38,576,519 (GRCm39) |
I207T |
probably benign |
Het |
Pcnp |
A |
G |
16: 55,837,522 (GRCm39) |
|
probably benign |
Het |
Pla2g6 |
A |
C |
15: 79,171,818 (GRCm39) |
C680G |
probably damaging |
Het |
Plekha7 |
G |
T |
7: 115,744,178 (GRCm39) |
D661E |
probably damaging |
Het |
Prim1 |
A |
T |
10: 127,862,887 (GRCm39) |
|
probably benign |
Het |
Psg29 |
T |
A |
7: 16,944,460 (GRCm39) |
N323K |
probably benign |
Het |
Ptrh2 |
G |
A |
11: 86,580,833 (GRCm39) |
R150H |
probably damaging |
Het |
Rasa1 |
A |
G |
13: 85,398,621 (GRCm39) |
|
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,627,501 (GRCm39) |
D667G |
probably benign |
Het |
Rnase2a |
T |
C |
14: 51,493,201 (GRCm39) |
N55D |
probably damaging |
Het |
Rsf1 |
GCGGCGGCGGCGGCGGCGGC |
GCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,123 (GRCm39) |
|
probably benign |
Het |
Sbp |
T |
A |
17: 24,164,218 (GRCm39) |
N133K |
probably damaging |
Het |
Scml4 |
A |
G |
10: 42,833,743 (GRCm39) |
|
probably benign |
Het |
Sema5b |
T |
A |
16: 35,483,552 (GRCm39) |
N1063K |
probably damaging |
Het |
Serpind1 |
C |
T |
16: 17,154,272 (GRCm39) |
T33M |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sorcs3 |
A |
G |
19: 48,782,602 (GRCm39) |
D1039G |
probably benign |
Het |
Spon1 |
A |
G |
7: 113,639,102 (GRCm39) |
E776G |
probably damaging |
Het |
Tdp1 |
C |
T |
12: 99,868,623 (GRCm39) |
A259V |
possibly damaging |
Het |
Tex46 |
C |
A |
4: 136,337,991 (GRCm39) |
P61Q |
probably benign |
Het |
Tnr |
T |
A |
1: 159,724,636 (GRCm39) |
L1109Q |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tpra1 |
G |
A |
6: 88,887,661 (GRCm39) |
|
probably benign |
Het |
Trim43c |
A |
T |
9: 88,729,705 (GRCm39) |
H383L |
possibly damaging |
Het |
Trip6 |
A |
G |
5: 137,308,433 (GRCm39) |
C439R |
probably damaging |
Het |
Tsen2 |
C |
T |
6: 115,552,894 (GRCm39) |
S398L |
possibly damaging |
Het |
Tubgcp2 |
T |
C |
7: 139,576,074 (GRCm39) |
D863G |
probably damaging |
Het |
Ube2d2a |
A |
G |
18: 35,903,498 (GRCm39) |
|
probably benign |
Het |
Umad1 |
T |
A |
6: 8,427,181 (GRCm39) |
F145I |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,534,278 (GRCm39) |
E933V |
probably damaging |
Het |
Vmn1r208 |
A |
G |
13: 22,956,646 (GRCm39) |
F284L |
probably benign |
Het |
Vmn2r53 |
T |
A |
7: 12,334,692 (GRCm39) |
R323* |
probably null |
Het |
Zan |
G |
A |
5: 137,387,281 (GRCm39) |
T4924I |
unknown |
Het |
Zfp597 |
G |
T |
16: 3,683,851 (GRCm39) |
Q302K |
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 |
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'- ACAGTGAGCGTGTGAGGTTC -3'
(R):5'- TGTATTTGTGTAGCCAGCATGC -3'
Sequencing Primer
(F):5'- CGTGTGAGGTTCCTGAGGC -3'
(R):5'- GTGTAGCCAGCATGCCTCATTTAC -3'
|
Posted On |
2015-12-29 |