Incidental Mutation 'IGL01949:Pglyrp2'
| ID |
181022 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pglyrp2
|
| Ensembl Gene |
ENSMUSG00000079563 |
| Gene Name |
peptidoglycan recognition protein 2 |
| Synonyms |
tagL-alpha, C730002N09Rik, Pglyrpl, tagl-beta, tagL, PGRP-L |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
32631433-32643141 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 32635080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114455]
[ENSMUST00000170392]
|
| AlphaFold |
Q8VCS0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000114455
|
| SMART Domains |
Protein: ENSMUSP00000110099
Gene: ENSMUSG00000079563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
|
PGRP
|
360 |
506 |
6.61e-78 |
SMART |
|
Ami_2
|
373 |
512 |
6.28e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170392
|
| SMART Domains |
Protein: ENSMUSP00000129964
Gene: ENSMUSG00000079563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
|
PGRP
|
360 |
506 |
6.61e-78 |
SMART |
|
Ami_2
|
373 |
512 |
6.28e-10 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino acid residues in bacterial cell wall glycopeptides, and thus may play a scavenger role by digesting biologically active peptidoglycan into biologically inactive fragments. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for disruption of this gene are viable and fertile with no gross developmental defects. Mice homozygous for a different knock-out allele are resistant to peptidoglycan- or muramyl dipeptide-induced arthritis and increased susceptibility to DSS-induced colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
A |
15: 94,223,987 (GRCm39) |
R1247L |
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,872,723 (GRCm39) |
M757K |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,525,904 (GRCm39) |
I182T |
probably damaging |
Het |
| Fuca1 |
T |
A |
4: 135,650,420 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hap1 |
G |
T |
11: 100,239,588 (GRCm39) |
D610E |
probably damaging |
Het |
| Hoxa6 |
T |
A |
6: 52,183,511 (GRCm39) |
Y178F |
possibly damaging |
Het |
| Ighmbp2 |
A |
C |
19: 3,315,538 (GRCm39) |
D627E |
probably benign |
Het |
| Itgae |
T |
C |
11: 73,009,010 (GRCm39) |
I497T |
probably benign |
Het |
| Katnip |
G |
A |
7: 125,361,014 (GRCm39) |
W108* |
probably null |
Het |
| Kbtbd3 |
A |
G |
9: 4,331,066 (GRCm39) |
D480G |
possibly damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,586 (GRCm39) |
|
probably null |
Het |
| Krt5 |
T |
A |
15: 101,619,048 (GRCm39) |
M278L |
probably benign |
Het |
| Krtap4-9 |
G |
A |
11: 99,676,391 (GRCm39) |
|
probably benign |
Het |
| Myl12a |
T |
C |
17: 71,303,709 (GRCm39) |
D56G |
probably benign |
Het |
| Or2g25 |
T |
C |
17: 37,970,357 (GRCm39) |
Y289C |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,331,326 (GRCm39) |
H310Q |
probably damaging |
Het |
| Polk |
C |
T |
13: 96,620,046 (GRCm39) |
S718N |
probably benign |
Het |
| Ppip5k1 |
T |
A |
2: 121,168,341 (GRCm39) |
H687L |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,309 (GRCm39) |
Q292L |
probably damaging |
Het |
| Prodh2 |
A |
G |
7: 30,209,190 (GRCm39) |
|
probably null |
Het |
| Rgs9 |
A |
T |
11: 109,150,660 (GRCm39) |
|
probably null |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stk-ps2 |
A |
G |
1: 46,069,148 (GRCm39) |
|
noncoding transcript |
Het |
| Svep1 |
C |
T |
4: 58,176,006 (GRCm39) |
G298R |
probably damaging |
Het |
| Troap |
T |
C |
15: 98,979,102 (GRCm39) |
S341P |
probably benign |
Het |
| Ugt3a1 |
T |
C |
15: 9,335,815 (GRCm39) |
F12S |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp236 |
G |
T |
18: 82,642,521 (GRCm39) |
T1123K |
probably damaging |
Het |
|
| Other mutations in Pglyrp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01935:Pglyrp2
|
APN |
17 |
32,637,551 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02355:Pglyrp2
|
APN |
17 |
32,635,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Pglyrp2
|
APN |
17 |
32,635,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02601:Pglyrp2
|
APN |
17 |
32,634,835 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02965:Pglyrp2
|
APN |
17 |
32,637,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0324:Pglyrp2
|
UTSW |
17 |
32,637,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0386:Pglyrp2
|
UTSW |
17 |
32,639,836 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
R2158:Pglyrp2
|
UTSW |
17 |
32,637,222 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2181:Pglyrp2
|
UTSW |
17 |
32,637,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Pglyrp2
|
UTSW |
17 |
32,634,931 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2313:Pglyrp2
|
UTSW |
17 |
32,637,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Pglyrp2
|
UTSW |
17 |
32,637,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4852:Pglyrp2
|
UTSW |
17 |
32,634,823 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4888:Pglyrp2
|
UTSW |
17 |
32,637,771 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6941:Pglyrp2
|
UTSW |
17 |
32,635,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Pglyrp2
|
UTSW |
17 |
32,634,904 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7327:Pglyrp2
|
UTSW |
17 |
32,634,893 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7886:Pglyrp2
|
UTSW |
17 |
32,637,735 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8179:Pglyrp2
|
UTSW |
17 |
32,635,003 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8734:Pglyrp2
|
UTSW |
17 |
32,634,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation