Incidental Mutation 'IGL01892:Pglyrp4'
| ID |
179268 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pglyrp4
|
| Ensembl Gene |
ENSMUSG00000042250 |
| Gene Name |
peptidoglycan recognition protein 4 |
| Synonyms |
LOC384997, LOC242097 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01892
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
90634213-90648824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90646348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 293
(N293S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047745]
[ENSMUST00000169698]
|
| AlphaFold |
Q0VB07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047745
AA Change: N293S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000040755
Gene: ENSMUSG00000042250
AA Change: N293S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PGRP
|
55 |
196 |
1.5e-58 |
SMART |
|
Ami_2
|
66 |
213 |
1.14e-7 |
SMART |
|
PGRP
|
212 |
353 |
2.13e-72 |
SMART |
|
Ami_2
|
222 |
359 |
1.62e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156268
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169698
AA Change: N294S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128113
Gene: ENSMUSG00000042250
AA Change: N294S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PGRP
|
55 |
196 |
1.5e-58 |
SMART |
|
Ami_2
|
66 |
200 |
2.12e-7 |
SMART |
|
PGRP
|
213 |
354 |
2.13e-72 |
SMART |
|
Ami_2
|
223 |
360 |
1.62e-21 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Summary: This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls. This antimicrobial protein binds to murein peptidoglycans of Gram-positive bacteria. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to DSS-induced colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cplane1 |
A |
T |
15: 8,271,749 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
T |
A |
19: 39,722,788 (GRCm39) |
E253D |
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,309,381 (GRCm39) |
D164G |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Lct |
G |
T |
1: 128,235,342 (GRCm39) |
T555N |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,386,587 (GRCm39) |
H655Q |
possibly damaging |
Het |
| Or52a24 |
A |
T |
7: 103,381,687 (GRCm39) |
M185L |
possibly damaging |
Het |
| Or8b57 |
C |
A |
9: 40,004,114 (GRCm39) |
L45F |
probably damaging |
Het |
| Pofut2 |
C |
A |
10: 77,101,717 (GRCm39) |
D251E |
probably benign |
Het |
| Prdm2 |
T |
C |
4: 142,860,974 (GRCm39) |
E772G |
probably damaging |
Het |
| Prkd3 |
A |
T |
17: 79,279,930 (GRCm39) |
D254E |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Pwp2 |
T |
C |
10: 78,014,841 (GRCm39) |
Y381C |
probably damaging |
Het |
| Rasgrp1 |
G |
A |
2: 117,124,323 (GRCm39) |
T293M |
probably damaging |
Het |
| Snd1 |
G |
A |
6: 28,888,123 (GRCm39) |
|
probably null |
Het |
| Suclg2 |
A |
T |
6: 95,556,169 (GRCm39) |
D237E |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,729,431 (GRCm39) |
N1509S |
probably benign |
Het |
| Thbd |
A |
T |
2: 148,248,988 (GRCm39) |
H293Q |
possibly damaging |
Het |
| Tie1 |
T |
A |
4: 118,333,115 (GRCm39) |
Y871F |
probably benign |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,360 (GRCm39) |
V252D |
probably benign |
Het |
| Vmn1r60 |
C |
A |
7: 5,547,309 (GRCm39) |
V264F |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,334 (GRCm39) |
T255A |
possibly damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,718,690 (GRCm39) |
V458E |
probably benign |
Het |
| Vmn2r9 |
A |
T |
5: 108,995,700 (GRCm39) |
V316D |
probably damaging |
Het |
| Wfdc15b |
A |
T |
2: 164,057,388 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Pglyrp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Pglyrp4
|
APN |
3 |
90,646,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00575:Pglyrp4
|
APN |
3 |
90,638,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02097:Pglyrp4
|
APN |
3 |
90,642,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02159:Pglyrp4
|
APN |
3 |
90,638,160 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02398:Pglyrp4
|
APN |
3 |
90,646,424 (GRCm39) |
splice site |
probably benign |
|
|
IGL02565:Pglyrp4
|
APN |
3 |
90,642,794 (GRCm39) |
missense |
probably benign |
|
|
IGL02619:Pglyrp4
|
APN |
3 |
90,642,955 (GRCm39) |
splice site |
probably null |
|
|
R1160:Pglyrp4
|
UTSW |
3 |
90,636,138 (GRCm39) |
splice site |
probably null |
|
|
R1420:Pglyrp4
|
UTSW |
3 |
90,636,021 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1828:Pglyrp4
|
UTSW |
3 |
90,640,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Pglyrp4
|
UTSW |
3 |
90,640,314 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5268:Pglyrp4
|
UTSW |
3 |
90,634,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Pglyrp4
|
UTSW |
3 |
90,647,581 (GRCm39) |
splice site |
probably null |
|
|
R7286:Pglyrp4
|
UTSW |
3 |
90,640,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Pglyrp4
|
UTSW |
3 |
90,640,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Pglyrp4
|
UTSW |
3 |
90,647,707 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9132:Pglyrp4
|
UTSW |
3 |
90,635,238 (GRCm39) |
nonsense |
probably null |
|
|
R9607:Pglyrp4
|
UTSW |
3 |
90,638,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pglyrp4
|
UTSW |
3 |
90,646,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation