Incidental Mutation 'IGL00575:Pglyrp4'
| ID |
332678 |
| 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 # |
IGL00575
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
90634213-90648824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90638098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 137
(Q137H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047745]
[ENSMUST00000169698]
|
| AlphaFold |
Q0VB07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047745
AA Change: Q137H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040755
Gene: ENSMUSG00000042250
AA Change: Q137H
| 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 |
probably damaging
Transcript: ENSMUST00000169698
AA Change: Q137H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128113
Gene: ENSMUSG00000042250
AA Change: Q137H
| 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: 9 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Fabp9 |
A |
G |
3: 10,258,843 (GRCm39) |
V99A |
probably damaging |
Het |
| Gramd1b |
T |
A |
9: 40,238,707 (GRCm39) |
|
probably benign |
Het |
| Mrgpra9 |
A |
T |
7: 46,885,053 (GRCm39) |
F205I |
possibly damaging |
Het |
| Nav3 |
A |
T |
10: 109,600,626 (GRCm39) |
S1334T |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,722,013 (GRCm39) |
T1056S |
possibly damaging |
Het |
| Spata31e3 |
C |
A |
13: 50,400,752 (GRCm39) |
G525W |
probably damaging |
Het |
| Tubb2b |
A |
G |
13: 34,313,244 (GRCm39) |
Y51H |
probably damaging |
Het |
| Zfp112 |
A |
T |
7: 23,825,757 (GRCm39) |
Y573F |
probably damaging |
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 |
|
IGL01892:Pglyrp4
|
APN |
3 |
90,646,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-08-05 |
Incidental Mutation