Incidental Mutation 'IGL00432:Pglyrp4'
| ID |
6833 |
| 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 # |
IGL00432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
90634213-90648824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 90646335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 290
(V290M)
|
| 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: V289M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040755
Gene: ENSMUSG00000042250
AA Change: V289M
| 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 damaging
Transcript: ENSMUST00000169698
AA Change: V290M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128113
Gene: ENSMUSG00000042250
AA Change: V290M
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
T |
1: 130,670,573 (GRCm39) |
Q265L |
possibly damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,187,232 (GRCm39) |
H168L |
probably damaging |
Het |
| Arid3b |
A |
G |
9: 57,741,207 (GRCm39) |
S80P |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd1 |
A |
C |
15: 88,614,361 (GRCm39) |
V178G |
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,333,397 (GRCm39) |
R26Q |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,825,527 (GRCm39) |
M358V |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,642,201 (GRCm39) |
D41G |
probably damaging |
Het |
| Erap1 |
T |
G |
13: 74,821,778 (GRCm39) |
V711G |
probably benign |
Het |
| Gchfr |
A |
G |
2: 119,000,229 (GRCm39) |
R37G |
probably damaging |
Het |
| Gm20518 |
T |
A |
16: 17,676,362 (GRCm39) |
N136I |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,754,124 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
A |
8: 111,327,884 (GRCm39) |
V4797E |
probably damaging |
Het |
| Iws1 |
C |
A |
18: 32,217,741 (GRCm39) |
N448K |
probably benign |
Het |
| Lin7c |
T |
C |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
| Lrrc40 |
T |
A |
3: 157,754,087 (GRCm39) |
L196Q |
probably damaging |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,321 (GRCm39) |
G327D |
probably benign |
Het |
| Masp1 |
C |
T |
16: 23,332,601 (GRCm39) |
C78Y |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,155,360 (GRCm39) |
R101W |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,492,566 (GRCm39) |
Y730H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,126,914 (GRCm39) |
|
probably benign |
Het |
| Plxna2 |
G |
A |
1: 194,326,404 (GRCm39) |
V113I |
probably benign |
Het |
| Prkch |
T |
A |
12: 73,749,363 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
T |
5: 130,237,565 (GRCm39) |
E213* |
probably null |
Het |
| Rdh16f2 |
T |
A |
10: 127,702,533 (GRCm39) |
C37S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,215,125 (GRCm39) |
Y1109H |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,572,326 (GRCm39) |
L215* |
probably null |
Het |
| Slc25a33 |
A |
T |
4: 149,829,376 (GRCm39) |
L261H |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,717,225 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
T |
C |
12: 73,398,577 (GRCm39) |
I369T |
probably benign |
Het |
| Tgm4 |
A |
T |
9: 122,891,447 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,688,815 (GRCm39) |
I426V |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,574 (GRCm39) |
I86V |
probably benign |
Het |
| Wwc1 |
G |
A |
11: 35,735,029 (GRCm39) |
P949S |
possibly damaging |
Het |
| Zfp326 |
A |
T |
5: 106,044,399 (GRCm39) |
I286F |
probably damaging |
Het |
|
| Other mutations in Pglyrp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00575:Pglyrp4
|
APN |
3 |
90,638,098 (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 |
2012-04-20 |
Incidental Mutation