Incidental Mutation 'IGL00335:Pglyrp3'
| ID |
6832 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pglyrp3
|
| Ensembl Gene |
ENSMUSG00000042244 |
| Gene Name |
peptidoglycan recognition protein 3 |
| Synonyms |
LOC242100 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL00335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
91921890-91938889 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91929986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 51
(V51I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047660]
|
| AlphaFold |
A1A547 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047660
AA Change: V51I
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035737
Gene: ENSMUSG00000042244
AA Change: V51I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
PGRP
|
28 |
169 |
2.64e-45 |
SMART |
|
Ami_2
|
39 |
169 |
1.06e-2 |
SMART |
|
PGRP
|
185 |
326 |
3.23e-72 |
SMART |
|
Ami_2
|
195 |
332 |
1.75e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118636
|
| 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. 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700048O20Rik |
C |
A |
9: 121,769,833 (GRCm39) |
|
noncoding transcript |
Het |
| 4930579F01Rik |
C |
A |
3: 137,891,959 (GRCm39) |
|
probably benign |
Het |
| Aurkc |
T |
A |
7: 6,999,547 (GRCm39) |
I18N |
probably damaging |
Het |
| Bace1 |
T |
C |
9: 45,750,588 (GRCm39) |
|
probably null |
Het |
| Chrne |
C |
T |
11: 70,506,588 (GRCm39) |
V311I |
probably benign |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Cyp2c70 |
C |
T |
19: 40,156,020 (GRCm39) |
V177M |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,801,328 (GRCm39) |
E365G |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 27,785,560 (GRCm39) |
N332K |
possibly damaging |
Het |
| Irx4 |
T |
C |
13: 73,416,810 (GRCm39) |
V402A |
probably benign |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,582,645 (GRCm39) |
|
probably benign |
Het |
| Lhfpl7 |
A |
G |
5: 113,383,869 (GRCm39) |
R96G |
probably benign |
Het |
| Lrrc8b |
T |
C |
5: 105,628,365 (GRCm39) |
I237T |
probably damaging |
Het |
| Mepe |
G |
T |
5: 104,485,843 (GRCm39) |
G328C |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,854,906 (GRCm39) |
I129T |
probably damaging |
Het |
| Or5h25 |
T |
C |
16: 58,930,961 (GRCm39) |
D4G |
probably benign |
Het |
| Or6c209 |
T |
C |
10: 129,483,306 (GRCm39) |
I103T |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,866,504 (GRCm39) |
D390G |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,121,279 (GRCm39) |
T470A |
probably damaging |
Het |
| Psmg1 |
G |
A |
16: 95,781,268 (GRCm39) |
T259I |
possibly damaging |
Het |
| Rtl3 |
T |
C |
X: 105,882,543 (GRCm39) |
T240A |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,824,385 (GRCm39) |
|
probably null |
Het |
| Slc10a6 |
A |
G |
5: 103,756,991 (GRCm39) |
S258P |
probably benign |
Het |
| Slc1a6 |
T |
C |
10: 78,637,647 (GRCm39) |
L391P |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,134,681 (GRCm39) |
V465M |
possibly damaging |
Het |
| Sost |
T |
C |
11: 101,857,705 (GRCm39) |
D32G |
probably damaging |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,282 (GRCm39) |
S54P |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,770,003 (GRCm39) |
S598T |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,809 (GRCm39) |
I890N |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,593 (GRCm39) |
D485G |
probably benign |
Het |
| Wee2 |
A |
T |
6: 40,438,995 (GRCm39) |
I373F |
probably damaging |
Het |
| Xkr6 |
A |
G |
14: 64,056,664 (GRCm39) |
T192A |
probably damaging |
Het |
| Zfp638 |
A |
G |
6: 83,956,700 (GRCm39) |
D1769G |
probably damaging |
Het |
|
| Other mutations in Pglyrp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00769:Pglyrp3
|
APN |
3 |
91,921,929 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02491:Pglyrp3
|
APN |
3 |
91,921,944 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03279:Pglyrp3
|
APN |
3 |
91,933,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0056:Pglyrp3
|
UTSW |
3 |
91,933,111 (GRCm39) |
splice site |
probably benign |
|
|
R1128:Pglyrp3
|
UTSW |
3 |
91,935,479 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2097:Pglyrp3
|
UTSW |
3 |
91,935,478 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2140:Pglyrp3
|
UTSW |
3 |
91,933,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3697:Pglyrp3
|
UTSW |
3 |
91,935,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4369:Pglyrp3
|
UTSW |
3 |
91,935,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4430:Pglyrp3
|
UTSW |
3 |
91,938,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4775:Pglyrp3
|
UTSW |
3 |
91,933,037 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6020:Pglyrp3
|
UTSW |
3 |
91,938,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:Pglyrp3
|
UTSW |
3 |
91,921,947 (GRCm39) |
nonsense |
probably null |
|
|
R7437:Pglyrp3
|
UTSW |
3 |
91,937,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8150:Pglyrp3
|
UTSW |
3 |
91,933,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8466:Pglyrp3
|
UTSW |
3 |
91,921,941 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8695:Pglyrp3
|
UTSW |
3 |
91,933,762 (GRCm39) |
missense |
probably null |
1.00 |
|
R9413:Pglyrp3
|
UTSW |
3 |
91,930,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Pglyrp3
|
UTSW |
3 |
91,935,310 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9592:Pglyrp3
|
UTSW |
3 |
91,938,859 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9722:Pglyrp3
|
UTSW |
3 |
91,938,695 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1176:Pglyrp3
|
UTSW |
3 |
91,935,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation