Incidental Mutation 'IGL03279:Pglyrp3'
ID |
415518 |
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 # |
IGL03279
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
91921890-91938889 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91933834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 160
(Y160H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047660]
|
AlphaFold |
A1A547 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047660
AA Change: Y160H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035737 Gene: ENSMUSG00000042244 AA Change: Y160H
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
A |
11: 119,904,504 (GRCm39) |
D224V |
probably damaging |
Het |
Abca4 |
C |
A |
3: 121,935,381 (GRCm39) |
N1526K |
probably benign |
Het |
Aif1 |
T |
A |
17: 35,390,523 (GRCm39) |
K76* |
probably null |
Het |
Arap2 |
A |
G |
5: 62,779,253 (GRCm39) |
S1446P |
probably damaging |
Het |
Cyb5rl |
A |
T |
4: 106,941,325 (GRCm39) |
E250V |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,788,447 (GRCm39) |
|
probably benign |
Het |
Dppa2 |
A |
G |
16: 48,132,028 (GRCm39) |
T42A |
possibly damaging |
Het |
Drosha |
C |
T |
15: 12,859,478 (GRCm39) |
P562L |
probably benign |
Het |
Egfl7 |
C |
A |
2: 26,480,719 (GRCm39) |
H126N |
probably benign |
Het |
Gm5852 |
T |
C |
3: 93,634,584 (GRCm39) |
|
noncoding transcript |
Het |
Gpr161 |
T |
C |
1: 165,138,098 (GRCm39) |
F228S |
probably damaging |
Het |
Grid1 |
T |
A |
14: 34,667,722 (GRCm39) |
M83K |
probably damaging |
Het |
Gsdma2 |
T |
C |
11: 98,548,549 (GRCm39) |
S434P |
unknown |
Het |
Hao2 |
T |
A |
3: 98,787,712 (GRCm39) |
N239I |
possibly damaging |
Het |
Hsd17b14 |
A |
T |
7: 45,215,617 (GRCm39) |
I206F |
possibly damaging |
Het |
Kansl1l |
A |
T |
1: 66,774,825 (GRCm39) |
V667E |
probably damaging |
Het |
Kdm3a |
T |
C |
6: 71,588,659 (GRCm39) |
D450G |
probably benign |
Het |
Lmo7 |
C |
A |
14: 102,137,944 (GRCm39) |
A882E |
probably benign |
Het |
P4ha3 |
A |
G |
7: 99,949,893 (GRCm39) |
Y254C |
probably damaging |
Het |
Pcdh15 |
A |
G |
10: 74,152,904 (GRCm39) |
Y408C |
probably damaging |
Het |
Pnma5 |
G |
A |
X: 72,079,605 (GRCm39) |
T359I |
probably benign |
Het |
Ptbp3 |
A |
T |
4: 59,476,937 (GRCm39) |
H440Q |
possibly damaging |
Het |
Rbx1 |
A |
G |
15: 81,352,399 (GRCm39) |
N41S |
probably damaging |
Het |
Rpl3 |
G |
A |
15: 79,962,560 (GRCm39) |
T340I |
probably benign |
Het |
Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
Sema6a |
A |
T |
18: 47,433,157 (GRCm39) |
C91* |
probably null |
Het |
Slco6d1 |
T |
A |
1: 98,394,405 (GRCm39) |
V363E |
probably damaging |
Het |
Stk38 |
A |
G |
17: 29,203,179 (GRCm39) |
|
probably benign |
Het |
Tanc2 |
G |
A |
11: 105,803,918 (GRCm39) |
|
probably null |
Het |
Thada |
A |
G |
17: 84,742,988 (GRCm39) |
F812S |
probably benign |
Het |
Tubb4b-ps1 |
A |
G |
5: 7,229,630 (GRCm39) |
|
probably benign |
Het |
Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
Vps52 |
T |
A |
17: 34,176,848 (GRCm39) |
D67E |
probably damaging |
Het |
|
Other mutations in Pglyrp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00335:Pglyrp3
|
APN |
3 |
91,929,986 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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 |
2016-08-02 |