Incidental Mutation 'R1128:Pglyrp3'
ID |
96381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pglyrp3
|
Ensembl Gene |
ENSMUSG00000042244 |
Gene Name |
peptidoglycan recognition protein 3 |
Synonyms |
LOC242100 |
MMRRC Submission |
039201-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R1128 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
91921890-91938889 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91935479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 243
(F243S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047660]
|
AlphaFold |
A1A547 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047660
AA Change: F243S
PolyPhen 2
Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000035737 Gene: ENSMUSG00000042244 AA Change: F243S
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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
Amhr2 |
A |
T |
15: 102,361,256 (GRCm39) |
Q402L |
probably benign |
Het |
Brip1 |
A |
T |
11: 85,955,763 (GRCm39) |
L917M |
possibly damaging |
Het |
Dennd5a |
G |
A |
7: 109,520,541 (GRCm39) |
R415* |
probably null |
Het |
Eif2ak1 |
G |
T |
5: 143,835,994 (GRCm39) |
|
probably null |
Het |
Golga4 |
G |
A |
9: 118,377,852 (GRCm39) |
A458T |
probably benign |
Het |
H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
Ift88 |
C |
T |
14: 57,754,476 (GRCm39) |
R762* |
probably null |
Het |
Kansl2 |
A |
T |
15: 98,431,566 (GRCm39) |
C28* |
probably null |
Het |
Lct |
T |
C |
1: 128,229,046 (GRCm39) |
R816G |
probably damaging |
Het |
Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,919,769 (GRCm39) |
N6809S |
probably null |
Het |
Pak6 |
A |
G |
2: 118,526,990 (GRCm39) |
T662A |
probably benign |
Het |
Rab44 |
T |
C |
17: 29,359,435 (GRCm39) |
V541A |
possibly damaging |
Het |
Slc39a6 |
G |
T |
18: 24,718,349 (GRCm39) |
H569Q |
probably damaging |
Het |
Slc4a7 |
T |
C |
14: 14,733,832 (GRCm38) |
S87P |
probably damaging |
Het |
Spocd1 |
T |
C |
4: 129,850,599 (GRCm39) |
V875A |
possibly damaging |
Het |
Tspan17 |
A |
G |
13: 54,942,984 (GRCm39) |
D146G |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAATATCACACCACGGTCTGCTTG -3'
(R):5'- AGGCATCATACTTCTTTGGGGTTCG -3'
Sequencing Primer
(F):5'- TCTGCTTGGGAAGCCAGAG -3'
(R):5'- GTGATGTTCCCAATCACAATGG -3'
|
Posted On |
2014-01-05 |