Incidental Mutation 'R2313:Pglyrp2'
| ID |
245389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pglyrp2
|
| Ensembl Gene |
ENSMUSG00000079563 |
| Gene Name |
peptidoglycan recognition protein 2 |
| Synonyms |
tagL-alpha, C730002N09Rik, Pglyrpl, tagl-beta, tagL, PGRP-L |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
32631433-32643141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32637673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 118
(D118E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114455]
[ENSMUST00000170392]
|
| AlphaFold |
Q8VCS0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114455
AA Change: D118E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110099
Gene: ENSMUSG00000079563
AA Change: D118E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
|
PGRP
|
360 |
506 |
6.61e-78 |
SMART |
|
Ami_2
|
373 |
512 |
6.28e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170392
AA Change: D118E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129964
Gene: ENSMUSG00000079563
AA Change: D118E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
|
PGRP
|
360 |
506 |
6.61e-78 |
SMART |
|
Ami_2
|
373 |
512 |
6.28e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.1%
|
| 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. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino acid residues in bacterial cell wall glycopeptides, and thus may play a scavenger role by digesting biologically active peptidoglycan into biologically inactive fragments. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for disruption of this gene are viable and fertile with no gross developmental defects. Mice homozygous for a different knock-out allele are resistant to peptidoglycan- or muramyl dipeptide-induced arthritis and increased susceptibility to DSS-induced colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
A |
6: 116,390,822 (GRCm39) |
D443V |
probably benign |
Het |
| Ankrd53 |
A |
T |
6: 83,740,662 (GRCm39) |
H95L |
probably damaging |
Het |
| Chrnb3 |
A |
G |
8: 27,883,809 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cln5 |
C |
T |
14: 103,309,182 (GRCm39) |
R79* |
probably null |
Het |
| Cntn3 |
C |
A |
6: 102,180,889 (GRCm39) |
V769L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Il1r1 |
T |
C |
1: 40,352,470 (GRCm39) |
S550P |
probably benign |
Het |
| Klra7 |
T |
A |
6: 130,205,505 (GRCm39) |
T132S |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,782,045 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq3 |
A |
T |
3: 154,869,660 (GRCm39) |
R328S |
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,898 (GRCm39) |
E318G |
possibly damaging |
Het |
| Or4c122 |
C |
A |
2: 89,079,285 (GRCm39) |
C239F |
probably damaging |
Het |
| Or4n4 |
G |
A |
14: 50,519,431 (GRCm39) |
S93F |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,386,629 (GRCm39) |
S153P |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,027 (GRCm39) |
S1642G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Unc13d |
A |
G |
11: 115,954,560 (GRCm39) |
F1016S |
probably damaging |
Het |
| Vwa8 |
C |
G |
14: 79,149,658 (GRCm39) |
T140S |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,037,150 (GRCm39) |
F2046L |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,312 (GRCm39) |
H316R |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,420,266 (GRCm39) |
I228F |
probably damaging |
Het |
|
| Other mutations in Pglyrp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01935:Pglyrp2
|
APN |
17 |
32,637,551 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01949:Pglyrp2
|
APN |
17 |
32,635,080 (GRCm39) |
splice site |
probably null |
|
|
IGL02355:Pglyrp2
|
APN |
17 |
32,635,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Pglyrp2
|
APN |
17 |
32,635,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02601:Pglyrp2
|
APN |
17 |
32,634,835 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02965:Pglyrp2
|
APN |
17 |
32,637,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0324:Pglyrp2
|
UTSW |
17 |
32,637,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0386:Pglyrp2
|
UTSW |
17 |
32,639,836 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
R2158:Pglyrp2
|
UTSW |
17 |
32,637,222 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2181:Pglyrp2
|
UTSW |
17 |
32,637,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Pglyrp2
|
UTSW |
17 |
32,634,931 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4825:Pglyrp2
|
UTSW |
17 |
32,637,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4852:Pglyrp2
|
UTSW |
17 |
32,634,823 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4888:Pglyrp2
|
UTSW |
17 |
32,637,771 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6941:Pglyrp2
|
UTSW |
17 |
32,635,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Pglyrp2
|
UTSW |
17 |
32,634,904 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7327:Pglyrp2
|
UTSW |
17 |
32,634,893 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7886:Pglyrp2
|
UTSW |
17 |
32,637,735 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8179:Pglyrp2
|
UTSW |
17 |
32,635,003 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8734:Pglyrp2
|
UTSW |
17 |
32,634,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAAAGTGGCTCCAACATCTG -3'
(R):5'- CCTCTGCATGGATTCTGTCAG -3'
Sequencing Primer
(F):5'- CAACATCTGGAGAAGAGGCATTTG -3'
(R):5'- TGGATTCTGTCAGCCAAGAACTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation