Incidental Mutation 'R9413:Pglyrp3'
ID |
711892 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pglyrp3
|
Ensembl Gene |
ENSMUSG00000042244 |
Gene Name |
peptidoglycan recognition protein 3 |
Synonyms |
LOC242100 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R9413 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
91921890-91938889 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 91930106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 91
(A91S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047660]
|
AlphaFold |
A1A547 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047660
AA Change: A91S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000035737 Gene: ENSMUSG00000042244 AA Change: A91S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (35/36) |
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 |
Abca16 |
A |
T |
7: 120,126,422 (GRCm39) |
T1194S |
probably benign |
Het |
Akr7a5 |
A |
T |
4: 139,038,059 (GRCm39) |
|
probably benign |
Het |
Ap3b2 |
G |
T |
7: 81,127,757 (GRCm39) |
P140T |
possibly damaging |
Het |
Ap3s1 |
T |
C |
18: 46,887,531 (GRCm39) |
|
probably null |
Het |
Arrdc2 |
C |
T |
8: 71,288,892 (GRCm39) |
R381H |
probably damaging |
Het |
Atg13 |
T |
C |
2: 91,511,970 (GRCm39) |
D286G |
probably benign |
Het |
C1qtnf4 |
T |
C |
2: 90,720,648 (GRCm39) |
F307S |
probably damaging |
Het |
Cdk5rap1 |
A |
T |
2: 154,207,880 (GRCm39) |
|
probably null |
Het |
Chsy3 |
C |
T |
18: 59,309,170 (GRCm39) |
A141V |
possibly damaging |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
D5Ertd579e |
A |
G |
5: 36,772,278 (GRCm39) |
S706P |
probably damaging |
Het |
Ell2 |
A |
G |
13: 75,917,705 (GRCm39) |
D545G |
|
Het |
Ephb6 |
T |
C |
6: 41,591,509 (GRCm39) |
L222P |
|
Het |
Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
Gm6619 |
A |
T |
6: 131,468,370 (GRCm39) |
D167V |
unknown |
Het |
Gucy2c |
T |
C |
6: 136,700,771 (GRCm39) |
D581G |
possibly damaging |
Het |
Hectd1 |
G |
A |
12: 51,792,880 (GRCm39) |
R2471* |
probably null |
Het |
Kif1a |
A |
T |
1: 92,949,019 (GRCm39) |
M1501K |
probably benign |
Het |
Mycbpap |
A |
G |
11: 94,392,321 (GRCm39) |
V390A |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Pex3 |
A |
G |
10: 13,410,454 (GRCm39) |
Y236H |
probably damaging |
Het |
Ppp1ca |
T |
C |
19: 4,244,897 (GRCm39) |
S292P |
probably damaging |
Het |
Prkci |
T |
C |
3: 31,097,915 (GRCm39) |
V455A |
probably damaging |
Het |
Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
Psd4 |
C |
T |
2: 24,287,472 (GRCm39) |
T468I |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,357,059 (GRCm39) |
E4203G |
|
Het |
Snrnp27 |
T |
C |
6: 86,653,255 (GRCm39) |
D121G |
possibly damaging |
Het |
Spag6 |
A |
T |
2: 18,739,029 (GRCm39) |
M320L |
probably benign |
Het |
Spata16 |
T |
A |
3: 26,978,486 (GRCm39) |
M484K |
possibly damaging |
Het |
Trim69 |
G |
A |
2: 122,009,083 (GRCm39) |
W381* |
probably null |
Het |
Tubgcp3 |
A |
C |
8: 12,674,885 (GRCm39) |
I745S |
probably damaging |
Het |
Ubxn2b |
A |
G |
4: 6,204,607 (GRCm39) |
D156G |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,032,158 (GRCm39) |
N644S |
possibly 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 |
|
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 |
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'- CCATAGTTTCCAGAAAAGAGTGGG -3'
(R):5'- TCATGCTAGGAGCTTGCAGG -3'
Sequencing Primer
(F):5'- GGAGCAAGTTCACTTACCTGCAG -3'
(R):5'- CTTCAGTCATAAACTCAGCAC -3'
|
Posted On |
2022-05-16 |