Incidental Mutation 'R3697:Pglyrp3'
| ID |
269847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pglyrp3
|
| Ensembl Gene |
ENSMUSG00000042244 |
| Gene Name |
peptidoglycan recognition protein 3 |
| Synonyms |
LOC242100 |
| MMRRC Submission |
040691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R3697 (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 A
at 91935481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 244
(C244S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047660]
|
| AlphaFold |
A1A547 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047660
AA Change: C244S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035737
Gene: ENSMUSG00000042244
AA Change: C244S
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,521 (GRCm39) |
D259G |
unknown |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,366,157 (GRCm39) |
D805G |
probably benign |
Het |
| Cnmd |
C |
A |
14: 79,875,421 (GRCm39) |
R333L |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,518,958 (GRCm39) |
I79N |
unknown |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| Ermard |
T |
C |
17: 15,273,638 (GRCm39) |
S408P |
probably benign |
Het |
| Gls |
C |
T |
1: 52,238,923 (GRCm39) |
M364I |
possibly damaging |
Het |
| Gm16380 |
A |
G |
9: 53,791,736 (GRCm39) |
|
noncoding transcript |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,953,551 (GRCm39) |
T233A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lemd3 |
CCCTCCTCCTCCTCCTCCTCC |
CCCTCCTCCTCCTCCTCC |
10: 120,814,432 (GRCm39) |
|
probably benign |
Het |
| Miga1 |
T |
C |
3: 152,028,073 (GRCm39) |
N152S |
probably damaging |
Het |
| Nckipsd |
G |
A |
9: 108,688,320 (GRCm39) |
G83S |
probably damaging |
Het |
| Nedd4 |
T |
C |
9: 72,647,469 (GRCm39) |
F728L |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Nop56 |
C |
A |
2: 130,119,507 (GRCm39) |
N57K |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,165,646 (GRCm39) |
N197S |
probably benign |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Rtp3 |
T |
A |
9: 110,816,262 (GRCm39) |
R96S |
possibly damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,534,876 (GRCm39) |
K316* |
probably null |
Het |
| Sp6 |
C |
A |
11: 96,912,580 (GRCm39) |
P98T |
possibly damaging |
Het |
| Vmn1r15 |
A |
T |
6: 57,235,321 (GRCm39) |
D63V |
possibly damaging |
Het |
| Vmn1r216 |
G |
A |
13: 23,283,849 (GRCm39) |
W177* |
probably null |
Het |
| Zfp414 |
CAAACTCTTCCGA |
CAAACTCTTCCGAAACTCTTCCGA |
17: 33,849,551 (GRCm39) |
|
probably null |
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 |
|
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'- ATCACACCACGGTCTGCTTG -3'
(R):5'- AAGGCATCATACTTCTTTGGGG -3'
Sequencing Primer
(F):5'- ACCACGGTCTGCTTGGGAAG -3'
(R):5'- GTGATGTTCCCAATCACAATGGAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation