Mutagenetix > Incidental Mutations

Incidental Mutation 'R1160:Pglyrp4'

100296

Institutional Source

Beutler Lab

Gene Symbol

Pglyrp4

Ensembl Gene

ENSMUSG00000042250

Gene Name

peptidoglycan recognition protein 4

Synonyms

LOC384997, LOC242097

MMRRC Submission

039233-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90726906-90741517 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 90728831 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047745] [ENSMUST00000169698]

Predicted Effect

probably null
Transcript: ENSMUST00000047745

SMART Domains

Protein: ENSMUSP00000040755
Gene: ENSMUSG00000042250

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PGRP	55	196	1.5e-58	SMART
Ami_2	66	213	1.14e-7	SMART
PGRP	212	353	2.13e-72	SMART
Ami_2	222	359	1.62e-21	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000169698

SMART Domains

Protein: ENSMUSP00000128113
Gene: ENSMUSG00000042250

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PGRP	55	196	1.5e-58	SMART
Ami_2	66	200	2.12e-7	SMART
PGRP	213	354	2.13e-72	SMART
Ami_2	223	360	1.62e-21	SMART

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.7%
20x: 81.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Summary: 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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	C	A	3: 88,708,862	P452Q	probably damaging	Het
Agap1	G	T	1: 89,843,154	K622N	probably damaging	Het
Ap3b2	A	T	7: 81,466,169		probably null	Het
Arl5b	T	C	2: 15,069,837	V43A	probably benign	Het
Astn1	T	C	1: 158,600,365	V702A	possibly damaging	Het
Bach1	T	C	16: 87,715,434	V15A	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Ccar2	C	T	14: 70,139,769	V774M	probably benign	Het
Dcaf5	T	C	12: 80,340,215	D379G	possibly damaging	Het
Dcpp1	T	A	17: 23,881,431	I45K	possibly damaging	Het
Ddx17	T	A	15: 79,541,087	S128C	probably damaging	Het
Eml3	A	G	19: 8,933,250	N192S	probably benign	Het
Epha3	T	G	16: 63,773,068	D219A	probably damaging	Het
Fhod3	C	T	18: 24,985,236	A210V	probably damaging	Het
Klhl5	A	G	5: 65,141,340	N154S	probably benign	Het
Lrif1	A	G	3: 106,732,717	N373D	possibly damaging	Het
Map3k20	A	G	2: 72,441,520	N664S	probably benign	Het
Olfr625-ps1	A	G	7: 103,682,861	N38D	possibly damaging	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pole	A	G	5: 110,295,253	E349G	possibly damaging	Het
Ptprj	A	G	2: 90,444,524	Y1165H	probably damaging	Het
Rasd1	T	A	11: 59,964,721	I29F	possibly damaging	Het
Scamp3	T	C	3: 89,181,198	F237S	probably damaging	Het
Sccpdh	T	G	1: 179,684,210	D82E	probably benign	Het
Slc19a3	A	C	1: 83,022,692	H201Q	possibly damaging	Het
Slc5a4a	G	A	10: 76,178,161	A401T	possibly damaging	Het
Snupn	T	G	9: 56,957,105	C29W	probably benign	Het
Sorbs2	A	G	8: 45,770,576	Y222C	probably damaging	Het
Sox17	A	T	1: 4,491,852	V310E	probably damaging	Het
Srgap1	T	A	10: 121,855,477	Y284F	probably benign	Het
Srpk1	C	A	17: 28,599,774	V363F	probably benign	Het
Syt13	T	A	2: 92,943,042		probably null	Het
Taf2	A	G	15: 55,071,397	V45A	probably benign	Het
Tal1	A	T	4: 115,068,616	D294V	probably damaging	Het
Tbl2	A	G	5: 135,159,392	T347A	probably benign	Het
Tet3	A	G	6: 83,404,452	S110P	probably benign	Het
Tmem132a	A	G	19: 10,858,574	V864A	probably damaging	Het
Trak1	T	C	9: 121,392,007	I80T	probably benign	Het
Trappc6b	G	A	12: 59,050,278	T86I	probably damaging	Het
Usf3	T	A	16: 44,218,547	I1130N	probably damaging	Het
Xirp2	T	C	2: 67,509,887	V824A	possibly damaging	Het
Zfp810	T	C	9: 22,278,532	Y360C	possibly damaging	Het
Zmiz1	T	A	14: 25,654,512	V685E	probably damaging	Het
Zp2	A	T	7: 120,136,045	D368E	probably damaging	Het

Other mutations in Pglyrp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Pglyrp4	APN	3	90739028	missense	probably damaging	1.00
IGL00575:Pglyrp4	APN	3	90730791	missense	probably damaging	1.00
IGL01892:Pglyrp4	APN	3	90739041	missense	probably benign	0.00
IGL02097:Pglyrp4	APN	3	90735603	missense	probably benign	0.01
IGL02159:Pglyrp4	APN	3	90730853	missense	possibly damaging	0.87
IGL02398:Pglyrp4	APN	3	90739117	splice site	probably benign
IGL02565:Pglyrp4	APN	3	90735487	missense	probably benign
IGL02619:Pglyrp4	APN	3	90735648	splice site	probably null
R1420:Pglyrp4	UTSW	3	90728714	missense	probably damaging	0.96
R1828:Pglyrp4	UTSW	3	90733003	missense	probably damaging	1.00
R4974:Pglyrp4	UTSW	3	90733007	missense	probably benign	0.04
R5268:Pglyrp4	UTSW	3	90726964	missense	probably damaging	1.00
R5704:Pglyrp4	UTSW	3	90740274	splice site	probably null
R7286:Pglyrp4	UTSW	3	90732974	missense	probably damaging	1.00
R7787:Pglyrp4	UTSW	3	90732988	missense	probably damaging	1.00
Z1176:Pglyrp4	UTSW	3	90739005	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15