Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Pglyrp4'

279628

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pglyrp4

Ensembl Gene

ENSMUSG00000042250

Gene Name

peptidoglycan recognition protein 4

Synonyms

LOC384997, LOC242097

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

90634213-90648824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90642910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 263 (F263L)

Ref Sequence

ENSEMBL: ENSMUSP00000040755 (fasta)

Gene Model

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

AlphaFold

Q0VB07

Predicted Effect

probably benign
Transcript: ENSMUST00000047745
AA Change: F263L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000040755
Gene: ENSMUSG00000042250
AA Change: F263L

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

noncoding transcript
Transcript: ENSMUST00000156268

Predicted Effect

probably benign
Transcript: ENSMUST00000169698
AA Change: F264L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128113
Gene: ENSMUSG00000042250
AA Change: F264L

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 105,109,052 (GRCm39)	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,262,118 (GRCm39)	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,092,468 (GRCm39)	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,884,813 (GRCm39)	T788I	probably benign	Het
Asic1	T	C	15: 99,592,567 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,870,199 (GRCm39)	M68K	probably benign	Het
Cdhr5	G	T	7: 140,849,894 (GRCm39)	T637K	probably damaging	Het
Corin	A	T	5: 72,529,489 (GRCm39)	C289S	probably damaging	Het
Cpne4	T	C	9: 104,563,701 (GRCm39)	V26A	probably damaging	Het
Csmd1	T	C	8: 16,261,773 (GRCm39)	D908G	probably null	Het
Cyp2c29	A	G	19: 39,296,064 (GRCm39)	D126G	probably damaging	Het
Ddx42	G	A	11: 106,129,986 (GRCm39)	S426N	probably benign	Het
Dnah1	C	T	14: 31,026,958 (GRCm39)	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,006,715 (GRCm39)	T246A	probably damaging	Het
Fbn1	A	T	2: 125,205,889 (GRCm39)	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527 (GRCm39)	N536S	probably benign	Het
Gnal	G	A	18: 67,350,279 (GRCm39)		probably benign	Het
Gns	A	G	10: 121,226,598 (GRCm39)	T416A	probably benign	Het
Heatr5b	G	A	17: 79,124,943 (GRCm39)	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,527,548 (GRCm39)		probably benign	Het
Krt23	C	T	11: 99,383,836 (GRCm39)	G19R	probably benign	Het
Lama2	C	T	10: 27,014,956 (GRCm39)	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,815,772 (GRCm39)	V11M	probably damaging	Het
Man1a2	T	C	3: 100,489,447 (GRCm39)	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,239,204 (GRCm39)	V241F	possibly damaging	Het
Myh3	A	G	11: 66,973,750 (GRCm39)	D141G	probably benign	Het
Mylk2	G	A	2: 152,757,056 (GRCm39)	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,069,173 (GRCm39)	T471S	probably damaging	Het
Naip1	A	G	13: 100,562,096 (GRCm39)	V1023A	probably benign	Het
Olfm5	T	A	7: 103,803,438 (GRCm39)	T342S	probably benign	Het
Or10g1	A	G	14: 52,647,511 (GRCm39)	F273L	probably benign	Het
Or2f1b	T	A	6: 42,739,394 (GRCm39)	M136K	probably damaging	Het
Plekhh2	A	T	17: 84,906,608 (GRCm39)	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,081,513 (GRCm39)		probably benign	Het
Rbm28	G	T	6: 29,138,617 (GRCm39)	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,130,524 (GRCm39)	F234L	probably benign	Het
Sele	T	C	1: 163,880,662 (GRCm39)	S415P	probably benign	Het
Shpk	T	C	11: 73,094,821 (GRCm39)	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,543,703 (GRCm39)	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,489,684 (GRCm39)	P120S	possibly damaging	Het
Slc8a2	A	G	7: 15,891,081 (GRCm39)	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,885,765 (GRCm39)	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,093,650 (GRCm39)	D739A	probably damaging	Het
Thg1l	A	G	11: 45,841,055 (GRCm39)	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,530,475 (GRCm39)	V540M	probably damaging	Het
Wdr48	A	G	9: 119,753,329 (GRCm39)	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,433,371 (GRCm39)	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,300,351 (GRCm39)	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,223,643 (GRCm39)	Y133*	probably null	Het

Other mutations in Pglyrp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Pglyrp4	APN	3	90,646,335 (GRCm39)	missense	probably damaging	1.00
IGL00575:Pglyrp4	APN	3	90,638,098 (GRCm39)	missense	probably damaging	1.00
IGL01892:Pglyrp4	APN	3	90,646,348 (GRCm39)	missense	probably benign	0.00
IGL02159:Pglyrp4	APN	3	90,638,160 (GRCm39)	missense	possibly damaging	0.87
IGL02398:Pglyrp4	APN	3	90,646,424 (GRCm39)	splice site	probably benign
IGL02565:Pglyrp4	APN	3	90,642,794 (GRCm39)	missense	probably benign
IGL02619:Pglyrp4	APN	3	90,642,955 (GRCm39)	splice site	probably null
R1160:Pglyrp4	UTSW	3	90,636,138 (GRCm39)	splice site	probably null
R1420:Pglyrp4	UTSW	3	90,636,021 (GRCm39)	missense	probably damaging	0.96
R1828:Pglyrp4	UTSW	3	90,640,310 (GRCm39)	missense	probably damaging	1.00
R4974:Pglyrp4	UTSW	3	90,640,314 (GRCm39)	missense	probably benign	0.04
R5268:Pglyrp4	UTSW	3	90,634,271 (GRCm39)	missense	probably damaging	1.00
R5704:Pglyrp4	UTSW	3	90,647,581 (GRCm39)	splice site	probably null
R7286:Pglyrp4	UTSW	3	90,640,281 (GRCm39)	missense	probably damaging	1.00
R7787:Pglyrp4	UTSW	3	90,640,295 (GRCm39)	missense	probably damaging	1.00
R8772:Pglyrp4	UTSW	3	90,647,707 (GRCm39)	missense	possibly damaging	0.54
R9132:Pglyrp4	UTSW	3	90,635,238 (GRCm39)	nonsense	probably null
R9607:Pglyrp4	UTSW	3	90,638,151 (GRCm39)	missense	probably damaging	1.00
Z1176:Pglyrp4	UTSW	3	90,646,312 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16