Mutagenetix > Incidental Mutation

Incidental Mutation 'R4430:Pglyrp3'

328552

Institutional Source

Beutler Lab

Gene Symbol

Pglyrp3

Ensembl Gene

ENSMUSG00000042244

Gene Name

peptidoglycan recognition protein 3

Synonyms

LOC242100

MMRRC Submission

041700-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91921890-91938889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91938798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 324 (D324E)

Ref Sequence

ENSEMBL: ENSMUSP00000035737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047660]

AlphaFold

A1A547

Predicted Effect

probably damaging
Transcript: ENSMUST00000047660
AA Change: D324E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035737
Gene: ENSMUSG00000042244
AA Change: D324E

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,963,348 (GRCm39)	N926S	unknown	Het
Ahi1	T	A	10: 20,847,977 (GRCm39)	C462S	probably damaging	Het
Ahnak	A	G	19: 8,980,404 (GRCm39)	I563V	probably benign	Het
Ankrd55	G	A	13: 112,459,717 (GRCm39)		probably null	Het
Bag3	A	G	7: 128,125,647 (GRCm39)	D22G	probably damaging	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705 (GRCm39)	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,198,004 (GRCm39)	I166T	probably benign	Het
Dnah11	T	C	12: 117,946,746 (GRCm39)	I3113V	probably benign	Het
Gli2	T	C	1: 118,764,974 (GRCm39)	H1059R	probably benign	Het
Gm14412	C	A	2: 177,007,625 (GRCm39)	S90I	probably benign	Het
L1td1	A	G	4: 98,625,388 (GRCm39)	R528G	probably benign	Het
Mcm3	A	T	1: 20,882,217 (GRCm39)	L449*	probably null	Het
Mif4gd	T	C	11: 115,499,328 (GRCm39)	T185A	probably benign	Het
Mphosph9	T	C	5: 124,403,509 (GRCm39)	S840G	possibly damaging	Het
Nherf4	C	T	9: 44,161,041 (GRCm39)	S175N	probably benign	Het
Nim1k	C	A	13: 120,174,078 (GRCm39)	R272L	possibly damaging	Het
Or5b104	C	T	19: 13,072,452 (GRCm39)	V187I	probably benign	Het
Or6c213	T	A	10: 129,574,130 (GRCm39)	I219F	probably damaging	Het
Or8k32	A	G	2: 86,368,731 (GRCm39)	I176T	probably damaging	Het
Pax3	A	G	1: 78,171,961 (GRCm39)	V83A	probably damaging	Het
Pde3b	C	T	7: 114,133,905 (GRCm39)	P974S	probably damaging	Het
Pus7	A	G	5: 23,951,487 (GRCm39)	Y521H	probably benign	Het
Ryr2	A	G	13: 11,750,413 (GRCm39)	S1953P	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sox5	A	G	6: 143,987,000 (GRCm39)	I188T	possibly damaging	Het
Spata4	T	C	8: 55,054,878 (GRCm39)	I86T	probably benign	Het
Ssc5d	T	C	7: 4,946,663 (GRCm39)	S1006P	probably benign	Het
Stk10	T	C	11: 32,483,552 (GRCm39)	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 132,849,972 (GRCm39)	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,826,262 (GRCm39)	N412Y	probably damaging	Het
Tert	T	A	13: 73,775,594 (GRCm39)	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem201	A	C	4: 149,815,596 (GRCm39)	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473 (GRCm39)	N785I	possibly damaging	Het
Trhde	A	T	10: 114,339,028 (GRCm39)	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,401,951 (GRCm39)	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,614,817 (GRCm39)	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,519,449 (GRCm39)	M503K	probably benign	Het
Zfp54	T	G	17: 21,655,222 (GRCm39)	V572G	probably 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
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'- TGTCACTGCTGTAGCCAAGC -3'
(R):5'- GGAGACCTTGAAGGATATCCATAAG -3'

Sequencing Primer
(F):5'- TGTAGCCAAGCAGCTCTGAG -3'
(R):5'- AGAGTGACTAGGTGACACATTG -3'

Posted On

2015-07-21