Mutagenetix > Incidental Mutations

Incidental Mutation 'R5953:Pglyrp1'

471003

Institutional Source

Beutler Lab

Gene Symbol

Pglyrp1

Ensembl Gene

ENSMUSG00000030413

Gene Name

peptidoglycan recognition protein 1

Synonyms

PGRP-S, Tnfsf3l, peptidoglycan recognition protein, Tag7, Tasg7

MMRRC Submission

043245-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5953 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18871331-18890459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18890313 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 174 (I174F)

Ref Sequence

ENSEMBL: ENSMUSP00000032573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032573] [ENSMUST00000098780] [ENSMUST00000133506] [ENSMUST00000135467]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032573
AA Change: I174F

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

SMART Domains

Protein: ENSMUSP00000032573
Gene: ENSMUSG00000030413
AA Change: I174F

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
PGRP	18	161	8.93e-75	SMART
Ami_2	29	167	5.11e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098780

SMART Domains

Protein: ENSMUSP00000096377
Gene: ENSMUSG00000074358

Domain	Start	End	E-Value	Type
coiled coil region	173	206	N/A	INTRINSIC
low complexity region	217	242	N/A	INTRINSIC
coiled coil region	243	280	N/A	INTRINSIC
low complexity region	290	332	N/A	INTRINSIC
low complexity region	350	383	N/A	INTRINSIC
low complexity region	400	447	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133506

SMART Domains

Protein: ENSMUSP00000123152
Gene: ENSMUSG00000074358

Domain	Start	End	E-Value	Type
low complexity region	28	57	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206481

Predicted Effect

probably benign
Transcript: ENSMUST00000206499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206595

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice show a defect in neutrophil killing and increased susceptibility to infection with non-pathogenic gram-positive bacteria or DSS-induced colitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,361,018	S675T	probably damaging	Het
Acvr2a	T	C	2: 48,890,404	L212P	probably damaging	Het
Adamts14	T	C	10: 61,207,446	T751A	probably damaging	Het
Adgrf2	T	C	17: 42,710,338	N532D	probably damaging	Het
Asns	T	C	6: 7,682,285	E220G	probably benign	Het
Cd209d	A	T	8: 3,877,979		probably null	Het
Cenpp	T	C	13: 49,652,685	D2G	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Clec4a3	G	T	6: 122,969,492	V232L	probably benign	Het
Cntln	C	T	4: 85,049,919	H792Y	possibly damaging	Het
Cobl	T	A	11: 12,256,220	T470S	probably benign	Het
Cym	T	A	3: 107,213,467	D274V	probably damaging	Het
Elac2	G	A	11: 64,999,223	C627Y	probably benign	Het
Emc7	T	A	2: 112,459,558	I111N	probably damaging	Het
Eya4	T	A	10: 23,151,973	Y310F	probably damaging	Het
Fam217b	C	T	2: 178,420,360	S39F	probably damaging	Het
Fam234b	G	T	6: 135,225,707	R353L	possibly damaging	Het
Focad	A	G	4: 88,229,335	I404V	probably benign	Het
Il1rl1	T	A	1: 40,442,673	D180E	probably benign	Het
Il2rb	A	T	15: 78,484,982	C256*	probably null	Het
Intu	A	C	3: 40,679,550	L404F	probably damaging	Het
Jmy	G	A	13: 93,499,116	T64M	possibly damaging	Het
Mpl	C	A	4: 118,454,510	S302I	possibly damaging	Het
Mpl	T	A	4: 118,454,511	S302C	probably damaging	Het
Muc2	G	T	7: 141,701,382	D241Y	probably damaging	Het
Nlrp3	C	T	11: 59,546,791	H99Y	probably benign	Het
Olfr1474	A	T	19: 13,471,368	I133F	possibly damaging	Het
Olfr812	C	G	10: 129,842,614	V143L	probably benign	Het
Pi4ka	A	T	16: 17,281,951	I1936N	probably damaging	Het
Plekhm3	C	T	1: 64,937,895	E139K	probably damaging	Het
Pomk	C	A	8: 25,983,048	L292F	probably damaging	Het
Ptpru	A	G	4: 131,776,837	I1103T	probably damaging	Het
Pygl	T	C	12: 70,219,627	D38G	probably damaging	Het
Rapsn	T	C	2: 91,041,963	V214A	probably benign	Het
S100a9	T	A	3: 90,692,927	K54M	probably damaging	Het
Sdk2	A	G	11: 113,793,744	Y1964H	probably damaging	Het
Slc17a5	T	C	9: 78,557,498	N331S	probably damaging	Het
Snx9	T	A	17: 5,908,402	C252S	probably damaging	Het
Snx9	G	T	17: 5,908,403	C252F	probably damaging	Het
Trem1	A	T	17: 48,237,192	M82L	probably benign	Het

Other mutations in Pglyrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0049:Pglyrp1	UTSW	7	18889388	missense	probably damaging	1.00
R0049:Pglyrp1	UTSW	7	18889388	missense	probably damaging	1.00
R0747:Pglyrp1	UTSW	7	18890275	missense	possibly damaging	0.52
R1687:Pglyrp1	UTSW	7	18884704	start gained	probably benign
R1900:Pglyrp1	UTSW	7	18890226	missense	probably damaging	1.00
R4696:Pglyrp1	UTSW	7	18884946	missense	probably benign	0.42
R4903:Pglyrp1	UTSW	7	18890203	missense	probably benign	0.01
R8178:Pglyrp1	UTSW	7	18884732	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATTGTGTGGACAGACCCAGC -3'
(R):5'- TTCCTGCACCAGTGAGGATG -3'

Sequencing Primer
(F):5'- CTGACATAGAGGGCAGTTTACC -3'
(R):5'- TGGCCCGAGATATGTGCAG -3'

Posted On

2017-03-31