Incidental Mutation 'R1420:Pglyrp4'
ID 160027
Institutional Source Beutler Lab
Gene Symbol Pglyrp4
Ensembl Gene ENSMUSG00000042250
Gene Name peptidoglycan recognition protein 4
Synonyms LOC384997, LOC242097
MMRRC Submission 039476-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1420 (G1)
Quality Score 220
Status Not validated
Chromosome 3
Chromosomal Location 90634213-90648824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90636021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 82 (V82A)
Ref Sequence ENSEMBL: ENSMUSP00000040755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047745] [ENSMUST00000169698]
AlphaFold Q0VB07
Predicted Effect probably damaging
Transcript: ENSMUST00000047745
AA Change: V82A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040755
Gene: ENSMUSG00000042250
AA Change: V82A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000169698
AA Change: V82A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128113
Gene: ENSMUSG00000042250
AA Change: V82A

DomainStartEndE-ValueType
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: 98.9%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.6%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 A G 10: 83,331,799 (GRCm39) Y669H probably damaging Het
Amotl2 A T 9: 102,601,982 (GRCm39) M409L possibly damaging Het
Ankrd35 A G 3: 96,592,054 (GRCm39) E780G probably benign Het
Brwd1 T C 16: 95,837,234 (GRCm39) Y866C probably damaging Het
Cul4b G C X: 37,653,918 (GRCm39) probably null Het
Daw1 A T 1: 83,137,548 (GRCm39) Y10F possibly damaging Het
Dgki A T 6: 37,027,204 (GRCm39) probably null Het
Dnah3 A T 7: 119,551,202 (GRCm39) V3039E probably damaging Het
Ercc4 C T 16: 12,948,073 (GRCm39) T340I probably benign Het
Fam83b T C 9: 76,399,894 (GRCm39) N403S possibly damaging Het
Fbh1 A G 2: 11,772,493 (GRCm39) F63L probably benign Het
Foxm1 G A 6: 128,349,884 (GRCm39) R395H possibly damaging Het
Gtpbp4 C T 13: 9,023,298 (GRCm39) A589T probably benign Het
Ifna7 C A 4: 88,734,906 (GRCm39) H148N probably damaging Het
Il23r T C 6: 67,463,181 (GRCm39) Y104C probably damaging Het
Il31ra A T 13: 112,668,286 (GRCm39) W347R probably damaging Het
Ints7 T G 1: 191,345,169 (GRCm39) F620V possibly damaging Het
Iqcd T C 5: 120,738,860 (GRCm39) L226P probably damaging Het
Jak3 G T 8: 72,134,182 (GRCm39) R428L possibly damaging Het
Kif28 C A 1: 179,529,962 (GRCm39) C733F probably damaging Het
Klkb1 C A 8: 45,729,183 (GRCm39) C347F probably damaging Het
Ksr2 A G 5: 117,552,904 (GRCm39) E4G probably benign Het
Lama1 T C 17: 68,097,942 (GRCm39) L1774P probably damaging Het
Lrriq3 A G 3: 154,893,349 (GRCm39) E350G probably benign Het
Nav3 G A 10: 109,659,115 (GRCm39) A834V probably benign Het
Ncoa6 G A 2: 155,263,073 (GRCm39) Q454* probably null Het
Nfatc2 C A 2: 168,346,585 (GRCm39) M836I probably benign Het
Nphp3 G T 9: 103,913,092 (GRCm39) probably null Het
Olfml2b C T 1: 170,496,596 (GRCm39) T409M probably benign Het
Oprk1 A G 1: 5,672,544 (GRCm39) K227R probably damaging Het
Or8g35 A T 9: 39,381,289 (GRCm39) H244Q probably damaging Het
Pate1 A T 9: 35,596,505 (GRCm39) W87R probably damaging Het
Pcnx4 T C 12: 72,602,760 (GRCm39) Y341H probably benign Het
Pde4c T A 8: 71,201,066 (GRCm39) H421Q probably damaging Het
Pnmt G T 11: 98,278,502 (GRCm39) R156L probably benign Het
Prdm9 C A 17: 15,764,638 (GRCm39) C714F probably damaging Het
Pwp1 T C 10: 85,712,402 (GRCm39) V80A probably damaging Het
Pxdn T C 12: 30,052,067 (GRCm39) L568P probably damaging Het
Rasgrp4 C A 7: 28,839,770 (GRCm39) Q161K probably damaging Het
Rnf138 A G 18: 21,159,159 (GRCm39) E193G probably damaging Het
Slc16a6 A G 11: 109,345,772 (GRCm39) V413A probably damaging Het
Slc7a15 T C 12: 8,584,442 (GRCm39) T363A probably benign Het
Sufu T C 19: 46,385,623 (GRCm39) S28P probably benign Het
Tex19.1 T C 11: 121,037,872 (GRCm39) S77P probably damaging Het
Tmc7 A T 7: 118,165,440 (GRCm39) Y91* probably null Het
Ttbk2 C G 2: 120,576,393 (GRCm39) R792S probably benign Het
Tyw1 T C 5: 130,303,586 (GRCm39) probably null Het
U2surp A G 9: 95,344,856 (GRCm39) S907P probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vps50 T A 6: 3,588,007 (GRCm39) L660* probably null Het
Wdr55 A G 18: 36,893,392 (GRCm39) E18G probably benign Het
Wipi1 A G 11: 109,469,198 (GRCm39) V331A probably benign Het
Other mutations in Pglyrp4
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02097:Pglyrp4 APN 3 90,642,910 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- GGAAGAGCAAAATGTCCAGACTCCC -3'
(R):5'- CCTTAGCAGAACAGCTCTGAGCAC -3'

Sequencing Primer
(F):5'- CCAGTTCAGCTACATTGGGG -3'
(R):5'- AGCTCTGAGCACATGACTG -3'
Posted On 2014-03-14