Incidental Mutation 'IGL01540:Pycard'
ID 90129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pycard
Ensembl Gene ENSMUSG00000030793
Gene Name PYD and CARD domain containing
Synonyms TMS-1, 9130417A21Rik, Asc
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # IGL01540
Quality Score
Status
Chromosome 7
Chromosomal Location 127590545-127593039 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127592002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 113 (D113V)
Ref Sequence ENSEMBL: ENSMUSP00000146211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033056] [ENSMUST00000205594]
AlphaFold Q9EPB4
Predicted Effect probably benign
Transcript: ENSMUST00000033056
AA Change: D155V

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000033056
Gene: ENSMUSG00000030793
AA Change: D155V

DomainStartEndE-ValueType
PYRIN 4 87 3.64e-28 SMART
low complexity region 94 107 N/A INTRINSIC
Pfam:CARD 110 193 1.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205594
AA Change: D113V

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205745
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in interleukin production and secretion as well as increased resistance lethal effects of lipopolysaccharide. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,151,252 (GRCm39) probably null Het
Ceacam12 T C 7: 17,805,727 (GRCm39) probably benign Het
Cyp2j13 A T 4: 95,956,959 (GRCm39) probably benign Het
Golim4 T G 3: 75,794,047 (GRCm39) E538A possibly damaging Het
Gstcd A T 3: 132,692,175 (GRCm39) V580D probably damaging Het
Hspg2 A G 4: 137,247,017 (GRCm39) T1115A probably damaging Het
Maea T C 5: 33,515,910 (GRCm39) S18P probably benign Het
Mertk T C 2: 128,625,887 (GRCm39) L674P probably damaging Het
Nol8 A T 13: 49,815,146 (GRCm39) Q400L probably benign Het
Nt5el T C 13: 105,218,761 (GRCm39) S32P possibly damaging Het
Or10a3b G T 7: 108,444,887 (GRCm39) T110N probably damaging Het
Or6b2 A G 1: 92,408,202 (GRCm39) L47P probably damaging Het
S100z G A 13: 95,613,861 (GRCm39) T83M probably damaging Het
Sacs A G 14: 61,429,084 (GRCm39) D381G possibly damaging Het
Spata31h1 A T 10: 82,120,016 (GRCm39) H4331Q possibly damaging Het
Tbpl2 T C 2: 23,984,985 (GRCm39) H53R probably benign Het
Tlr6 T C 5: 65,112,629 (GRCm39) R93G probably damaging Het
Trabd A G 15: 88,968,998 (GRCm39) E172G probably benign Het
Vrk3 A G 7: 44,416,568 (GRCm39) H277R probably damaging Het
Zfp512 T C 5: 31,630,840 (GRCm39) V338A probably damaging Het
Other mutations in Pycard
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Pycard APN 7 127,592,674 (GRCm39) missense probably damaging 1.00
R1624:Pycard UTSW 7 127,591,970 (GRCm39) missense possibly damaging 0.88
R2520:Pycard UTSW 7 127,592,677 (GRCm39) missense possibly damaging 0.87
R6647:Pycard UTSW 7 127,592,741 (GRCm39) missense probably benign 0.38
R7534:Pycard UTSW 7 127,592,657 (GRCm39) missense probably damaging 0.99
R8262:Pycard UTSW 7 127,592,797 (GRCm39) missense possibly damaging 0.74
R9616:Pycard UTSW 7 127,592,776 (GRCm39) missense probably benign 0.02
Posted On 2013-12-03