Incidental Mutation 'IGL01352:Pycard'
ID 75405
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: 0.120) question?
Stock # IGL01352
Quality Score
Status
Chromosome 7
Chromosomal Location 127590545-127593039 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127592674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 9 (D9G)
Ref Sequence ENSEMBL: ENSMUSP00000146211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033056] [ENSMUST00000205594]
AlphaFold Q9EPB4
Predicted Effect probably damaging
Transcript: ENSMUST00000033056
AA Change: D51G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033056
Gene: ENSMUSG00000030793
AA Change: D51G

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 damaging
Transcript: ENSMUST00000205594
AA Change: D9G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,837,155 (GRCm39) I1169V probably benign Het
B3gnt5 T C 16: 19,587,963 (GRCm39) S61P probably damaging Het
Bambi G A 18: 3,512,071 (GRCm39) A152T probably damaging Het
Cacna1c G A 6: 118,633,518 (GRCm39) Q930* probably null Het
Ccdc178 A G 18: 22,152,031 (GRCm39) probably benign Het
Chit1 C T 1: 134,076,228 (GRCm39) T295M probably damaging Het
Cntnap5c C A 17: 58,600,896 (GRCm39) N746K probably benign Het
Cyfip2 A T 11: 46,156,823 (GRCm39) F422I probably benign Het
Dsg3 A G 18: 20,656,753 (GRCm39) M208V probably benign Het
Erich6 G A 3: 58,529,781 (GRCm39) probably null Het
Gbf1 A G 19: 46,253,654 (GRCm39) H574R probably damaging Het
Gm17654 T G 14: 43,813,331 (GRCm39) E186D probably damaging Het
Gm8165 T C 14: 43,913,573 (GRCm39) N97S unknown Het
Ilf3 C T 9: 21,303,618 (GRCm39) L160F possibly damaging Het
Krt84 T A 15: 101,437,209 (GRCm39) Q318L probably damaging Het
Lrp2 T A 2: 69,333,870 (GRCm39) H1457L possibly damaging Het
Lrrc37a T A 11: 103,390,181 (GRCm39) D1748V probably benign Het
Mybl1 T C 1: 9,741,904 (GRCm39) E676G probably damaging Het
Myo10 C A 15: 25,701,783 (GRCm39) R53S probably damaging Het
Myorg T A 4: 41,499,469 (GRCm39) R54* probably null Het
Nrap A G 19: 56,368,268 (GRCm39) S205P probably benign Het
Or4c52 A G 2: 89,846,063 (GRCm39) D263G probably damaging Het
Or52z1 A T 7: 103,437,285 (GRCm39) Y66* probably null Het
Or8b1b A G 9: 38,376,030 (GRCm39) N231S probably benign Het
Pkhd1 T A 1: 20,619,939 (GRCm39) M894L probably benign Het
Ptpn13 G A 5: 103,634,641 (GRCm39) probably null Het
Rbfox3 G A 11: 118,396,439 (GRCm39) probably benign Het
Rnf122 C T 8: 31,614,908 (GRCm39) R71* probably null Het
Scel T A 14: 103,770,774 (GRCm39) D69E possibly damaging Het
Spag6 T G 2: 18,715,284 (GRCm39) M21R possibly damaging Het
Stat5a A G 11: 100,771,898 (GRCm39) D650G probably damaging Het
Tars3 T C 7: 65,308,658 (GRCm39) I276T possibly damaging Het
Tnfaip2 G T 12: 111,412,053 (GRCm39) E151D probably damaging Het
Trio G A 15: 27,901,315 (GRCm39) T313I probably benign Het
Ubqln4 A C 3: 88,471,775 (GRCm39) M404L probably benign Het
Vps33b T A 7: 79,934,807 (GRCm39) probably null Het
Wdfy3 A T 5: 102,091,986 (GRCm39) V451D probably damaging Het
Zfp341 G T 2: 154,470,816 (GRCm39) A278S probably benign Het
Zp3r C T 1: 130,547,093 (GRCm39) A28T possibly damaging Het
Other mutations in Pycard
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01540:Pycard APN 7 127,592,002 (GRCm39) missense probably benign 0.16
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 2013-10-07