Incidental Mutation 'R8262:Pycard'
ID 639859
Institutional Source Beutler Lab
Gene Symbol Pycard
Ensembl Gene ENSMUSG00000030793
Gene Name PYD and CARD domain containing
Synonyms TMS-1, 9130417A21Rik, Asc
MMRRC Submission 067687-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R8262 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 127590545-127593039 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127592797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 10 (D10G)
Ref Sequence ENSEMBL: ENSMUSP00000033056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033056] [ENSMUST00000205594]
AlphaFold Q9EPB4
Predicted Effect possibly damaging
Transcript: ENSMUST00000033056
AA Change: D10G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033056
Gene: ENSMUSG00000030793
AA Change: D10G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency 98% (58/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,107,709 (GRCm39) D358G possibly damaging Het
Adam26a A T 8: 44,022,178 (GRCm39) C437* probably null Het
Arhgap10 A T 8: 78,037,468 (GRCm39) C587S probably benign Het
Bank1 G A 3: 135,948,721 (GRCm39) T285I probably benign Het
Bhlha15 C T 5: 144,128,257 (GRCm39) S123L probably damaging Het
Cacul1 T C 19: 60,517,475 (GRCm39) *305W probably null Het
Cep112 A C 11: 108,393,977 (GRCm39) K365T probably damaging Het
Chrm1 T A 19: 8,656,453 (GRCm39) L386Q probably damaging Het
Cnbp C A 6: 87,822,194 (GRCm39) R110L probably damaging Het
Cntnap5a A T 1: 116,116,140 (GRCm39) I541F possibly damaging Het
Dscaml1 T G 9: 45,658,438 (GRCm39) probably benign Het
Enpp3 C T 10: 24,653,824 (GRCm39) S711N probably damaging Het
Eps8 G T 6: 137,459,252 (GRCm39) N750K probably benign Het
Fan1 G T 7: 64,023,054 (GRCm39) N66K probably benign Het
Fbf1 G A 11: 116,044,845 (GRCm39) T323I probably benign Het
Flg2 A T 3: 93,127,517 (GRCm39) N2143I unknown Het
Fn3k A C 11: 121,339,744 (GRCm39) T169P probably benign Het
Fubp1 T G 3: 151,926,356 (GRCm39) I320R probably damaging Het
Gfpt2 A T 11: 49,714,607 (GRCm39) E335D probably benign Het
Gm17472 T C 6: 42,957,968 (GRCm39) I79T probably benign Het
Gpr151 C A 18: 42,711,437 (GRCm39) E414* probably null Het
Gpr179 G A 11: 97,226,983 (GRCm39) S1724L probably benign Het
Gtf2h3 C A 5: 124,728,967 (GRCm39) Y175* probably null Het
Hal T A 10: 93,328,369 (GRCm39) I215N probably damaging Het
Htt A G 5: 35,053,304 (GRCm39) T2546A probably benign Het
Ighv1-11 T C 12: 114,576,077 (GRCm39) Y46C probably damaging Het
Lcn4 T C 2: 26,558,375 (GRCm39) D170G probably benign Het
Lrch1 T A 14: 75,055,935 (GRCm39) D306V probably damaging Het
Mtcl1 A C 17: 66,650,653 (GRCm39) V1604G probably damaging Het
Or10g3b T C 14: 52,586,625 (GRCm39) N293D probably damaging Het
Or3a10 A G 11: 73,935,926 (GRCm39) L58P probably damaging Het
Or4c108 T G 2: 88,803,552 (GRCm39) S228R probably damaging Het
Or4k49 T G 2: 111,494,587 (GRCm39) N5K possibly damaging Het
Or9i1b G A 19: 13,897,226 (GRCm39) V281I probably benign Het
Ormdl2 A G 10: 128,654,837 (GRCm39) L125P possibly damaging Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Pde3a T A 6: 141,433,527 (GRCm39) F803Y possibly damaging Het
Pnpla7 C T 2: 24,873,635 (GRCm39) R214W probably damaging Het
Prtg T C 9: 72,813,520 (GRCm39) V960A probably benign Het
Ptgdr T C 14: 45,090,858 (GRCm39) E300G probably benign Het
Ptpru G T 4: 131,522,274 (GRCm39) Y710* probably null Het
Pxdn T A 12: 30,049,195 (GRCm39) Y620* probably null Het
Sh3d21 G T 4: 126,055,775 (GRCm39) Q160K probably benign Het
Slc26a7 G A 4: 14,621,269 (GRCm39) P39L probably benign Het
Snrnp200 T A 2: 127,068,928 (GRCm39) Y936N probably damaging Het
Sox8 T C 17: 25,786,617 (GRCm39) D362G possibly damaging Het
Tcp11 T G 17: 28,286,001 (GRCm39) N538T probably damaging Het
Tent2 T C 13: 93,310,997 (GRCm39) probably benign Het
Tmem132e A C 11: 82,325,666 (GRCm39) E222A probably benign Het
Trpc7 T C 13: 56,937,602 (GRCm39) E618G probably benign Het
Tsc2 G T 17: 24,833,340 (GRCm39) Q695K probably benign Het
Txlnb C A 10: 17,718,752 (GRCm39) L528M possibly damaging Het
Vmn1r176 A G 7: 23,534,878 (GRCm39) Y92H probably benign Het
Vmn2r85 T A 10: 130,254,738 (GRCm39) I649F probably damaging Het
Vwa8 T C 14: 79,171,272 (GRCm39) probably null Het
Wrn A T 8: 33,814,274 (GRCm39) I390N probably benign Het
Zfp493 T A 13: 67,934,976 (GRCm39) C310S probably damaging Het
Other mutations in Pycard
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Pycard APN 7 127,592,674 (GRCm39) missense probably damaging 1.00
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
R9616:Pycard UTSW 7 127,592,776 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGTGAGCTCCAAGCCATACG -3'
(R):5'- AAGTCTTAGGGGCGGAAACC -3'

Sequencing Primer
(F):5'- GCCATACGACTCCAGATAGTAGCTG -3'
(R):5'- CGGAAACCAAAACTAGTTTGCTG -3'
Posted On 2020-07-28