Incidental Mutation 'R6647:Pycard'
ID 526131
Institutional Source Beutler Lab
Gene Symbol Pycard
Ensembl Gene ENSMUSG00000030793
Gene Name PYD and CARD domain containing
Synonyms TMS-1, 9130417A21Rik, Asc
MMRRC Submission 044768-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R6647 (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 127592741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 29 (T29A)
Ref Sequence ENSEMBL: ENSMUSP00000033056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033056] [ENSMUST00000205594]
AlphaFold Q9EPB4
Predicted Effect probably benign
Transcript: ENSMUST00000033056
AA Change: T29A

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033056
Gene: ENSMUSG00000030793
AA Change: T29A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205745
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 98% (53/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T C 3: 116,544,060 (GRCm39) T1416A probably damaging Het
Atp7b A G 8: 22,518,494 (GRCm39) S103P probably damaging Het
Ces1h A C 8: 94,078,654 (GRCm39) *563G probably null Het
Cfap157 G T 2: 32,669,086 (GRCm39) A339E probably benign Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Cyp2b13 A G 7: 25,785,324 (GRCm39) H231R possibly damaging Het
Ddx31 A T 2: 28,765,750 (GRCm39) T483S probably damaging Het
Defa25 A T 8: 21,575,201 (GRCm39) D60V possibly damaging Het
Dnah5 G A 15: 28,403,633 (GRCm39) A3453T probably benign Het
Dnah6 A T 6: 73,115,743 (GRCm39) F1500I probably damaging Het
Eprs1 C T 1: 185,146,621 (GRCm39) A1217V probably damaging Het
Ermp1 T C 19: 29,604,335 (GRCm39) Y481C probably benign Het
Fmn2 T A 1: 174,420,670 (GRCm39) N635K unknown Het
Fras1 A G 5: 96,883,061 (GRCm39) D2531G probably damaging Het
Frat1 C T 19: 41,819,264 (GRCm39) Q220* probably null Het
Gcc2 T A 10: 58,123,103 (GRCm39) probably null Het
Gm3285 T C 10: 77,698,447 (GRCm39) probably benign Het
Gm9857 T C 3: 108,847,379 (GRCm39) probably benign Het
Grin2b C A 6: 135,710,108 (GRCm39) W1146L probably damaging Het
Hells T A 19: 38,919,948 (GRCm39) L33I probably benign Het
Ift81 T A 5: 122,748,229 (GRCm39) R54* probably null Het
Ints12 G A 3: 132,802,639 (GRCm39) R41Q possibly damaging Het
Katnal2 C T 18: 77,067,733 (GRCm39) E403K probably benign Het
Kcnk1 A G 8: 126,722,199 (GRCm39) M1V probably null Het
Kdm5a A G 6: 120,389,422 (GRCm39) T950A probably benign Het
Kdr G A 5: 76,113,549 (GRCm39) A773V probably damaging Het
Lats1 G C 10: 7,573,271 (GRCm39) M118I possibly damaging Het
Mug1 A G 6: 121,817,200 (GRCm39) I90V probably benign Het
Nid2 A G 14: 19,852,484 (GRCm39) D1064G probably benign Het
Nkx2-4 A T 2: 146,926,187 (GRCm39) I225N possibly damaging Het
Nlrp4e A G 7: 23,020,740 (GRCm39) D409G probably benign Het
Ogfod2 G C 5: 124,252,866 (GRCm39) R292P possibly damaging Het
Oprk1 C T 1: 5,672,507 (GRCm39) P215S probably damaging Het
Or5d36 A T 2: 87,901,053 (GRCm39) F224L probably benign Het
Or6c35 T A 10: 129,169,033 (GRCm39) C94* probably null Het
Or7g27 T A 9: 19,249,925 (GRCm39) H56Q possibly damaging Het
Or8g21 T C 9: 38,906,210 (GRCm39) I174V possibly damaging Het
Pcdhb16 A G 18: 37,612,225 (GRCm39) K395R possibly damaging Het
Ptprg C A 14: 11,962,714 (GRCm38) P171T probably damaging Het
Rap1gap2 G A 11: 74,298,754 (GRCm39) A452V probably benign Het
Rasgrf1 C G 9: 89,892,516 (GRCm39) T1072S probably benign Het
Rc3h2 G A 2: 37,272,956 (GRCm39) R707* probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Senp7 T C 16: 55,993,618 (GRCm39) I767T probably damaging Het
Setd7 A G 3: 51,450,183 (GRCm39) V81A probably benign Het
Shisal2a A G 4: 108,225,224 (GRCm39) S113P probably benign Het
Shkbp1 A G 7: 27,041,800 (GRCm39) S685P probably benign Het
Snrnp200 A G 2: 127,068,372 (GRCm39) E904G probably damaging Het
Spata22 T A 11: 73,245,526 (GRCm39) probably null Het
Spata31e2 T A 1: 26,721,659 (GRCm39) N1174Y probably damaging Het
Tas2r138 G T 6: 40,589,733 (GRCm39) T171K possibly damaging Het
Tor1aip1 T C 1: 155,893,999 (GRCm39) D77G possibly damaging Het
Vav3 A T 3: 109,434,732 (GRCm39) H421L probably benign Het
Vmn1r43 A G 6: 89,846,841 (GRCm39) L215P probably damaging Het
Vmn2r100 T A 17: 19,742,785 (GRCm39) S386R probably benign Het
Xpa T A 4: 46,183,089 (GRCm39) R233S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGTCGTTTGCAGCTGCTCAG -3'
(R):5'- AAGTCTTAGGGGCGGAAACC -3'

Sequencing Primer
(F):5'- TCAGCCAGCTCCTGTAAGC -3'
(R):5'- ATCGGCCTAAGCAGCTGACTTC -3'
Posted On 2018-06-22