Incidental Mutation 'R2520:Pycard'
ID 254362
Institutional Source Beutler Lab
Gene Symbol Pycard
Ensembl Gene ENSMUSG00000030793
Gene Name PYD and CARD domain containing
Synonyms TMS-1, 9130417A21Rik, Asc
MMRRC Submission 040424-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R2520 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127590545-127593039 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127592677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 50 (I50T)
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: I50T

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033056
Gene: ENSMUSG00000030793
AA Change: I50T

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 possibly damaging
Transcript: ENSMUST00000205594
AA Change: I8T

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205745
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A T 5: 3,625,773 (GRCm39) N70I probably damaging Het
4930503B20Rik G A 3: 146,356,261 (GRCm39) R216W probably damaging Het
Abcb9 C T 5: 124,218,091 (GRCm39) probably null Het
Arhgdia A T 11: 120,470,852 (GRCm39) V72E probably damaging Het
Arsb A T 13: 94,077,207 (GRCm39) K525* probably null Het
Bckdha A C 7: 25,341,124 (GRCm39) I79S probably benign Het
Carm1 G A 9: 21,494,893 (GRCm39) probably null Het
Cers5 G A 15: 99,634,262 (GRCm39) T362I probably damaging Het
Clec4b2 T A 6: 123,177,942 (GRCm39) F86I probably damaging Het
Crispld1 G A 1: 17,821,000 (GRCm39) D347N probably damaging Het
Csf3r A T 4: 125,929,145 (GRCm39) T352S probably benign Het
Daam2 G A 17: 49,787,785 (GRCm39) Q443* probably null Het
Dcbld1 A G 10: 52,195,641 (GRCm39) D283G probably damaging Het
Dpp9 T C 17: 56,513,868 (GRCm39) E82G probably damaging Het
Dync1li1 A G 9: 114,518,074 (GRCm39) D42G probably null Het
Eml6 T C 11: 29,741,993 (GRCm39) H1130R probably damaging Het
Enox1 A T 14: 77,819,839 (GRCm39) Y198F probably damaging Het
Epop A G 11: 97,519,554 (GRCm39) L185P probably benign Het
Frem1 A T 4: 82,868,527 (GRCm39) C1485S probably damaging Het
Gbf1 T A 19: 46,253,806 (GRCm39) S571T probably benign Het
Gm5965 A T 16: 88,575,414 (GRCm39) I196F probably null Het
Gm8237 T A 14: 5,863,642 (GRCm38) I8L possibly damaging Het
Gria2 A C 3: 80,614,269 (GRCm39) N590K probably damaging Het
Hectd2 T A 19: 36,589,633 (GRCm39) probably null Het
Hmcn1 T A 1: 150,619,398 (GRCm39) T1239S possibly damaging Het
Hps3 A T 3: 20,083,194 (GRCm39) D167E probably damaging Het
Htr1a A G 13: 105,581,881 (GRCm39) S374G probably benign Het
Il16 C T 7: 83,301,202 (GRCm39) G307S probably benign Het
Ipmk T C 10: 71,217,047 (GRCm39) F198S probably damaging Het
Lyz2 T A 10: 117,114,558 (GRCm39) I124F probably damaging Het
Maea T C 5: 33,515,854 (GRCm39) V47A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrgpra1 A T 7: 46,985,020 (GRCm39) C220S possibly damaging Het
Myo5c A T 9: 75,204,931 (GRCm39) K1595* probably null Het
Naga G T 15: 82,214,295 (GRCm39) D405E probably benign Het
Nanog T A 6: 122,690,418 (GRCm39) N249K probably benign Het
Nhlh1 G T 1: 171,881,570 (GRCm39) R99S probably damaging Het
Ntrk2 T A 13: 59,202,090 (GRCm39) probably null Het
Nudt2 A G 4: 41,480,354 (GRCm39) E79G probably benign Het
Or2ad1 A T 13: 21,326,746 (GRCm39) C160* probably null Het
Or4f60 A T 2: 111,902,013 (GRCm39) M305K probably benign Het
Or52n2 T A 7: 104,542,080 (GRCm39) I252F probably benign Het
Pitpnm2 T C 5: 124,267,464 (GRCm39) D592G probably damaging Het
Prps1l3 T C 12: 57,285,369 (GRCm39) V53A probably damaging Het
Psmd2 T G 16: 20,481,826 (GRCm39) V853G probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf168 T A 16: 32,097,221 (GRCm39) S99T probably benign Het
Rph3al A G 11: 75,797,373 (GRCm39) S108P possibly damaging Het
Sdk1 G A 5: 142,071,526 (GRCm39) A979T probably benign Het
Sec16a G A 2: 26,331,368 (GRCm39) Q216* probably null Het
Slc35f3 T A 8: 127,121,312 (GRCm39) V391E possibly damaging Het
Slf1 T A 13: 77,199,384 (GRCm39) I666F probably damaging Het
Slfn14 A G 11: 83,167,013 (GRCm39) V834A probably damaging Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tbc1d10b A G 7: 126,799,455 (GRCm39) probably null Het
Tmeff1 T A 4: 48,604,679 (GRCm39) C91S probably damaging Het
Tmem108 G T 9: 103,366,481 (GRCm39) N503K possibly damaging Het
Trbv28 A G 6: 41,248,541 (GRCm39) T24A probably damaging Het
Trim34b A G 7: 103,980,446 (GRCm39) E178G probably damaging Het
Trmt1l T A 1: 151,329,696 (GRCm39) H546Q probably benign Het
Ttc39d A G 17: 80,523,799 (GRCm39) I153V probably benign Het
Ttll13 T C 7: 79,899,964 (GRCm39) V101A probably damaging Het
Ubash3b A T 9: 40,926,243 (GRCm39) H501Q probably damaging Het
Upf3a T A 8: 13,846,443 (GRCm39) probably null Het
Usp48 A G 4: 137,352,562 (GRCm39) S94G probably benign Het
Wdr86 T C 5: 24,917,573 (GRCm39) *381W probably null Het
Wdr90 G A 17: 26,074,326 (GRCm39) P680S probably damaging Het
Zbtb22 G A 17: 34,135,956 (GRCm39) V34M probably damaging Het
Zbtb8a A G 4: 129,253,689 (GRCm39) probably null Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp512b A G 2: 181,231,295 (GRCm39) V295A probably damaging Het
Zfp608 A T 18: 55,121,578 (GRCm39) V3E possibly damaging Het
Zfp748 G T 13: 67,694,781 (GRCm39) D32E possibly 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
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
Predicted Primers PCR Primer
(F):5'- TTGGCTATGGCAGGAGGAAC -3'
(R):5'- AGCTGACTTCCTGGTCTTGG -3'

Sequencing Primer
(F):5'- CAGGAGGAACAGTTAAGCGCC -3'
(R):5'- TAAAAGGTGACCGCGGCTG -3'
Posted On 2014-12-04