Incidental Mutation 'IGL02179:Pdcd10'
ID 283252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd10
Ensembl Gene ENSMUSG00000027835
Gene Name programmed cell death 10
Synonyms 2410003B13Rik, Tfa15, TF-1 cell apoptosis related protein-15, CCM3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02179
Quality Score
Status
Chromosome 3
Chromosomal Location 75423797-75464159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75434922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 60 (D60G)
Ref Sequence ENSEMBL: ENSMUSP00000029424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029424] [ENSMUST00000161137] [ENSMUST00000162138]
AlphaFold Q8VE70
Predicted Effect probably damaging
Transcript: ENSMUST00000029424
AA Change: D60G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029424
Gene: ENSMUSG00000027835
AA Change: D60G

DomainStartEndE-ValueType
Pfam:DUF1241 1 99 1.7e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161137
AA Change: D123G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125752
Gene: ENSMUSG00000027835
AA Change: D123G

DomainStartEndE-ValueType
Pfam:DUF1241 14 161 1.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162138
SMART Domains Protein: ENSMUSP00000124421
Gene: ENSMUSG00000027835

DomainStartEndE-ValueType
Pfam:DUF1241 10 66 5.4e-21 PFAM
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 evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout is embryonic lethal due to impaired hematopoeisis, vasculogenesis, and abnormal heart morphology. Conditional knockout in myeloids increases degranulation of, and exocytosis by, neutrophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 C A 2: 31,682,261 (GRCm39) A385D probably damaging Het
Ace A G 11: 105,860,615 (GRCm39) D174G probably benign Het
Aldh1l2 A G 10: 83,358,701 (GRCm39) V98A probably benign Het
AU040320 T A 4: 126,729,405 (GRCm39) F522L probably benign Het
Ccdc73 A G 2: 104,737,913 (GRCm39) D3G probably damaging Het
Cdk14 A C 5: 5,153,845 (GRCm39) L199V probably damaging Het
Cdk15 G T 1: 59,370,100 (GRCm39) A381S possibly damaging Het
Cyb5a A G 18: 84,891,280 (GRCm39) I68V probably benign Het
Dock5 G A 14: 68,043,945 (GRCm39) probably benign Het
Fbxw24 T A 9: 109,438,973 (GRCm39) K201* probably null Het
Gm5852 C T 3: 93,635,023 (GRCm39) noncoding transcript Het
Gsdma3 A G 11: 98,526,097 (GRCm39) K274E possibly damaging Het
Hoxa7 T A 6: 52,192,854 (GRCm39) Q178L probably damaging Het
Itgae G T 11: 73,024,844 (GRCm39) V992L probably benign Het
Klk1b26 A G 7: 43,665,736 (GRCm39) N183D probably benign Het
Krt39 A T 11: 99,411,667 (GRCm39) S140T probably damaging Het
Lama2 G A 10: 26,946,360 (GRCm39) T1953I probably benign Het
Mmp1a G A 9: 7,464,273 (GRCm39) R26Q probably benign Het
Myh7b A C 2: 155,456,411 (GRCm39) I175L probably benign Het
Nol11 A G 11: 107,080,082 (GRCm39) M1T probably null Het
Nrxn1 T A 17: 90,937,511 (GRCm39) I641F probably damaging Het
Or51ag1 A C 7: 103,155,934 (GRCm39) L73R probably damaging Het
Or8k3 A T 2: 86,058,591 (GRCm39) C241* probably null Het
Or9i2 T C 19: 13,815,851 (GRCm39) T229A probably benign Het
Parn G T 16: 13,485,456 (GRCm39) H13Q probably benign Het
Pcnx1 T C 12: 81,980,493 (GRCm39) probably benign Het
Phka2 G A X: 159,337,376 (GRCm39) probably null Het
Ppargc1a A T 5: 51,631,053 (GRCm39) D525E possibly damaging Het
Rad54l2 C A 9: 106,597,589 (GRCm39) R139L probably damaging Het
Rnf20 T C 4: 49,638,712 (GRCm39) V178A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sdccag8 C T 1: 176,705,622 (GRCm39) H479Y probably benign Het
Taf8 T C 17: 47,813,158 (GRCm39) T13A probably benign Het
Ttc8 T C 12: 98,930,796 (GRCm39) L270P possibly damaging Het
Ttn G A 2: 76,717,712 (GRCm39) Q365* probably null Het
Uchl1 A G 5: 66,833,637 (GRCm39) Q2R probably benign Het
Ufl1 A G 4: 25,254,896 (GRCm39) V440A probably damaging Het
Other mutations in Pdcd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Pdcd10 APN 3 75,448,540 (GRCm39) missense probably damaging 0.98
IGL01545:Pdcd10 APN 3 75,448,475 (GRCm39) missense possibly damaging 0.57
IGL02675:Pdcd10 APN 3 75,434,901 (GRCm39) missense probably damaging 1.00
R0299:Pdcd10 UTSW 3 75,434,958 (GRCm39) missense probably damaging 1.00
R0499:Pdcd10 UTSW 3 75,434,958 (GRCm39) missense probably damaging 1.00
R1674:Pdcd10 UTSW 3 75,448,486 (GRCm39) missense probably damaging 0.99
R4197:Pdcd10 UTSW 3 75,424,899 (GRCm39) missense possibly damaging 0.77
R4615:Pdcd10 UTSW 3 75,428,398 (GRCm39) missense probably damaging 1.00
R4908:Pdcd10 UTSW 3 75,448,553 (GRCm39) missense probably damaging 0.98
R5469:Pdcd10 UTSW 3 75,428,364 (GRCm39) nonsense probably null
R6628:Pdcd10 UTSW 3 75,428,378 (GRCm39) missense probably damaging 1.00
R9358:Pdcd10 UTSW 3 75,448,533 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16