Incidental Mutation 'R5469:Pdcd10'
ID 433393
Institutional Source Beutler Lab
Gene Symbol Pdcd10
Ensembl Gene ENSMUSG00000027835
Gene Name programmed cell death 10
Synonyms 2410003B13Rik, Tfa15, TF-1 cell apoptosis related protein-15, CCM3
MMRRC Submission 043030-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5469 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 75423797-75464159 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 75428364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 150 (K150*)
Ref Sequence ENSEMBL: ENSMUSP00000125752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029424] [ENSMUST00000161137]
AlphaFold Q8VE70
Predicted Effect probably null
Transcript: ENSMUST00000029424
AA Change: K87*
SMART Domains Protein: ENSMUSP00000029424
Gene: ENSMUSG00000027835
AA Change: K87*

DomainStartEndE-ValueType
Pfam:DUF1241 1 99 1.7e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160196
Predicted Effect probably null
Transcript: ENSMUST00000161137
AA Change: K150*
SMART Domains Protein: ENSMUSP00000125752
Gene: ENSMUSG00000027835
AA Change: K150*

DomainStartEndE-ValueType
Pfam:DUF1241 14 161 1.7e-66 PFAM
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Allc A T 12: 28,605,305 (GRCm39) N331K probably benign Het
Anapc1 G T 2: 128,517,621 (GRCm39) S341* probably null Het
Cacna1e T C 1: 154,319,683 (GRCm39) E1339G probably damaging Het
Cacna2d1 T A 5: 16,557,676 (GRCm39) I702N probably damaging Het
Casp2 C A 6: 42,246,268 (GRCm39) H209N probably benign Het
Casr A G 16: 36,330,392 (GRCm39) V314A probably benign Het
Ccne2 A T 4: 11,201,353 (GRCm39) R294* probably null Het
Cd180 T A 13: 102,841,342 (GRCm39) H129Q probably benign Het
Chst10 A T 1: 38,904,608 (GRCm39) Y362N probably damaging Het
Ctnna1 T A 18: 35,372,573 (GRCm39) D509E probably benign Het
Ctsh G T 9: 89,942,564 (GRCm39) probably null Het
Dhx29 C T 13: 113,081,073 (GRCm39) A369V possibly damaging Het
Enox1 A G 14: 77,830,414 (GRCm39) T340A probably benign Het
Fam135b T A 15: 71,317,892 (GRCm39) T1357S probably benign Het
Flt3 A T 5: 147,291,893 (GRCm39) S544T possibly damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gsap A T 5: 21,495,542 (GRCm39) Y831F possibly damaging Het
Hnrnpr C T 4: 136,046,745 (GRCm39) T142M probably damaging Het
Jak3 A G 8: 72,131,417 (GRCm39) D94G probably benign Het
Ktn1 A T 14: 47,928,377 (GRCm39) E579D probably damaging Het
Lama2 G A 10: 26,917,185 (GRCm39) P2247S possibly damaging Het
Lrba C T 3: 86,449,948 (GRCm39) S2089F probably damaging Het
Map1b C T 13: 99,565,846 (GRCm39) V2292M unknown Het
Mphosph10 A T 7: 64,039,193 (GRCm39) probably null Het
Pappa C T 4: 65,123,389 (GRCm39) T908M probably benign Het
Piezo2 A T 18: 63,160,935 (GRCm39) I2275N probably damaging Het
Pmvk T C 3: 89,374,989 (GRCm39) probably null Het
Pold2 G A 11: 5,823,048 (GRCm39) P376S probably damaging Het
Prtg A T 9: 72,799,247 (GRCm39) Q759L probably damaging Het
Rad51ap1 C T 6: 126,905,190 (GRCm39) S107N probably damaging Het
Rfk T A 19: 17,372,566 (GRCm39) N29K probably damaging Het
Ror2 T C 13: 53,271,375 (GRCm39) M315V probably benign Het
Rrn3 A G 16: 13,630,964 (GRCm39) E600G probably benign Het
Ryk A G 9: 102,784,153 (GRCm39) Y593C possibly damaging Het
Slc30a3 T A 5: 31,246,004 (GRCm39) D193V probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Srbd1 C A 17: 86,427,370 (GRCm39) C421F possibly damaging Het
Sstr5 A C 17: 25,711,043 (GRCm39) V62G probably damaging Het
Tfip11 G A 5: 112,482,191 (GRCm39) W483* probably null Het
Tlk1 T C 2: 70,552,012 (GRCm39) H553R probably benign Het
Tnc T C 4: 63,932,162 (GRCm39) probably null Het
Trav12-1 A G 14: 53,775,930 (GRCm39) T27A probably damaging Het
Usp9y G A Y: 1,364,714 (GRCm39) T1033I probably benign Het
V1ra8 C T 6: 90,180,186 (GRCm39) H130Y probably benign Het
Vmn2r77 A T 7: 86,451,271 (GRCm39) M386L probably benign 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
IGL02179:Pdcd10 APN 3 75,434,922 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCAAGTCAAAGGGCAATGGC -3'
(R):5'- GCAAATGAGCACTTTGAGGGTC -3'

Sequencing Primer
(F):5'- TGAATATGGCATGATTTATAGTCCG -3'
(R):5'- GCACTACACTTGGGATGATTGCAC -3'
Posted On 2016-10-06