Incidental Mutation 'IGL02632:Pdcd2'
ID301329
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd2
Ensembl Gene ENSMUSG00000014771
Gene Nameprogrammed cell death 2
SynonymsRP-8
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02632
Quality Score
Status
Chromosome17
Chromosomal Location15519208-15527301 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 15521792 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 292 (V292A)
Ref Sequence ENSEMBL: ENSMUSP00000052523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014911] [ENSMUST00000054450] [ENSMUST00000117593] [ENSMUST00000118001] [ENSMUST00000153480] [ENSMUST00000154293] [ENSMUST00000162505]
Predicted Effect probably benign
Transcript: ENSMUST00000014911
SMART Domains Protein: ENSMUSP00000014911
Gene: ENSMUSG00000014767

DomainStartEndE-ValueType
low complexity region 55 97 N/A INTRINSIC
low complexity region 103 115 N/A INTRINSIC
low complexity region 117 133 N/A INTRINSIC
Pfam:TBP 138 222 4.3e-34 PFAM
Pfam:TBP 227 313 3.4e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000054450
AA Change: V292A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052523
Gene: ENSMUSG00000014771
AA Change: V292A

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
Pfam:zf-MYND 134 171 2.2e-10 PFAM
Pfam:PDCD2_C 188 338 6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117593
SMART Domains Protein: ENSMUSP00000112794
Gene: ENSMUSG00000014767

DomainStartEndE-ValueType
low complexity region 55 97 N/A INTRINSIC
low complexity region 103 115 N/A INTRINSIC
low complexity region 117 133 N/A INTRINSIC
Pfam:TBP 138 222 4.3e-34 PFAM
Pfam:TBP 227 313 3.4e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118001
SMART Domains Protein: ENSMUSP00000113999
Gene: ENSMUSG00000014767

DomainStartEndE-ValueType
low complexity region 55 97 N/A INTRINSIC
low complexity region 103 115 N/A INTRINSIC
low complexity region 117 133 N/A INTRINSIC
Pfam:TBP 138 204 1.4e-29 PFAM
Pfam:TBP 203 257 4.4e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137233
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153480
SMART Domains Protein: ENSMUSP00000114471
Gene: ENSMUSG00000014767

DomainStartEndE-ValueType
Pfam:TBP 30 114 5e-35 PFAM
Pfam:TBP 119 205 4.4e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154293
SMART Domains Protein: ENSMUSP00000118625
Gene: ENSMUSG00000014771

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
Pfam:zf-MYND 134 171 4.3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162505
SMART Domains Protein: ENSMUSP00000124317
Gene: ENSMUSG00000014767

DomainStartEndE-ValueType
low complexity region 55 97 N/A INTRINSIC
low complexity region 103 115 N/A INTRINSIC
low complexity region 117 133 N/A INTRINSIC
Pfam:TBP 139 221 1.1e-34 PFAM
Pfam:TBP 229 312 8.5e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232149
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 a nuclear protein expressed in a variety of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on this protein. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before implantation with most arresting before the blastocyst satge. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T C 8: 40,755,200 V501A possibly damaging Het
Alpl T G 4: 137,753,906 N145T probably damaging Het
Aqp5 T A 15: 99,593,335 probably benign Het
Armc4 A G 18: 7,214,727 probably benign Het
Atp1a2 T A 1: 172,280,614 D640V possibly damaging Het
Atp5o T C 16: 91,928,942 E49G probably benign Het
Card14 A G 11: 119,338,904 D747G probably benign Het
Cpz A T 5: 35,511,811 D325E possibly damaging Het
Crim1 T C 17: 78,372,674 I948T probably benign Het
Dpysl3 A T 18: 43,393,025 S2T possibly damaging Het
Fat4 T C 3: 39,002,764 V4203A probably benign Het
Gapvd1 G A 2: 34,684,174 probably benign Het
Gm7173 A T X: 79,496,673 L553H probably damaging Het
Gpatch2 A G 1: 187,225,981 R155G probably damaging Het
Grpr A T X: 163,515,094 V318E probably damaging Het
Hipk1 T C 3: 103,760,545 T569A probably benign Het
Il3ra G A 14: 14,350,807 probably null Het
Llgl2 A G 11: 115,844,872 H98R probably damaging Het
Loxhd1 A G 18: 77,405,932 D663G probably damaging Het
Lrrc71 T C 3: 87,743,340 N205S probably damaging Het
Mamdc2 C T 19: 23,330,976 E521K probably benign Het
Mapre2 A G 18: 23,858,160 M162V probably benign Het
Mettl22 T C 16: 8,484,253 probably benign Het
Mib2 T C 4: 155,655,579 D739G probably damaging Het
Mroh2b T C 15: 4,931,101 F772S probably damaging Het
Mtss1 C T 15: 58,944,015 M565I probably damaging Het
Myt1l T G 12: 29,914,293 S1077A unknown Het
Nalcn T C 14: 123,317,853 T873A probably benign Het
Nwd1 T A 8: 72,667,454 H448Q possibly damaging Het
Olfr1052 T C 2: 86,298,560 V248A probably damaging Het
Olfr114 T C 17: 37,590,341 E4G probably benign Het
Olfr631 A G 7: 103,929,707 I295V possibly damaging Het
Palld C T 8: 61,515,245 E1096K probably damaging Het
Pde2a A G 7: 101,504,656 Y477C probably damaging Het
Pramef25 A G 4: 143,949,937 I199T possibly damaging Het
Rcbtb1 T C 14: 59,224,682 L254P probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rsl1 A C 13: 67,182,163 H225P probably damaging Het
Sec14l2 T C 11: 4,111,222 I80V probably benign Het
Sema6a G T 18: 47,290,155 D261E probably damaging Het
Serpinb9b T A 13: 33,039,823 S333T probably benign Het
Slc24a4 T C 12: 102,234,682 V277A probably benign Het
Snap91 T A 9: 86,839,522 H88L possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmprss15 T A 16: 78,985,902 N758I probably damaging Het
Ube3b C T 5: 114,398,841 A300V probably benign Het
Vmn2r82 G A 10: 79,356,708 V40I probably benign Het
Vsig4 G T X: 96,247,772 Q265K probably benign Het
Wdr91 T C 6: 34,889,042 D525G probably damaging Het
Other mutations in Pdcd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0433:Pdcd2 UTSW 17 15526384 missense probably benign 0.37
R1368:Pdcd2 UTSW 17 15526584 missense probably damaging 1.00
R5083:Pdcd2 UTSW 17 15522822 missense possibly damaging 0.50
R5508:Pdcd2 UTSW 17 15521739 missense probably damaging 1.00
R5963:Pdcd2 UTSW 17 15526394 missense possibly damaging 0.91
R5963:Pdcd2 UTSW 17 15526395 missense probably damaging 1.00
R6944:Pdcd2 UTSW 17 15525370 missense possibly damaging 0.82
R6993:Pdcd2 UTSW 17 15527081 missense probably damaging 1.00
Posted On2015-04-16