Incidental Mutation 'IGL00226:Pdcd1'
ID 2530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd1
Ensembl Gene ENSMUSG00000026285
Gene Name programmed cell death 1
Synonyms Pdc1, PD-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # IGL00226
Quality Score
Status
Chromosome 1
Chromosomal Location 93966027-93980278 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 93967860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027507]
AlphaFold Q02242
PDB Structure CRYSTAL STRUCTURE OF THE EXTRACELLULAR DOMAIN OF MURINE PD-1 [X-RAY DIFFRACTION]
Crystal Structure of the PD-1/PD-L1 Complex [X-RAY DIFFRACTION]
Crystal structure of the mouse PD-1 and PD-L2 complex [X-RAY DIFFRACTION]
Crystal structure of the mouse PD-1 Mutant and PD-L2 complex [X-RAY DIFFRACTION]
Crystal structure of the complex between mouse PD-1 mutant and PD-L2 IgV domain [X-RAY DIFFRACTION]
Crystal structure of the complex between the extracellular domains of mouse PD-1 mutant and PD-L2 [X-RAY DIFFRACTION]
Crystal structure of the complex between the extracellular domains of mouse PD-1 mutant and human PD-L1 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000027507
SMART Domains Protein: ENSMUSP00000027507
Gene: ENSMUSG00000026285

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 39 145 3.33e-9 SMART
transmembrane domain 170 192 N/A INTRINSIC
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 cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in leukopoiesis and the immune system which vary considerably depending on the genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik C A 3: 36,533,690 (GRCm39) probably benign Het
Ankib1 G A 5: 3,777,573 (GRCm39) S439L probably benign Het
Cdcp3 T A 7: 130,839,823 (GRCm39) probably null Het
Cpd G T 11: 76,688,615 (GRCm39) H886N probably benign Het
Dhrs7 A G 12: 72,706,124 (GRCm39) C94R probably damaging Het
Dmxl2 T A 9: 54,323,277 (GRCm39) H1369L probably damaging Het
Dnah5 A G 15: 28,272,488 (GRCm39) N1068S probably benign Het
Dop1a T A 9: 86,433,732 (GRCm39) D2329E possibly damaging Het
Eif1ad A G 19: 5,418,212 (GRCm39) probably benign Het
Fam149a T C 8: 45,792,380 (GRCm39) R693G probably damaging Het
Fbxw18 T A 9: 109,522,411 (GRCm39) T153S probably benign Het
Glg1 A T 8: 111,886,481 (GRCm39) C1104S probably damaging Het
Jak3 T C 8: 72,134,341 (GRCm39) probably benign Het
Kctd6 C T 14: 8,222,856 (GRCm38) R233C possibly damaging Het
Kpna3 A G 14: 61,611,737 (GRCm39) V300A possibly damaging Het
Msh5 A T 17: 35,248,857 (GRCm39) Y725* probably null Het
Myh2 T C 11: 67,076,059 (GRCm39) S749P possibly damaging Het
Or2ag15 T A 7: 106,340,908 (GRCm39) T78S probably benign Het
Or4c110 A G 2: 88,831,683 (GRCm39) probably benign Het
Or5ac17 A T 16: 59,036,859 (GRCm39) M39K probably damaging Het
Or8g19 T A 9: 39,056,053 (GRCm39) I219N possibly damaging Het
Pde5a T A 3: 122,588,006 (GRCm39) F391I probably damaging Het
Ptpn12 A C 5: 21,203,666 (GRCm39) S371A probably damaging Het
Sec16b A G 1: 157,365,900 (GRCm39) Y254C probably damaging Het
Slc2a10 G A 2: 165,356,700 (GRCm39) C120Y probably damaging Het
Spink5 G A 18: 44,120,938 (GRCm39) probably benign Het
Svil A G 18: 5,099,045 (GRCm39) Q1250R probably benign Het
Tph1 G T 7: 46,306,294 (GRCm39) N222K probably benign Het
Vmn2r83 A T 10: 79,314,805 (GRCm39) D351V probably damaging Het
Zfp54 A G 17: 21,653,821 (GRCm39) D105G possibly damaging Het
Zfp623 T C 15: 75,820,052 (GRCm39) I336T probably damaging Het
Other mutations in Pdcd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01522:Pdcd1 APN 1 93,968,571 (GRCm39) missense probably benign 0.00
IGL02337:Pdcd1 APN 1 93,968,582 (GRCm39) missense probably benign 0.08
IGL02750:Pdcd1 APN 1 93,967,269 (GRCm39) splice site probably benign
R6720_pdcd1_520 UTSW 1 93,969,114 (GRCm39) missense probably benign 0.00
R0092:Pdcd1 UTSW 1 93,980,149 (GRCm39) missense possibly damaging 0.49
R0554:Pdcd1 UTSW 1 93,967,107 (GRCm39) missense probably damaging 1.00
R0931:Pdcd1 UTSW 1 93,967,238 (GRCm39) missense probably benign 0.05
R3932:Pdcd1 UTSW 1 93,968,989 (GRCm39) missense probably benign 0.01
R5222:Pdcd1 UTSW 1 93,980,175 (GRCm39) missense probably damaging 0.99
R5914:Pdcd1 UTSW 1 93,968,550 (GRCm39) missense probably benign 0.15
R6186:Pdcd1 UTSW 1 93,967,846 (GRCm39) nonsense probably null
R6720:Pdcd1 UTSW 1 93,969,114 (GRCm39) missense probably benign 0.00
R6844:Pdcd1 UTSW 1 93,967,106 (GRCm39) missense probably benign 0.36
R7966:Pdcd1 UTSW 1 93,969,186 (GRCm39) missense probably damaging 1.00
R8233:Pdcd1 UTSW 1 93,967,142 (GRCm39) missense probably damaging 1.00
R8387:Pdcd1 UTSW 1 93,969,193 (GRCm39) missense probably damaging 1.00
R8677:Pdcd1 UTSW 1 93,968,952 (GRCm39) missense probably damaging 1.00
R8724:Pdcd1 UTSW 1 93,968,956 (GRCm39) missense probably damaging 1.00
R8823:Pdcd1 UTSW 1 93,969,220 (GRCm39) missense probably benign 0.00
R8875:Pdcd1 UTSW 1 93,967,092 (GRCm39) missense probably benign 0.06
R8876:Pdcd1 UTSW 1 93,980,155 (GRCm39) missense probably benign
R9041:Pdcd1 UTSW 1 93,969,091 (GRCm39) missense probably benign 0.33
R9081:Pdcd1 UTSW 1 93,968,880 (GRCm39) critical splice donor site probably null
Posted On 2011-12-09