Incidental Mutation 'R6186:Pdcd1'
ID 502149
Institutional Source Beutler Lab
Gene Symbol Pdcd1
Ensembl Gene ENSMUSG00000026285
Gene Name programmed cell death 1
Synonyms Pdc1, PD-1
MMRRC Submission 044326-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # R6186 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 93966027-93980278 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 93967846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 202 (R202*)
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 null
Transcript: ENSMUST00000027507
AA Change: R202*
SMART Domains Protein: ENSMUSP00000027507
Gene: ENSMUSG00000026285
AA Change: R202*

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,298,502 (GRCm39) S409P probably damaging Het
Adgrg5 T C 8: 95,660,652 (GRCm39) V93A possibly damaging Het
Akap8l C T 17: 32,552,018 (GRCm39) V420I probably benign Het
Ankrd36 T G 11: 5,593,812 (GRCm39) D472E possibly damaging Het
Apbb1 T C 7: 105,216,933 (GRCm39) E250G probably damaging Het
Cacna2d4 G A 6: 119,258,650 (GRCm39) E579K possibly damaging Het
Capn7 G T 14: 31,092,875 (GRCm39) G780W probably damaging Het
Celsr1 T C 15: 85,805,394 (GRCm39) E2419G possibly damaging Het
Cep164 A T 9: 45,705,407 (GRCm39) S363R probably damaging Het
Cfap221 T A 1: 119,862,340 (GRCm39) I581F probably damaging Het
Cog2 C A 8: 125,273,425 (GRCm39) T588N probably damaging Het
Cyp2a5 T C 7: 26,542,813 (GRCm39) probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Evx1 T C 6: 52,291,203 (GRCm39) probably null Het
Fam186a T C 15: 99,845,206 (GRCm39) H346R unknown Het
Fam53b T A 7: 132,317,445 (GRCm39) D399V possibly damaging Het
Fcho2 T A 13: 98,951,591 (GRCm39) N9I probably benign Het
Fjx1 T C 2: 102,281,152 (GRCm39) E261G probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fkbpl T C 17: 34,865,153 (GRCm39) F307S probably benign Het
Fn1 A G 1: 71,676,449 (GRCm39) I594T probably damaging Het
Inpp4b T A 8: 82,772,863 (GRCm39) V719E probably damaging Het
Ldlr C T 9: 21,635,055 (GRCm39) probably benign Het
Macf1 A G 4: 123,377,968 (GRCm39) V1419A probably damaging Het
Mapkap1 A G 2: 34,453,126 (GRCm39) T340A possibly damaging Het
Mark2 A G 19: 7,260,567 (GRCm39) V403A probably benign Het
Mast3 T C 8: 71,238,127 (GRCm39) T521A probably damaging Het
Mrtfa T C 15: 80,900,853 (GRCm39) K546R probably damaging Het
Myo1h C T 5: 114,457,864 (GRCm39) T125I possibly damaging Het
Ndufa8 A G 2: 35,929,752 (GRCm39) V118A probably benign Het
Nphs1 A G 7: 30,165,059 (GRCm39) T551A probably damaging Het
Or2k2 T C 4: 58,784,948 (GRCm39) Y258C probably damaging Het
Or4k15c T A 14: 50,321,982 (GRCm39) D52V probably damaging Het
Pcm1 T C 8: 41,746,830 (GRCm39) L1343P probably benign Het
Pramel52-ps T A 5: 94,531,835 (GRCm39) Y240N probably benign Het
Prkab2 A G 3: 97,571,307 (GRCm39) probably null Het
Ptdss2 T C 7: 140,734,862 (GRCm39) probably benign Het
Rap1b G T 10: 117,656,457 (GRCm39) F78L probably damaging Het
Rbl2 C T 8: 91,833,358 (GRCm39) T711I probably damaging Het
Rhobtb2 A G 14: 70,035,693 (GRCm39) I126T probably damaging Het
Rimoc1 C A 15: 4,015,851 (GRCm39) D238Y possibly damaging Het
Rnf123 A C 9: 107,947,157 (GRCm39) S210A possibly damaging Het
Shank1 T A 7: 44,001,990 (GRCm39) F1228L probably benign Het
Spata31f3 T C 4: 42,872,000 (GRCm39) K125R possibly damaging Het
Sumo1 C A 1: 59,683,729 (GRCm39) V38L probably benign Het
Sycp2 C T 2: 178,025,353 (GRCm39) S363N probably damaging Het
Tbx2 G T 11: 85,728,672 (GRCm39) E352* probably null Het
Timm44 T C 8: 4,316,824 (GRCm39) N270D probably damaging Het
Topaz1 A T 9: 122,577,891 (GRCm39) Q267L probably benign Het
Trp63 T C 16: 25,695,483 (GRCm39) probably benign Het
Ushbp1 T A 8: 71,843,647 (GRCm39) T264S possibly damaging Het
Vav3 A G 3: 109,423,383 (GRCm39) Y334C probably damaging Het
Wdr36 G C 18: 32,985,954 (GRCm39) A553P probably benign Het
Zfhx2 A T 14: 55,300,617 (GRCm39) I2378K probably damaging Het
Zfp276 T A 8: 123,982,672 (GRCm39) Y145* probably null Het
Zfp458 T C 13: 67,405,701 (GRCm39) E246G probably damaging Het
Zfp526 A G 7: 24,925,561 (GRCm39) T607A probably benign Het
Other mutations in Pdcd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Pdcd1 APN 1 93,967,860 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACAACAGGATATGGCTCTGGG -3'
(R):5'- TTAGTAAATGGGAAGGGTGCCC -3'

Sequencing Primer
(F):5'- CTCTGGGGGCCTGGTAGAAAATG -3'
(R):5'- GCCCATGGTGTAGATCTCTTCAG -3'
Posted On 2018-02-27