Incidental Mutation 'R8233:Pdcd1'
ID 637202
Institutional Source Beutler Lab
Gene Symbol Pdcd1
Ensembl Gene ENSMUSG00000026285
Gene Name programmed cell death 1
Synonyms Pdc1, PD-1
MMRRC Submission 067665-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R8233 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 93966027-93980278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93967142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 252 (V252A)
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 damaging
Transcript: ENSMUST00000027507
AA Change: V252A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027507
Gene: ENSMUSG00000026285
AA Change: V252A

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: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.8%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik A T 18: 70,602,687 (GRCm39) V42E probably benign Het
Abca12 T C 1: 71,390,916 (GRCm39) E153G probably benign Het
Adamts20 A C 15: 94,189,533 (GRCm39) I1440S probably benign Het
Aspm T A 1: 139,385,042 (GRCm39) S229T probably benign Het
Atp2b2 A T 6: 113,742,680 (GRCm39) probably null Het
Cd101 G T 3: 100,900,989 (GRCm39) H1032N unknown Het
Col6a2 A G 10: 76,444,540 (GRCm39) probably null Het
Crot A T 5: 9,026,027 (GRCm39) I320K possibly damaging Het
D5Ertd579e A T 5: 36,772,588 (GRCm39) D602E probably damaging Het
Degs1 A G 1: 182,107,160 (GRCm39) V69A probably benign Het
Dgkz A G 2: 91,769,994 (GRCm39) S557P probably damaging Het
Fat1 T A 8: 45,405,055 (GRCm39) L602Q Het
Gli2 A T 1: 118,772,167 (GRCm39) Y513N probably damaging Het
H2-Q10 A G 17: 35,781,983 (GRCm39) T202A probably benign Het
Hnrnpa3 A G 2: 75,492,860 (GRCm39) N195D probably benign Het
Ifna1 C T 4: 88,768,628 (GRCm39) T102I possibly damaging Het
Igfbp3 T A 11: 7,160,152 (GRCm39) H167L probably benign Het
Igfn1 T C 1: 135,895,782 (GRCm39) T1595A probably benign Het
Krt14 A G 11: 100,094,178 (GRCm39) V472A probably damaging Het
Lrrc74b T A 16: 17,376,089 (GRCm39) H187L probably benign Het
Magoh T G 4: 107,738,132 (GRCm39) V44G possibly damaging Het
Mbnl1 A T 3: 60,532,551 (GRCm39) I274L probably benign Het
Or13a27 T G 7: 139,925,411 (GRCm39) M164L probably benign Het
Or4c108 C T 2: 88,804,082 (GRCm39) R51H probably benign Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plcxd3 A G 15: 4,546,317 (GRCm39) D107G possibly damaging Het
Polr2m T A 9: 71,390,866 (GRCm39) D112V probably benign Het
Ptprn A T 1: 75,229,796 (GRCm39) M701K probably damaging Het
Rxrb A G 17: 34,255,879 (GRCm39) D421G possibly damaging Het
Slfn4 A G 11: 83,078,355 (GRCm39) E381G probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Srgap1 A G 10: 121,661,341 (GRCm39) I530T probably damaging Het
Stmn4 A G 14: 66,595,341 (GRCm39) H122R probably damaging Het
Sycp2 T C 2: 177,998,427 (GRCm39) E1031G probably damaging Het
Tle1 T C 4: 72,043,181 (GRCm39) T553A probably benign Het
Tnik T A 3: 28,609,086 (GRCm39) W217R unknown Het
Tyrp1 T C 4: 80,769,190 (GRCm39) V161A unknown Het
Usp29 T A 7: 6,965,406 (GRCm39) F416L probably benign Het
Usp45 T C 4: 21,781,736 (GRCm39) V34A probably benign Het
Vmn1r119 A G 7: 20,745,932 (GRCm39) V150A probably damaging 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
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
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'- AACTGTAGCCTGCATGCTCC -3'
(R):5'- TTATGGGATGCACACACCACC -3'

Sequencing Primer
(F):5'- TCTTGACTGAGGGACGGAC -3'
(R):5'- CCCCCAACTGACTATAACAATGG -3'
Posted On 2020-07-13