Incidental Mutation 'R0976:Pdcd2l'
ID 81161
Institutional Source Beutler Lab
Gene Symbol Pdcd2l
Ensembl Gene ENSMUSG00000002635
Gene Name programmed cell death 2-like
Synonyms 6030457N17Rik
MMRRC Submission 039105-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R0976 (G1)
Quality Score 170
Status Not validated
Chromosome 7
Chromosomal Location 33883924-33896086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 33895771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 67 (D67E)
Ref Sequence ENSEMBL: ENSMUSP00000002710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002710] [ENSMUST00000038027]
AlphaFold Q8C5N5
Predicted Effect probably benign
Transcript: ENSMUST00000002710
AA Change: D67E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002710
Gene: ENSMUSG00000002635
AA Change: D67E

DomainStartEndE-ValueType
Pfam:PDCD2_C 192 356 3e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038027
SMART Domains Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427

DomainStartEndE-ValueType
Pfam:PGI 54 546 1e-265 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125803
Predicted Effect unknown
Transcript: ENSMUST00000148381
AA Change: D55E
SMART Domains Protein: ENSMUSP00000115874
Gene: ENSMUSG00000002635
AA Change: D55E

DomainStartEndE-ValueType
Pfam:PDCD2_C 181 270 4.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206088
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.6%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
Arap2 T A 5: 62,807,227 (GRCm39) I1147F probably damaging Het
Arl10 T C 13: 54,723,621 (GRCm39) probably benign Het
Axin1 A G 17: 26,407,060 (GRCm39) E551G probably damaging Het
Ccr6 T A 17: 8,475,254 (GRCm39) L153Q probably damaging Het
Cntnap2 C T 6: 47,248,164 (GRCm39) P1190L probably damaging Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cux1 T A 5: 136,342,144 (GRCm39) D416V probably damaging Het
Cyp2c67 G T 19: 39,631,818 (GRCm39) F126L probably damaging Het
Cyp3a57 A G 5: 145,327,278 (GRCm39) I490V probably benign Het
Dsc1 T C 18: 20,228,098 (GRCm39) probably null Het
Fam83f T A 15: 80,576,285 (GRCm39) V312E probably damaging Het
Fsip2 A G 2: 82,828,375 (GRCm39) D6724G possibly damaging Het
Gabrr3 G T 16: 59,281,887 (GRCm39) C414F probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
H2bc18 T A 3: 96,177,402 (GRCm39) V112E probably benign Het
Herc1 A T 9: 66,347,160 (GRCm39) K2005M possibly damaging Het
Isyna1 C A 8: 71,048,936 (GRCm39) N338K probably damaging Het
Kalrn T C 16: 34,205,760 (GRCm39) D39G probably damaging Het
Mndal T A 1: 173,690,411 (GRCm39) R306S possibly damaging Het
Nek2 A G 1: 191,559,349 (GRCm39) R285G probably benign Het
Nrg2 A G 18: 36,154,144 (GRCm39) I591T probably benign Het
Or8u8 A G 2: 86,012,152 (GRCm39) L101S probably damaging Het
Pcdh10 T C 3: 45,335,236 (GRCm39) S517P probably damaging Het
Pex1 C A 5: 3,683,943 (GRCm39) D1146E probably benign Het
Pid1 A T 1: 84,136,946 (GRCm39) Y62N probably benign Het
Ppp4r1 T C 17: 66,148,013 (GRCm39) *935R probably null Het
Stag1 T C 9: 100,658,877 (GRCm39) F155L probably damaging Het
Stag1 G A 9: 100,812,069 (GRCm39) probably null Het
Taok2 C T 7: 126,474,323 (GRCm39) R302Q possibly damaging Het
Tbc1d8 A G 1: 39,445,882 (GRCm39) V103A probably damaging Het
Terf2ip T A 8: 112,738,349 (GRCm39) I79N probably damaging Het
Tgfb3 G A 12: 86,116,606 (GRCm39) T144I probably damaging Het
Top1 A G 2: 160,559,343 (GRCm39) N622S possibly damaging Het
Trappc9 T A 15: 72,871,823 (GRCm39) Q489L probably damaging Het
Vmn2r69 T C 7: 85,056,108 (GRCm39) T677A probably damaging Het
Wdr35 T C 12: 9,036,104 (GRCm39) F292L probably benign Het
Other mutations in Pdcd2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Pdcd2l APN 7 33,884,246 (GRCm39) splice site probably null
IGL00818:Pdcd2l APN 7 33,884,158 (GRCm39) missense possibly damaging 0.88
IGL01417:Pdcd2l APN 7 33,892,170 (GRCm39) missense probably damaging 1.00
R0600:Pdcd2l UTSW 7 33,892,232 (GRCm39) missense possibly damaging 0.47
R1815:Pdcd2l UTSW 7 33,885,826 (GRCm39) missense probably benign 0.06
R5215:Pdcd2l UTSW 7 33,892,314 (GRCm39) missense possibly damaging 0.75
R7743:Pdcd2l UTSW 7 33,892,256 (GRCm39) missense probably benign 0.18
R8842:Pdcd2l UTSW 7 33,884,192 (GRCm39) nonsense probably null
R9021:Pdcd2l UTSW 7 33,885,760 (GRCm39) missense probably damaging 1.00
R9570:Pdcd2l UTSW 7 33,892,401 (GRCm39) missense probably benign 0.44
R9635:Pdcd2l UTSW 7 33,892,356 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TGCCAATCAGAATCGCTTTACCTGC -3'
(R):5'- TGTACTGCTGGGACTTCGAGACAC -3'

Sequencing Primer
(F):5'- TTCCAGCTTAGAGGCAAGAC -3'
(R):5'- ACCTCTAGCAAGCTGGGTG -3'
Posted On 2013-11-07