Incidental Mutation 'IGL02630:Pde12'
ID 301261
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde12
Ensembl Gene ENSMUSG00000043702
Gene Name phosphodiesterase 12
Synonyms E430028B21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02630
Quality Score
Status
Chromosome 14
Chromosomal Location 26381113-26390823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26387552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 455 (H455Q)
Ref Sequence ENSEMBL: ENSMUSP00000059666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052932]
AlphaFold Q3TIU4
Predicted Effect probably damaging
Transcript: ENSMUST00000052932
AA Change: H455Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059666
Gene: ENSMUSG00000043702
AA Change: H455Q

DomainStartEndE-ValueType
low complexity region 13 25 N/A INTRINSIC
low complexity region 210 223 N/A INTRINSIC
Pfam:Exo_endo_phos 297 598 1.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167376
SMART Domains Protein: ENSMUSP00000127272
Gene: ENSMUSG00000021877

DomainStartEndE-ValueType
Pfam:Arf 1 60 4.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184349
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,441 (GRCm39) V3575E probably damaging Het
Arfgef3 G A 10: 18,537,140 (GRCm39) probably benign Het
Arhgap23 A G 11: 97,345,123 (GRCm39) T631A probably benign Het
Chka T A 19: 3,942,112 (GRCm39) H355Q possibly damaging Het
Ctsj C T 13: 61,149,214 (GRCm39) A277T probably damaging Het
Ddx49 T C 8: 70,753,668 (GRCm39) D67G probably damaging Het
Dennd4b T C 3: 90,180,284 (GRCm39) S716P probably benign Het
Enpp5 G T 17: 44,393,766 (GRCm39) D321Y probably damaging Het
Espl1 A G 15: 102,205,253 (GRCm39) E17G probably benign Het
Fam161b G A 12: 84,400,688 (GRCm39) P428L probably benign Het
Fbxw7 T C 3: 84,872,586 (GRCm39) L256S probably damaging Het
Fgfr2 G T 7: 129,830,525 (GRCm39) probably null Het
Foxred2 C T 15: 77,831,362 (GRCm39) V484I probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
H3c1 C T 13: 23,946,231 (GRCm39) V36M probably benign Het
Hipk2 T C 6: 38,795,456 (GRCm39) N271S possibly damaging Het
Ifna1 A G 4: 88,768,496 (GRCm39) D58G possibly damaging Het
Igkv4-80 A T 6: 68,993,680 (GRCm39) Y70* probably null Het
Ivns1abp G A 1: 151,235,386 (GRCm39) R218H probably damaging Het
Kng1 A T 16: 22,898,595 (GRCm39) probably benign Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Lgals12 T C 19: 7,578,607 (GRCm39) probably benign Het
Lpar4 T A X: 105,974,817 (GRCm39) F334I probably benign Het
Muc5b G A 7: 141,416,968 (GRCm39) G3305S probably benign Het
Nalcn T C 14: 123,555,291 (GRCm39) D864G probably benign Het
Ndor1 T C 2: 25,145,299 (GRCm39) E22G probably damaging Het
Nt5c2 T A 19: 46,912,749 (GRCm39) M69L probably benign Het
Or52ab4 A C 7: 102,987,636 (GRCm39) Y125S probably damaging Het
Or8k22 T C 2: 86,163,212 (GRCm39) I163V probably benign Het
Pdia6 A G 12: 17,324,422 (GRCm39) H91R probably benign Het
Pdk4 A T 6: 5,491,671 (GRCm39) I179K possibly damaging Het
Prl2c1 T C 13: 28,041,480 (GRCm39) probably benign Het
Rasgrf2 C T 13: 92,267,900 (GRCm39) E35K probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Secisbp2 C A 13: 51,832,942 (GRCm39) T608K possibly damaging Het
Slco1a7 T C 6: 141,668,836 (GRCm39) Y532C probably damaging Het
Slmap A G 14: 26,143,586 (GRCm39) V750A possibly damaging Het
Spaca6 T A 17: 18,051,351 (GRCm39) L9Q probably damaging Het
Sycp1 T C 3: 102,786,080 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,712 (GRCm39) D131E probably damaging Het
Tc2n A T 12: 101,659,404 (GRCm39) D176E probably damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Trank1 T C 9: 111,202,143 (GRCm39) V1590A possibly damaging Het
Tyrp1 T C 4: 80,758,994 (GRCm39) V289A possibly damaging Het
Ube2dnl1 T A X: 113,815,483 (GRCm39) C119* probably null Het
Vmn1r191 T A 13: 22,363,431 (GRCm39) I108F possibly damaging Het
Zfp710 T A 7: 79,731,789 (GRCm39) I322N probably damaging Het
Other mutations in Pde12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02085:Pde12 APN 14 26,387,619 (GRCm39) unclassified probably benign
IGL02306:Pde12 APN 14 26,389,533 (GRCm39) missense possibly damaging 0.83
IGL02830:Pde12 APN 14 26,389,740 (GRCm39) missense probably damaging 1.00
IGL03268:Pde12 APN 14 26,389,614 (GRCm39) missense probably benign 0.32
R1727:Pde12 UTSW 14 26,390,022 (GRCm39) missense probably benign 0.02
R2057:Pde12 UTSW 14 26,390,035 (GRCm39) missense probably benign
R2059:Pde12 UTSW 14 26,390,035 (GRCm39) missense probably benign
R2510:Pde12 UTSW 14 26,386,681 (GRCm39) makesense probably null
R4174:Pde12 UTSW 14 26,390,144 (GRCm39) missense probably benign 0.00
R5121:Pde12 UTSW 14 26,390,577 (GRCm39) nonsense probably null
R5190:Pde12 UTSW 14 26,387,532 (GRCm39) critical splice donor site probably null
R5387:Pde12 UTSW 14 26,387,608 (GRCm39) missense probably benign 0.00
R5847:Pde12 UTSW 14 26,386,786 (GRCm39) missense possibly damaging 0.96
R5987:Pde12 UTSW 14 26,390,253 (GRCm39) missense probably benign 0.02
R7495:Pde12 UTSW 14 26,389,994 (GRCm39) missense probably benign 0.19
R8021:Pde12 UTSW 14 26,386,854 (GRCm39) nonsense probably null
R8865:Pde12 UTSW 14 26,390,280 (GRCm39) missense possibly damaging 0.51
R8898:Pde12 UTSW 14 26,390,577 (GRCm39) missense probably benign 0.22
R9300:Pde12 UTSW 14 26,386,931 (GRCm39) missense probably damaging 0.98
R9331:Pde12 UTSW 14 26,389,828 (GRCm39) missense probably benign
R9604:Pde12 UTSW 14 26,390,008 (GRCm39) missense possibly damaging 0.63
R9739:Pde12 UTSW 14 26,386,757 (GRCm39) missense possibly damaging 0.66
Posted On 2015-04-16