Incidental Mutation 'IGL02830:Pde12'
ID361398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde12
Ensembl Gene ENSMUSG00000043702
Gene Namephosphodiesterase 12
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02830
Quality Score
Status
Chromosome14
Chromosomal Location26659958-26669883 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 26668585 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 323 (Y323C)
Ref Sequence ENSEMBL: ENSMUSP00000059666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052932]
Predicted Effect probably damaging
Transcript: ENSMUST00000052932
AA Change: Y323C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059666
Gene: ENSMUSG00000043702
AA Change: Y323C

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T A 17: 48,037,426 E67D possibly damaging Het
9530053A07Rik C A 7: 28,162,923 H2471Q probably damaging Het
Acad11 T A 9: 104,075,919 F116I probably damaging Het
Acox2 G A 14: 8,255,298 T160I probably damaging Het
Anxa7 A T 14: 20,456,540 M444K possibly damaging Het
Atg2a A G 19: 6,247,681 D423G probably benign Het
Cela3a T C 4: 137,401,635 N282S probably benign Het
Cyp2c50 G A 19: 40,098,056 V296I probably benign Het
Fgd3 A G 13: 49,264,631 probably benign Het
Gimap8 G A 6: 48,656,305 A353T probably benign Het
Grin3a T A 4: 49,702,787 M900L possibly damaging Het
H1f0 T G 15: 79,029,311 probably benign Het
Heatr1 T C 13: 12,426,212 V1456A possibly damaging Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Kbtbd3 T A 9: 4,330,096 S157T possibly damaging Het
Kif19a C T 11: 114,781,208 T207M probably damaging Het
Klc1 T C 12: 111,776,907 Y223H probably damaging Het
Klhl33 C T 14: 50,891,757 V672M probably damaging Het
Lrrc49 G A 9: 60,685,110 L34F probably damaging Het
Nalcn C T 14: 123,293,469 V1386I probably damaging Het
Olfr142 A T 2: 90,252,781 I69N probably damaging Het
Olfr201 A G 16: 59,269,053 S205P possibly damaging Het
Olfr292 T G 7: 86,695,174 C239W probably damaging Het
Olfr65 C T 7: 103,906,444 P2S probably benign Het
Orc5 A T 5: 22,529,267 L173Q probably damaging Het
Otud4 T G 8: 79,673,301 D880E probably benign Het
Pde8b G T 13: 95,052,901 D198E probably benign Het
Prom2 T A 2: 127,535,069 I542F possibly damaging Het
Ptprj G A 2: 90,453,144 T952I probably benign Het
Ribc2 T A 15: 85,132,257 probably benign Het
Sec31b C T 19: 44,531,703 R214K probably damaging Het
Senp5 G A 16: 31,983,485 probably benign Het
Sh3pxd2a G A 19: 47,283,078 R249W probably damaging Het
Sorcs3 G A 19: 48,723,002 probably null Het
Spata31d1c A G 13: 65,035,366 T241A probably benign Het
Tac1 G A 6: 7,555,650 V13I probably benign Het
Tnnc2 T A 2: 164,777,510 D138V probably null Het
Tspan32 T A 7: 143,017,592 M159K possibly damaging Het
Tsta3 C T 15: 75,925,588 V275I probably benign Het
Ttc28 A T 5: 111,286,239 T2380S probably benign Het
Ubc T A 5: 125,387,313 I317F probably damaging Het
Usp24 T C 4: 106,347,387 S268P possibly damaging Het
Vmn2r91 C A 17: 18,136,622 H850Q probably benign Het
Xrn1 T C 9: 96,018,181 probably null Het
Zfp329 A C 7: 12,810,116 C494G probably damaging Het
Zfp54 T C 17: 21,433,456 S71P probably damaging Het
Other mutations in Pde12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02085:Pde12 APN 14 26666464 unclassified probably benign
IGL02306:Pde12 APN 14 26668378 missense possibly damaging 0.83
IGL02630:Pde12 APN 14 26666397 missense probably damaging 1.00
IGL03268:Pde12 APN 14 26668459 missense probably benign 0.32
R1727:Pde12 UTSW 14 26668867 missense probably benign 0.02
R2057:Pde12 UTSW 14 26668880 missense probably benign
R2059:Pde12 UTSW 14 26668880 missense probably benign
R2510:Pde12 UTSW 14 26665526 makesense probably null
R4174:Pde12 UTSW 14 26668989 missense probably benign 0.00
R5121:Pde12 UTSW 14 26669422 nonsense probably null
R5190:Pde12 UTSW 14 26666377 critical splice donor site probably null
R5387:Pde12 UTSW 14 26666453 missense probably benign 0.00
R5847:Pde12 UTSW 14 26665631 missense possibly damaging 0.96
R5987:Pde12 UTSW 14 26669098 missense probably benign 0.02
R7495:Pde12 UTSW 14 26668839 missense probably benign 0.19
R8021:Pde12 UTSW 14 26665699 nonsense probably null
Posted On2015-12-18