Incidental Mutation 'IGL03068:Pde11a'
ID 409759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde11a
Ensembl Gene ENSMUSG00000075270
Gene Name phosphodiesterase 11A
Synonyms A630086N24Rik, 6330414F14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL03068
Quality Score
Status
Chromosome 2
Chromosomal Location 75819485-76169118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75848208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 873 (I873T)
Ref Sequence ENSEMBL: ENSMUSP00000097572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099992]
AlphaFold P0C1Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000099992
AA Change: I873T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: I873T

DomainStartEndE-ValueType
low complexity region 68 82 N/A INTRINSIC
low complexity region 149 164 N/A INTRINSIC
GAF 217 380 1.79e-30 SMART
GAF 402 568 2.34e-25 SMART
HDc 661 830 7.75e-6 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have enlarged lateral ventricles and exhibit abnormal behavior. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Gene trapped(1)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,311,171 (GRCm39) L14P probably damaging Het
Ak2 G T 4: 128,901,819 (GRCm39) probably benign Het
Appbp2 T C 11: 85,092,246 (GRCm39) Y311C probably damaging Het
Arl9 C A 5: 77,155,225 (GRCm39) L119I possibly damaging Het
Atp1a1 T C 3: 101,491,175 (GRCm39) H620R probably benign Het
Cfap52 T C 11: 67,826,682 (GRCm39) D381G probably benign Het
Cngb3 T C 4: 19,375,246 (GRCm39) F292S possibly damaging Het
Comtd1 G A 14: 21,897,711 (GRCm39) R203C probably damaging Het
Crmp1 G T 5: 37,422,633 (GRCm39) A147S possibly damaging Het
Csmd3 T A 15: 47,710,517 (GRCm39) H1586L possibly damaging Het
Ctnna1 G A 18: 35,382,785 (GRCm39) E644K possibly damaging Het
Dock3 T C 9: 106,841,958 (GRCm39) D957G possibly damaging Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
Eefsec G T 6: 88,235,209 (GRCm39) Q576K probably benign Het
Efcab5 T A 11: 76,994,927 (GRCm39) I1215L probably benign Het
Etfa A T 9: 55,394,766 (GRCm39) D160E probably benign Het
Exoc7 G A 11: 116,191,960 (GRCm39) R197C possibly damaging Het
G6pc1 A G 11: 101,261,576 (GRCm39) D92G probably benign Het
Gm3182 T A 14: 4,483,921 (GRCm38) probably null Het
Gm4952 A G 19: 12,601,068 (GRCm39) N96S probably damaging Het
Gpr156 G A 16: 37,812,491 (GRCm39) V276M probably damaging Het
Irs2 A G 8: 11,054,974 (GRCm39) S1153P probably damaging Het
Kif21b T C 1: 136,086,093 (GRCm39) probably benign Het
Lmo7 A T 14: 102,112,928 (GRCm39) probably benign Het
Mapk4 G T 18: 74,103,415 (GRCm39) N31K probably damaging Het
Mccc2 T C 13: 100,100,319 (GRCm39) T357A probably damaging Het
Mpeg1 A G 19: 12,439,570 (GRCm39) T343A probably benign Het
Myo3b G T 2: 70,257,160 (GRCm39) probably benign Het
Pald1 T C 10: 61,156,963 (GRCm39) E829G possibly damaging Het
Samd9l T A 6: 3,375,348 (GRCm39) K638* probably null Het
Sema4d A G 13: 51,862,922 (GRCm39) S479P probably damaging Het
Slc12a2 T C 18: 58,037,407 (GRCm39) probably benign Het
Slc47a2 T C 11: 61,194,769 (GRCm39) N470S probably damaging Het
Spag17 C T 3: 99,987,521 (GRCm39) P1604S probably benign Het
Taf8 C A 17: 47,812,290 (GRCm39) V39L probably damaging Het
Tlr11 A G 14: 50,598,941 (GRCm39) E309G probably benign Het
Tmem260 A G 14: 48,724,371 (GRCm39) probably benign Het
Tsc1 A T 2: 28,571,270 (GRCm39) K816M probably damaging Het
Ttc29 A G 8: 79,052,180 (GRCm39) I354V probably benign Het
Ttll3 A T 6: 113,386,158 (GRCm39) N665Y probably damaging Het
Ubr4 A G 4: 139,137,041 (GRCm39) T971A probably benign Het
Vmn2r96 T A 17: 18,803,137 (GRCm39) I349N probably benign Het
Vwa5a A G 9: 38,646,143 (GRCm39) T504A probably benign Het
Ythdf3 T A 3: 16,258,882 (GRCm39) V354E possibly damaging Het
Zan C A 5: 137,474,677 (GRCm39) G13V probably damaging Het
Other mutations in Pde11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Pde11a APN 2 76,045,729 (GRCm39) missense probably damaging 1.00
IGL01528:Pde11a APN 2 76,025,300 (GRCm39) splice site probably benign
IGL02117:Pde11a APN 2 75,821,606 (GRCm39) missense probably damaging 1.00
IGL02428:Pde11a APN 2 75,877,189 (GRCm39) missense possibly damaging 0.68
IGL02455:Pde11a APN 2 75,988,737 (GRCm39) missense possibly damaging 0.58
IGL02731:Pde11a APN 2 75,821,583 (GRCm39) missense probably benign 0.00
IGL03081:Pde11a APN 2 75,906,274 (GRCm39) splice site probably benign
D4186:Pde11a UTSW 2 76,121,634 (GRCm39) missense probably damaging 1.00
R0323:Pde11a UTSW 2 75,877,118 (GRCm39) splice site probably null
R0433:Pde11a UTSW 2 76,168,050 (GRCm39) missense possibly damaging 0.47
R1226:Pde11a UTSW 2 75,988,698 (GRCm39) missense probably benign 0.10
R1542:Pde11a UTSW 2 75,877,199 (GRCm39) missense probably benign 0.25
R1941:Pde11a UTSW 2 76,121,594 (GRCm39) missense probably benign 0.10
R2107:Pde11a UTSW 2 76,168,266 (GRCm39) missense probably damaging 1.00
R2394:Pde11a UTSW 2 75,889,405 (GRCm39) missense probably benign 0.00
R3689:Pde11a UTSW 2 76,121,510 (GRCm39) missense probably damaging 1.00
R3690:Pde11a UTSW 2 76,121,510 (GRCm39) missense probably damaging 1.00
R3945:Pde11a UTSW 2 75,906,275 (GRCm39) splice site probably benign
R4073:Pde11a UTSW 2 76,168,242 (GRCm39) missense probably damaging 1.00
R4074:Pde11a UTSW 2 76,168,242 (GRCm39) missense probably damaging 1.00
R4588:Pde11a UTSW 2 75,859,647 (GRCm39) missense probably damaging 1.00
R4602:Pde11a UTSW 2 75,988,677 (GRCm39) missense probably benign 0.05
R4604:Pde11a UTSW 2 76,168,137 (GRCm39) missense possibly damaging 0.89
R4609:Pde11a UTSW 2 76,121,585 (GRCm39) missense possibly damaging 0.94
R4610:Pde11a UTSW 2 75,988,677 (GRCm39) missense probably benign 0.05
R5017:Pde11a UTSW 2 75,966,711 (GRCm39) missense probably benign 0.05
R5519:Pde11a UTSW 2 75,906,299 (GRCm39) missense probably damaging 1.00
R5930:Pde11a UTSW 2 75,970,175 (GRCm39) splice site probably null
R6000:Pde11a UTSW 2 75,848,204 (GRCm39) missense probably damaging 0.98
R6018:Pde11a UTSW 2 75,848,194 (GRCm39) missense probably benign 0.00
R6913:Pde11a UTSW 2 76,168,084 (GRCm39) missense probably damaging 1.00
R7117:Pde11a UTSW 2 75,906,348 (GRCm39) missense probably damaging 1.00
R7258:Pde11a UTSW 2 75,970,250 (GRCm39) missense possibly damaging 0.91
R7267:Pde11a UTSW 2 76,168,189 (GRCm39) missense probably damaging 1.00
R7409:Pde11a UTSW 2 75,836,328 (GRCm39) missense
R7451:Pde11a UTSW 2 75,853,117 (GRCm39) missense possibly damaging 0.89
R7452:Pde11a UTSW 2 75,966,758 (GRCm39) missense probably damaging 1.00
R7598:Pde11a UTSW 2 75,966,767 (GRCm39) missense probably damaging 1.00
R7671:Pde11a UTSW 2 76,045,697 (GRCm39) missense possibly damaging 0.81
R7886:Pde11a UTSW 2 76,121,547 (GRCm39) missense probably benign
R8045:Pde11a UTSW 2 75,853,072 (GRCm39) missense probably damaging 0.99
R8137:Pde11a UTSW 2 76,041,383 (GRCm39) missense possibly damaging 0.91
R8420:Pde11a UTSW 2 75,889,354 (GRCm39) missense probably damaging 1.00
R8716:Pde11a UTSW 2 75,848,238 (GRCm39) missense probably damaging 0.97
R8730:Pde11a UTSW 2 75,889,334 (GRCm39) missense probably damaging 1.00
R8816:Pde11a UTSW 2 76,121,577 (GRCm39) missense probably benign 0.00
R8869:Pde11a UTSW 2 76,041,434 (GRCm39) missense probably benign 0.02
R9023:Pde11a UTSW 2 75,966,803 (GRCm39) missense probably damaging 1.00
R9202:Pde11a UTSW 2 75,853,077 (GRCm39) nonsense probably null
R9301:Pde11a UTSW 2 75,848,217 (GRCm39) missense probably damaging 1.00
R9470:Pde11a UTSW 2 75,821,612 (GRCm39) missense probably benign
R9570:Pde11a UTSW 2 75,877,157 (GRCm39) missense probably damaging 1.00
R9728:Pde11a UTSW 2 76,121,608 (GRCm39) missense probably damaging 1.00
Z1176:Pde11a UTSW 2 76,025,249 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02