Incidental Mutation 'IGL00839:Pde11a'
ID12952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde11a
Ensembl Gene ENSMUSG00000075270
Gene Namephosphodiesterase 11A
SynonymsA630086N24Rik, 6330414F14Rik
Accession Numbers

Genbank: NM_001081033; MGI: 3036251

Is this an essential gene? Probably non essential (E-score: 0.228) question?
Stock #IGL00839
Quality Score
Status
Chromosome2
Chromosomal Location75989141-76338774 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76215385 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 365 (F365S)
Ref Sequence ENSEMBL: ENSMUSP00000097572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099992]
Predicted Effect probably damaging
Transcript: ENSMUST00000099992
AA Change: F365S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: F365S

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
Predicted Effect unknown
Transcript: ENSMUST00000144892
AA Change: F3S
SMART Domains Protein: ENSMUSP00000115662
Gene: ENSMUSG00000075270
AA Change: F3S

DomainStartEndE-ValueType
GAF 41 207 9.16e-19 SMART
HDc 269 438 2.04e-5 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,660,916 S1031T probably benign Het
a T A 2: 155,045,673 F18I probably benign Het
Acsl4 A T X: 142,339,952 N421K possibly damaging Het
Ampd1 A G 3: 103,099,694 E745G possibly damaging Het
Ankrd44 T C 1: 54,667,435 N436D probably benign Het
Ap1s2 A G X: 163,926,955 Y160C probably damaging Het
Bms1 C T 6: 118,405,291 V429M probably benign Het
Cep57l1 T C 10: 41,731,093 E158G probably damaging Het
Cldn34b4 T A X: 76,397,349 C71S probably damaging Het
Col1a2 C T 6: 4,531,095 probably benign Het
Crisp3 T G 17: 40,239,256 probably null Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Defa24 T A 8: 21,734,697 L54H probably damaging Het
Dennd1a A G 2: 37,816,982 V504A probably benign Het
Eloa G A 4: 136,011,359 R97C probably damaging Het
Espl1 T C 15: 102,320,547 probably benign Het
Fgb T A 3: 83,043,291 R385S possibly damaging Het
Glod4 T A 11: 76,233,278 H223L probably benign Het
Gm13084 T C 4: 143,812,723 T67A probably benign Het
Hrh1 C T 6: 114,480,322 T188I probably damaging Het
Hsph1 G T 5: 149,618,454 A769D possibly damaging Het
Jak2 C T 19: 29,301,647 P933S probably damaging Het
Lrrd1 T A 5: 3,850,017 D107E probably benign Het
Osbpl8 T A 10: 111,291,510 S776R probably benign Het
Pcna C T 2: 132,251,420 V136I probably benign Het
Pi15 A G 1: 17,621,523 H183R probably damaging Het
Plce1 A G 19: 38,698,562 Y638C probably damaging Het
Pnpla6 A G 8: 3,542,299 D1196G probably benign Het
Psg22 A G 7: 18,722,968 I220V probably benign Het
Rap1gap2 A T 11: 74,437,448 Y97N probably damaging Het
Taf2 A T 15: 55,045,778 C690* probably null Het
Taf3 A T 2: 9,952,917 D146E probably damaging Het
Tnrc6c A G 11: 117,714,185 T49A possibly damaging Het
Trdn T C 10: 33,471,606 probably null Het
Ttc29 C T 8: 78,333,756 T435I probably benign Het
Vps37b T C 5: 124,010,751 T74A possibly damaging Het
Zbtb11 T A 16: 56,000,602 Y687* probably null Het
Other mutations in Pde11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Pde11a APN 2 76194956 splice site probably benign
IGL02117:Pde11a APN 2 75991262 missense probably damaging 1.00
IGL02428:Pde11a APN 2 76046845 missense possibly damaging 0.68
IGL02455:Pde11a APN 2 76158393 missense possibly damaging 0.58
IGL02731:Pde11a APN 2 75991239 missense probably benign 0.00
IGL03068:Pde11a APN 2 76017864 missense probably damaging 1.00
IGL03081:Pde11a APN 2 76075930 splice site probably benign
D4186:Pde11a UTSW 2 76291290 missense probably damaging 1.00
R0323:Pde11a UTSW 2 76046774 splice site probably null
R0433:Pde11a UTSW 2 76337706 missense possibly damaging 0.47
R1226:Pde11a UTSW 2 76158354 missense probably benign 0.10
R1542:Pde11a UTSW 2 76046855 missense probably benign 0.25
R1941:Pde11a UTSW 2 76291250 missense probably benign 0.10
R2107:Pde11a UTSW 2 76337922 missense probably damaging 1.00
R2394:Pde11a UTSW 2 76059061 missense probably benign 0.00
R3689:Pde11a UTSW 2 76291166 missense probably damaging 1.00
R3690:Pde11a UTSW 2 76291166 missense probably damaging 1.00
R3945:Pde11a UTSW 2 76075931 splice site probably benign
R4073:Pde11a UTSW 2 76337898 missense probably damaging 1.00
R4074:Pde11a UTSW 2 76337898 missense probably damaging 1.00
R4588:Pde11a UTSW 2 76029303 missense probably damaging 1.00
R4602:Pde11a UTSW 2 76158333 missense probably benign 0.05
R4604:Pde11a UTSW 2 76337793 missense possibly damaging 0.89
R4609:Pde11a UTSW 2 76291241 missense possibly damaging 0.94
R4610:Pde11a UTSW 2 76158333 missense probably benign 0.05
R5017:Pde11a UTSW 2 76136367 missense probably benign 0.05
R5519:Pde11a UTSW 2 76075955 missense probably damaging 1.00
R5930:Pde11a UTSW 2 76139831 splice site probably null
R6000:Pde11a UTSW 2 76017860 missense probably damaging 0.98
R6018:Pde11a UTSW 2 76017850 missense probably benign 0.00
R6913:Pde11a UTSW 2 76337740 missense probably damaging 1.00
R7117:Pde11a UTSW 2 76076004 missense probably damaging 1.00
R7258:Pde11a UTSW 2 76139906 missense possibly damaging 0.91
R7267:Pde11a UTSW 2 76337845 missense probably damaging 1.00
R7409:Pde11a UTSW 2 76005984 missense
R7451:Pde11a UTSW 2 76022773 missense possibly damaging 0.89
R7452:Pde11a UTSW 2 76136414 missense probably damaging 1.00
R7598:Pde11a UTSW 2 76136423 missense probably damaging 1.00
R7671:Pde11a UTSW 2 76215353 missense possibly damaging 0.81
R7886:Pde11a UTSW 2 76291203 missense probably benign
R7969:Pde11a UTSW 2 76291203 missense probably benign
R8045:Pde11a UTSW 2 76022728 missense probably damaging 0.99
Z1176:Pde11a UTSW 2 76194905 missense probably benign 0.01
Posted On2012-12-06