Incidental Mutation 'IGL02455:Pde11a'
ID293818
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? Possibly non essential (E-score: 0.307) question?
Stock #IGL02455
Quality Score
Status
Chromosome2
Chromosomal Location75989141-76338774 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 76158393 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 468 (D468G)
Ref Sequence ENSEMBL: ENSMUSP00000097572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099992]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099992
AA Change: D468G

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: D468G

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: D106G
SMART Domains Protein: ENSMUSP00000115662
Gene: ENSMUSG00000075270
AA Change: D106G

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 35,960,129 V479A probably damaging Het
Adam18 T C 8: 24,651,848 D235G probably damaging Het
Cdh22 T C 2: 165,142,255 N359S possibly damaging Het
Cebpz G T 17: 78,935,036 N396K probably benign Het
Celsr3 T A 9: 108,842,893 W2493R probably benign Het
Clca2 C T 3: 145,081,411 V500M probably benign Het
Clec4a4 A C 6: 123,013,780 N160H possibly damaging Het
Crb2 T C 2: 37,794,564 S1139P possibly damaging Het
Dnah8 T C 17: 30,672,334 I771T probably damaging Het
Etfbkmt C T 6: 149,147,226 A121V probably damaging Het
Fat4 T A 3: 38,951,131 L1893Q possibly damaging Het
Fbxw13 A T 9: 109,183,187 S188T probably benign Het
Fign T C 2: 63,980,497 D143G probably benign Het
Foxj3 C A 4: 119,620,237 H381N unknown Het
Gpr158 A T 2: 21,368,700 T149S probably benign Het
Ift74 C T 4: 94,635,831 Q195* probably null Het
Kif2c C A 4: 117,172,354 M143I probably benign Het
Kmt2b A G 7: 30,578,878 probably null Het
Krt84 C T 15: 101,525,735 R599H unknown Het
Ly6g6f C T 17: 35,082,890 R196H possibly damaging Het
Map4 C A 9: 109,999,833 N95K probably benign Het
Mrgprx3-ps T A 7: 47,309,515 noncoding transcript Het
Mroh9 T C 1: 163,075,580 M85V probably benign Het
Npffr2 T C 5: 89,568,135 I107T probably damaging Het
Nrcam T C 12: 44,570,530 V737A probably damaging Het
Olfr1141 A T 2: 87,753,583 S137T possibly damaging Het
Olfr851 C T 9: 19,497,263 Q172* probably null Het
Olfr976 T C 9: 39,956,902 E11G probably damaging Het
Oprm1 A G 10: 6,830,219 T294A probably damaging Het
Parvg A G 15: 84,330,082 R156G possibly damaging Het
Pclo T C 5: 14,540,175 S830P unknown Het
Peak1 A T 9: 56,227,473 S195T possibly damaging Het
Pkhd1 A G 1: 20,364,201 Y2338H probably damaging Het
Ppp1r1b A T 11: 98,350,569 I28F probably damaging Het
Prpf8 A G 11: 75,509,258 Y2326C probably benign Het
Psmd1 T A 1: 86,078,580 L223I probably damaging Het
Runx3 T A 4: 135,175,530 Y310N probably damaging Het
Secisbp2l C T 2: 125,773,478 D76N possibly damaging Het
Slfn4 A T 11: 83,186,758 N124I probably damaging Het
Spata13 G A 14: 60,706,714 V519I probably benign Het
Ssh3 C T 19: 4,264,432 E365K probably damaging Het
Strc A G 2: 121,375,791 probably benign Het
Tdp2 T A 13: 24,841,262 I338N probably damaging Het
Vmn1r13 A T 6: 57,210,472 R205S probably damaging Het
Wdr19 G T 5: 65,224,759 A441S probably benign Het
Ylpm1 A G 12: 85,030,263 D796G probably damaging Het
Zbtb11 T C 16: 56,000,675 S712P probably damaging Het
Zcchc14 A G 8: 121,606,270 probably benign Het
Zfp608 T G 18: 54,899,333 S512R probably damaging Het
Other mutations in Pde11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Pde11a APN 2 76215385 missense probably damaging 1.00
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
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 On2015-04-16