Incidental Mutation 'R1941:Pde11a'
ID 213986
Institutional Source Beutler Lab
Gene Symbol Pde11a
Ensembl Gene ENSMUSG00000075270
Gene Name phosphodiesterase 11A
Synonyms A630086N24Rik, 6330414F14Rik
MMRRC Submission 039959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R1941 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 75819485-76169118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76121594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 329 (R329Q)
Ref Sequence ENSEMBL: ENSMUSP00000097572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099992]
AlphaFold P0C1Q2
Predicted Effect probably benign
Transcript: ENSMUST00000099992
AA Change: R329Q

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: R329Q

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
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.8%
  • 20x: 91.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b A C 7: 101,229,524 (GRCm39) F125C probably damaging Het
Camta1 T C 4: 151,159,612 (GRCm39) Y1616C probably damaging Het
Cep162 T G 9: 87,082,048 (GRCm39) I1286L probably benign Het
Chd9 T A 8: 91,703,697 (GRCm39) probably null Het
Col11a2 T A 17: 34,263,925 (GRCm39) S247T probably benign Het
Col6a4 T G 9: 105,952,209 (GRCm39) D563A probably benign Het
Crebbp C T 16: 3,997,555 (GRCm39) M176I probably benign Het
Cyp4a12b A G 4: 115,295,256 (GRCm39) N454S probably damaging Het
Dhx8 T C 11: 101,643,024 (GRCm39) probably null Het
Dock7 G A 4: 98,872,952 (GRCm39) L1165F probably benign Het
Fam117a A T 11: 95,271,624 (GRCm39) N399Y probably damaging Het
Fmn1 A G 2: 113,195,488 (GRCm39) K396R unknown Het
Foxk1 T A 5: 142,442,429 (GRCm39) V693E possibly damaging Het
Gml A G 15: 74,689,020 (GRCm39) L10P probably damaging Het
Gpx8 A G 13: 113,182,809 (GRCm39) L34P probably damaging Het
Kank2 A G 9: 21,684,162 (GRCm39) L689P possibly damaging Het
Mt4 G A 8: 94,864,874 (GRCm39) C16Y possibly damaging Het
Naa15 C A 3: 51,363,355 (GRCm39) Y346* probably null Het
Ntrk3 C T 7: 77,897,010 (GRCm39) V676I probably damaging Het
Oasl2 G A 5: 115,049,423 (GRCm39) probably benign Het
Or1e1c T A 11: 73,266,447 (GRCm39) F294I probably damaging Het
Or6c215 T A 10: 129,638,281 (GRCm39) M38L probably benign Het
Or6c8 T G 10: 128,915,823 (GRCm39) N3T probably damaging Het
Or7e169 G A 9: 19,757,246 (GRCm39) S223F probably damaging Het
Or7g20 A C 9: 18,947,162 (GRCm39) T248P possibly damaging Het
Otud7a C T 7: 63,379,574 (GRCm39) R273* probably null Het
Pcare T G 17: 72,059,063 (GRCm39) T205P probably damaging Het
Pga5 G T 19: 10,646,820 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,441,528 (GRCm39) probably null Het
Pus10 A G 11: 23,661,198 (GRCm39) Q262R possibly damaging Het
Rbm17 T C 2: 11,593,885 (GRCm39) K241R possibly damaging Het
Rp1l1 T G 14: 64,259,701 (GRCm39) D114E probably damaging Het
Safb T A 17: 56,905,992 (GRCm39) probably benign Het
Sgpl1 T C 10: 60,939,086 (GRCm39) Y371C probably damaging Het
Siglec1 C A 2: 130,920,051 (GRCm39) A827S possibly damaging Het
Smg5 T A 3: 88,252,687 (GRCm39) S158T possibly damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spaca6 A G 17: 18,058,664 (GRCm39) I71V probably benign Het
Spaca6 A G 17: 18,058,692 (GRCm39) E80G probably damaging Het
Steap1 C A 5: 5,790,541 (GRCm39) A136S probably damaging Het
Supv3l1 G C 10: 62,285,391 (GRCm39) P25R probably benign Het
Tex21 T C 12: 76,268,458 (GRCm39) K108R possibly damaging Het
Tnc A G 4: 63,933,201 (GRCm39) Y688H probably damaging Het
Tnr G A 1: 159,677,704 (GRCm39) E30K possibly damaging Het
Tnrc18 G T 5: 142,800,905 (GRCm39) P18T probably damaging Het
Ttk T G 9: 83,735,179 (GRCm39) S422A probably benign Het
Ubap1 A G 4: 41,378,968 (GRCm39) K61E probably damaging Het
Ubr2 C T 17: 47,284,952 (GRCm39) R522H probably damaging Het
Vwf A T 6: 125,616,242 (GRCm39) E1185D possibly damaging Het
Wwp2 A G 8: 108,244,547 (GRCm39) T194A probably benign Het
Zfp36 A G 7: 28,077,071 (GRCm39) V279A probably damaging Het
Zfp870 C A 17: 33,101,778 (GRCm39) R517L possibly 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
IGL03068:Pde11a APN 2 75,848,208 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCTAGGACAGCATAGAGAAAGCTC -3'
(R):5'- TCCCTAAGAATAAAAGCCGGGG -3'

Sequencing Primer
(F):5'- TAGGCTAATCGAAGAACTGCTC -3'
(R):5'- GGAGAGGGGAGCTTTCCTAG -3'
Posted On 2014-07-14