Incidental Mutation 'R5519:Pde11a'
ID 431446
Institutional Source Beutler Lab
Gene Symbol Pde11a
Ensembl Gene ENSMUSG00000075270
Gene Name phosphodiesterase 11A
Synonyms A630086N24Rik, 6330414F14Rik
MMRRC Submission 043078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R5519 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 75819485-76169118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75906299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 639 (K639N)
Ref Sequence ENSEMBL: ENSMUSP00000097572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099992]
AlphaFold P0C1Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000099992
AA Change: K639N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: K639N

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: K246N
SMART Domains Protein: ENSMUSP00000115662
Gene: ENSMUSG00000075270
AA Change: K246N

DomainStartEndE-ValueType
GAF 41 207 9.16e-19 SMART
HDc 269 438 2.04e-5 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 94.7%
  • 20x: 88.5%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,729,621 (GRCm39) V99A possibly damaging Het
2510009E07Rik A G 16: 21,472,218 (GRCm39) S91P probably benign Het
2810021J22Rik G A 11: 58,770,923 (GRCm39) S135N probably benign Het
A530084C06Rik T C 13: 31,742,702 (GRCm39) probably benign Het
Acadsb T C 7: 131,031,694 (GRCm39) S177P probably damaging Het
Acp3 C A 9: 104,168,687 (GRCm39) G393W probably damaging Het
Axl G A 7: 25,478,087 (GRCm39) A204V possibly damaging Het
Birc6 A T 17: 74,887,173 (GRCm39) M806L probably benign Het
Cacna1i T C 15: 80,255,700 (GRCm39) L861P probably damaging Het
Cfap44 A T 16: 44,224,451 (GRCm39) D53V probably damaging Het
Col9a1 G A 1: 24,269,335 (GRCm39) probably null Het
Ctf2 T A 7: 127,318,463 (GRCm39) I179L probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Emilin2 G A 17: 71,559,930 (GRCm39) P1016S probably benign Het
Gm12790 G A 4: 101,824,888 (GRCm39) P127S probably benign Het
Gsap T A 5: 21,494,857 (GRCm39) V24E probably damaging Het
Ipp T C 4: 116,367,964 (GRCm39) F66L possibly damaging Het
Jakmip3 T C 7: 138,609,520 (GRCm39) I208T probably damaging Het
Med30 G T 15: 52,584,462 (GRCm39) D127Y probably damaging Het
Mosmo C T 7: 120,329,733 (GRCm39) P118L probably benign Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or51a42 G A 7: 103,708,504 (GRCm39) Q102* probably null Het
Padi2 A G 4: 140,676,533 (GRCm39) D557G probably damaging Het
Pspc1 T C 14: 57,009,413 (GRCm39) I140M probably benign Het
Rundc3a A T 11: 102,292,857 (GRCm39) I417F probably benign Het
Scn1a T A 2: 66,162,557 (GRCm39) I230F probably damaging Het
Serpinb3b A G 1: 107,087,506 (GRCm39) M1T probably null Het
Sin3a T C 9: 57,025,457 (GRCm39) probably null Het
St8sia1 T C 6: 142,909,287 (GRCm39) N70D probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tpm2 T G 4: 43,522,751 (GRCm39) D55A possibly damaging Het
Trdv1 T A 14: 54,119,405 (GRCm39) M22K probably benign Het
Zc3h4 A T 7: 16,169,157 (GRCm39) T1089S unknown Het
Zfp518b G A 5: 38,831,441 (GRCm39) T188M probably damaging Het
Zfp74 G T 7: 29,634,559 (GRCm39) A383D 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
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
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
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'- CACCCTGCAGGATTCTCATG -3'
(R):5'- AGGGCTGTGTAAAGCTAGTG -3'

Sequencing Primer
(F):5'- TGACACTTTCATGGCATCCACAAG -3'
(R):5'- TCAGAACTGACCATTGGTGAC -3'
Posted On 2016-10-05