Incidental Mutation 'R6018:Pde11a'
ID 478694
Institutional Source Beutler Lab
Gene Symbol Pde11a
Ensembl Gene ENSMUSG00000075270
Gene Name phosphodiesterase 11A
Synonyms A630086N24Rik, 6330414F14Rik
MMRRC Submission 044192-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R6018 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 75819485-76169118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75848194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 878 (M878L)
Ref Sequence ENSEMBL: ENSMUSP00000097572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099992]
AlphaFold P0C1Q2
Predicted Effect probably benign
Transcript: ENSMUST00000099992
AA Change: M878L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: M878L

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,448 (GRCm39) Y155N probably damaging Het
1700019A02Rik C T 1: 53,202,405 (GRCm39) probably null Het
2310022B05Rik A G 8: 125,365,853 (GRCm39) F297L probably benign Het
Acbd3 T C 1: 180,579,903 (GRCm39) S516P possibly damaging Het
Agbl3 A G 6: 34,776,190 (GRCm39) N227S probably damaging Het
Ak6 C T 13: 100,802,459 (GRCm39) Q151* probably null Het
Ano4 A G 10: 88,865,128 (GRCm39) L297P probably benign Het
Anxa5 T C 3: 36,504,807 (GRCm39) T252A probably benign Het
Ap5s1 G A 2: 131,054,915 (GRCm39) W212* probably null Het
Arl9 A G 5: 77,155,253 (GRCm39) Q113R probably damaging Het
Atg2b T C 12: 105,627,430 (GRCm39) H519R probably damaging Het
Atp1a2 A G 1: 172,125,579 (GRCm39) probably benign Het
Atp2b1 G A 10: 98,846,622 (GRCm39) A808T probably damaging Het
Bckdhb C A 9: 83,951,237 (GRCm39) T342K probably benign Het
Bdp1 T C 13: 100,174,732 (GRCm39) H1996R probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Ccdc180 A G 4: 45,926,235 (GRCm39) I1148M probably damaging Het
Csf3r T A 4: 125,937,414 (GRCm39) M766K probably benign Het
Ctnnd1 T A 2: 84,480,812 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,436 (GRCm39) N41I probably damaging Het
D2hgdh G T 1: 93,754,182 (GRCm39) V52L probably benign Het
Dppa4 T A 16: 48,109,490 (GRCm39) Y77* probably null Het
Eif4enif1 T C 11: 3,192,481 (GRCm39) S770P probably damaging Het
Fbxl16 A T 17: 26,036,709 (GRCm39) D230V probably damaging Het
Gm4847 G A 1: 166,471,017 (GRCm39) A11V probably damaging Het
Gm9978 C T 10: 78,322,915 (GRCm39) noncoding transcript Het
Gpatch8 A G 11: 102,371,741 (GRCm39) L599P unknown Het
Hdac4 A G 1: 91,886,120 (GRCm39) L254P probably damaging Het
Heatr1 A G 13: 12,419,828 (GRCm39) I384V probably benign Het
Heatr1 A T 13: 12,420,939 (GRCm39) Q410L probably benign Het
Hmcn2 A G 2: 31,260,804 (GRCm39) I1065V probably benign Het
Igkv6-14 A G 6: 70,412,024 (GRCm39) S87P probably damaging Het
Il2rb G T 15: 78,366,266 (GRCm39) Q344K possibly damaging Het
Ipo4 A G 14: 55,863,609 (GRCm39) probably null Het
Ipo9 A G 1: 135,318,274 (GRCm39) probably null Het
Khdrbs1 T C 4: 129,613,887 (GRCm39) T374A probably benign Het
Lamc3 G T 2: 31,795,724 (GRCm39) G370W probably damaging Het
Lipn T A 19: 34,054,335 (GRCm39) L191Q probably damaging Het
Lpl T C 8: 69,353,940 (GRCm39) V427A probably benign Het
Magi3 T C 3: 104,013,128 (GRCm39) S120G probably damaging Het
Mgl2 T C 11: 70,027,937 (GRCm39) *382Q probably null Het
Nab2 G A 10: 127,500,793 (GRCm39) Q100* probably null Het
Nfat5 T A 8: 108,082,283 (GRCm39) probably null Het
Nqo1 T C 8: 108,115,500 (GRCm39) H259R probably damaging Het
Nrdc T A 4: 108,870,944 (GRCm39) D190E probably benign Het
Or5m5 T A 2: 85,815,148 (GRCm39) probably benign Het
Osmr G A 15: 6,845,276 (GRCm39) P830L probably damaging Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Pik3ap1 T C 19: 41,373,455 (GRCm39) probably benign Het
Pla2g3 T C 11: 3,441,916 (GRCm39) L360P probably damaging Het
Plxnc1 A G 10: 94,779,710 (GRCm39) V244A probably benign Het
Pramel16 C T 4: 143,677,469 (GRCm39) A37T possibly damaging Het
Ptpra T C 2: 130,345,422 (GRCm39) V8A probably benign Het
Rbbp5 T C 1: 132,422,078 (GRCm39) V199A probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rp1 A G 1: 4,423,059 (GRCm39) V7A possibly damaging Het
Sdk2 T C 11: 113,720,889 (GRCm39) T1347A probably benign Het
Sgo2a T A 1: 58,056,118 (GRCm39) H767Q probably benign Het
Sis G A 3: 72,820,525 (GRCm39) P1413L possibly damaging Het
Slc22a5 G T 11: 53,766,846 (GRCm39) A214E probably damaging Het
Snx13 G T 12: 35,097,318 (GRCm39) probably benign Het
Sun5 T A 2: 153,700,363 (GRCm39) I295F probably damaging Het
Themis3 C T 17: 66,900,204 (GRCm39) A55T probably damaging Het
Tmem255b T C 8: 13,505,138 (GRCm39) Y148H probably benign Het
Tmem74b A G 2: 151,548,639 (GRCm39) E122G probably damaging Het
Top3b T C 16: 16,710,756 (GRCm39) V862A probably damaging Het
Trim35 A T 14: 66,546,199 (GRCm39) D322V probably damaging Het
Trpm2 A G 10: 77,753,547 (GRCm39) F1319S probably benign Het
Ttn T A 2: 76,785,020 (GRCm39) R756S probably benign Het
Vmn2r108 A T 17: 20,683,268 (GRCm39) N645K possibly damaging Het
Vmn2r73 A G 7: 85,521,875 (GRCm39) S155P possibly damaging Het
Vstm4 G A 14: 32,585,627 (GRCm39) A65T probably benign 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
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
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'- TGAGGCCATGGAGCTTACAG -3'
(R):5'- TGAGGACCGGGATTTGTGAAATATC -3'

Sequencing Primer
(F):5'- CCATGGAGCTTACAGTTTAGAAAGC -3'
(R):5'- CCGGGATTTGTGAAATATCCCATTG -3'
Posted On 2017-06-26