Incidental Mutation 'R7267:Pde11a'
ID 564971
Institutional Source Beutler Lab
Gene Symbol Pde11a
Ensembl Gene ENSMUSG00000075270
Gene Name phosphodiesterase 11A
Synonyms A630086N24Rik, 6330414F14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R7267 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 75819485-76169118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76168189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 255 (S255P)
Ref Sequence ENSEMBL: ENSMUSP00000097572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099992]
AlphaFold P0C1Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000099992
AA Change: S255P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: S255P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,916,205 (GRCm39) I37T probably damaging Het
Ackr2 A G 9: 121,737,874 (GRCm39) Y83C probably damaging Het
Adam19 C T 11: 46,012,403 (GRCm39) Q300* probably null Het
Anxa7 C T 14: 20,519,474 (GRCm39) A115T probably benign Het
Aoc1l3 AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC AGGCCCAGCC 6: 48,964,952 (GRCm39) probably benign Het
Atad2b A T 12: 5,077,105 (GRCm39) R1109* probably null Het
Batf2 A G 19: 6,221,396 (GRCm39) T69A probably benign Het
Best1 A G 19: 9,964,177 (GRCm39) C428R probably benign Het
Birc6 A G 17: 74,892,980 (GRCm39) T973A probably benign Het
Bmp2k C T 5: 97,216,293 (GRCm39) T597I unknown Het
Bmpr1a G A 14: 34,165,836 (GRCm39) P57L possibly damaging Het
Camk2d A T 3: 126,591,379 (GRCm39) H283L possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ces1b C A 8: 93,806,132 (GRCm39) K36N possibly damaging Het
Ces2a T A 8: 105,465,672 (GRCm39) M308K probably benign Het
Ctnnd2 C A 15: 30,683,501 (GRCm39) Q501K probably benign Het
Cyb561d1 T C 3: 108,106,629 (GRCm39) T197A probably benign Het
Dedd2 C A 7: 24,918,391 (GRCm39) A55S probably damaging Het
Dnah2 C T 11: 69,391,643 (GRCm39) R684Q probably damaging Het
Elovl3 A G 19: 46,122,979 (GRCm39) Y185C probably damaging Het
Fgf3 C T 7: 144,392,569 (GRCm39) A42V probably damaging Het
Gabra5 A G 7: 57,140,529 (GRCm39) L56P probably damaging Het
Gm19410 T G 8: 36,281,997 (GRCm39) V1860G possibly damaging Het
Gm21663 G T 5: 26,143,751 (GRCm39) N190K probably damaging Het
Grm3 T A 5: 9,639,581 (GRCm39) I155L probably benign Het
Hadha A G 5: 30,327,755 (GRCm39) I495T probably damaging Het
Herc4 C T 10: 63,109,365 (GRCm39) A200V possibly damaging Het
Itga3 C A 11: 94,967,188 (GRCm39) probably benign Het
Krt6a C T 15: 101,602,289 (GRCm39) S132N probably benign Het
Lpar1 T C 4: 58,486,857 (GRCm39) N138S possibly damaging Het
Lrrc42 T A 4: 107,096,983 (GRCm39) T247S probably damaging Het
Man2b1 T A 8: 85,813,804 (GRCm39) V256E probably damaging Het
Map3k4 G T 17: 12,490,536 (GRCm39) Y298* probably null Het
Mars1 A G 10: 127,144,455 (GRCm39) V195A probably benign Het
Mdm4 A T 1: 132,922,311 (GRCm39) V278E probably benign Het
Mdp1 A G 14: 55,897,544 (GRCm39) V37A probably damaging Het
Med13 A G 11: 86,199,652 (GRCm39) I685T probably benign Het
Mobp A G 9: 119,996,914 (GRCm39) N15S probably damaging Het
Nbn T A 4: 15,979,320 (GRCm39) M435K probably benign Het
Nfs1 A G 2: 155,965,703 (GRCm39) V126A probably benign Het
Npepl1 T A 2: 173,963,909 (GRCm39) V480E probably damaging Het
Nr2e3 G A 9: 59,855,972 (GRCm39) S155F possibly damaging Het
Oplah T C 15: 76,189,209 (GRCm39) D278G probably benign Het
Or4c124 A T 2: 89,156,157 (GRCm39) Y122* probably null Het
Or51q1c A G 7: 103,653,046 (GRCm39) H188R probably benign Het
Pard3 T C 8: 128,098,056 (GRCm39) Y366H probably damaging Het
Pcdhb11 A G 18: 37,555,006 (GRCm39) N112S possibly damaging Het
Piezo1 T C 8: 123,224,268 (GRCm39) H745R Het
Pkn2 A T 3: 142,517,776 (GRCm39) S441T possibly damaging Het
Pld1 A C 3: 28,130,550 (GRCm39) H450P probably damaging Het
Plekhs1 T A 19: 56,459,209 (GRCm39) H22Q probably damaging Het
Prss44 A C 9: 110,645,611 (GRCm39) Y285S probably damaging Het
Qpctl T C 7: 18,878,852 (GRCm39) E249G probably benign Het
Rcsd1 A T 1: 165,491,185 (GRCm39) S50T probably damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scube1 T A 15: 83,505,266 (GRCm39) N496Y probably damaging Het
Skic3 A G 13: 76,328,196 (GRCm39) M1415V probably benign Het
Slc16a8 AGGCC A 15: 79,136,125 (GRCm39) probably null Het
Slc38a4 T A 15: 96,903,781 (GRCm39) T407S probably benign Het
Slc51a T G 16: 32,298,590 (GRCm39) I56L probably benign Het
Slc6a18 T G 13: 73,819,755 (GRCm39) I272L probably damaging Het
Sorl1 A G 9: 42,035,375 (GRCm39) L12P possibly damaging Het
Sycp2l A T 13: 41,300,070 (GRCm39) D428V possibly damaging Het
Syne1 C T 10: 5,178,218 (GRCm39) R4752Q probably damaging Het
Tbc1d9 C A 8: 83,997,957 (GRCm39) H1171Q probably damaging Het
Thsd1 G A 8: 22,733,597 (GRCm39) V215I probably benign Het
Tmem143 T A 7: 45,557,598 (GRCm39) M208K probably benign Het
Tmem63b C T 17: 45,977,048 (GRCm39) V440I probably benign Het
Tnik A T 3: 28,700,776 (GRCm39) S918C probably damaging Het
Ttn A G 2: 76,733,751 (GRCm39) I4508T unknown Het
Vav2 A G 2: 27,173,334 (GRCm39) F497L probably damaging Het
Zc3h14 G A 12: 98,751,988 (GRCm39) R730Q probably damaging Het
Zfp560 G A 9: 20,259,384 (GRCm39) H493Y 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
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
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'- TCCTGGTGGTCAAAGGATGAG -3'
(R):5'- GGCCATCGACTACAAATGCC -3'

Sequencing Primer
(F):5'- GCTGCCAAGCCAGTGGG -3'
(R):5'- TCGACTACAAATGCCACCTC -3'
Posted On 2019-06-26