Incidental Mutation 'R7671:Pde11a'
ID 592142
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: 0.127) question?
Stock # R7671 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 75989141-76338774 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76215353 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 376 (F376I)
Ref Sequence ENSEMBL: ENSMUSP00000097572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099992]
AlphaFold P0C1Q2
Predicted Effect possibly damaging
Transcript: ENSMUST00000099992
AA Change: F376I

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097572
Gene: ENSMUSG00000075270
AA Change: F376I

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
SMART Domains Protein: ENSMUSP00000115662
Gene: ENSMUSG00000075270
AA Change: F14I

DomainStartEndE-ValueType
GAF 41 207 9.16e-19 SMART
HDc 269 438 2.04e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 C A 7: 75,569,900 (GRCm38) T17K probably damaging Het
Ankrd29 T A 18: 12,260,986 (GRCm38) K257I probably damaging Het
Bicc1 A G 10: 70,957,167 (GRCm38) L219P probably benign Het
Bltp1 T C 3: 36,943,231 (GRCm38) F1146L probably damaging Het
Boc C T 16: 44,491,849 (GRCm38) V617M Het
Ccl8 A G 11: 82,115,207 (GRCm38) probably benign Het
Col18a1 A G 10: 77,085,383 (GRCm38) L261P unknown Het
Col5a3 T A 9: 20,775,086 (GRCm38) probably null Het
Cryba4 A C 5: 112,248,173 (GRCm38) probably null Het
Csf2rb A G 15: 78,338,930 (GRCm38) Y114C probably damaging Het
Ctif T C 18: 75,472,016 (GRCm38) D484G probably damaging Het
Ctnnal1 A G 4: 56,837,848 (GRCm38) F261L probably damaging Het
Defb22 A T 2: 152,486,030 (GRCm38) N78K unknown Het
Dele1 T A 18: 38,259,925 (GRCm38) I394N probably damaging Het
Efr3a G A 15: 65,837,434 (GRCm38) probably null Het
Elp4 G T 2: 105,904,481 (GRCm38) A3E probably damaging Het
Emilin2 A G 17: 71,273,910 (GRCm38) V607A probably benign Het
Epsti1 A G 14: 77,904,490 (GRCm38) Y2C probably damaging Het
Fam81b G T 13: 76,271,294 (GRCm38) L46I possibly damaging Het
Fam81b A C 13: 76,271,293 (GRCm38) L46R probably damaging Het
Fbxo15 T A 18: 84,964,153 (GRCm38) H288Q probably damaging Het
Gabrg1 T A 5: 70,815,980 (GRCm38) N77I probably damaging Het
Ganab A G 19: 8,912,852 (GRCm38) Y715C possibly damaging Het
Hist3h2ba T C 11: 58,949,276 (GRCm38) S113P possibly damaging Het
Iqgap2 T C 13: 95,628,119 (GRCm38) D1539G probably damaging Het
Kcp T C 6: 29,496,517 (GRCm38) N633S probably benign Het
Krt6a C A 15: 101,690,543 (GRCm38) S529I unknown Het
Leo1 A G 9: 75,445,562 (GRCm38) H129R probably benign Het
Lmf1 G A 17: 25,579,349 (GRCm38) V55M possibly damaging Het
Mcm9 A G 10: 53,537,569 (GRCm38) S472P probably benign Het
Med27 T A 2: 29,377,938 (GRCm38) V33D Het
Mgat4f T C 1: 134,390,062 (GRCm38) C191R probably benign Het
Mup15 C T 4: 61,438,289 (GRCm38) E80K probably benign Het
Myo18a G A 11: 77,859,420 (GRCm38) R199H Het
Nebl T A 2: 17,390,916 (GRCm38) R558* probably null Het
Or10ak8 A T 4: 118,916,986 (GRCm38) H160Q probably benign Het
Or11g7 G T 14: 50,453,885 (GRCm38) V278L probably benign Het
Or12e9 A G 2: 87,372,269 (GRCm38) T246A probably damaging Het
Or4a79 A T 2: 89,721,259 (GRCm38) I284K probably damaging Het
Or5p78 T C 7: 108,612,991 (GRCm38) I228T probably damaging Het
Or6c217 T C 10: 129,902,353 (GRCm38) D119G probably damaging Het
Or8b41 A T 9: 38,143,440 (GRCm38) M97L probably benign Het
Prima1 A T 12: 103,235,661 (GRCm38) C52S probably damaging Het
Pxn G A 5: 115,548,547 (GRCm38) R366H not run Het
Sgce T C 6: 4,691,564 (GRCm38) Y337C probably damaging Het
Slc25a10 T A 11: 120,495,460 (GRCm38) M130K probably benign Het
Slc29a2 A T 19: 5,024,262 (GRCm38) N5I probably benign Het
Slc35a1 A T 4: 34,673,875 (GRCm38) H150Q Het
Slc5a4a T A 10: 76,147,550 (GRCm38) V7D unknown Het
Stk17b T A 1: 53,766,000 (GRCm38) D134V probably damaging Het
Tex55 C T 16: 38,828,091 (GRCm38) D219N possibly damaging Het
Thbs3 T A 3: 89,216,707 (GRCm38) S36T probably benign Het
Thsd4 A G 9: 60,428,174 (GRCm38) S152P probably benign Het
Tmem67 G T 4: 12,063,698 (GRCm38) H422N probably benign Het
Tram1 C A 1: 13,589,644 (GRCm38) V27F probably damaging Het
Trim14 A G 4: 46,507,238 (GRCm38) V326A possibly damaging Het
Other mutations in Pde11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Pde11a APN 2 76,215,385 (GRCm38) missense probably damaging 1.00
IGL01528:Pde11a APN 2 76,194,956 (GRCm38) splice site probably benign
IGL02117:Pde11a APN 2 75,991,262 (GRCm38) missense probably damaging 1.00
IGL02428:Pde11a APN 2 76,046,845 (GRCm38) missense possibly damaging 0.68
IGL02455:Pde11a APN 2 76,158,393 (GRCm38) missense possibly damaging 0.58
IGL02731:Pde11a APN 2 75,991,239 (GRCm38) missense probably benign 0.00
IGL03068:Pde11a APN 2 76,017,864 (GRCm38) missense probably damaging 1.00
IGL03081:Pde11a APN 2 76,075,930 (GRCm38) splice site probably benign
D4186:Pde11a UTSW 2 76,291,290 (GRCm38) missense probably damaging 1.00
R0323:Pde11a UTSW 2 76,046,774 (GRCm38) splice site probably null
R0433:Pde11a UTSW 2 76,337,706 (GRCm38) missense possibly damaging 0.47
R1226:Pde11a UTSW 2 76,158,354 (GRCm38) missense probably benign 0.10
R1542:Pde11a UTSW 2 76,046,855 (GRCm38) missense probably benign 0.25
R1941:Pde11a UTSW 2 76,291,250 (GRCm38) missense probably benign 0.10
R2107:Pde11a UTSW 2 76,337,922 (GRCm38) missense probably damaging 1.00
R2394:Pde11a UTSW 2 76,059,061 (GRCm38) missense probably benign 0.00
R3689:Pde11a UTSW 2 76,291,166 (GRCm38) missense probably damaging 1.00
R3690:Pde11a UTSW 2 76,291,166 (GRCm38) missense probably damaging 1.00
R3945:Pde11a UTSW 2 76,075,931 (GRCm38) splice site probably benign
R4073:Pde11a UTSW 2 76,337,898 (GRCm38) missense probably damaging 1.00
R4074:Pde11a UTSW 2 76,337,898 (GRCm38) missense probably damaging 1.00
R4588:Pde11a UTSW 2 76,029,303 (GRCm38) missense probably damaging 1.00
R4602:Pde11a UTSW 2 76,158,333 (GRCm38) missense probably benign 0.05
R4604:Pde11a UTSW 2 76,337,793 (GRCm38) missense possibly damaging 0.89
R4609:Pde11a UTSW 2 76,291,241 (GRCm38) missense possibly damaging 0.94
R4610:Pde11a UTSW 2 76,158,333 (GRCm38) missense probably benign 0.05
R5017:Pde11a UTSW 2 76,136,367 (GRCm38) missense probably benign 0.05
R5519:Pde11a UTSW 2 76,075,955 (GRCm38) missense probably damaging 1.00
R5930:Pde11a UTSW 2 76,139,831 (GRCm38) splice site probably null
R6000:Pde11a UTSW 2 76,017,860 (GRCm38) missense probably damaging 0.98
R6018:Pde11a UTSW 2 76,017,850 (GRCm38) missense probably benign 0.00
R6913:Pde11a UTSW 2 76,337,740 (GRCm38) missense probably damaging 1.00
R7117:Pde11a UTSW 2 76,076,004 (GRCm38) missense probably damaging 1.00
R7258:Pde11a UTSW 2 76,139,906 (GRCm38) missense possibly damaging 0.91
R7267:Pde11a UTSW 2 76,337,845 (GRCm38) missense probably damaging 1.00
R7409:Pde11a UTSW 2 76,005,984 (GRCm38) missense
R7451:Pde11a UTSW 2 76,022,773 (GRCm38) missense possibly damaging 0.89
R7452:Pde11a UTSW 2 76,136,414 (GRCm38) missense probably damaging 1.00
R7598:Pde11a UTSW 2 76,136,423 (GRCm38) missense probably damaging 1.00
R7886:Pde11a UTSW 2 76,291,203 (GRCm38) missense probably benign
R8045:Pde11a UTSW 2 76,022,728 (GRCm38) missense probably damaging 0.99
R8137:Pde11a UTSW 2 76,211,039 (GRCm38) missense possibly damaging 0.91
R8420:Pde11a UTSW 2 76,059,010 (GRCm38) missense probably damaging 1.00
R8716:Pde11a UTSW 2 76,017,894 (GRCm38) missense probably damaging 0.97
R8730:Pde11a UTSW 2 76,058,990 (GRCm38) missense probably damaging 1.00
R8816:Pde11a UTSW 2 76,291,233 (GRCm38) missense probably benign 0.00
R8869:Pde11a UTSW 2 76,211,090 (GRCm38) missense probably benign 0.02
R9023:Pde11a UTSW 2 76,136,459 (GRCm38) missense probably damaging 1.00
R9202:Pde11a UTSW 2 76,022,733 (GRCm38) nonsense probably null
R9301:Pde11a UTSW 2 76,017,873 (GRCm38) missense probably damaging 1.00
R9470:Pde11a UTSW 2 75,991,268 (GRCm38) missense probably benign
R9570:Pde11a UTSW 2 76,046,813 (GRCm38) missense probably damaging 1.00
R9728:Pde11a UTSW 2 76,291,264 (GRCm38) missense probably damaging 1.00
Z1176:Pde11a UTSW 2 76,194,905 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACAGTATAGACGTGGGTTGATTTCC -3'
(R):5'- AACAACTCAACGTCTGGCTC -3'

Sequencing Primer
(F):5'- GCATTGTTTAAAGGGATCTTCAGCCC -3'
(R):5'- CAACGTCTGGCTCATTCGATTGAAAG -3'
Posted On 2019-11-12