Incidental Mutation 'R7417:Pde4d'
ID 605504
Institutional Source Beutler Lab
Gene Symbol Pde4d
Ensembl Gene ENSMUSG00000021699
Gene Name phosphodiesterase 4D, cAMP specific
Synonyms 9630011N22Rik, dunce, Dpde3
MMRRC Submission 045495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7417 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 108790711-110092503 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 109769322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079975] [ENSMUST00000119507] [ENSMUST00000120671] [ENSMUST00000122041] [ENSMUST00000135275] [ENSMUST00000177907]
AlphaFold Q01063
Predicted Effect probably benign
Transcript: ENSMUST00000079975
SMART Domains Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
HDc 349 524 1.12e-2 SMART
low complexity region 672 687 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119507
SMART Domains Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
HDc 354 529 1.12e-2 SMART
low complexity region 677 692 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120671
SMART Domains Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
low complexity region 45 84 N/A INTRINSIC
HDc 454 629 1.12e-2 SMART
low complexity region 777 792 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122041
SMART Domains Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
HDc 398 573 1.12e-2 SMART
low complexity region 721 736 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000135275
SMART Domains Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
HDc 351 526 1.12e-2 SMART
low complexity region 674 689 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153234
SMART Domains Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
PDB:1E9K|A 22 59 9e-18 PDB
low complexity region 69 85 N/A INTRINSIC
HDc 405 580 1.12e-2 SMART
low complexity region 728 743 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177907
SMART Domains Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
HDc 398 573 1.12e-2 SMART
low complexity region 721 736 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (79/79)
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit delayed growth, female infertility associated with impaired ovulation, and reduced postnatal viability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,460,057 (GRCm39) T213I probably damaging Het
Akr1b7 G A 6: 34,394,300 (GRCm39) probably null Het
Aldh6a1 T C 12: 84,488,556 (GRCm39) Q110R probably benign Het
Alg11 A T 8: 22,552,044 (GRCm39) T63S probably benign Het
Ankrd13b A G 11: 77,367,020 (GRCm39) Y271H probably damaging Het
Ano8 T A 8: 71,933,477 (GRCm39) D605V unknown Het
Best2 C T 8: 85,736,295 (GRCm39) probably null Het
Brca1 A G 11: 101,415,807 (GRCm39) S776P probably damaging Het
Capn7 T C 14: 31,092,663 (GRCm39) Y737H probably damaging Het
Cblc A T 7: 19,522,899 (GRCm39) S333T probably benign Het
Ccm2 T A 11: 6,543,091 (GRCm39) M257K probably benign Het
Cd320 T A 17: 34,066,530 (GRCm39) C103* probably null Het
Cd53 A G 3: 106,676,235 (GRCm39) F44S probably benign Het
Col9a2 G A 4: 120,911,489 (GRCm39) R610H not run Het
Cubn T C 2: 13,431,778 (GRCm39) I1272V probably benign Het
Cyp2j7 C T 4: 96,090,225 (GRCm39) probably null Het
Dmrt2 A T 19: 25,655,962 (GRCm39) R520S probably benign Het
Dnai3 A T 3: 145,798,835 (GRCm39) probably null Het
Drg2 A G 11: 60,345,506 (GRCm39) M1V probably null Het
Ect2 A G 3: 27,152,568 (GRCm39) S908P probably damaging Het
Eipr1 A G 12: 28,916,954 (GRCm39) T341A probably benign Het
Ell3 A C 2: 121,270,891 (GRCm39) I214R probably benign Het
Emsy A T 7: 98,264,693 (GRCm39) L568Q probably damaging Het
Foxd4 T C 19: 24,877,826 (GRCm39) T125A probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Gcsam C A 16: 45,440,240 (GRCm39) H94Q probably damaging Het
Ginm1 T A 10: 7,649,844 (GRCm39) I150F probably damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hk2 G A 6: 82,720,326 (GRCm39) A205V probably damaging Het
Il3ra A T 14: 14,349,345 (GRCm38) H147L probably benign Het
Map3k6 T A 4: 132,975,707 (GRCm39) S732T probably benign Het
Masp2 A G 4: 148,690,178 (GRCm39) E229G probably benign Het
Mccc2 A G 13: 100,108,285 (GRCm39) probably null Het
Mia3 A G 1: 183,108,508 (GRCm39) V359A Het
Mob1a A T 6: 83,309,492 (GRCm39) T80S probably benign Het
Msantd2 G A 9: 37,434,590 (GRCm39) G478S probably damaging Het
Mtf1 A G 4: 124,718,974 (GRCm39) E329G probably null Het
Myh9 T A 15: 77,648,065 (GRCm39) K1804* probably null Het
Ndst3 A G 3: 123,465,313 (GRCm39) W220R probably damaging Het
Nln A G 13: 104,173,478 (GRCm39) L576P probably damaging Het
Nlrc4 A G 17: 74,753,483 (GRCm39) M300T probably benign Het
Obscn G T 11: 59,020,403 (GRCm39) D880E possibly damaging Het
Oprd1 T C 4: 131,844,763 (GRCm39) T82A probably damaging Het
Or2n1d T A 17: 38,646,183 (GRCm39) I45N probably damaging Het
Or4f60 A C 2: 111,902,445 (GRCm39) V161G probably benign Het
Orc3 A G 4: 34,595,136 (GRCm39) C278R probably damaging Het
Pms1 T C 1: 53,236,231 (GRCm39) E683G probably benign Het
Prdm2 A T 4: 142,905,869 (GRCm39) Y73N probably damaging Het
Prkaa2 T C 4: 104,932,740 (GRCm39) Q36R probably benign Het
Psg22 A G 7: 18,456,891 (GRCm39) E258G probably damaging Het
Ptprf T C 4: 118,069,369 (GRCm39) D1566G probably damaging Het
Rfwd3 T A 8: 111,999,701 (GRCm39) Y759F probably benign Het
Ripor2 A G 13: 24,880,533 (GRCm39) D411G probably damaging Het
Ryr2 A C 13: 11,571,634 (GRCm39) probably null Het
Sdr42e1 T C 8: 118,389,490 (GRCm39) T384A probably benign Het
Sec1 A T 7: 45,334,149 (GRCm39) probably null Het
Sec16a A T 2: 26,311,409 (GRCm39) F616I Het
Sipa1l2 T C 8: 126,208,845 (GRCm39) D521G possibly damaging Het
Smc1b T A 15: 84,981,743 (GRCm39) Q759L probably benign Het
Snph A T 2: 151,442,263 (GRCm39) S57R probably damaging Het
Sqor A T 2: 122,629,450 (GRCm39) T103S probably benign Het
Srbd1 A G 17: 86,443,749 (GRCm39) V159A probably benign Het
Srsf2 A T 11: 116,743,727 (GRCm39) V10E probably damaging Het
Swap70 T A 7: 109,863,316 (GRCm39) probably null Het
Synm A C 7: 67,382,954 (GRCm39) *675G probably null Het
Tek A G 4: 94,699,582 (GRCm39) E320G probably benign Het
Tenm3 T C 8: 48,689,218 (GRCm39) D2123G probably damaging Het
Tmod4 A G 3: 95,033,174 (GRCm39) K56R possibly damaging Het
Top3b G A 16: 16,695,714 (GRCm39) probably benign Het
Tssc4 G T 7: 142,624,425 (GRCm39) E244D possibly damaging Het
Twnk G A 19: 44,999,003 (GRCm39) probably null Het
Ube4a A C 9: 44,868,011 (GRCm39) I45S probably benign Het
Unc79 A T 12: 103,055,017 (GRCm39) M954L possibly damaging Het
Vcpip1 A T 1: 9,816,540 (GRCm39) D614E probably benign Het
Vmn1r45 T A 6: 89,910,035 (GRCm39) I312L probably benign Het
Vmn1r77 A G 7: 11,775,611 (GRCm39) Y129C probably damaging Het
Zer1 A G 2: 29,992,834 (GRCm39) L600P probably damaging Het
Zfp266 T C 9: 20,412,232 (GRCm39) T114A probably benign Het
Zrsr2-ps1 T C 11: 22,924,662 (GRCm39) probably null Het
Other mutations in Pde4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Pde4d APN 13 110,073,221 (GRCm39) missense possibly damaging 0.69
IGL00792:Pde4d APN 13 110,071,929 (GRCm39) missense possibly damaging 0.85
IGL01014:Pde4d APN 13 110,086,036 (GRCm39) missense probably damaging 1.00
IGL01660:Pde4d APN 13 110,074,606 (GRCm39) missense probably damaging 1.00
IGL02233:Pde4d APN 13 109,877,084 (GRCm39) missense probably damaging 1.00
IGL02405:Pde4d APN 13 108,996,743 (GRCm39) critical splice donor site probably null
IGL02544:Pde4d APN 13 109,877,057 (GRCm39) missense probably damaging 1.00
IGL02885:Pde4d APN 13 110,084,795 (GRCm39) missense probably damaging 1.00
IGL03286:Pde4d APN 13 110,091,040 (GRCm39) unclassified probably benign
IGL03406:Pde4d APN 13 110,091,125 (GRCm39) unclassified probably benign
Heliosphere UTSW 13 109,253,476 (GRCm39) missense probably benign
Stubbs UTSW 13 109,909,256 (GRCm39) intron probably benign
IGL03055:Pde4d UTSW 13 110,071,879 (GRCm39) missense probably damaging 1.00
R0020:Pde4d UTSW 13 110,091,104 (GRCm39) missense possibly damaging 0.66
R0020:Pde4d UTSW 13 110,091,104 (GRCm39) missense possibly damaging 0.66
R0054:Pde4d UTSW 13 109,876,955 (GRCm39) missense probably benign 0.23
R0054:Pde4d UTSW 13 109,876,955 (GRCm39) missense probably benign 0.23
R0357:Pde4d UTSW 13 110,087,802 (GRCm39) missense possibly damaging 0.46
R0482:Pde4d UTSW 13 110,073,244 (GRCm39) missense probably benign 0.00
R0689:Pde4d UTSW 13 109,877,078 (GRCm39) missense possibly damaging 0.78
R0884:Pde4d UTSW 13 110,087,474 (GRCm39) missense probably damaging 0.99
R1169:Pde4d UTSW 13 110,087,462 (GRCm39) splice site probably null
R1225:Pde4d UTSW 13 110,086,755 (GRCm39) missense probably benign 0.04
R1246:Pde4d UTSW 13 110,087,507 (GRCm39) missense probably damaging 1.00
R1344:Pde4d UTSW 13 110,086,921 (GRCm39) nonsense probably null
R1351:Pde4d UTSW 13 110,087,809 (GRCm39) missense possibly damaging 0.46
R1371:Pde4d UTSW 13 109,253,595 (GRCm39) missense probably benign 0.00
R1418:Pde4d UTSW 13 110,086,921 (GRCm39) nonsense probably null
R2197:Pde4d UTSW 13 110,084,924 (GRCm39) missense probably damaging 1.00
R2440:Pde4d UTSW 13 110,063,731 (GRCm39) intron probably benign
R3114:Pde4d UTSW 13 110,084,792 (GRCm39) missense probably damaging 1.00
R3115:Pde4d UTSW 13 110,084,792 (GRCm39) missense probably damaging 1.00
R3722:Pde4d UTSW 13 110,087,866 (GRCm39) nonsense probably null
R3742:Pde4d UTSW 13 109,877,013 (GRCm39) missense probably benign 0.42
R3797:Pde4d UTSW 13 109,769,431 (GRCm39) missense probably benign 0.29
R3983:Pde4d UTSW 13 109,876,940 (GRCm39) missense probably benign 0.23
R4618:Pde4d UTSW 13 110,070,411 (GRCm39) missense probably benign 0.13
R4768:Pde4d UTSW 13 110,070,408 (GRCm39) missense probably damaging 1.00
R4795:Pde4d UTSW 13 110,074,705 (GRCm39) intron probably benign
R4824:Pde4d UTSW 13 109,253,400 (GRCm39) missense probably benign 0.00
R4942:Pde4d UTSW 13 108,996,733 (GRCm39) missense probably benign 0.00
R4984:Pde4d UTSW 13 109,876,998 (GRCm39) missense probably damaging 1.00
R5180:Pde4d UTSW 13 109,877,007 (GRCm39) missense probably benign 0.13
R5267:Pde4d UTSW 13 109,397,343 (GRCm39) intron probably benign
R5311:Pde4d UTSW 13 109,769,399 (GRCm39) missense probably benign
R5311:Pde4d UTSW 13 109,769,398 (GRCm39) missense probably benign 0.02
R5376:Pde4d UTSW 13 109,909,178 (GRCm39) missense probably benign 0.00
R5551:Pde4d UTSW 13 110,084,930 (GRCm39) critical splice donor site probably null
R5753:Pde4d UTSW 13 109,909,256 (GRCm39) intron probably benign
R5754:Pde4d UTSW 13 110,074,547 (GRCm39) missense probably damaging 0.98
R5838:Pde4d UTSW 13 109,876,976 (GRCm39) missense probably damaging 0.99
R5864:Pde4d UTSW 13 110,074,582 (GRCm39) missense probably benign 0.00
R6039:Pde4d UTSW 13 110,084,876 (GRCm39) missense probably damaging 1.00
R6039:Pde4d UTSW 13 110,084,876 (GRCm39) missense probably damaging 1.00
R6049:Pde4d UTSW 13 109,169,119 (GRCm39) nonsense probably null
R6214:Pde4d UTSW 13 110,085,967 (GRCm39) missense probably damaging 1.00
R6215:Pde4d UTSW 13 110,085,967 (GRCm39) missense probably damaging 1.00
R6273:Pde4d UTSW 13 110,086,755 (GRCm39) missense possibly damaging 0.94
R6431:Pde4d UTSW 13 109,738,320 (GRCm39) splice site probably null
R6501:Pde4d UTSW 13 109,253,476 (GRCm39) missense probably benign
R6534:Pde4d UTSW 13 109,769,435 (GRCm39) missense probably benign 0.05
R6709:Pde4d UTSW 13 110,084,813 (GRCm39) missense probably damaging 1.00
R6722:Pde4d UTSW 13 109,769,432 (GRCm39) nonsense probably null
R7164:Pde4d UTSW 13 109,169,222 (GRCm39) missense probably benign
R7222:Pde4d UTSW 13 109,894,113 (GRCm39) missense probably damaging 1.00
R7489:Pde4d UTSW 13 109,253,301 (GRCm39) missense unknown
R7563:Pde4d UTSW 13 110,087,541 (GRCm39) missense probably benign 0.37
R7861:Pde4d UTSW 13 110,071,858 (GRCm39) missense probably damaging 0.99
R8167:Pde4d UTSW 13 109,578,855 (GRCm39) missense probably benign 0.00
R8197:Pde4d UTSW 13 110,084,870 (GRCm39) missense probably damaging 1.00
R8469:Pde4d UTSW 13 108,996,722 (GRCm39) missense probably benign
R8715:Pde4d UTSW 13 110,071,876 (GRCm39) missense probably benign 0.29
R8926:Pde4d UTSW 13 110,074,625 (GRCm39) missense probably benign 0.00
R9054:Pde4d UTSW 13 110,071,924 (GRCm39) missense probably damaging 0.96
R9406:Pde4d UTSW 13 109,877,064 (GRCm39) missense probably damaging 0.99
R9516:Pde4d UTSW 13 109,397,196 (GRCm39) missense
R9526:Pde4d UTSW 13 110,071,915 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGTCTAGGTGAAGCAAGCG -3'
(R):5'- TACTTGTAAGGGACCTACAGCAG -3'

Sequencing Primer
(F):5'- CTGTCGCAAAGGGCAAGTGTC -3'
(R):5'- GGACCTACAGCAGATAAAAAGGCC -3'
Posted On 2019-12-09