Incidental Mutation 'R4795:Pde4d'
ID 368970
Institutional Source Beutler Lab
Gene Symbol Pde4d
Ensembl Gene ENSMUSG00000021699
Gene Name phosphodiesterase 4D, cAMP specific
Synonyms 9630011N22Rik, dunce, Dpde3
MMRRC Submission 041996-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4795 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 108790711-110092503 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 110074705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074103] [ENSMUST00000079975] [ENSMUST00000117420] [ENSMUST00000117879] [ENSMUST00000119507] [ENSMUST00000119672] [ENSMUST00000120664] [ENSMUST00000120671] [ENSMUST00000177907] [ENSMUST00000122041] [ENSMUST00000135275]
AlphaFold Q01063
Predicted Effect probably benign
Transcript: ENSMUST00000074103
SMART Domains Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
HDc 329 504 1.12e-2 SMART
low complexity region 652 667 N/A INTRINSIC
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: ENSMUST00000117420
SMART Domains Protein: ENSMUSP00000113610
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
HDc 168 343 1.12e-2 SMART
low complexity region 491 506 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117879
SMART Domains Protein: ENSMUSP00000112774
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
HDc 155 330 1.12e-2 SMART
low complexity region 478 493 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: ENSMUST00000119672
Predicted Effect probably benign
Transcript: ENSMUST00000120664
SMART Domains Protein: ENSMUSP00000113024
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
HDc 235 410 1.12e-2 SMART
low complexity region 558 573 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151429
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: ENSMUST00000177907
SMART Domains Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
HDc 398 573 1.12e-2 SMART
low complexity region 721 736 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 benign
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: ENSMUST00000155459
SMART Domains Protein: ENSMUSP00000114945
Gene: ENSMUSG00000021699

DomainStartEndE-ValueType
Pfam:PDEase_I 121 189 2.6e-23 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (123/125)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T G 3: 121,969,772 (GRCm39) L2259R probably damaging Het
Acd A G 8: 106,427,647 (GRCm39) S2P possibly damaging Het
Acsf3 A G 8: 123,506,896 (GRCm39) Y63C possibly damaging Het
Adam21 T C 12: 81,607,748 (GRCm39) I5V probably benign Het
Adamts6 C A 13: 104,580,636 (GRCm39) S783* probably null Het
Adamtsl1 T C 4: 86,162,006 (GRCm39) probably null Het
Adck2 T A 6: 39,553,327 (GRCm39) S313T probably benign Het
Adgb A G 10: 10,233,616 (GRCm39) I1285T probably benign Het
Angptl1 T A 1: 156,688,153 (GRCm39) M485K possibly damaging Het
Ank3 G A 10: 69,694,095 (GRCm39) V289I probably benign Het
Atp13a4 A G 16: 29,308,826 (GRCm39) probably null Het
Atp1a1 A G 3: 101,491,091 (GRCm39) L648P probably benign Het
Atp2a3 A G 11: 72,863,855 (GRCm39) I194V probably benign Het
Bglap A C 3: 88,291,712 (GRCm39) I4S unknown Het
Cacna1b T A 2: 24,527,499 (GRCm39) T1621S possibly damaging Het
Ccdc112 T A 18: 46,420,739 (GRCm39) Q337L probably benign Het
Ccdc121rt3 A G 5: 112,503,165 (GRCm39) S180P possibly damaging Het
Cd34 T G 1: 194,633,319 (GRCm39) S194A probably damaging Het
Cdh20 A G 1: 104,868,989 (GRCm39) D160G probably damaging Het
Clock T C 5: 76,413,763 (GRCm39) K44R probably damaging Het
Commd9 A G 2: 101,729,241 (GRCm39) N116D probably benign Het
Dab2 C A 15: 6,459,092 (GRCm39) P335T probably benign Het
Epb41l3 T A 17: 69,555,714 (GRCm39) probably null Het
Epha2 A G 4: 141,049,727 (GRCm39) probably null Het
Fam78b T C 1: 166,906,216 (GRCm39) V125A probably benign Het
Fars2 A T 13: 36,721,400 (GRCm39) E448V probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glyr1 A C 16: 4,865,622 (GRCm39) V44G probably benign Het
Gm1527 A G 3: 28,974,812 (GRCm39) I542V possibly damaging Het
Gm18856 C A 13: 14,139,793 (GRCm39) probably benign Het
Gm44501 A G 17: 40,889,605 (GRCm39) K40E probably benign Het
Hdhd5 T C 6: 120,500,407 (GRCm39) H97R probably benign Het
Hmcn1 A G 1: 150,629,362 (GRCm39) V965A probably benign Het
Hsf5 A G 11: 87,526,446 (GRCm39) M373V probably benign Het
Igbp1b C T 6: 138,634,803 (GRCm39) E214K probably benign Het
Iigp1 T A 18: 60,522,964 (GRCm39) F27L probably benign Het
Isl1 T C 13: 116,441,966 (GRCm39) N89S probably benign Het
Itga1 C A 13: 115,171,921 (GRCm39) W61C probably damaging Het
Itga5 T C 15: 103,256,187 (GRCm39) R922G probably benign Het
Kbtbd3 G A 9: 4,331,073 (GRCm39) W482* probably null Het
Kcnq1 A G 7: 142,736,494 (GRCm39) T168A probably benign Het
Lrch3 A G 16: 32,826,074 (GRCm39) N631S probably damaging Het
Lrrk1 T A 7: 65,912,413 (GRCm39) I1716F possibly damaging Het
Ly75 T C 2: 60,180,284 (GRCm39) E631G probably benign Het
Map4 T C 9: 109,864,331 (GRCm39) S519P probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mrtfa C T 15: 80,901,234 (GRCm39) S419N probably damaging Het
Muc5b A G 7: 141,403,304 (GRCm39) E755G unknown Het
Ncaph2 T G 15: 89,255,010 (GRCm39) V478G probably damaging Het
Ncbp1 A G 4: 46,152,967 (GRCm39) R247G possibly damaging Het
Necab1 G T 4: 15,111,208 (GRCm39) D73E possibly damaging Het
Nedd9 T C 13: 41,471,376 (GRCm39) K208E probably benign Het
Nfyb A T 10: 82,588,202 (GRCm39) probably benign Het
Nol4 T C 18: 23,054,944 (GRCm39) Q162R probably damaging Het
Nwd2 G A 5: 63,962,776 (GRCm39) D787N probably benign Het
Olfr908 T A 9: 38,427,799 (GRCm39) M157K probably damaging Het
Or10a5 A T 7: 106,636,121 (GRCm39) Y253F probably benign Het
Or11g7 A C 14: 50,690,874 (GRCm39) M122L probably damaging Het
Or13a22 A G 7: 140,072,920 (GRCm39) D123G probably damaging Het
Or5ac23 C T 16: 59,149,213 (GRCm39) V220I probably benign Het
Or6a2 C T 7: 106,600,542 (GRCm39) G175D probably damaging Het
Or6e1 A G 14: 54,520,004 (GRCm39) M116T probably damaging Het
Orai3 T C 7: 127,373,060 (GRCm39) V187A probably benign Het
Parn T C 16: 13,424,066 (GRCm39) T444A probably benign Het
Pcdh11x A C X: 119,309,937 (GRCm39) N460T probably damaging Het
Pcnt C T 10: 76,205,858 (GRCm39) R2516H probably benign Het
Pdgfra A G 5: 75,349,972 (GRCm39) N952S probably benign Het
Pgm2 A G 5: 64,261,217 (GRCm39) Y237C probably damaging Het
Plcb2 A G 2: 118,541,605 (GRCm39) V975A probably benign Het
Polk T C 13: 96,625,764 (GRCm39) T347A probably benign Het
Ppp6r1 C T 7: 4,644,053 (GRCm39) V430M possibly damaging Het
Ptges2 C A 2: 32,286,334 (GRCm39) C16* probably null Het
Relb A T 7: 19,353,764 (GRCm39) I38N probably damaging Het
Runx1t1 T A 4: 13,837,767 (GRCm39) N51K probably damaging Het
Samsn1 A G 16: 75,680,733 (GRCm39) probably benign Het
Scrn1 A G 6: 54,497,754 (GRCm39) V279A possibly damaging Het
Sec31b A G 19: 44,520,185 (GRCm39) S200P probably benign Het
Selp A G 1: 163,972,475 (GRCm39) T705A probably benign Het
Slc2a1 G A 4: 118,989,642 (GRCm39) R61Q probably damaging Het
Slit3 G A 11: 35,542,647 (GRCm39) probably null Het
Smo T A 6: 29,755,573 (GRCm39) V415E probably damaging Het
Spag8 C A 4: 43,652,035 (GRCm39) V350L possibly damaging Het
Tbck T G 3: 132,413,559 (GRCm39) L132R possibly damaging Het
Thnsl1 T A 2: 21,216,856 (GRCm39) C203* probably null Het
Tm9sf2 T A 14: 122,387,252 (GRCm39) probably null Het
Tmem131 A G 1: 36,880,757 (GRCm39) V171A probably damaging Het
Tmem209 T C 6: 30,501,954 (GRCm39) T83A probably benign Het
Tmem63a T C 1: 180,782,416 (GRCm39) Y138H probably damaging Het
Trim80 A G 11: 115,338,769 (GRCm39) Y533C probably damaging Het
Trpv2 A G 11: 62,472,006 (GRCm39) D66G possibly damaging Het
Trrap T A 5: 144,769,298 (GRCm39) I2620N probably benign Het
Ttyh3 A T 5: 140,620,541 (GRCm39) I232N probably damaging Het
Ube2dnl1 G A X: 113,815,482 (GRCm39) C119Y possibly damaging Het
Unc13c T A 9: 73,839,469 (GRCm39) S461C probably damaging Het
Unc80 T G 1: 66,567,100 (GRCm39) I902S probably damaging Het
Usp42 C A 5: 143,709,692 (GRCm39) G170W probably damaging Het
Vldlr T C 19: 27,216,252 (GRCm39) probably null Het
Ywhab A G 2: 163,857,265 (GRCm39) Y180C probably damaging Het
Zan A T 5: 137,379,112 (GRCm39) C5329* probably null Het
Zbtb40 C T 4: 136,725,953 (GRCm39) M535I probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp318 A G 17: 46,722,988 (GRCm39) T1664A probably benign Het
Zfp7 T A 15: 76,775,546 (GRCm39) C529* probably null Het
Zfp768 T C 7: 126,942,547 (GRCm39) Q527R possibly damaging Het
Zfp975 T A 7: 42,314,570 (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
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
R7417:Pde4d UTSW 13 109,769,322 (GRCm39) splice site probably null
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'- ATCCCAGTAGACACTTTGATTACG -3'
(R):5'- CCGGAAGTCAGTATGTGAGATG -3'

Sequencing Primer
(F):5'- CGTATCTTATGACTCTGGAAGACC -3'
(R):5'- CCCACTGGATCATTTCAGAGAAGTG -3'
Posted On 2016-02-04