Incidental Mutation 'R8926:Pde4d'
ID 679566
Institutional Source Beutler Lab
Gene Symbol Pde4d
Ensembl Gene ENSMUSG00000021699
Gene Name phosphodiesterase 4D, cAMP specific
Synonyms 9630011N22Rik, dunce, Dpde3
MMRRC Submission 068770-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8926 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 108790711-110092503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110074625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 410 (V410A)
Ref Sequence ENSEMBL: ENSMUSP00000113488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074103] [ENSMUST00000079975] [ENSMUST00000117420] [ENSMUST00000117879] [ENSMUST00000119507] [ENSMUST00000119672] [ENSMUST00000120664] [ENSMUST00000122041] [ENSMUST00000120671] [ENSMUST00000135275] [ENSMUST00000177907]
AlphaFold Q01063
Predicted Effect probably benign
Transcript: ENSMUST00000074103
AA Change: V341A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
AA Change: V341A

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
AA Change: V361A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699
AA Change: V361A

DomainStartEndE-ValueType
HDc 349 524 1.12e-2 SMART
low complexity region 672 687 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117420
AA Change: V180A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113610
Gene: ENSMUSG00000021699
AA Change: V180A

DomainStartEndE-ValueType
HDc 168 343 1.12e-2 SMART
low complexity region 491 506 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117879
AA Change: V167A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112774
Gene: ENSMUSG00000021699
AA Change: V167A

DomainStartEndE-ValueType
HDc 155 330 1.12e-2 SMART
low complexity region 478 493 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119507
AA Change: V366A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699
AA Change: V366A

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
AA Change: V247A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113024
Gene: ENSMUSG00000021699
AA Change: V247A

DomainStartEndE-ValueType
HDc 235 410 1.12e-2 SMART
low complexity region 558 573 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122041
AA Change: V410A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: V410A

DomainStartEndE-ValueType
HDc 398 573 1.12e-2 SMART
low complexity region 721 736 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120671
AA Change: V466A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: V466A

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: ENSMUST00000135275
AA Change: V363A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
AA Change: V363A

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 damaging
Transcript: ENSMUST00000153234
AA Change: V416A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699
AA Change: V416A

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 damaging
Transcript: ENSMUST00000155459
AA Change: V130A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114945
Gene: ENSMUSG00000021699
AA Change: V130A

DomainStartEndE-ValueType
Pfam:PDEase_I 121 189 2.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177907
AA Change: V410A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: V410A

DomainStartEndE-ValueType
HDc 398 573 1.12e-2 SMART
low complexity region 721 736 N/A INTRINSIC
Meta Mutation Damage Score 0.0614 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (69/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T A 5: 30,405,446 (GRCm39) D296V possibly damaging Het
Ahi1 T C 10: 20,930,982 (GRCm39) Y941H probably damaging Het
Bscl2 T C 19: 8,825,348 (GRCm39) probably null Het
C1s1 C T 6: 124,510,325 (GRCm39) G374D probably damaging Het
C1s1 T C 6: 124,513,322 (GRCm39) D235G possibly damaging Het
Cacna1e C T 1: 154,577,080 (GRCm39) V106I possibly damaging Het
Ccdc97 G A 7: 25,412,494 (GRCm39) A316V probably benign Het
Ces1a A G 8: 93,751,841 (GRCm39) V431A probably benign Het
Cftr C T 6: 18,268,003 (GRCm39) S684L possibly damaging Het
Cgnl1 T A 9: 71,632,535 (GRCm39) N272I probably benign Het
Csf2rb C T 15: 78,224,749 (GRCm39) S169L probably benign Het
Cux1 T A 5: 136,338,404 (GRCm39) probably benign Het
Cyp11b1 T A 15: 74,711,087 (GRCm39) Y197F probably benign Het
Cyp1a2 T C 9: 57,588,361 (GRCm39) K288E probably benign Het
Dapk1 T A 13: 60,908,734 (GRCm39) W1116R probably damaging Het
Dclre1c A T 2: 3,434,827 (GRCm39) D97V probably damaging Het
Efcc1 A G 6: 87,726,169 (GRCm39) R323G probably benign Het
Epha6 T A 16: 59,659,662 (GRCm39) I819F probably benign Het
Fam118b A T 9: 35,146,732 (GRCm39) L45Q probably damaging Het
Fcgbpl1 G A 7: 27,853,869 (GRCm39) C1611Y probably damaging Het
Fsd1l T G 4: 53,686,493 (GRCm39) I302S probably benign Het
Fsip2 T A 2: 82,823,927 (GRCm39) D6553E possibly damaging Het
Gje1 C T 10: 14,592,435 (GRCm39) V116I probably benign Het
H2-T9 T A 17: 36,420,626 (GRCm39) probably null Het
Helz C A 11: 107,563,509 (GRCm39) H1650N unknown Het
Hltf T G 3: 20,123,323 (GRCm39) probably null Het
Intu T A 3: 40,608,139 (GRCm39) D50E possibly damaging Het
Ipo9 C T 1: 135,313,952 (GRCm39) probably benign Het
Lama5 G A 2: 179,835,783 (GRCm39) T1217I probably benign Het
Lct T A 1: 128,228,148 (GRCm39) Y1115F probably damaging Het
Lpgat1 T C 1: 191,492,120 (GRCm39) L202P probably damaging Het
Lrp1 C T 10: 127,381,671 (GRCm39) R3801H probably benign Het
Mtfmt T A 9: 65,344,414 (GRCm39) Y113* probably null Het
Myh7 A G 14: 55,222,533 (GRCm39) F801L probably benign Het
Myl4 G T 11: 104,476,572 (GRCm39) M191I probably benign Het
Myo3a C A 2: 22,401,074 (GRCm39) N614K possibly damaging Het
Naa30 A G 14: 49,425,059 (GRCm39) N337S probably benign Het
Nol10 C A 12: 17,466,871 (GRCm39) Q584K probably benign Het
Nup210 C A 6: 91,030,434 (GRCm39) G919C probably damaging Het
Or13a20 G A 7: 140,232,113 (GRCm39) V74M probably benign Het
Or5p57 G A 7: 107,665,513 (GRCm39) T134I probably benign Het
Pdcd6ip T A 9: 113,514,493 (GRCm39) Q244L probably benign Het
Plekha7 A T 7: 115,756,223 (GRCm39) probably benign Het
Plpp4 A T 7: 128,923,211 (GRCm39) probably null Het
Poln T C 5: 34,286,769 (GRCm39) N133S probably benign Het
Ppfibp1 A G 6: 146,920,986 (GRCm39) N575D probably damaging Het
Prex2 T A 1: 11,159,930 (GRCm39) probably null Het
Prkar2b A G 12: 32,111,080 (GRCm39) M1T probably null Het
Ptcd3 A G 6: 71,869,464 (GRCm39) F378S probably damaging Het
Rab27b C A 18: 70,129,144 (GRCm39) R50L probably damaging Het
Rpl7a T G 2: 26,801,557 (GRCm39) F83C probably damaging Het
Slc8a2 A G 7: 15,868,194 (GRCm39) E142G probably damaging Het
Slc9a4 A T 1: 40,619,928 (GRCm39) I85L possibly damaging Het
Sorcs1 C A 19: 50,241,096 (GRCm39) W430L possibly damaging Het
Spaca6 T A 17: 18,058,790 (GRCm39) probably null Het
Synrg C A 11: 83,881,567 (GRCm39) A301E possibly damaging Het
Tcl1 G A 12: 105,184,969 (GRCm39) probably benign Het
Tecpr1 C T 5: 144,153,780 (GRCm39) V158M probably damaging Het
Tex2 T G 11: 106,459,230 (GRCm39) T67P Het
Tlr9 A T 9: 106,103,213 (GRCm39) I835L probably benign Het
Tmem185b G C 1: 119,454,406 (GRCm39) V56L probably benign Het
Tssk2 C T 16: 17,717,562 (GRCm39) R322W probably benign Het
Ttn T A 2: 76,571,735 (GRCm39) Y26386F probably benign Het
Txndc16 C A 14: 45,406,771 (GRCm39) R228I possibly damaging Het
Uspl1 T G 5: 149,138,701 (GRCm39) probably null Het
Vmn1r113 A T 7: 20,521,874 (GRCm39) H222L possibly damaging Het
Vnn1 T G 10: 23,776,587 (GRCm39) S313A probably benign Het
Zc3hc1 A T 6: 30,374,887 (GRCm39) L218Q possibly damaging Het
Znrf1 T G 8: 112,264,143 (GRCm39) L124R probably damaging Het
Zzz3 A T 3: 152,133,529 (GRCm39) N196Y possibly damaging 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
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
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'- ACCCTGGGGAATGAGTTTTAC -3'
(R):5'- AAATCTCGTAGCAGCTCTCAC -3'

Sequencing Primer
(F):5'- CCCTGGGGAATGAGTTTTACGAAATG -3'
(R):5'- GTAGCAGCTCTCACTGATAAAACTC -3'
Posted On 2021-08-02