Incidental Mutation 'IGL01014:Pde4d'
ID 53936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde4d
Ensembl Gene ENSMUSG00000021699
Gene Name phosphodiesterase 4D, cAMP specific
Synonyms 9630011N22Rik, dunce, Dpde3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01014
Quality Score
Status
Chromosome 13
Chromosomal Location 108790711-110092503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110086036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 538 (V538A)
Ref Sequence ENSEMBL: ENSMUSP00000136485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074103] [ENSMUST00000079975] [ENSMUST00000117420] [ENSMUST00000117879] [ENSMUST00000119507] [ENSMUST00000119672] [ENSMUST00000120671] [ENSMUST00000122041] [ENSMUST00000135275] [ENSMUST00000177907] [ENSMUST00000120664]
AlphaFold Q01063
Predicted Effect probably damaging
Transcript: ENSMUST00000074103
AA Change: V469A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
AA Change: V469A

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 damaging
Transcript: ENSMUST00000079975
AA Change: V489A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699
AA Change: V489A

DomainStartEndE-ValueType
HDc 349 524 1.12e-2 SMART
low complexity region 672 687 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000117420
AA Change: V308A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113610
Gene: ENSMUSG00000021699
AA Change: V308A

DomainStartEndE-ValueType
HDc 168 343 1.12e-2 SMART
low complexity region 491 506 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117879
AA Change: V295A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112774
Gene: ENSMUSG00000021699
AA Change: V295A

DomainStartEndE-ValueType
HDc 155 330 1.12e-2 SMART
low complexity region 478 493 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119507
AA Change: V494A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699
AA Change: V494A

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 damaging
Transcript: ENSMUST00000120671
AA Change: V594A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: V594A

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 damaging
Transcript: ENSMUST00000122041
AA Change: V538A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: V538A

DomainStartEndE-ValueType
HDc 398 573 1.12e-2 SMART
low complexity region 721 736 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135275
AA Change: V491A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
AA Change: V491A

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: ENSMUST00000177907
AA Change: V538A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: V538A

DomainStartEndE-ValueType
HDc 398 573 1.12e-2 SMART
low complexity region 721 736 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120664
AA Change: V375A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113024
Gene: ENSMUSG00000021699
AA Change: V375A

DomainStartEndE-ValueType
HDc 235 410 1.12e-2 SMART
low complexity region 558 573 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000153234
AA Change: V544A
SMART Domains Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699
AA Change: V544A

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
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,455,576 (GRCm39) M401I probably benign Het
Adgra1 C T 7: 139,455,577 (GRCm39) H402Y probably damaging Het
Akap13 T C 7: 75,400,381 (GRCm39) probably benign Het
Akap9 A G 5: 4,018,683 (GRCm39) E1088G probably benign Het
Aox1 T C 1: 58,361,960 (GRCm39) F722S possibly damaging Het
Arhgef39 G A 4: 43,499,502 (GRCm39) R36C probably damaging Het
Art2a C A 7: 101,204,115 (GRCm39) C141F probably damaging Het
Brwd1 A G 16: 95,817,373 (GRCm39) F1380L probably benign Het
Cadps2 A T 6: 23,496,873 (GRCm39) N102K possibly damaging Het
Ccdc30 C A 4: 119,250,776 (GRCm39) R22L possibly damaging Het
Ccdc74a A T 16: 17,467,661 (GRCm39) T200S possibly damaging Het
Cd200 G A 16: 45,215,063 (GRCm39) T196I probably benign Het
Cd244a A G 1: 171,401,856 (GRCm39) Y194C probably damaging Het
Cdh23 T C 10: 60,143,301 (GRCm39) T3009A probably damaging Het
Clec12b T A 6: 129,362,393 (GRCm39) N21Y probably damaging Het
Cntln A G 4: 84,968,145 (GRCm39) E788G probably benign Het
Col11a1 C T 3: 113,917,458 (GRCm39) probably benign Het
Cttnbp2 T A 6: 18,423,894 (GRCm39) N810I probably damaging Het
Dhx15 A T 5: 52,309,266 (GRCm39) V719D probably damaging Het
Dnah6 A G 6: 73,051,764 (GRCm39) probably benign Het
Dnajc13 A G 9: 104,080,417 (GRCm39) I888T probably damaging Het
Fasn T C 11: 120,708,055 (GRCm39) K666E probably damaging Het
Gnas C T 2: 174,139,767 (GRCm39) probably benign Het
Lmntd2 T C 7: 140,793,952 (GRCm39) Q7R probably damaging Het
Lmo7 G A 14: 102,157,993 (GRCm39) probably benign Het
Lrrc55 A G 2: 85,026,559 (GRCm39) I155T possibly damaging Het
Meis3 C T 7: 15,912,872 (GRCm39) probably benign Het
Mib2 C T 4: 155,742,187 (GRCm39) V334M probably damaging Het
Myo3a A G 2: 22,337,284 (GRCm39) I386V probably benign Het
Neb C A 2: 52,177,170 (GRCm39) M1390I probably benign Het
Nmd3 G A 3: 69,633,719 (GRCm39) V69I probably benign Het
Nsmce3 G T 7: 64,522,382 (GRCm39) D95E possibly damaging Het
Or4c12 T C 2: 89,773,604 (GRCm39) Y285C probably damaging Het
Or4f58 A G 2: 111,851,477 (GRCm39) S241P probably damaging Het
Or5w16 T C 2: 87,577,469 (GRCm39) F310L probably benign Het
Pgap6 T A 17: 26,335,983 (GRCm39) probably benign Het
Plxnb1 A T 9: 108,935,102 (GRCm39) H982L probably benign Het
Pold2 G T 11: 5,822,293 (GRCm39) Q459K probably benign Het
Ptpn14 G A 1: 189,554,830 (GRCm39) R130Q probably damaging Het
Rnf10 A T 5: 115,395,042 (GRCm39) L182Q probably damaging Het
Syne2 G A 12: 75,952,051 (GRCm39) D440N probably damaging Het
Tlcd1 G A 11: 78,070,283 (GRCm39) probably null Het
Tpte A T 8: 22,810,898 (GRCm39) Y185F probably benign 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
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
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
Posted On 2013-06-28