Incidental Mutation 'R7354:Pde4dip'
ID 570785
Institutional Source Beutler Lab
Gene Symbol Pde4dip
Ensembl Gene ENSMUSG00000038170
Gene Name phosphodiesterase 4D interacting protein (myomegalin)
Synonyms Usmg4, D3Bwg1078e, D130016K21Rik, 9430063L05Rik, 4732458A06Rik
MMRRC Submission 045440-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7354 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 97597144-97796023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97626646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1297 (R1297S)
Ref Sequence ENSEMBL: ENSMUSP00000088254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090750] [ENSMUST00000168438]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000090750
AA Change: R1297S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088254
Gene: ENSMUSG00000038170
AA Change: R1297S

DomainStartEndE-ValueType
low complexity region 10 40 N/A INTRINSIC
low complexity region 45 57 N/A INTRINSIC
Pfam:Cnn_1N 124 196 3.2e-26 PFAM
low complexity region 204 219 N/A INTRINSIC
coiled coil region 282 325 N/A INTRINSIC
internal_repeat_1 397 438 4.03e-5 PROSPERO
low complexity region 567 578 N/A INTRINSIC
internal_repeat_2 617 667 6.59e-5 PROSPERO
internal_repeat_1 620 661 4.03e-5 PROSPERO
coiled coil region 866 942 N/A INTRINSIC
low complexity region 1038 1056 N/A INTRINSIC
low complexity region 1067 1082 N/A INTRINSIC
coiled coil region 1118 1163 N/A INTRINSIC
coiled coil region 1336 1363 N/A INTRINSIC
low complexity region 1403 1420 N/A INTRINSIC
coiled coil region 1470 1508 N/A INTRINSIC
internal_repeat_2 1597 1644 6.59e-5 PROSPERO
DUF1220 1680 1747 1.17e-17 SMART
low complexity region 1758 1780 N/A INTRINSIC
low complexity region 1836 1851 N/A INTRINSIC
low complexity region 1860 1874 N/A INTRINSIC
low complexity region 1940 1951 N/A INTRINSIC
coiled coil region 1962 2138 N/A INTRINSIC
coiled coil region 2162 2197 N/A INTRINSIC
coiled coil region 2387 2431 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000168438
AA Change: R1297S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131170
Gene: ENSMUSG00000038170
AA Change: R1297S

DomainStartEndE-ValueType
low complexity region 10 40 N/A INTRINSIC
low complexity region 45 57 N/A INTRINSIC
Pfam:Microtub_assoc 124 198 1.4e-31 PFAM
low complexity region 204 219 N/A INTRINSIC
coiled coil region 282 325 N/A INTRINSIC
internal_repeat_1 397 438 3.56e-5 PROSPERO
low complexity region 567 578 N/A INTRINSIC
internal_repeat_2 617 667 5.83e-5 PROSPERO
internal_repeat_1 620 661 3.56e-5 PROSPERO
coiled coil region 866 942 N/A INTRINSIC
low complexity region 1038 1056 N/A INTRINSIC
low complexity region 1067 1082 N/A INTRINSIC
coiled coil region 1118 1163 N/A INTRINSIC
coiled coil region 1336 1363 N/A INTRINSIC
low complexity region 1403 1420 N/A INTRINSIC
coiled coil region 1470 1508 N/A INTRINSIC
internal_repeat_2 1597 1644 5.83e-5 PROSPERO
DUF1220 1680 1747 1.17e-17 SMART
low complexity region 1758 1769 N/A INTRINSIC
low complexity region 1785 1800 N/A INTRINSIC
low complexity region 1809 1823 N/A INTRINSIC
low complexity region 1889 1900 N/A INTRINSIC
coiled coil region 1911 2087 N/A INTRINSIC
coiled coil region 2111 2146 N/A INTRINSIC
coiled coil region 2336 2380 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (82/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit partial (in utero or perinatal) lethality, hyperactivity, and increased vertical activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 T A 4: 126,311,099 (GRCm39) Q38L possibly damaging Het
Apon T A 10: 128,090,607 (GRCm39) I95N probably benign Het
Arid1a G T 4: 133,421,258 (GRCm39) P464Q unknown Het
Arid4b A G 13: 14,339,455 (GRCm39) D503G probably benign Het
Asxl2 T C 12: 3,505,637 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,048,028 (GRCm39) V594D probably damaging Het
Begain A G 12: 108,999,215 (GRCm39) F519L possibly damaging Het
Bora A G 14: 99,284,794 (GRCm39) T15A probably damaging Het
Btbd7 A T 12: 102,804,464 (GRCm39) M192K probably benign Het
Ccdc125 T G 13: 100,814,382 (GRCm39) probably null Het
Cdcp3 G A 7: 130,858,458 (GRCm39) C1042Y possibly damaging Het
Cdcp3 G T 7: 130,873,762 (GRCm39) C1696F unknown Het
Cfap74 G T 4: 155,549,804 (GRCm39) V146L unknown Het
Crisp1 G A 17: 40,630,071 (GRCm39) probably benign Het
Ctbp1 A T 5: 33,407,732 (GRCm39) H292Q possibly damaging Het
Defb5 T A 8: 19,300,750 (GRCm39) M34K probably benign Het
Dnajc27 A G 12: 4,146,249 (GRCm39) I93V probably benign Het
Dqx1 T A 6: 83,037,957 (GRCm39) Y448* probably null Het
Dynap A T 18: 70,374,371 (GRCm39) C52S possibly damaging Het
Ehd4 C A 2: 119,932,613 (GRCm39) R271L probably damaging Het
Ercc2 T G 7: 19,127,579 (GRCm39) I619S possibly damaging Het
Etf1 A G 18: 35,039,040 (GRCm39) I409T probably damaging Het
Fam117a A G 11: 95,271,529 (GRCm39) D367G probably damaging Het
Fancd2 A G 6: 113,572,907 (GRCm39) D1447G unknown Het
Fbxw9 T C 8: 85,788,825 (GRCm39) S192P probably damaging Het
Frzb A T 2: 80,277,153 (GRCm39) L11Q probably damaging Het
Gm14496 T C 2: 181,642,479 (GRCm39) S717P probably damaging Het
Gm3250 A G 10: 77,618,367 (GRCm39) probably benign Het
Gm4353 C T 7: 115,683,146 (GRCm39) R145Q probably benign Het
Gpr12 A T 5: 146,520,772 (GRCm39) V50D probably damaging Het
Hes1 T C 16: 29,884,746 (GRCm39) probably null Het
Hmcn1 A T 1: 150,682,196 (GRCm39) C451* probably null Het
Iars1 T C 13: 49,857,796 (GRCm39) V347A probably benign Het
Igfn1 A G 1: 135,903,770 (GRCm39) S323P possibly damaging Het
Itga6 G A 2: 71,650,574 (GRCm39) A207T probably damaging Het
Lgi4 T A 7: 30,760,047 (GRCm39) L81H probably damaging Het
Lrp1 T C 10: 127,407,277 (GRCm39) E1888G probably damaging Het
Man2a1 C T 17: 65,059,539 (GRCm39) T1142M probably damaging Het
Mdfic2 T A 6: 98,215,242 (GRCm39) D127V probably damaging Het
Mgam A T 6: 40,721,732 (GRCm39) Y350F probably damaging Het
Miga1 T C 3: 151,996,137 (GRCm39) D351G probably damaging Het
Mro A G 18: 74,006,385 (GRCm39) T111A probably benign Het
Mtrr A T 13: 68,714,326 (GRCm39) V471E probably damaging Het
Myh3 C A 11: 66,987,708 (GRCm39) L1394I probably damaging Het
Myocd A G 11: 65,078,319 (GRCm39) V492A probably benign Het
Nbeal2 A G 9: 110,458,247 (GRCm39) F2115S probably damaging Het
Nlrp1b A T 11: 71,072,376 (GRCm39) M489K possibly damaging Het
Or12j5 A C 7: 140,084,099 (GRCm39) I91R probably damaging Het
Or14j7 A G 17: 38,235,284 (GRCm39) I276V probably benign Het
Or1e1c A T 11: 73,266,201 (GRCm39) I212F probably benign Het
Or4c122 T C 2: 89,079,031 (GRCm39) probably null Het
Or4k44 C T 2: 111,367,909 (GRCm39) A242T possibly damaging Het
Orc2 A G 1: 58,508,906 (GRCm39) S462P possibly damaging Het
Pcdh9 T C 14: 94,125,706 (GRCm39) T155A probably benign Het
Pcdhb16 G A 18: 37,611,177 (GRCm39) V46I possibly damaging Het
Pcdhb22 A G 18: 37,653,311 (GRCm39) D336G probably damaging Het
Plin4 A G 17: 56,411,427 (GRCm39) M868T probably benign Het
Plxnb2 A G 15: 89,049,928 (GRCm39) M531T possibly damaging Het
Poc5 T C 13: 96,531,033 (GRCm39) V77A probably benign Het
Recql5 G A 11: 115,819,027 (GRCm39) R180C probably damaging Het
Rho C A 6: 115,912,464 (GRCm39) Y268* probably null Het
Riok1 A T 13: 38,231,288 (GRCm39) H182L probably benign Het
Rnf207 T C 4: 152,398,548 (GRCm39) D273G probably damaging Het
Serpinb11 A G 1: 107,305,263 (GRCm39) Y213C probably benign Het
Slc16a10 T C 10: 39,952,951 (GRCm39) Y181C probably damaging Het
Slc22a15 G A 3: 101,771,897 (GRCm39) H401Y probably benign Het
Slc5a5 C A 8: 71,342,247 (GRCm39) R268L probably damaging Het
Slc9a8 T C 2: 167,316,051 (GRCm39) F576S possibly damaging Het
Slx4 T C 16: 3,804,963 (GRCm39) E617G probably benign Het
Spata31d1e A T 13: 59,889,648 (GRCm39) L724* probably null Het
Top1 T C 2: 160,546,878 (GRCm39) I386T probably damaging Het
Tor1aip1 G T 1: 155,911,859 (GRCm39) D41E probably damaging Het
Tsc22d4 G A 5: 137,766,371 (GRCm39) R479Q probably benign Het
Unc79 C T 12: 103,108,961 (GRCm39) T2191I possibly damaging Het
Vmn2r109 A T 17: 20,761,043 (GRCm39) D771E probably damaging Het
Vmn2r82 A C 10: 79,192,464 (GRCm39) M14L probably benign Het
Zc3h7a C T 16: 10,966,378 (GRCm39) S583N probably damaging Het
Zfp518b G A 5: 38,840,122 (GRCm39) probably benign Het
Zswim4 A G 8: 84,955,478 (GRCm39) W314R probably damaging Het
Other mutations in Pde4dip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Pde4dip APN 3 97,674,593 (GRCm39) missense probably benign 0.00
IGL00543:Pde4dip APN 3 97,664,940 (GRCm39) missense possibly damaging 0.91
IGL00979:Pde4dip APN 3 97,655,074 (GRCm39) splice site probably benign
IGL01483:Pde4dip APN 3 97,661,465 (GRCm39) missense probably damaging 1.00
IGL02122:Pde4dip APN 3 97,674,737 (GRCm39) missense probably damaging 1.00
IGL02398:Pde4dip APN 3 97,674,097 (GRCm39) missense probably benign
IGL02814:Pde4dip APN 3 97,674,416 (GRCm39) missense probably damaging 1.00
IGL02826:Pde4dip APN 3 97,674,403 (GRCm39) missense probably damaging 1.00
D3080:Pde4dip UTSW 3 97,674,146 (GRCm39) missense probably damaging 1.00
R0077:Pde4dip UTSW 3 97,660,442 (GRCm39) nonsense probably null
R0096:Pde4dip UTSW 3 97,674,783 (GRCm39) missense probably damaging 0.99
R0277:Pde4dip UTSW 3 97,751,028 (GRCm39) missense probably benign 0.01
R0304:Pde4dip UTSW 3 97,751,028 (GRCm39) missense probably benign 0.01
R0616:Pde4dip UTSW 3 97,654,849 (GRCm39) missense probably benign 0.09
R0676:Pde4dip UTSW 3 97,624,413 (GRCm39) splice site probably benign
R1166:Pde4dip UTSW 3 97,620,512 (GRCm39) missense possibly damaging 0.94
R1376:Pde4dip UTSW 3 97,650,533 (GRCm39) missense probably damaging 0.99
R1376:Pde4dip UTSW 3 97,650,533 (GRCm39) missense probably damaging 0.99
R1452:Pde4dip UTSW 3 97,631,418 (GRCm39) missense probably damaging 1.00
R1550:Pde4dip UTSW 3 97,627,020 (GRCm39) missense probably damaging 1.00
R1700:Pde4dip UTSW 3 97,610,639 (GRCm39) missense probably benign 0.00
R1704:Pde4dip UTSW 3 97,661,576 (GRCm39) missense probably benign 0.28
R1769:Pde4dip UTSW 3 97,603,246 (GRCm39) missense probably benign 0.00
R1934:Pde4dip UTSW 3 97,600,007 (GRCm39) missense possibly damaging 0.74
R1980:Pde4dip UTSW 3 97,664,312 (GRCm39) missense possibly damaging 0.93
R2088:Pde4dip UTSW 3 97,661,749 (GRCm39) missense probably null 1.00
R2143:Pde4dip UTSW 3 97,795,835 (GRCm39) missense possibly damaging 0.86
R2149:Pde4dip UTSW 3 97,700,152 (GRCm39) missense possibly damaging 0.64
R2156:Pde4dip UTSW 3 97,631,534 (GRCm39) missense probably damaging 0.98
R2158:Pde4dip UTSW 3 97,664,937 (GRCm39) missense probably benign 0.15
R2240:Pde4dip UTSW 3 97,631,480 (GRCm39) missense probably benign 0.00
R2249:Pde4dip UTSW 3 97,700,841 (GRCm39) missense probably damaging 1.00
R2256:Pde4dip UTSW 3 97,625,500 (GRCm39) missense probably damaging 1.00
R2680:Pde4dip UTSW 3 97,608,933 (GRCm39) missense possibly damaging 0.92
R2921:Pde4dip UTSW 3 97,626,885 (GRCm39) missense probably benign
R3407:Pde4dip UTSW 3 97,661,784 (GRCm39) missense probably damaging 1.00
R3736:Pde4dip UTSW 3 97,631,427 (GRCm39) missense probably damaging 1.00
R3787:Pde4dip UTSW 3 97,622,868 (GRCm39) missense possibly damaging 0.80
R3883:Pde4dip UTSW 3 97,620,504 (GRCm39) missense probably damaging 1.00
R4437:Pde4dip UTSW 3 97,673,885 (GRCm39) missense possibly damaging 0.52
R4528:Pde4dip UTSW 3 97,624,338 (GRCm39) missense probably damaging 1.00
R4576:Pde4dip UTSW 3 97,661,565 (GRCm39) missense probably damaging 1.00
R4600:Pde4dip UTSW 3 97,603,260 (GRCm39) missense probably damaging 0.98
R4653:Pde4dip UTSW 3 97,674,654 (GRCm39) missense probably damaging 0.99
R4678:Pde4dip UTSW 3 97,602,321 (GRCm39) missense probably damaging 1.00
R4679:Pde4dip UTSW 3 97,602,321 (GRCm39) missense probably damaging 1.00
R4688:Pde4dip UTSW 3 97,750,993 (GRCm39) nonsense probably null
R4770:Pde4dip UTSW 3 97,674,400 (GRCm39) missense probably damaging 1.00
R4841:Pde4dip UTSW 3 97,700,844 (GRCm39) missense probably damaging 1.00
R4842:Pde4dip UTSW 3 97,700,844 (GRCm39) missense probably damaging 1.00
R4899:Pde4dip UTSW 3 97,616,874 (GRCm39) missense probably damaging 1.00
R4914:Pde4dip UTSW 3 97,622,644 (GRCm39) missense probably benign 0.10
R4943:Pde4dip UTSW 3 97,662,827 (GRCm39) missense probably damaging 0.99
R5131:Pde4dip UTSW 3 97,616,830 (GRCm39) missense probably damaging 0.98
R5408:Pde4dip UTSW 3 97,704,052 (GRCm39) missense probably benign 0.35
R5583:Pde4dip UTSW 3 97,654,892 (GRCm39) missense possibly damaging 0.67
R5677:Pde4dip UTSW 3 97,748,964 (GRCm39) nonsense probably null
R5689:Pde4dip UTSW 3 97,599,683 (GRCm39) nonsense probably null
R5696:Pde4dip UTSW 3 97,616,806 (GRCm39) missense probably damaging 1.00
R5860:Pde4dip UTSW 3 97,631,504 (GRCm39) missense possibly damaging 0.68
R6279:Pde4dip UTSW 3 97,606,496 (GRCm39) missense probably damaging 1.00
R6341:Pde4dip UTSW 3 97,602,227 (GRCm39) missense probably benign
R6440:Pde4dip UTSW 3 97,674,902 (GRCm39) missense probably damaging 1.00
R6464:Pde4dip UTSW 3 97,617,660 (GRCm39) missense probably damaging 1.00
R6489:Pde4dip UTSW 3 97,662,907 (GRCm39) nonsense probably null
R6706:Pde4dip UTSW 3 97,648,709 (GRCm39) missense probably damaging 1.00
R6722:Pde4dip UTSW 3 97,625,555 (GRCm39) nonsense probably null
R6798:Pde4dip UTSW 3 97,795,850 (GRCm39) missense probably benign
R6804:Pde4dip UTSW 3 97,700,564 (GRCm39) nonsense probably null
R6862:Pde4dip UTSW 3 97,674,340 (GRCm39) missense possibly damaging 0.52
R6957:Pde4dip UTSW 3 97,731,649 (GRCm39) splice site probably null
R6983:Pde4dip UTSW 3 97,625,552 (GRCm39) missense probably damaging 1.00
R7014:Pde4dip UTSW 3 97,622,738 (GRCm39) missense possibly damaging 0.54
R7025:Pde4dip UTSW 3 97,631,499 (GRCm39) nonsense probably null
R7136:Pde4dip UTSW 3 97,601,379 (GRCm39) missense probably benign 0.03
R7178:Pde4dip UTSW 3 97,622,946 (GRCm39) missense probably benign 0.26
R7269:Pde4dip UTSW 3 97,674,275 (GRCm39) missense probably damaging 1.00
R7283:Pde4dip UTSW 3 97,666,198 (GRCm39) missense probably benign 0.03
R7357:Pde4dip UTSW 3 97,622,857 (GRCm39) missense probably benign 0.01
R7360:Pde4dip UTSW 3 97,625,632 (GRCm39) missense probably benign 0.01
R7371:Pde4dip UTSW 3 97,664,587 (GRCm39) missense probably benign 0.08
R7432:Pde4dip UTSW 3 97,602,408 (GRCm39) missense probably benign
R7536:Pde4dip UTSW 3 97,664,560 (GRCm39) missense probably damaging 1.00
R7542:Pde4dip UTSW 3 97,673,971 (GRCm39) missense possibly damaging 0.59
R7609:Pde4dip UTSW 3 97,622,881 (GRCm39) missense possibly damaging 0.85
R7650:Pde4dip UTSW 3 97,606,423 (GRCm39) critical splice donor site probably null
R7800:Pde4dip UTSW 3 97,622,599 (GRCm39) missense probably damaging 1.00
R7846:Pde4dip UTSW 3 97,622,490 (GRCm39) missense probably damaging 1.00
R7918:Pde4dip UTSW 3 97,622,539 (GRCm39) nonsense probably null
R8120:Pde4dip UTSW 3 97,614,254 (GRCm39) missense probably null 0.94
R8139:Pde4dip UTSW 3 97,604,309 (GRCm39) missense probably benign 0.02
R8144:Pde4dip UTSW 3 97,622,742 (GRCm39) missense probably damaging 1.00
R8177:Pde4dip UTSW 3 97,674,848 (GRCm39) missense probably damaging 0.98
R8294:Pde4dip UTSW 3 97,674,694 (GRCm39) missense probably damaging 1.00
R8406:Pde4dip UTSW 3 97,606,428 (GRCm39) missense probably benign 0.04
R8911:Pde4dip UTSW 3 97,650,917 (GRCm39) missense probably benign 0.22
R8912:Pde4dip UTSW 3 97,617,633 (GRCm39) missense probably damaging 1.00
R8960:Pde4dip UTSW 3 97,700,464 (GRCm39) missense probably damaging 1.00
R8993:Pde4dip UTSW 3 97,673,810 (GRCm39) missense probably damaging 1.00
R9031:Pde4dip UTSW 3 97,599,675 (GRCm39) missense probably damaging 1.00
R9032:Pde4dip UTSW 3 97,601,385 (GRCm39) missense probably benign 0.00
R9085:Pde4dip UTSW 3 97,601,385 (GRCm39) missense probably benign 0.00
R9103:Pde4dip UTSW 3 97,749,044 (GRCm39) missense probably damaging 1.00
R9163:Pde4dip UTSW 3 97,659,123 (GRCm39) critical splice donor site probably null
R9182:Pde4dip UTSW 3 97,602,314 (GRCm39) missense probably benign 0.13
R9185:Pde4dip UTSW 3 97,666,132 (GRCm39) missense probably benign 0.01
R9286:Pde4dip UTSW 3 97,607,183 (GRCm39) missense probably damaging 1.00
R9357:Pde4dip UTSW 3 97,625,645 (GRCm39) missense probably benign 0.00
R9415:Pde4dip UTSW 3 97,660,468 (GRCm39) missense possibly damaging 0.82
R9500:Pde4dip UTSW 3 97,795,896 (GRCm39) missense unknown
R9595:Pde4dip UTSW 3 97,602,207 (GRCm39) critical splice donor site probably null
R9689:Pde4dip UTSW 3 97,649,841 (GRCm39) missense probably damaging 1.00
R9720:Pde4dip UTSW 3 97,603,287 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACTAGCTGTGGCAAGGCAC -3'
(R):5'- AGGCTGAGTTCAGGAAAGTC -3'

Sequencing Primer
(F):5'- TGTGGCAAGGCACCTTCC -3'
(R):5'- GGGAAACTCAAGAGTGCCTAC -3'
Posted On 2019-09-13