Incidental Mutation 'R4899:Pde4dip'
ID 375991
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 042503-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4899 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 97597144-97796023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97616874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 1789 (K1789N)
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: K1789N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088254
Gene: ENSMUSG00000038170
AA Change: K1789N

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 probably benign
Transcript: ENSMUST00000168438
SMART Domains Protein: ENSMUSP00000131170
Gene: ENSMUSG00000038170

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 C G 3: 40,860,304 (GRCm39) probably null Het
Adra2c A T 5: 35,437,705 (GRCm39) Y159F probably damaging Het
Alkal2 T A 12: 30,934,972 (GRCm39) S64T probably benign Het
Apbb1ip T C 2: 22,713,361 (GRCm39) V72A unknown Het
Atp13a5 A G 16: 29,197,318 (GRCm39) L13P probably damaging Het
Azin2 G A 4: 128,828,446 (GRCm39) P254S probably benign Het
Bmpr1b T C 3: 141,546,444 (GRCm39) R481G probably damaging Het
Cacna2d4 G A 6: 119,245,157 (GRCm39) W288* probably null Het
Cass4 A G 2: 172,269,789 (GRCm39) T626A probably benign Het
Cep112 T A 11: 108,497,110 (GRCm39) D683E probably damaging Het
Cfap300 A T 9: 8,022,494 (GRCm39) S243T possibly damaging Het
Chat G T 14: 32,170,934 (GRCm39) S188R possibly damaging Het
Cit A G 5: 116,001,087 (GRCm39) Y162C possibly damaging Het
Clca3a1 T A 3: 144,443,722 (GRCm39) Y676F probably damaging Het
Clec2h A G 6: 128,652,787 (GRCm39) N185D probably benign Het
Cnbd2 G T 2: 156,181,141 (GRCm39) V192F probably benign Het
Col6a3 C A 1: 90,730,149 (GRCm39) G1112V probably damaging Het
Csta2 A T 16: 36,077,731 (GRCm39) Y96F possibly damaging Het
Cyp3a25 A G 5: 145,914,481 (GRCm39) F483S possibly damaging Het
Dscam T C 16: 96,485,018 (GRCm39) E1103G probably benign Het
Dync2h1 G A 9: 7,131,921 (GRCm39) Q1629* probably null Het
Enpp6 A G 8: 47,440,118 (GRCm39) Y38C probably damaging Het
Epg5 T A 18: 78,028,272 (GRCm39) L1271Q probably damaging Het
Fam47e G A 5: 92,722,528 (GRCm39) V75I probably benign Het
Fat3 T C 9: 15,881,095 (GRCm39) D3259G probably damaging Het
Fbxw28 T C 9: 109,159,921 (GRCm39) D211G probably damaging Het
Flnc A G 6: 29,446,842 (GRCm39) N990D probably benign Het
Frat1 T G 19: 41,818,761 (GRCm39) L52R probably damaging Het
Ftmt C G 18: 52,464,658 (GRCm39) probably benign Het
H2-M1 C T 17: 36,982,112 (GRCm39) G163D probably benign Het
Hapln1 A G 13: 89,749,769 (GRCm39) K105E possibly damaging Het
Igkv17-127 G T 6: 67,838,381 (GRCm39) A31S probably benign Het
Il6st T C 13: 112,637,695 (GRCm39) L628P probably damaging Het
Kcnj6 A G 16: 94,633,472 (GRCm39) I213T probably damaging Het
Kidins220 T C 12: 25,063,442 (GRCm39) probably null Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Mertk C A 2: 128,625,845 (GRCm39) P660Q probably damaging Het
Mrtfa A G 15: 80,902,587 (GRCm39) Y241H probably damaging Het
Mtarc2 A T 1: 184,577,821 (GRCm39) I65N probably damaging Het
Napepld A G 5: 21,888,438 (GRCm39) Y4H probably benign Het
Ncam1 T A 9: 49,456,551 (GRCm39) probably null Het
Nuak2 A T 1: 132,252,724 (GRCm39) K93* probably null Het
Oat A T 7: 132,165,951 (GRCm39) D211E probably benign Het
Or1j19 A G 2: 36,676,810 (GRCm39) Q91R probably benign Het
Or2aj6 G A 16: 19,442,950 (GRCm39) A300V probably benign Het
Or4c109 A C 2: 88,818,454 (GRCm39) L31V probably null Het
Or51b17 A G 7: 103,542,672 (GRCm39) I90T possibly damaging Het
Or7a39 A T 10: 78,715,041 (GRCm39) S12C probably benign Het
Piezo2 T C 18: 63,211,862 (GRCm39) I1322V possibly damaging Het
Pih1d1 A G 7: 44,803,951 (GRCm39) probably benign Het
Plekhd1 T C 12: 80,769,101 (GRCm39) S454P probably damaging Het
Polr2h G A 16: 20,539,303 (GRCm39) V89M probably damaging Het
Pptc7 G A 5: 122,422,780 (GRCm39) G17S possibly damaging Het
Pramel55 T C 5: 95,949,586 (GRCm39) V111A probably benign Het
Ptpra T C 2: 130,386,356 (GRCm39) V602A probably damaging Het
Rnf123 C T 9: 107,940,879 (GRCm39) R654H probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Samsn1 A G 16: 75,675,991 (GRCm39) S135P probably damaging Het
Sgsm3 A G 15: 80,890,980 (GRCm39) N147S probably benign Het
Shoc1 T C 4: 59,062,640 (GRCm39) Y872C probably damaging Het
Slc22a29 T C 19: 8,138,933 (GRCm39) T510A probably benign Het
Smc4 T A 3: 68,939,144 (GRCm39) H978Q probably damaging Het
Sox7 G A 14: 64,185,927 (GRCm39) R321H probably damaging Het
Spred3 T C 7: 28,861,258 (GRCm39) D307G probably damaging Het
Syne2 T A 12: 75,900,875 (GRCm39) D11E probably benign Het
Tob1 ACAGCAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCA 11: 94,105,278 (GRCm39) probably benign Het
Top2b A T 14: 16,387,313 (GRCm38) I134F probably damaging Het
Tspan1 T A 4: 116,020,563 (GRCm39) R206* probably null Het
Ttc3 A T 16: 94,230,314 (GRCm39) N837I probably damaging Het
Vmn1r36 T C 6: 66,693,549 (GRCm39) T72A possibly damaging Het
Vmn2r10 A G 5: 109,151,324 (GRCm39) S97P probably damaging Het
Zfp2 T A 11: 50,790,841 (GRCm39) I401F probably damaging Het
Zfp629 T C 7: 127,210,190 (GRCm39) T540A possibly damaging Het
Zfr G A 15: 12,166,231 (GRCm39) V834I probably benign 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
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
R7354:Pde4dip UTSW 3 97,626,646 (GRCm39) missense probably damaging 0.99
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'- TAGGACATGATAGATTCTGGCTTCC -3'
(R):5'- TGCAATAGGTCCTTGTCCCTG -3'

Sequencing Primer
(F):5'- CTGGCTTCCAGCAGTTTCCAC -3'
(R):5'- TGGGGCCTTCCATGACAG -3'
Posted On 2016-03-17