Incidental Mutation 'R9103:Pde4dip'
ID 691797
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9103 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 97597144-97796023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97749044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 99 (S99N)
Ref Sequence ENSEMBL: ENSMUSP00000088254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090750] [ENSMUST00000107038] [ENSMUST00000168438]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000090750
AA Change: S99N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088254
Gene: ENSMUSG00000038170
AA Change: S99N

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 damaging
Transcript: ENSMUST00000107038
AA Change: S45N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102653
Gene: ENSMUSG00000038170
AA Change: S45N

DomainStartEndE-ValueType
Pfam:Microtub_assoc 70 144 7.8e-32 PFAM
low complexity region 150 165 N/A INTRINSIC
coiled coil region 228 271 N/A INTRINSIC
internal_repeat_1 343 384 5.54e-5 PROSPERO
low complexity region 513 524 N/A INTRINSIC
internal_repeat_1 566 607 5.54e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000168438
AA Change: S99N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131170
Gene: ENSMUSG00000038170
AA Change: S99N

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,454,558 (GRCm39) C458* probably null Het
Adgra2 G A 8: 27,603,436 (GRCm39) G407D probably damaging Het
Aox4 G A 1: 58,296,441 (GRCm39) G1046E probably damaging Het
Arhgap27 A G 11: 103,251,540 (GRCm39) Y63H probably damaging Het
Ascl3 A T 7: 109,327,127 (GRCm39) M64K probably benign Het
Cacna2d3 G A 14: 29,068,971 (GRCm39) T252I probably damaging Het
Capn7 A G 14: 31,091,732 (GRCm39) T710A probably benign Het
Carmil1 A G 13: 24,295,836 (GRCm39) C393R probably benign Het
Chd5 A C 4: 152,461,444 (GRCm39) E1215A possibly damaging Het
Cntnap1 A G 11: 101,072,094 (GRCm39) N449S probably benign Het
Cpz G A 5: 35,675,054 (GRCm39) S65L probably benign Het
Cyp2c68 T A 19: 39,727,625 (GRCm39) N118I possibly damaging Het
Ddx25 A T 9: 35,458,085 (GRCm39) F345I probably benign Het
Dennd2d T C 3: 106,397,684 (GRCm39) Y161H Het
Egfl8 C T 17: 34,833,210 (GRCm39) D179N probably benign Het
Eif2a A G 3: 58,452,461 (GRCm39) N174S Het
Farp1 C T 14: 121,509,104 (GRCm39) H643Y possibly damaging Het
Fat1 G T 8: 45,404,850 (GRCm39) V534L probably benign Het
Fbxo48 A G 11: 16,903,556 (GRCm39) T61A probably benign Het
Fnbp4 A G 2: 90,608,187 (GRCm39) T970A probably benign Het
Foxd1 T A 13: 98,491,763 (GRCm39) D212E possibly damaging Het
Fstl4 C A 11: 52,664,696 (GRCm39) H9N probably benign Het
Fyb1 A G 15: 6,673,232 (GRCm39) D622G possibly damaging Het
Gm4787 T A 12: 81,425,489 (GRCm39) H223L probably benign Het
Grin3a A G 4: 49,771,179 (GRCm39) V531A probably damaging Het
Gzmb T C 14: 56,498,622 (GRCm39) D42G probably benign Het
Herc2 T A 7: 55,784,803 (GRCm39) Y1416N possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hsd17b6 A G 10: 127,833,876 (GRCm39) W2R probably damaging Het
Hspa4l T C 3: 40,715,349 (GRCm39) probably null Het
Igtp A G 11: 58,097,726 (GRCm39) E299G Het
Klhl28 T C 12: 64,990,300 (GRCm39) D547G possibly damaging Het
Leng8 G C 7: 4,146,897 (GRCm39) R473P probably damaging Het
Lin37 T A 7: 30,257,055 (GRCm39) N53Y possibly damaging Het
Lrp1 G A 10: 127,430,979 (GRCm39) Q357* probably null Het
Lrrfip2 A T 9: 111,034,840 (GRCm39) K176N probably damaging Het
Ltbp4 A G 7: 27,028,186 (GRCm39) S390P unknown Het
Map3k2 G A 18: 32,353,625 (GRCm39) R465H possibly damaging Het
Mthfd1 T A 12: 76,350,517 (GRCm39) V665E probably damaging Het
Myh3 A T 11: 66,989,451 (GRCm39) I1524F probably benign Het
Myo1g A G 11: 6,466,153 (GRCm39) S339P possibly damaging Het
Nf1 A G 11: 79,450,332 (GRCm39) K506R probably damaging Het
Nudt21 A G 8: 94,746,321 (GRCm39) I225T probably benign Het
Or4c31 A G 2: 88,291,942 (GRCm39) K105R probably benign Het
Or56b1b A T 7: 108,164,780 (GRCm39) L74Q probably benign Het
Or5g9 T A 2: 85,552,527 (GRCm39) Y259* probably null Het
Or8b3 A G 9: 38,314,518 (GRCm39) Y116C probably damaging Het
Or8c18 A T 9: 38,203,969 (GRCm39) I243F probably damaging Het
Pax2 C T 19: 44,806,968 (GRCm39) T299I probably benign Het
Pdlim5 T A 3: 142,010,174 (GRCm39) H147L possibly damaging Het
Pfkfb3 T A 2: 11,487,381 (GRCm39) Y343F probably damaging Het
Phf10 A G 17: 15,174,382 (GRCm39) I232T probably damaging Het
Plcb3 C T 19: 6,936,288 (GRCm39) G745D probably benign Het
Pramel11 G A 4: 143,624,381 (GRCm39) L39F probably damaging Het
Recql C A 6: 142,322,515 (GRCm39) C129F possibly damaging Het
Rrp1 C T 10: 78,240,876 (GRCm39) D288N unknown Het
Samd4 T C 14: 47,254,066 (GRCm39) Y177H probably benign Het
Sim1 T A 10: 50,785,525 (GRCm39) M198K possibly damaging Het
Six4 T C 12: 73,155,964 (GRCm39) I334M probably damaging Het
Slc27a6 T C 18: 58,705,268 (GRCm39) S217P probably damaging Het
Slc2a4 T A 11: 69,836,218 (GRCm39) K264N probably benign Het
Slc8b1 A T 5: 120,670,939 (GRCm39) I476F probably benign Het
Smcp T C 3: 92,491,838 (GRCm39) D3G unknown Het
Tagap A T 17: 8,152,335 (GRCm39) M507L probably benign Het
Thap11 A G 8: 106,582,780 (GRCm39) E263G probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Top3a T G 11: 60,654,253 (GRCm39) probably null Het
Ube2q2l T A 6: 136,378,011 (GRCm39) D273V probably benign Het
Vmn1r31 A G 6: 58,449,073 (GRCm39) V264A unknown Het
Vti1a A C 19: 55,316,865 (GRCm39) M81L probably benign Het
Wscd1 T C 11: 71,674,245 (GRCm39) probably null Het
Zfp595 T C 13: 67,464,676 (GRCm39) E532G probably damaging Het
Zranb1 T A 7: 132,584,167 (GRCm39) V539D 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
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
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'- TGCATACATTCTCAAAAGGGTCAC -3'
(R):5'- AGCCCCACATACGATATTGTGTG -3'

Sequencing Primer
(F):5'- CTCAAAAGGGTCACCATTATGATG -3'
(R):5'- CCCACATACGATATTGTGTGTAAATC -3'
Posted On 2021-12-30