Incidental Mutation 'R9500:Pde4dip'
ID 717475
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 # R9500 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 97597144-97796023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97795896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 31 (S31P)
Ref Sequence ENSEMBL: ENSMUSP00000088254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090750] [ENSMUST00000168438]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000090750
AA Change: S31P
SMART Domains Protein: ENSMUSP00000088254
Gene: ENSMUSG00000038170
AA Change: S31P

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 unknown
Transcript: ENSMUST00000168438
AA Change: S31P
SMART Domains Protein: ENSMUSP00000131170
Gene: ENSMUSG00000038170
AA Change: S31P

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: 99.6%
  • 20x: 98.8%
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
2310022A10Rik C T 7: 27,265,091 (GRCm39) T107I possibly damaging Het
Acyp1 T A 12: 85,325,786 (GRCm39) Y71F unknown Het
Akap11 A T 14: 78,748,543 (GRCm39) H1281Q Het
Amz1 T C 5: 140,737,975 (GRCm39) Y412H probably benign Het
Anxa10 C T 8: 62,545,545 (GRCm39) M62I probably benign Het
Arhgap25 T C 6: 87,469,184 (GRCm39) K109E probably damaging Het
Arhgap31 T A 16: 38,460,683 (GRCm39) E43D probably damaging Het
Atf6 T C 1: 170,574,708 (GRCm39) M577V probably damaging Het
Auts2 C A 5: 131,505,620 (GRCm39) A82S unknown Het
Bcl3 T C 7: 19,556,602 (GRCm39) M1V probably null Het
Cblb T C 16: 51,959,993 (GRCm39) probably null Het
Cc2d2b T C 19: 40,797,840 (GRCm39) V820A unknown Het
Clint1 T G 11: 45,797,194 (GRCm39) M425R possibly damaging Het
Clvs1 A G 4: 9,429,834 (GRCm39) D279G probably damaging Het
Colec11 A C 12: 28,645,302 (GRCm39) I123S probably damaging Het
Crebbp C T 16: 3,911,355 (GRCm39) E1460K probably damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dcaf8 C G 1: 171,999,909 (GRCm39) S22R possibly damaging Het
Dmxl1 T C 18: 50,011,271 (GRCm39) S1143P probably damaging Het
Dnhd1 T C 7: 105,353,709 (GRCm39) I2954T probably benign Het
Dop1b C T 16: 93,607,171 (GRCm39) P2275L probably benign Het
Drc3 A G 11: 60,261,334 (GRCm39) S162G probably benign Het
Ehd2 T C 7: 15,686,077 (GRCm39) I332V possibly damaging Het
Eml1 T A 12: 108,493,958 (GRCm39) D584E probably damaging Het
Eogt T C 6: 97,096,992 (GRCm39) T339A probably benign Het
Gbf1 A G 19: 46,258,389 (GRCm39) T949A probably benign Het
Gm11568 GCTGCTGCCAGCCCTGCTGCCAGCCC GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC 11: 99,749,044 (GRCm39) probably benign Het
Gm11568 AGCCC AGCCCTGCTGCCTGCCC 11: 99,749,065 (GRCm39) probably benign Het
Gtpbp10 A T 5: 5,606,120 (GRCm39) C88* probably null Het
Ifit1bl2 A T 19: 34,596,508 (GRCm39) Y369* probably null Het
Igsf6 A G 7: 120,673,697 (GRCm39) L11P probably benign Het
Lars1 A T 18: 42,361,726 (GRCm39) I627N probably damaging Het
Lmo3 G T 6: 138,393,621 (GRCm39) Q11K Het
Mical2 A T 7: 111,936,054 (GRCm39) probably null Het
Mmp23 A G 4: 155,736,567 (GRCm39) V158A probably benign Het
Mmp24 T C 2: 155,654,195 (GRCm39) I391T probably damaging Het
Mrgpra3 A T 7: 47,239,400 (GRCm39) Y175* probably null Het
Mrpl23 G A 7: 142,089,859 (GRCm39) V65M probably damaging Het
Mup1 A G 4: 60,456,488 (GRCm39) L85S possibly damaging Het
Myo15b T C 11: 115,777,466 (GRCm39) L747S probably damaging Het
Nanog G T 6: 122,690,219 (GRCm39) W208L probably damaging Het
Nkg7 A G 7: 43,087,229 (GRCm39) Y112C probably damaging Het
Nup155 A G 15: 8,141,800 (GRCm39) D64G probably damaging Het
Or13p4 A G 4: 118,546,930 (GRCm39) S240P possibly damaging Het
Palm3 T C 8: 84,753,636 (GRCm39) S108P probably damaging Het
Pam T C 1: 97,772,325 (GRCm39) N579D probably benign Het
Pclo A G 5: 14,725,648 (GRCm39) E1502G unknown Het
Peg10 A T 6: 4,756,871 (GRCm39) K482N unknown Het
Phf19 A T 2: 34,801,708 (GRCm39) L34* probably null Het
Pla2g2c A T 4: 138,461,689 (GRCm39) K53* probably null Het
Pla2g4f T A 2: 120,142,713 (GRCm39) probably null Het
Polk G T 13: 96,630,349 (GRCm39) T404K probably damaging Het
Prkdc T A 16: 15,657,079 (GRCm39) V4058D possibly damaging Het
Prox2 T A 12: 85,134,851 (GRCm39) I477F probably damaging Het
Ptk6 A G 2: 180,837,566 (GRCm39) V451A probably benign Het
Ptpn3 C T 4: 57,205,914 (GRCm39) E693K possibly damaging Het
Rag2 G A 2: 101,461,217 (GRCm39) G509D probably damaging Het
Rapgef2 A G 3: 78,974,093 (GRCm39) C1418R probably benign Het
Rev1 A T 1: 38,102,214 (GRCm39) Y716* probably null Het
Rsl1d1 T A 16: 11,011,385 (GRCm39) T440S possibly damaging Het
Samd14 T A 11: 94,914,372 (GRCm39) Y343* probably null Het
Sema3a A T 5: 13,615,854 (GRCm39) D426V possibly damaging Het
Slc7a11 G A 3: 50,382,201 (GRCm39) T182M probably benign Het
Slitrk5 A G 14: 111,916,726 (GRCm39) I117V possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Stil A T 4: 114,878,716 (GRCm39) H384L possibly damaging Het
Suclg2 C A 6: 95,546,666 (GRCm39) R270L probably damaging Het
Taf5 A G 19: 47,065,771 (GRCm39) D492G probably damaging Het
Tes3-ps T A 13: 49,647,815 (GRCm39) Y230* probably null Het
Ttc41 G T 10: 86,565,726 (GRCm39) A427S probably benign Het
Ttn T C 2: 76,553,994 (GRCm39) D30903G probably damaging Het
Txndc16 A T 14: 45,406,798 (GRCm39) L219Q probably null Het
Usp34 T A 11: 23,331,337 (GRCm39) H1098Q probably damaging Het
Vmn2r52 T A 7: 9,905,281 (GRCm39) Y186F probably damaging Het
Zbtb41 T C 1: 139,359,806 (GRCm39) F512S 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
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
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'- CATAGATCTCCTGCCAAGCC -3'
(R):5'- TTGGATGCTCTTCCACGCTG -3'

Sequencing Primer
(F):5'- TGTCTAGCGAACCGTGCAC -3'
(R):5'- TTCCACGCTGGGAGGATG -3'
Posted On 2022-07-18