Incidental Mutation 'R9085:Pde4dip'
ID 690512
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 068904-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9085 (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 C at 97601385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 2344 (N2344S)
Ref Sequence ENSEMBL: ENSMUSP00000088254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090750] [ENSMUST00000168438]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000090750
AA Change: N2344S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088254
Gene: ENSMUSG00000038170
AA Change: N2344S

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
AA Change: N2293S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131170
Gene: ENSMUSG00000038170
AA Change: N2293S

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: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l G A 10: 42,194,637 (GRCm39) T385M probably damaging Het
Arhgap29 T A 3: 121,808,249 (GRCm39) D1142E probably benign Het
Ash1l C T 3: 88,889,294 (GRCm39) A391V probably benign Het
Ash1l T C 3: 88,891,529 (GRCm39) V1136A probably benign Het
Cacna1c G T 6: 118,615,466 (GRCm39) Y1308* probably null Het
Cacna1g A T 11: 94,334,046 (GRCm39) V865E probably benign Het
Cbx2 C T 11: 118,919,914 (GRCm39) T493M possibly damaging Het
Cyp2a12 T C 7: 26,735,944 (GRCm39) F451S probably damaging Het
Dlec1 G T 9: 118,953,252 (GRCm39) C572F probably damaging Het
Dmtn A G 14: 70,853,534 (GRCm39) S92P probably damaging Het
Dnah10 T C 5: 124,839,237 (GRCm39) L1225P Het
Dnah2 G T 11: 69,320,224 (GRCm39) H3954Q possibly damaging Het
Dntt C T 19: 41,044,220 (GRCm39) R462C probably damaging Het
Emc1 T C 4: 139,094,474 (GRCm39) Y676H possibly damaging Het
Epb41l4b A T 4: 57,041,064 (GRCm39) probably null Het
Fer T A 17: 64,228,767 (GRCm39) M214K probably damaging Het
Fgf17 A G 14: 70,874,436 (GRCm39) F129L probably damaging Het
Foxn3 C T 12: 99,355,095 (GRCm39) S23N probably damaging Het
Frmd4b A C 6: 97,269,334 (GRCm39) S993A probably benign Het
Gdap1l1 T C 2: 163,280,508 (GRCm39) W15R probably damaging Het
Golga5 T A 12: 102,458,476 (GRCm39) S640T probably benign Het
Gucy2g A T 19: 55,221,597 (GRCm39) Y301* probably null Het
Il31ra T C 13: 112,660,628 (GRCm39) S654G Het
Lmnb2 T C 10: 80,740,091 (GRCm39) D442G probably benign Het
Lpin1 T C 12: 16,623,715 (GRCm39) Y223C Het
Lrrc37 A G 11: 103,507,565 (GRCm39) Y1468H unknown Het
Mast3 A T 8: 71,249,361 (GRCm39) W53R unknown Het
Mettl2 T C 11: 105,021,274 (GRCm39) V180A possibly damaging Het
Mospd3 C T 5: 137,598,870 (GRCm39) probably benign Het
Mrpl18 A T 17: 13,134,582 (GRCm39) V61E probably damaging Het
Mrtfb A C 16: 13,230,092 (GRCm39) T926P probably damaging Het
Muc2 T A 7: 141,287,058 (GRCm39) C154S probably damaging Het
Mypn T G 10: 62,983,894 (GRCm39) probably null Het
Nelfb C T 2: 25,094,292 (GRCm39) C357Y probably damaging Het
Nes T G 3: 87,887,069 (GRCm39) V1776G possibly damaging Het
Nin T A 12: 70,076,786 (GRCm39) R1797* probably null Het
Nxpe2 A T 9: 48,250,872 (GRCm39) I25K probably benign Het
Or4a39 A G 2: 89,236,641 (GRCm39) S261P probably damaging Het
Or5ak24 T A 2: 85,260,619 (GRCm39) T185S probably benign Het
Osbpl1a T C 18: 13,062,093 (GRCm39) H60R probably damaging Het
Papss1 C A 3: 131,324,817 (GRCm39) H425N probably damaging Het
Pde6c G A 19: 38,166,569 (GRCm39) V704I probably benign Het
Pknox1 C T 17: 31,822,229 (GRCm39) T332M possibly damaging Het
Pla2r1 A T 2: 60,255,791 (GRCm39) V1251D probably damaging Het
Plch2 T C 4: 155,084,976 (GRCm39) D321G probably damaging Het
Plec A G 15: 76,057,275 (GRCm39) S4221P probably damaging Het
Psg23 T G 7: 18,348,660 (GRCm39) N49T possibly damaging Het
Qrfpr A G 3: 36,276,099 (GRCm39) F97S probably damaging Het
Rab3ip G A 10: 116,775,310 (GRCm39) S16L probably damaging Het
Rbm43 A G 2: 51,824,930 (GRCm39) probably benign Het
Rpgrip1l T C 8: 92,014,303 (GRCm39) N314D possibly damaging Het
Rpn2 C T 2: 157,125,567 (GRCm39) T26I possibly damaging Het
Rsph6a A T 7: 18,799,250 (GRCm39) N294Y probably damaging Het
Serpinb9h T C 13: 33,581,781 (GRCm39) Y113H probably damaging Het
Sesn1 C T 10: 41,686,835 (GRCm39) probably benign Het
Sh3d19 T C 3: 86,033,992 (GRCm39) Y782H probably damaging Het
Sh3rf1 C A 8: 61,802,493 (GRCm39) D275E probably benign Het
Siglecg T C 7: 43,061,049 (GRCm39) V374A probably benign Het
Slc6a11 A T 6: 114,202,808 (GRCm39) I301F probably damaging Het
Spock1 A T 13: 57,570,956 (GRCm39) F348I unknown Het
Sptlc2 T C 12: 87,382,839 (GRCm39) K422E probably benign Het
Tas2r115 A T 6: 132,714,327 (GRCm39) V208E probably benign Het
Tmem132a G T 19: 10,843,835 (GRCm39) Q174K probably damaging Het
Tmtc1 A T 6: 148,237,749 (GRCm39) Y338* probably null Het
Tnfaip1 G T 11: 78,420,965 (GRCm39) L32I probably damaging Het
Tox2 T C 2: 163,067,481 (GRCm39) C67R probably benign Het
Ube2o C T 11: 116,436,209 (GRCm39) G311S probably damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vav3 C T 3: 109,413,722 (GRCm39) A220V probably benign Het
Xaf1 A G 11: 72,197,419 (GRCm39) K132E probably benign Het
Zeb1 T C 18: 5,766,716 (GRCm39) L409S probably damaging Het
Zfp51 T A 17: 21,684,660 (GRCm39) L425H 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
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'- TTGCCATATAACCCCGGACC -3'
(R):5'- TCTAGACAAAGGGACCAGCTG -3'

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