Incidental Mutation 'IGL02004:Pde3b'
ID 182214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde3b
Ensembl Gene ENSMUSG00000030671
Gene Name phosphodiesterase 3B, cGMP-inhibited
Synonyms 9830102A01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02004
Quality Score
Status
Chromosome 7
Chromosomal Location 114014388-114137173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114118852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 664 (M664L)
Ref Sequence ENSEMBL: ENSMUSP00000032909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032909]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000032909
AA Change: M664L

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: M664L

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
transmembrane domain 73 90 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 171 190 N/A INTRINSIC
transmembrane domain 197 219 N/A INTRINSIC
low complexity region 490 504 N/A INTRINSIC
HDc 710 927 7.52e-4 SMART
low complexity region 991 1023 N/A INTRINSIC
low complexity region 1048 1067 N/A INTRINSIC
low complexity region 1081 1096 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149455
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutants show abnormalities in glycerol and fatty acid levels, along with changes in adipocyte morphology and decreased body fat percentage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G T 11: 72,082,423 (GRCm39) A301E possibly damaging Het
C4b A T 17: 34,957,984 (GRCm39) probably benign Het
Cep85 A G 4: 133,894,698 (GRCm39) V36A probably damaging Het
Cnot10 A T 9: 114,451,998 (GRCm39) F259L probably damaging Het
Crim1 T C 17: 78,680,004 (GRCm39) probably benign Het
Crispld1 G A 1: 17,817,744 (GRCm39) A216T probably damaging Het
Cyp8b1 T C 9: 121,744,058 (GRCm39) I425V probably benign Het
Fat2 A T 11: 55,173,666 (GRCm39) V2349D probably damaging Het
Fer G T 17: 64,231,174 (GRCm39) probably null Het
Galnt3 T C 2: 65,926,270 (GRCm39) T313A probably damaging Het
Hsd3b9 T A 3: 98,363,735 (GRCm39) R37W probably damaging Het
Igkv10-94 A T 6: 68,681,928 (GRCm39) L12* probably null Het
Kcnj3 G A 2: 55,327,243 (GRCm39) D11N probably benign Het
Kit T A 5: 75,781,674 (GRCm39) S368T probably benign Het
Mark1 G A 1: 184,644,786 (GRCm39) S390L possibly damaging Het
Mpped1 C A 15: 83,684,357 (GRCm39) S126R probably damaging Het
Myh15 A C 16: 48,930,892 (GRCm39) probably benign Het
Nat1 G A 8: 67,943,878 (GRCm39) E85K probably benign Het
Or9q1 T C 19: 13,805,427 (GRCm39) D111G possibly damaging Het
Phrf1 A G 7: 140,840,246 (GRCm39) D1147G probably benign Het
Pth1r G T 9: 110,571,376 (GRCm39) probably benign Het
Shank3 C T 15: 89,387,502 (GRCm39) probably benign Het
Slc39a7 A C 17: 34,250,095 (GRCm39) probably benign Het
Slc6a1 A G 6: 114,291,286 (GRCm39) T520A probably benign Het
St3gal2 C A 8: 111,696,804 (GRCm39) A317E probably damaging Het
St3gal3 C A 4: 117,817,236 (GRCm39) L139F possibly damaging Het
Sval3 T A 6: 41,949,776 (GRCm39) probably benign Het
Syvn1 G A 19: 6,102,437 (GRCm39) A502T probably benign Het
Tm4sf1 T C 3: 57,200,499 (GRCm39) I68V possibly damaging Het
Tnrc6a T A 7: 122,780,589 (GRCm39) N1326K possibly damaging Het
Tvp23b G A 11: 62,782,826 (GRCm39) C174Y probably damaging Het
Zfp750 T C 11: 121,402,975 (GRCm39) D591G probably benign Het
Other mutations in Pde3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01509:Pde3b APN 7 114,117,645 (GRCm39) missense probably benign 0.00
IGL01637:Pde3b APN 7 114,126,136 (GRCm39) nonsense probably null
IGL02113:Pde3b APN 7 114,126,141 (GRCm39) missense probably damaging 1.00
IGL02201:Pde3b APN 7 114,133,843 (GRCm39) missense probably damaging 1.00
IGL02266:Pde3b APN 7 114,126,201 (GRCm39) missense probably damaging 1.00
IGL02601:Pde3b APN 7 114,122,577 (GRCm39) missense probably damaging 1.00
IGL02641:Pde3b APN 7 114,130,052 (GRCm39) missense probably damaging 1.00
IGL02671:Pde3b APN 7 114,122,580 (GRCm39) missense possibly damaging 0.77
IGL02691:Pde3b APN 7 114,107,320 (GRCm39) splice site probably benign
IGL02719:Pde3b APN 7 114,105,483 (GRCm39) missense probably damaging 1.00
IGL03092:Pde3b APN 7 114,122,583 (GRCm39) missense probably damaging 1.00
FR4342:Pde3b UTSW 7 114,134,010 (GRCm39) small insertion probably benign
R0208:Pde3b UTSW 7 114,097,216 (GRCm39) missense probably benign 0.00
R1191:Pde3b UTSW 7 114,118,810 (GRCm39) missense probably benign 0.01
R1514:Pde3b UTSW 7 114,130,001 (GRCm39) missense probably damaging 0.98
R1612:Pde3b UTSW 7 114,118,791 (GRCm39) nonsense probably null
R2081:Pde3b UTSW 7 114,122,657 (GRCm39) missense probably benign
R2433:Pde3b UTSW 7 114,126,072 (GRCm39) missense probably benign 0.30
R2508:Pde3b UTSW 7 114,126,092 (GRCm39) nonsense probably null
R3842:Pde3b UTSW 7 114,126,102 (GRCm39) missense probably damaging 1.00
R4082:Pde3b UTSW 7 114,093,823 (GRCm39) missense probably benign 0.04
R4115:Pde3b UTSW 7 114,120,962 (GRCm39) missense probably damaging 1.00
R4197:Pde3b UTSW 7 114,130,107 (GRCm39) splice site probably benign
R4236:Pde3b UTSW 7 114,120,923 (GRCm39) missense possibly damaging 0.62
R4355:Pde3b UTSW 7 114,015,522 (GRCm39) missense probably benign
R4411:Pde3b UTSW 7 114,133,984 (GRCm39) small deletion probably benign
R4430:Pde3b UTSW 7 114,133,905 (GRCm39) missense probably damaging 1.00
R4901:Pde3b UTSW 7 114,107,425 (GRCm39) missense probably damaging 0.99
R4969:Pde3b UTSW 7 114,118,847 (GRCm39) missense possibly damaging 0.92
R5314:Pde3b UTSW 7 114,093,772 (GRCm39) missense probably damaging 1.00
R5346:Pde3b UTSW 7 114,105,425 (GRCm39) missense probably benign 0.00
R5706:Pde3b UTSW 7 114,120,927 (GRCm39) missense probably damaging 1.00
R5844:Pde3b UTSW 7 114,108,106 (GRCm39) missense probably benign 0.01
R6014:Pde3b UTSW 7 114,015,675 (GRCm39) missense probably damaging 1.00
R6048:Pde3b UTSW 7 114,107,502 (GRCm39) missense probably benign 0.00
R6190:Pde3b UTSW 7 114,122,267 (GRCm39) splice site probably null
R7220:Pde3b UTSW 7 114,135,297 (GRCm39) missense probably damaging 0.97
R7239:Pde3b UTSW 7 114,015,384 (GRCm39) missense probably damaging 0.99
R7818:Pde3b UTSW 7 114,090,675 (GRCm39) missense probably damaging 0.99
R7869:Pde3b UTSW 7 114,093,922 (GRCm39) missense probably benign 0.03
R8443:Pde3b UTSW 7 114,126,129 (GRCm39) missense probably damaging 0.99
R8483:Pde3b UTSW 7 114,118,803 (GRCm39) missense probably benign 0.15
R8516:Pde3b UTSW 7 114,126,084 (GRCm39) missense probably benign 0.01
R8754:Pde3b UTSW 7 114,015,278 (GRCm39) missense possibly damaging 0.90
R9017:Pde3b UTSW 7 114,015,695 (GRCm39) nonsense probably null
R9221:Pde3b UTSW 7 114,014,697 (GRCm39) start gained probably benign
R9302:Pde3b UTSW 7 114,122,621 (GRCm39) missense probably damaging 1.00
R9799:Pde3b UTSW 7 114,122,613 (GRCm39) missense probably damaging 1.00
RF051:Pde3b UTSW 7 114,134,010 (GRCm39) small insertion probably benign
Posted On 2014-05-07