Incidental Mutation 'IGL02113:Pde3b'
ID 280240
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 # IGL02113
Quality Score
Status
Chromosome 7
Chromosomal Location 114014388-114137173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 114126141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 792 (V792M)
Ref Sequence ENSEMBL: ENSMUSP00000032909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032909]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032909
AA Change: V792M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: V792M

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,904,127 (GRCm39) H726L possibly damaging Het
Aqr A T 2: 113,950,508 (GRCm39) Y900* probably null Het
Atp11a G T 8: 12,915,048 (GRCm39) R1155S probably benign Het
Bahd1 A G 2: 118,747,686 (GRCm39) D435G probably benign Het
Brca2 A G 5: 150,464,444 (GRCm39) T1403A possibly damaging Het
Cc2d2a T A 5: 43,842,590 (GRCm39) probably null Het
Cog7 A G 7: 121,524,703 (GRCm39) I697T probably damaging Het
Dclre1a A G 19: 56,529,964 (GRCm39) V791A probably damaging Het
Dgki A G 6: 36,890,560 (GRCm39) probably benign Het
Dpyd A G 3: 118,792,868 (GRCm39) Y525C probably benign Het
Eepd1 T C 9: 25,394,009 (GRCm39) L91P probably damaging Het
Foxf1 T A 8: 121,811,304 (GRCm39) L56H probably damaging Het
Fry A T 5: 150,323,070 (GRCm39) M1074L probably benign Het
Gbx1 T C 5: 24,709,874 (GRCm39) T324A probably damaging Het
Gfpt1 T A 6: 87,064,349 (GRCm39) N646K probably benign Het
Gm10258 C T 3: 30,322,542 (GRCm39) probably benign Het
Gm12887 T C 4: 121,473,692 (GRCm39) M53V probably benign Het
Hoxa11 C T 6: 52,222,297 (GRCm39) G135S probably damaging Het
Mettl6 A T 14: 31,204,788 (GRCm39) Y211* probably null Het
Moxd2 T C 6: 40,862,338 (GRCm39) I160M probably benign Het
Mphosph10 G A 7: 64,026,555 (GRCm39) probably benign Het
Mrpl19 T A 6: 81,942,896 (GRCm39) M5L probably benign Het
Nbea A G 3: 55,899,913 (GRCm39) V1412A probably benign Het
Nceh1 G T 3: 27,277,040 (GRCm39) S121I probably damaging Het
Ntan1 A G 16: 13,653,008 (GRCm39) T217A probably damaging Het
Ogfod1 C T 8: 94,790,841 (GRCm39) A504V probably damaging Het
Or52r1c A T 7: 102,735,057 (GRCm39) I111L possibly damaging Het
Pde9a A T 17: 31,678,944 (GRCm39) M262L probably benign Het
Pi4ka A G 16: 17,191,279 (GRCm39) V206A probably benign Het
Pkp1 A T 1: 135,811,652 (GRCm39) N406K possibly damaging Het
Rcn3 A G 7: 44,732,762 (GRCm39) I302T probably damaging Het
Rfx6 A G 10: 51,554,108 (GRCm39) Q68R probably benign Het
Rpgrip1 A G 14: 52,371,301 (GRCm39) D340G possibly damaging Het
Scn10a C T 9: 119,438,956 (GRCm39) G1638S probably damaging Het
Serpinb9f A T 13: 33,518,451 (GRCm39) H317L probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 A G 1: 45,950,054 (GRCm39) I466T probably benign Het
Smyd2 A T 1: 189,614,414 (GRCm39) S371R probably damaging Het
Snap47 A C 11: 59,319,262 (GRCm39) I292S probably damaging Het
Tbx4 A G 11: 85,803,090 (GRCm39) E322G possibly damaging Het
Tg A G 15: 66,577,179 (GRCm39) T1501A probably benign Het
Tmem259 A G 10: 79,814,543 (GRCm39) V300A probably benign Het
Usp7 A G 16: 8,534,377 (GRCm39) probably null Het
Vmn2r94 G T 17: 18,477,937 (GRCm39) T158K probably damaging Het
Vmn2r95 G T 17: 18,660,169 (GRCm39) A194S possibly damaging Het
Zfp944 A T 17: 22,558,047 (GRCm39) I400N possibly damaging Het
Zmynd12 T A 4: 119,291,194 (GRCm39) I53K probably damaging 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
IGL02004:Pde3b APN 7 114,118,852 (GRCm39) missense possibly damaging 0.67
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 2015-04-16