Incidental Mutation 'IGL02601:Pde3b'
ID 300056
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 # IGL02601
Quality Score
Status
Chromosome 7
Chromosomal Location 114014388-114137173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 114122577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 715 (R715H)
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: R715H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: R715H

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,293,541 (GRCm39) V57M probably damaging Het
Agap3 A G 5: 24,688,369 (GRCm39) K23E possibly damaging Het
Anln A T 9: 22,249,331 (GRCm39) I132K probably damaging Het
Anxa4 T C 6: 86,737,683 (GRCm39) T13A probably benign Het
Bdp1 A T 13: 100,235,022 (GRCm39) Y191N possibly damaging Het
Carm1 G A 9: 21,498,204 (GRCm39) V403M probably damaging Het
Cbx7 A G 15: 79,807,671 (GRCm39) probably null Het
Chd8 A C 14: 52,451,757 (GRCm39) N16K possibly damaging Het
Crtc3 A T 7: 80,242,315 (GRCm39) D499E probably damaging Het
Cul3 A G 1: 80,249,432 (GRCm39) probably benign Het
D430041D05Rik T C 2: 104,060,631 (GRCm39) D1421G probably damaging Het
Fgb T A 3: 82,952,367 (GRCm39) E167D probably benign Het
Gimap6 T A 6: 48,679,409 (GRCm39) Q209L probably damaging Het
Gm3604 G A 13: 62,517,990 (GRCm39) H123Y possibly damaging Het
Gm5884 A T 6: 128,622,749 (GRCm39) noncoding transcript Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Obox3 T C 7: 15,360,848 (GRCm39) E97G probably damaging Het
Obsl1 T C 1: 75,466,264 (GRCm39) H1488R probably benign Het
Or4e1 A T 14: 52,700,802 (GRCm39) Y221* probably null Het
Or6c75 A G 10: 129,337,723 (GRCm39) *323W probably null Het
Pak5 T A 2: 135,958,855 (GRCm39) K78* probably null Het
Paqr9 A G 9: 95,442,877 (GRCm39) N289S probably damaging Het
Pglyrp2 T C 17: 32,634,835 (GRCm39) H509R probably benign Het
Pik3ap1 A C 19: 41,290,881 (GRCm39) N550K probably benign Het
Pon3 A G 6: 5,221,671 (GRCm39) Y320H probably damaging Het
Ptprt T A 2: 161,608,227 (GRCm39) T690S probably benign Het
Ptprz1 T A 6: 23,000,686 (GRCm39) D925E probably benign Het
Rag1 T C 2: 101,473,018 (GRCm39) D708G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rbmy1b A G Y: 3,774,885 (GRCm39) I27M probably benign Het
Rfx2 G A 17: 57,092,354 (GRCm39) H315Y possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sis T C 3: 72,820,543 (GRCm39) N1407S probably benign Het
Slco1c1 T A 6: 141,490,555 (GRCm39) L261Q probably damaging Het
Sox30 T G 11: 45,875,589 (GRCm39) L447R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssu72 A G 4: 155,789,882 (GRCm39) N15S possibly damaging Het
Stat4 C T 1: 52,137,574 (GRCm39) S455F probably damaging Het
Stk4 T A 2: 163,928,462 (GRCm39) L97Q probably damaging Het
Sulf1 A T 1: 12,856,869 (GRCm39) N40I probably damaging Het
Sympk G A 7: 18,782,794 (GRCm39) V877I probably benign Het
Taar7b A T 10: 23,876,204 (GRCm39) H123L probably damaging Het
Teddm1b A G 1: 153,750,362 (GRCm39) Y57C probably damaging Het
Tep1 A T 14: 51,070,935 (GRCm39) C2121* probably null Het
Tnfsf11 T A 14: 78,537,385 (GRCm39) R93* probably null Het
Tspan12 A C 6: 21,835,378 (GRCm39) probably benign Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Vps4a T C 8: 107,769,693 (GRCm39) I334T probably damaging Het
Zfhx3 T C 8: 109,583,462 (GRCm39) S1110P probably damaging Het
Zfp507 A G 7: 35,491,136 (GRCm39) S716P 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
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
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