Incidental Mutation 'IGL02719:Pde3b'
ID 304910
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 # IGL02719
Quality Score
Status
Chromosome 7
Chromosomal Location 114014388-114137173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114105483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 472 (S472T)
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: S472T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: S472T

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: ENSMUST00000140007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210411
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,632,150 (GRCm39) D160G probably damaging Het
Aak1 A G 6: 86,936,152 (GRCm39) probably benign Het
Anp32e A G 3: 95,845,224 (GRCm39) probably benign Het
Aspscr1 T A 11: 120,568,405 (GRCm39) L61Q probably damaging Het
Btrc A G 19: 45,491,589 (GRCm39) I89M probably damaging Het
Ccdc175 G A 12: 72,221,899 (GRCm39) T141M probably damaging Het
Cep70 G A 9: 99,157,775 (GRCm39) V225I probably damaging Het
Cilk1 A G 9: 78,047,301 (GRCm39) E67G probably damaging Het
Col4a1 T C 8: 11,281,950 (GRCm39) probably benign Het
Cpne1 T C 2: 155,920,137 (GRCm39) Y214C probably damaging Het
Crtc3 T C 7: 80,268,406 (GRCm39) probably null Het
Cul2 C T 18: 3,434,052 (GRCm39) A683V probably damaging Het
Ddx47 A G 6: 134,994,114 (GRCm39) N131D probably benign Het
Dnah7b T G 1: 46,138,768 (GRCm39) probably benign Het
Dnai2 T C 11: 114,642,737 (GRCm39) L446P probably damaging Het
Ergic2 T C 6: 148,106,317 (GRCm39) T58A possibly damaging Het
Erlin2 A G 8: 27,519,703 (GRCm39) probably benign Het
Fermt2 T C 14: 45,742,113 (GRCm39) T78A probably damaging Het
Flg2 G T 3: 93,127,438 (GRCm39) G97* probably null Het
Gm7356 A G 17: 14,221,537 (GRCm39) I164T probably damaging Het
Gucy1a2 T A 9: 3,894,719 (GRCm39) probably benign Het
Heatr5b C T 17: 79,122,969 (GRCm39) R670H probably damaging Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Itpkc A T 7: 26,927,475 (GRCm39) D146E possibly damaging Het
Kcnk3 T C 5: 30,779,324 (GRCm39) F125L probably damaging Het
Kif12 T A 4: 63,086,033 (GRCm39) M411L probably benign Het
Krtap24-1 T C 16: 88,409,094 (GRCm39) S11G probably benign Het
Lilra6 A T 7: 3,915,991 (GRCm39) H289Q possibly damaging Het
Musk A C 4: 58,356,496 (GRCm39) N469H probably benign Het
Myom1 A G 17: 71,413,349 (GRCm39) probably benign Het
Nagpa A G 16: 5,019,357 (GRCm39) V46A possibly damaging Het
Or4k37 T A 2: 111,159,590 (GRCm39) Y275* probably null Het
Or5h25 T A 16: 58,930,536 (GRCm39) T146S probably benign Het
Or8g17 T C 9: 38,930,312 (GRCm39) N175S probably benign Het
Parp6 T A 9: 59,538,021 (GRCm39) V222E probably benign Het
Peak1 A G 9: 56,134,490 (GRCm39) S1314P probably damaging Het
Pgc A G 17: 48,039,792 (GRCm39) Y62C probably damaging Het
Pitpnm2 A G 5: 124,278,665 (GRCm39) C189R probably damaging Het
Pla2g15 G T 8: 106,886,828 (GRCm39) Q106H probably benign Het
Pla2g4c T A 7: 13,064,019 (GRCm39) S93T probably damaging Het
Rbks G T 5: 31,809,145 (GRCm39) probably benign Het
Retsat A G 6: 72,580,642 (GRCm39) T207A possibly damaging Het
Slc25a32 A G 15: 38,963,300 (GRCm39) Y174H probably benign Het
Slc35f2 T A 9: 53,717,026 (GRCm39) probably benign Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sos2 A G 12: 69,663,958 (GRCm39) Y476H probably benign Het
Ssh2 A T 11: 77,316,413 (GRCm39) N296I probably damaging Het
Sspo G T 6: 48,459,601 (GRCm39) R3320L probably benign Het
Synj2 A G 17: 6,047,192 (GRCm39) I166V probably benign Het
Tpp2 T C 1: 43,979,391 (GRCm39) V96A probably benign Het
Vmn2r3 A T 3: 64,183,031 (GRCm39) W223R probably damaging Het
Wdr17 T C 8: 55,146,089 (GRCm39) probably null Het
Zfr2 T A 10: 81,080,546 (GRCm39) C407S 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
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
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