Incidental Mutation 'R4236:Pde3b'
ID 321122
Institutional Source Beutler Lab
Gene Symbol Pde3b
Ensembl Gene ENSMUSG00000030671
Gene Name phosphodiesterase 3B, cGMP-inhibited
Synonyms 9830102A01Rik
MMRRC Submission 041053-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4236 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 114014388-114137173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114120923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 683 (T683A)
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: T683A

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: T683A

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
Meta Mutation Damage Score 0.0607 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 96% (49/51)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Abca13 A T 11: 9,206,205 (GRCm39) K168N probably damaging Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cela1 T C 15: 100,580,794 (GRCm39) Y91C probably damaging Het
Chrnb3 C A 8: 27,884,021 (GRCm39) L253M probably damaging Het
Col24a1 G T 3: 145,230,037 (GRCm39) G1493* probably null Het
Dnah7a C T 1: 53,486,524 (GRCm39) E3346K probably benign Het
Dock5 A T 14: 67,993,941 (GRCm39) S1845T probably benign Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Eif1ad8 A T 12: 87,563,935 (GRCm39) D90V probably damaging Het
F2rl1 A G 13: 95,649,796 (GRCm39) L362P probably damaging Het
Gal3st2c T C 1: 93,936,463 (GRCm39) F136S probably damaging Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Klhl23 T C 2: 69,654,516 (GRCm39) F129L probably damaging Het
Krt71 T C 15: 101,643,129 (GRCm39) T460A probably benign Het
Madd C T 2: 90,997,373 (GRCm39) R746Q probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Myh6 T G 14: 55,197,819 (GRCm39) M440L probably benign Het
Myh7 T A 14: 55,228,575 (GRCm39) S205C probably benign Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or13a20 T C 7: 140,232,653 (GRCm39) Y254H probably damaging Het
Or1e17 A G 11: 73,831,182 (GRCm39) T37A possibly damaging Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pcdh7 G A 5: 57,876,631 (GRCm39) G62D possibly damaging Het
Plcb2 A T 2: 118,540,047 (GRCm39) L1082Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc6a6 T C 6: 91,718,257 (GRCm39) V357A probably damaging Het
Slitrk6 T C 14: 110,987,580 (GRCm39) E709G probably benign Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tfcp2l1 G A 1: 118,589,795 (GRCm39) R285H probably benign Het
Tmem132d A G 5: 128,509,389 (GRCm39) S14P possibly damaging Het
Tulp2 A G 7: 45,171,298 (GRCm39) K360E probably damaging Het
Vmn1r60 A G 7: 5,547,803 (GRCm39) V99A probably benign Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- GTGAATAGAGTTCTTGCCTGACATTTG -3'
(R):5'- GTCAGTTATTAACACCAGGTAACAG -3'

Sequencing Primer
(F):5'- CCTGACATTTGGGAGGCCTG -3'
(R):5'- CCAGGTATACCATTACTCACA -3'
Posted On 2015-06-12