Incidental Mutation 'R0241:Pde7b'
ID66195
Institutional Source Beutler Lab
Gene Symbol Pde7b
Ensembl Gene ENSMUSG00000019990
Gene Namephosphodiesterase 7B
Synonyms
MMRRC Submission 038479-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0241 (G1)
Quality Score128
Status Not validated
Chromosome10
Chromosomal Location20398004-20725078 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20436216 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 239 (C239R)
Ref Sequence ENSEMBL: ENSMUSP00000126913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020165] [ENSMUST00000164195] [ENSMUST00000169016] [ENSMUST00000169404] [ENSMUST00000170265]
Predicted Effect probably damaging
Transcript: ENSMUST00000020165
AA Change: C187R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020165
Gene: ENSMUSG00000019990
AA Change: C187R

DomainStartEndE-ValueType
HDc 170 337 9.04e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164195
AA Change: C239R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126913
Gene: ENSMUSG00000019990
AA Change: C239R

DomainStartEndE-ValueType
HDc 222 389 9.04e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169016
SMART Domains Protein: ENSMUSP00000130596
Gene: ENSMUSG00000019990

DomainStartEndE-ValueType
low complexity region 103 116 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169404
AA Change: C239R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132378
Gene: ENSMUSG00000019990
AA Change: C239R

DomainStartEndE-ValueType
HDc 222 389 9.04e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170265
AA Change: C200R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126324
Gene: ENSMUSG00000019990
AA Change: C200R

DomainStartEndE-ValueType
low complexity region 26 38 N/A INTRINSIC
HDc 183 350 9.04e-7 SMART
Meta Mutation Damage Score 0.9184 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.1%
  • 10x: 89.8%
  • 20x: 65.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,583,818 V380E probably benign Het
Anapc1 A T 2: 128,628,629 M1527K possibly damaging Het
Bicra A T 7: 15,975,145 M1188K probably damaging Het
Brd7 G A 8: 88,345,850 R331W probably benign Het
Cactin A G 10: 81,322,652 T151A probably benign Het
Cadps G A 14: 12,376,675 T1274M probably damaging Het
Catsper3 T C 13: 55,804,854 M175T probably damaging Het
Chd5 A G 4: 152,366,132 D605G probably damaging Het
Chst12 G A 5: 140,524,299 R227H possibly damaging Het
Cobl A T 11: 12,254,524 V644E probably benign Het
Ddx31 A G 2: 28,848,291 T155A probably damaging Het
Dnah3 T C 7: 119,922,730 Q4069R probably damaging Het
Dnah8 T C 17: 30,765,679 I3117T probably damaging Het
Doc2b A G 11: 75,772,561 V355A probably damaging Het
Dock10 A T 1: 80,578,623 S578T probably benign Het
Fcer2a A G 8: 3,688,796 probably null Het
Fmnl1 G A 11: 103,182,170 probably null Het
Git2 T C 5: 114,733,229 E208G probably damaging Het
Hs6st3 T C 14: 119,138,820 F136L probably benign Het
Hydin G A 8: 110,398,023 V555I probably benign Het
Kmt2b A G 7: 30,577,069 L1726S probably damaging Het
Loxl3 A G 6: 83,050,133 D615G probably damaging Het
Nfasc C A 1: 132,636,993 A70S probably benign Het
Olfr1182 A T 2: 88,446,545 M131K possibly damaging Het
Olfr464 T A 11: 87,914,034 N291Y probably damaging Het
Olfr658 A G 7: 104,645,243 M41T probably benign Het
Olfr998 A G 2: 85,590,810 K90R probably benign Het
Pdzd2 A T 15: 12,367,941 L2654Q probably damaging Het
Pgap1 T C 1: 54,535,951 probably null Het
Proz T A 8: 13,065,356 M124K probably benign Het
Raet1d A G 10: 22,371,429 T135A probably benign Het
Rapgef1 A G 2: 29,702,670 N558S possibly damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Simc1 G T 13: 54,550,525 L1319F probably damaging Het
Sspo A G 6: 48,461,495 E1499G possibly damaging Het
Tas2r118 T C 6: 23,969,339 Y241C probably damaging Het
Tbck A G 3: 132,724,875 E344G probably benign Het
Tcam1 G A 11: 106,284,078 E120K probably benign Het
Tmbim7 A T 5: 3,666,866 Y66F probably benign Het
Vil1 T C 1: 74,426,694 L548P probably damaging Het
Wdr3 A G 3: 100,145,657 V593A probably damaging Het
Zan T C 5: 137,421,822 T2858A unknown Het
Zbtb37 A T 1: 161,020,369 V356E probably benign Het
Zfp36 C T 7: 28,378,334 V50I probably damaging Het
Zfp563 A T 17: 33,104,685 S85C possibly damaging Het
Other mutations in Pde7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Pde7b APN 10 20619129 critical splice donor site probably null
IGL01312:Pde7b APN 10 20436194 critical splice donor site probably null
IGL01728:Pde7b APN 10 20434464 critical splice donor site probably null
IGL01868:Pde7b APN 10 20407165 nonsense probably null
PIT4431001:Pde7b UTSW 10 20400545 missense possibly damaging 0.77
R0241:Pde7b UTSW 10 20436216 missense probably damaging 1.00
R0505:Pde7b UTSW 10 20438746 missense probably damaging 1.00
R1386:Pde7b UTSW 10 20418801 missense probably damaging 1.00
R1518:Pde7b UTSW 10 20548121 missense probably damaging 1.00
R1539:Pde7b UTSW 10 20479686 missense possibly damaging 0.75
R1547:Pde7b UTSW 10 20434594 missense probably damaging 1.00
R1571:Pde7b UTSW 10 20413090 missense probably benign 0.05
R1611:Pde7b UTSW 10 20434490 missense probably benign 0.14
R1722:Pde7b UTSW 10 20436244 missense probably damaging 1.00
R2275:Pde7b UTSW 10 20400419 makesense probably null
R4622:Pde7b UTSW 10 20418792 missense probably damaging 1.00
R4666:Pde7b UTSW 10 20438750 missense probably damaging 1.00
R4757:Pde7b UTSW 10 20547942 missense probably benign 0.01
R4823:Pde7b UTSW 10 20438785 missense probably damaging 1.00
R4889:Pde7b UTSW 10 20548077 missense probably benign 0.16
R4910:Pde7b UTSW 10 20724734 unclassified probably benign
R4923:Pde7b UTSW 10 20413127 missense probably damaging 0.98
R5349:Pde7b UTSW 10 20619186 missense probably damaging 0.99
R6258:Pde7b UTSW 10 20440800 missense possibly damaging 0.93
R6645:Pde7b UTSW 10 20610566 critical splice donor site probably null
R7000:Pde7b UTSW 10 20443292 missense probably damaging 1.00
R7510:Pde7b UTSW 10 20413015 missense possibly damaging 0.83
R7717:Pde7b UTSW 10 20407191 missense probably benign 0.05
R7817:Pde7b UTSW 10 20443305 missense probably damaging 1.00
Predicted Primers
Posted On2013-08-19