Incidental Mutation 'IGL02301:Pde5a'
ID290296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde5a
Ensembl Gene ENSMUSG00000053965
Gene Namephosphodiesterase 5A, cGMP-specific
SynonymsPDE5A1, Pde5
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.398) question?
Stock #IGL02301
Quality Score
Status
Chromosome3
Chromosomal Location122728947-122859374 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 122760885 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 208 (R208Q)
Ref Sequence ENSEMBL: ENSMUSP00000143042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066728] [ENSMUST00000200389]
Predicted Effect probably damaging
Transcript: ENSMUST00000066728
AA Change: R240Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: R240Q

DomainStartEndE-ValueType
Blast:GAF 64 152 4e-42 BLAST
GAF 154 314 2.23e-31 SMART
GAF 336 503 9.8e-28 SMART
HDc 600 768 8.11e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198314
Predicted Effect probably damaging
Transcript: ENSMUST00000200389
AA Change: R208Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: R208Q

DomainStartEndE-ValueType
Blast:GAF 32 120 3e-42 BLAST
GAF 122 282 1.1e-33 SMART
GAF 304 471 4.7e-30 SMART
HDc 568 736 4.4e-11 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l A G 17: 32,332,926 probably benign Het
Alk T C 17: 71,874,176 Q1373R probably damaging Het
Atf7ip2 T G 16: 10,211,047 S148A probably benign Het
Bpi C T 2: 158,274,814 S377F probably damaging Het
Ccni A T 5: 93,188,175 C122S possibly damaging Het
Cd5l A G 3: 87,365,993 R90G probably benign Het
Ceacam3 C T 7: 17,163,101 S664F probably damaging Het
Clca3a2 A T 3: 144,806,372 D534E probably damaging Het
Ep400 A T 5: 110,674,960 S2524R probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gart A G 16: 91,621,837 probably benign Het
Gm9513 T C 9: 36,477,187 probably benign Het
Gsdmc4 A G 15: 63,895,264 V219A probably benign Het
Hus1 T C 11: 8,996,915 T261A probably benign Het
Lman2l A G 1: 36,443,543 I84T probably damaging Het
Megf8 G A 7: 25,337,900 V742M probably damaging Het
Myo1d A G 11: 80,676,853 V267A probably benign Het
Notch2 A G 3: 98,141,554 T1803A probably benign Het
Olfr1278 T A 2: 111,292,697 M143K probably benign Het
Olfr23 T A 11: 73,941,068 M274K possibly damaging Het
Olfr814 A G 10: 129,874,079 F226S probably damaging Het
Pla2r1 T C 2: 60,452,436 N745S probably benign Het
Ptgdr2 T A 19: 10,940,209 I30N possibly damaging Het
Rap1gap2 G A 11: 74,407,369 T415I probably damaging Het
Slc6a6 T C 6: 91,726,056 Y137H probably benign Het
Sptbn1 A T 11: 30,142,129 D532E probably damaging Het
Stk39 T C 2: 68,211,962 D543G probably damaging Het
Trpc4 G A 3: 54,291,232 V526M probably damaging Het
Trrap A G 5: 144,777,917 I100V probably benign Het
Vmn1r-ps123 A C 13: 22,996,357 noncoding transcript Het
Vwa5b2 G A 16: 20,604,790 G1151D probably damaging Het
Zfp358 T A 8: 3,496,858 I480N probably benign Het
Zfp423 T C 8: 87,781,574 D714G probably damaging Het
Other mutations in Pde5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Pde5a APN 3 122794357 missense probably damaging 1.00
IGL00945:Pde5a APN 3 122835642 critical splice donor site probably null
IGL01395:Pde5a APN 3 122817955 missense probably benign 0.40
IGL01872:Pde5a APN 3 122794369 critical splice donor site probably null
IGL01947:Pde5a APN 3 122835610 missense probably damaging 1.00
IGL02033:Pde5a APN 3 122803061 missense possibly damaging 0.51
IGL02209:Pde5a APN 3 122825015 splice site probably benign
IGL02220:Pde5a APN 3 122748382 missense probably benign 0.05
IGL02748:Pde5a APN 3 122760892 missense probably damaging 0.99
R0009:Pde5a UTSW 3 122824902 splice site probably benign
R0031:Pde5a UTSW 3 122803055 missense probably benign 0.00
R0119:Pde5a UTSW 3 122748458 missense probably damaging 1.00
R0390:Pde5a UTSW 3 122835583 missense probably damaging 1.00
R0481:Pde5a UTSW 3 122818077 splice site probably benign
R0499:Pde5a UTSW 3 122748458 missense probably damaging 1.00
R0657:Pde5a UTSW 3 122748458 missense probably damaging 1.00
R0845:Pde5a UTSW 3 122729331 missense probably benign 0.28
R0908:Pde5a UTSW 3 122779001 missense probably benign 0.01
R1147:Pde5a UTSW 3 122794313 missense probably damaging 1.00
R1147:Pde5a UTSW 3 122794313 missense probably damaging 1.00
R1553:Pde5a UTSW 3 122778936 missense probably benign 0.14
R1728:Pde5a UTSW 3 122748240 missense probably damaging 1.00
R1744:Pde5a UTSW 3 122747897 missense probably damaging 0.97
R1774:Pde5a UTSW 3 122729364 missense probably benign 0.01
R1784:Pde5a UTSW 3 122748240 missense probably damaging 1.00
R2437:Pde5a UTSW 3 122843053 missense probably damaging 1.00
R2844:Pde5a UTSW 3 122851708 missense probably damaging 1.00
R2897:Pde5a UTSW 3 122779002 missense probably benign 0.03
R2936:Pde5a UTSW 3 122794319 missense probably damaging 0.97
R3160:Pde5a UTSW 3 122781628 nonsense probably null
R3162:Pde5a UTSW 3 122781628 nonsense probably null
R3704:Pde5a UTSW 3 122779019 missense probably benign 0.00
R3847:Pde5a UTSW 3 122803160 missense probably damaging 0.98
R3932:Pde5a UTSW 3 122760896 missense probably damaging 0.98
R4387:Pde5a UTSW 3 122729352 missense probably benign 0.00
R4613:Pde5a UTSW 3 122823093 missense probably damaging 1.00
R4676:Pde5a UTSW 3 122747893 missense possibly damaging 0.67
R5034:Pde5a UTSW 3 122852586 missense probably damaging 1.00
R5034:Pde5a UTSW 3 122852587 missense probably damaging 1.00
R5358:Pde5a UTSW 3 122748176 missense probably damaging 1.00
R5394:Pde5a UTSW 3 122818009 missense probably damaging 1.00
R5502:Pde5a UTSW 3 122803032 missense probably damaging 1.00
R5821:Pde5a UTSW 3 122817955 missense probably benign 0.40
R5932:Pde5a UTSW 3 122841044 missense probably benign 0.01
R6063:Pde5a UTSW 3 122824925 missense probably benign 0.23
R6190:Pde5a UTSW 3 122729307 missense probably benign 0.28
R6815:Pde5a UTSW 3 122824924 missense probably benign 0.01
R6940:Pde5a UTSW 3 122779032 missense possibly damaging 0.53
R7274:Pde5a UTSW 3 122855246 nonsense probably null
R7337:Pde5a UTSW 3 122748458 missense probably damaging 1.00
R7384:Pde5a UTSW 3 122825000 missense probably damaging 1.00
Posted On2015-04-16