Incidental Mutation 'R6063:Pde5a'
ID 483896
Institutional Source Beutler Lab
Gene Symbol Pde5a
Ensembl Gene ENSMUSG00000053965
Gene Name phosphodiesterase 5A, cGMP-specific
Synonyms Pde5, PDE5A1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R6063 (G1)
Quality Score 199.009
Status Not validated
Chromosome 3
Chromosomal Location 122522822-122653023 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 122618574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 629 (T629K)
Ref Sequence ENSEMBL: ENSMUSP00000069011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066728] [ENSMUST00000200389]
AlphaFold Q8CG03
PDB Structure Solution Structure of cGMP-binding GAF domain of Phosphodiesterase 5 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000066728
AA Change: T629K

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: T629K

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 probably benign
Transcript: ENSMUST00000200389
AA Change: T597K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: T597K

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,483,318 (GRCm39) R1713C unknown Het
Ano6 C T 15: 95,846,298 (GRCm39) T512I probably damaging Het
Ap3s1 T C 18: 46,887,505 (GRCm39) V46A probably benign Het
Art2a C A 7: 101,204,413 (GRCm39) V42F probably damaging Het
Asph C T 4: 9,531,960 (GRCm39) V386M probably benign Het
B4galnt4 T A 7: 140,644,643 (GRCm39) D179E probably benign Het
Bbx T C 16: 50,071,730 (GRCm39) I232V probably benign Het
C1ql2 A G 1: 120,269,321 (GRCm39) I159V probably benign Het
Ccar1 A G 10: 62,612,496 (GRCm39) V223A possibly damaging Het
Cd2ap A T 17: 43,136,802 (GRCm39) L277I probably benign Het
Cfap44 G A 16: 44,250,255 (GRCm39) E778K probably benign Het
Chd3 A T 11: 69,240,063 (GRCm39) D1626E probably benign Het
Crocc C T 4: 140,769,032 (GRCm39) G505S probably benign Het
Crocc T A 4: 140,773,851 (GRCm39) Q72L probably damaging Het
Drosha T C 15: 12,834,156 (GRCm39) probably benign Het
Eps8l1 T A 7: 4,474,296 (GRCm39) S256T possibly damaging Het
F830045P16Rik A G 2: 129,316,310 (GRCm39) V133A probably damaging Het
Fermt2 A T 14: 45,697,338 (GRCm39) M671K possibly damaging Het
Fhdc1 G A 3: 84,353,336 (GRCm39) L630F probably benign Het
Gon4l T C 3: 88,807,306 (GRCm39) S1667P probably damaging Het
Greb1l A C 18: 10,557,340 (GRCm39) K1780T probably damaging Het
H2-Q10 C T 17: 35,781,026 (GRCm39) T8M probably benign Het
Hmcn2 A T 2: 31,324,725 (GRCm39) T4215S probably benign Het
I0C0044D17Rik G A 4: 98,708,576 (GRCm39) probably benign Het
Ifi204 A G 1: 173,579,223 (GRCm39) F541L probably benign Het
Igkv6-17 C T 6: 70,348,764 (GRCm39) A45V probably damaging Het
Intu G A 3: 40,608,524 (GRCm39) A161T probably damaging Het
Kcnmb2 A G 3: 32,233,141 (GRCm39) Y73C probably damaging Het
Lrit1 T C 14: 36,776,945 (GRCm39) F22L probably benign Het
Lrp1b A T 2: 41,174,156 (GRCm39) C699* probably null Het
Lrrc8d A G 5: 105,959,992 (GRCm39) D134G probably benign Het
Map1b T C 13: 99,567,645 (GRCm39) D1692G unknown Het
Met C T 6: 17,491,967 (GRCm39) S243F probably damaging Het
Mlph C A 1: 90,855,882 (GRCm39) H96Q probably damaging Het
Mycbp2 A T 14: 103,372,582 (GRCm39) V4088D probably damaging Het
Nampt T A 12: 32,898,658 (GRCm39) S425T probably damaging Het
Nts G A 10: 102,320,856 (GRCm39) H78Y probably benign Het
Nxf1 A G 19: 8,745,151 (GRCm39) E467G possibly damaging Het
Olfml2a C A 2: 38,841,155 (GRCm39) D230E probably benign Het
Or4b13 C A 2: 90,082,771 (GRCm39) C187F probably benign Het
Or52n2c C T 7: 104,574,599 (GRCm39) R124H probably benign Het
Pcsk5 A G 19: 17,432,045 (GRCm39) probably null Het
Plcb3 G T 19: 6,940,202 (GRCm39) R462S possibly damaging Het
Pnpla6 T A 8: 3,574,156 (GRCm39) M469K probably benign Het
Pram1 A T 17: 33,860,386 (GRCm39) K318* probably null Het
Prkd1 T C 12: 50,388,826 (GRCm39) R906G probably benign Het
Ptprh T A 7: 4,576,361 (GRCm39) T300S possibly damaging Het
Rdh16f2 A G 10: 127,712,743 (GRCm39) Y247C probably benign Het
Rimbp3 A G 16: 17,028,781 (GRCm39) E735G probably damaging Het
Sall3 G A 18: 81,017,470 (GRCm39) P153S possibly damaging Het
Samd4b T A 7: 28,123,056 (GRCm39) M1L possibly damaging Het
Septin12 T C 16: 4,810,127 (GRCm39) E136G probably damaging Het
Shpk A T 11: 73,104,270 (GRCm39) K140* probably null Het
Sidt1 G T 16: 44,079,829 (GRCm39) F608L probably benign Het
Skint5 A G 4: 113,347,842 (GRCm39) Y1300H probably benign Het
Slc22a28 G A 19: 8,094,386 (GRCm39) P212S probably benign Het
Slc22a5 A T 11: 53,758,359 (GRCm39) F480L possibly damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc3a1 C T 17: 85,335,951 (GRCm39) P31L probably benign Het
Slc4a7 T C 14: 14,793,964 (GRCm38) V1074A possibly damaging Het
Snx2 C T 18: 53,342,697 (GRCm39) Q254* probably null Het
Sox30 G A 11: 45,882,769 (GRCm39) V600I probably benign Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Tdpoz9 A G 3: 93,957,408 (GRCm39) F7L probably benign Het
Tdrd7 A G 4: 46,005,486 (GRCm39) T431A probably benign Het
Tenm2 A T 11: 36,054,544 (GRCm39) probably null Het
Tigar A G 6: 127,068,164 (GRCm39) S85P probably benign Het
Tnr A C 1: 159,740,254 (GRCm39) M1143L probably benign Het
Trio G T 15: 27,891,465 (GRCm39) Q429K possibly damaging Het
Urb1 T C 16: 90,585,985 (GRCm39) I452M probably benign Het
Uroc1 A T 6: 90,324,910 (GRCm39) E461V probably benign Het
Vax1 C A 19: 59,157,036 (GRCm39) R99L unknown Het
Xab2 A T 8: 3,663,051 (GRCm39) I510N possibly damaging Het
Zbtb34 A T 2: 33,301,842 (GRCm39) I233K possibly damaging Het
Zbtb47 A G 9: 121,592,598 (GRCm39) E306G probably benign Het
Zfp27 A G 7: 29,593,727 (GRCm39) F746S probably damaging Het
Zfp719 C T 7: 43,239,050 (GRCm39) Q213* probably null Het
Zswim6 T C 13: 107,865,112 (GRCm39) noncoding transcript Het
Other mutations in Pde5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Pde5a APN 3 122,588,006 (GRCm39) missense probably damaging 1.00
IGL00945:Pde5a APN 3 122,629,291 (GRCm39) critical splice donor site probably null
IGL01395:Pde5a APN 3 122,611,604 (GRCm39) missense probably benign 0.40
IGL01872:Pde5a APN 3 122,588,018 (GRCm39) critical splice donor site probably null
IGL01947:Pde5a APN 3 122,629,259 (GRCm39) missense probably damaging 1.00
IGL02033:Pde5a APN 3 122,596,710 (GRCm39) missense possibly damaging 0.51
IGL02209:Pde5a APN 3 122,618,664 (GRCm39) splice site probably benign
IGL02220:Pde5a APN 3 122,542,031 (GRCm39) missense probably benign 0.05
IGL02301:Pde5a APN 3 122,554,534 (GRCm39) missense probably damaging 1.00
IGL02748:Pde5a APN 3 122,554,541 (GRCm39) missense probably damaging 0.99
R0009:Pde5a UTSW 3 122,618,551 (GRCm39) splice site probably benign
R0031:Pde5a UTSW 3 122,596,704 (GRCm39) missense probably benign 0.00
R0119:Pde5a UTSW 3 122,542,107 (GRCm39) missense probably damaging 1.00
R0390:Pde5a UTSW 3 122,629,232 (GRCm39) missense probably damaging 1.00
R0481:Pde5a UTSW 3 122,611,726 (GRCm39) splice site probably benign
R0499:Pde5a UTSW 3 122,542,107 (GRCm39) missense probably damaging 1.00
R0657:Pde5a UTSW 3 122,542,107 (GRCm39) missense probably damaging 1.00
R0845:Pde5a UTSW 3 122,522,980 (GRCm39) missense probably benign 0.28
R0908:Pde5a UTSW 3 122,572,650 (GRCm39) missense probably benign 0.01
R1147:Pde5a UTSW 3 122,587,962 (GRCm39) missense probably damaging 1.00
R1147:Pde5a UTSW 3 122,587,962 (GRCm39) missense probably damaging 1.00
R1553:Pde5a UTSW 3 122,572,585 (GRCm39) missense probably benign 0.14
R1728:Pde5a UTSW 3 122,541,889 (GRCm39) missense probably damaging 1.00
R1744:Pde5a UTSW 3 122,541,546 (GRCm39) missense probably damaging 0.97
R1774:Pde5a UTSW 3 122,523,013 (GRCm39) missense probably benign 0.01
R1784:Pde5a UTSW 3 122,541,889 (GRCm39) missense probably damaging 1.00
R2437:Pde5a UTSW 3 122,636,702 (GRCm39) missense probably damaging 1.00
R2844:Pde5a UTSW 3 122,645,357 (GRCm39) missense probably damaging 1.00
R2897:Pde5a UTSW 3 122,572,651 (GRCm39) missense probably benign 0.03
R2936:Pde5a UTSW 3 122,587,968 (GRCm39) missense probably damaging 0.97
R3160:Pde5a UTSW 3 122,575,277 (GRCm39) nonsense probably null
R3162:Pde5a UTSW 3 122,575,277 (GRCm39) nonsense probably null
R3704:Pde5a UTSW 3 122,572,668 (GRCm39) missense probably benign 0.00
R3847:Pde5a UTSW 3 122,596,809 (GRCm39) missense probably damaging 0.98
R3932:Pde5a UTSW 3 122,554,545 (GRCm39) missense probably damaging 0.98
R4387:Pde5a UTSW 3 122,523,001 (GRCm39) missense probably benign 0.00
R4613:Pde5a UTSW 3 122,616,742 (GRCm39) missense probably damaging 1.00
R4676:Pde5a UTSW 3 122,541,542 (GRCm39) missense possibly damaging 0.67
R5034:Pde5a UTSW 3 122,646,236 (GRCm39) missense probably damaging 1.00
R5034:Pde5a UTSW 3 122,646,235 (GRCm39) missense probably damaging 1.00
R5358:Pde5a UTSW 3 122,541,825 (GRCm39) missense probably damaging 1.00
R5394:Pde5a UTSW 3 122,611,658 (GRCm39) missense probably damaging 1.00
R5502:Pde5a UTSW 3 122,596,681 (GRCm39) missense probably damaging 1.00
R5821:Pde5a UTSW 3 122,611,604 (GRCm39) missense probably benign 0.40
R5932:Pde5a UTSW 3 122,634,693 (GRCm39) missense probably benign 0.01
R6190:Pde5a UTSW 3 122,522,956 (GRCm39) missense probably benign 0.28
R6815:Pde5a UTSW 3 122,618,573 (GRCm39) missense probably benign 0.01
R6940:Pde5a UTSW 3 122,572,681 (GRCm39) missense possibly damaging 0.53
R7274:Pde5a UTSW 3 122,648,895 (GRCm39) nonsense probably null
R7337:Pde5a UTSW 3 122,542,107 (GRCm39) missense probably damaging 1.00
R7384:Pde5a UTSW 3 122,618,649 (GRCm39) missense probably damaging 1.00
R7480:Pde5a UTSW 3 122,596,797 (GRCm39) missense possibly damaging 0.50
R7508:Pde5a UTSW 3 122,611,679 (GRCm39) missense probably damaging 1.00
R7522:Pde5a UTSW 3 122,634,648 (GRCm39) nonsense probably null
R7623:Pde5a UTSW 3 122,568,250 (GRCm39) missense probably benign
R8153:Pde5a UTSW 3 122,646,227 (GRCm39) missense probably damaging 1.00
R8153:Pde5a UTSW 3 122,646,225 (GRCm39) missense probably benign 0.30
R8351:Pde5a UTSW 3 122,542,128 (GRCm39) critical splice donor site probably null
R8927:Pde5a UTSW 3 122,633,249 (GRCm39) missense probably damaging 1.00
R8928:Pde5a UTSW 3 122,633,249 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTCACTGTAAATGGCCAC -3'
(R):5'- TTTTCCTTACACGTAGCCAGGC -3'

Posted On 2017-07-14