Incidental Mutation 'R5034:Pde5a'
ID 389429
Institutional Source Beutler Lab
Gene Symbol Pde5a
Ensembl Gene ENSMUSG00000053965
Gene Name phosphodiesterase 5A, cGMP-specific
Synonyms Pde5, PDE5A1
MMRRC Submission 042625-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R5034 (G1)
Quality Score 209
Status Validated
Chromosome 3
Chromosomal Location 122522822-122653023 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 122646236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 809 (G809V)
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 damaging
Transcript: ENSMUST00000066728
AA Change: G809V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: G809V

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 damaging
Transcript: ENSMUST00000200389
AA Change: G777V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: G777V

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
Meta Mutation Damage Score 0.8475 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (67/69)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,136,090 (GRCm39) S482T probably benign Het
Adam6b G T 12: 113,454,547 (GRCm39) G455C probably damaging Het
Ahsg C A 16: 22,717,650 (GRCm39) P237Q probably damaging Het
Asxl2 A G 12: 3,552,193 (GRCm39) S1312G probably damaging Het
Brinp3 C T 1: 146,603,458 (GRCm39) probably benign Het
Col12a1 T C 9: 79,564,649 (GRCm39) H1677R probably damaging Het
Cops7a A G 6: 124,939,583 (GRCm39) probably null Het
Csmd2 G A 4: 127,952,901 (GRCm39) A117T probably damaging Het
Csmd3 T C 15: 47,492,683 (GRCm39) R3153G possibly damaging Het
Dctn4 A G 18: 60,685,956 (GRCm39) N342D probably benign Het
Dennd5a A T 7: 109,499,004 (GRCm39) I953N probably damaging Het
Dmwd T C 7: 18,814,219 (GRCm39) S290P probably damaging Het
Dsc1 T A 18: 20,228,084 (GRCm39) Y424F possibly damaging Het
Far2 C A 6: 148,074,939 (GRCm39) L391M probably benign Het
Foxd3 G A 4: 99,545,327 (GRCm39) G156S probably damaging Het
Galk2 A T 2: 125,771,495 (GRCm39) E173D probably benign Het
Hcar1 T C 5: 124,017,732 (GRCm39) probably benign Het
Hsd17b11 C T 5: 104,166,087 (GRCm39) V91M possibly damaging Het
Ighv1-77 C T 12: 115,825,494 (GRCm39) C115Y probably damaging Het
Ighv9-2 A G 12: 114,073,025 (GRCm39) F9S probably damaging Het
Kdm6b A G 11: 69,292,736 (GRCm39) probably benign Het
Kif21a T A 15: 90,852,561 (GRCm39) R890W probably null Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Magel2 A T 7: 62,029,616 (GRCm39) H840L unknown Het
Mrgpra4 A G 7: 47,631,317 (GRCm39) F95L probably benign Het
Myo7b A G 18: 32,104,440 (GRCm39) L1436P probably damaging Het
Nf1 C T 11: 79,334,976 (GRCm39) P943S probably damaging Het
Obscn T A 11: 58,952,502 (GRCm39) R4153* probably null Het
Oosp2 T C 19: 11,628,899 (GRCm39) I67M probably damaging Het
Or5m13b C A 2: 85,753,891 (GRCm39) S93Y probably damaging Het
Pcdh9 T A 14: 93,564,285 (GRCm39) D1023V probably benign Het
Pcdhb14 T C 18: 37,581,859 (GRCm39) S322P probably damaging Het
Pde2a A G 7: 101,151,231 (GRCm39) D285G probably benign Het
Pphln1 T C 15: 93,350,010 (GRCm39) V120A probably benign Het
Rictor T C 15: 6,797,576 (GRCm39) S311P probably damaging Het
Rilpl1 T C 5: 124,631,887 (GRCm39) D153G probably damaging Het
Rmdn3 G T 2: 118,978,058 (GRCm39) A181E probably damaging Het
Rnf213 G A 11: 119,301,633 (GRCm39) V369M probably damaging Het
Scyl1 T A 19: 5,810,022 (GRCm39) R601S probably benign Het
Sdcbp G A 4: 6,393,118 (GRCm39) probably null Het
Septin8 A G 11: 53,425,265 (GRCm39) T53A probably damaging Het
Sfpq A G 4: 126,917,462 (GRCm39) probably benign Het
Slc35b3 A G 13: 39,127,134 (GRCm39) Y163H probably damaging Het
Sra1 A G 18: 36,812,048 (GRCm39) probably null Het
Sspo A T 6: 48,457,757 (GRCm39) N3231Y possibly damaging Het
Tcf3 A G 10: 80,253,377 (GRCm39) V218A possibly damaging Het
Tgm3 T C 2: 129,879,404 (GRCm39) V332A possibly damaging Het
Tmprss11f C T 5: 86,739,243 (GRCm39) probably benign Het
Trbv4 A G 6: 41,036,624 (GRCm39) T50A probably benign Het
Trdv2-2 C A 14: 54,198,882 (GRCm39) Y57* probably null Het
Trim50 T C 5: 135,396,147 (GRCm39) V365A possibly damaging Het
Ubash3b T C 9: 40,941,036 (GRCm39) Q245R probably benign Het
Ulk3 T A 9: 57,501,047 (GRCm39) V338E possibly damaging Het
Usf3 A C 16: 44,036,762 (GRCm39) K414T probably damaging Het
Usp48 C T 4: 137,334,068 (GRCm39) R161* probably null Het
Vps18 A T 2: 119,123,787 (GRCm39) D238V probably benign Het
Vps35l T C 7: 118,390,611 (GRCm39) V368A probably damaging Het
Zfp354c T C 11: 50,705,866 (GRCm39) E403G probably benign Het
Zscan18 A G 7: 12,508,072 (GRCm39) V476A probably damaging 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 3 122,646,235 (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
R6063:Pde5a UTSW 3 122,618,574 (GRCm39) missense probably benign 0.23
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'- TGTATGCCTCTCAAATGGGAG -3'
(R):5'- CAGACATCAGATTCGTCAGCG -3'

Sequencing Primer
(F):5'- TCTCAAATGGGAGAGAAGGATTCTTC -3'
(R):5'- TCGTCAGCGAAAAAGAAACAATAAC -3'
Posted On 2016-06-06