Incidental Mutation 'R3704:Pde5a'
ID 258641
Institutional Source Beutler Lab
Gene Symbol Pde5a
Ensembl Gene ENSMUSG00000053965
Gene Name phosphodiesterase 5A, cGMP-specific
Synonyms Pde5, PDE5A1
MMRRC Submission 040697-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R3704 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 122522822-122653023 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122572668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 318 (S318P)
Ref Sequence ENSEMBL: ENSMUSP00000143042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066728] [ENSMUST00000200389]
AlphaFold Q8CG03
Predicted Effect probably benign
Transcript: ENSMUST00000066728
AA Change: S350P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: S350P

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 benign
Transcript: ENSMUST00000200389
AA Change: S318P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: S318P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200530
Meta Mutation Damage Score 0.0830 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 91.8%
Validation Efficiency 100% (49/49)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Akap13 T C 7: 75,316,298 (GRCm39) C585R probably damaging Het
Akr1b10 G T 6: 34,371,689 (GRCm39) D285Y probably damaging Het
Akr1b10 A G 6: 34,371,690 (GRCm39) D257G probably benign Het
Ankrd17 A T 5: 90,391,828 (GRCm39) N1838K possibly damaging Het
Asap3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGAGGAGGA 4: 135,968,552 (GRCm39) probably benign Het
Bcap29 T C 12: 31,667,151 (GRCm39) H170R probably benign Het
Brwd3 A G X: 107,804,021 (GRCm39) probably benign Het
Capn1 T C 19: 6,057,401 (GRCm39) E349G probably damaging Het
Cd27 C T 6: 125,210,361 (GRCm39) C222Y probably damaging Het
Cdh12 C A 15: 21,583,912 (GRCm39) T584K probably damaging Het
Col13a1 A G 10: 61,703,608 (GRCm39) probably null Het
Col22a1 T C 15: 71,842,156 (GRCm39) T443A probably damaging Het
Crisp3 A G 17: 40,546,848 (GRCm39) probably benign Het
Cubn T A 2: 13,355,754 (GRCm39) H1826L probably damaging Het
Eci2 A G 13: 35,177,216 (GRCm39) probably benign Het
Fat2 A C 11: 55,200,476 (GRCm39) F866C probably damaging Het
Fbxl7 C A 15: 26,543,841 (GRCm39) G269C probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Ifi35 G A 11: 101,339,430 (GRCm39) M1I probably null Het
Jarid2 A G 13: 45,055,831 (GRCm39) T308A probably benign Het
Kcnq3 A G 15: 65,893,588 (GRCm39) probably null Het
Kcnt2 C T 1: 140,461,706 (GRCm39) T819M probably damaging Het
Kifc3 G A 8: 95,830,656 (GRCm39) probably benign Het
Mill1 A G 7: 17,996,978 (GRCm39) T190A possibly damaging Het
Mosmo A G 7: 120,329,828 (GRCm39) I150V probably damaging Het
Nemf C A 12: 69,377,904 (GRCm39) D566Y probably damaging Het
Nisch A G 14: 30,898,702 (GRCm39) probably benign Het
Or8b101 T A 9: 38,020,299 (GRCm39) F106I possibly damaging Het
Paip2 A G 18: 35,743,974 (GRCm39) T9A probably benign Het
Plcd1 T C 9: 118,905,277 (GRCm39) I145V possibly damaging Het
Prl2c2 C T 13: 13,176,810 (GRCm39) R37H probably damaging Het
Raet1e A G 10: 22,056,744 (GRCm39) T107A probably benign Het
Reps1 T G 10: 17,983,428 (GRCm39) F424V probably damaging Het
Skint6 A T 4: 112,993,669 (GRCm39) V401D possibly damaging Het
Srgn T C 10: 62,333,609 (GRCm39) D56G probably damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Ttn A T 2: 76,662,124 (GRCm39) probably benign Het
Ugt2b37 A T 5: 87,390,846 (GRCm39) F340L possibly damaging Het
Xirp1 T A 9: 120,016,907 (GRCm38) Q970L probably benign Het
Zfr2 T G 10: 81,081,913 (GRCm39) V493G probably benign Het
Zmat4 A G 8: 24,287,430 (GRCm39) R59G probably benign 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
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
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'- GCTGTAACCGTTGCGTAAAC -3'
(R):5'- AAGGCTCTTGCTACCCTCAC -3'

Sequencing Primer
(F):5'- GTTGCGTAAACGTGCTCAC -3'
(R):5'- CCACTTCAAAAACATTTCACTCTTG -3'
Posted On 2015-01-23