Incidental Mutation 'R3162:Pde5a'
ID 271667
Institutional Source Beutler Lab
Gene Symbol Pde5a
Ensembl Gene ENSMUSG00000053965
Gene Name phosphodiesterase 5A, cGMP-specific
Synonyms Pde5, PDE5A1
MMRRC Submission 040613-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R3162 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 122522822-122653023 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 122575277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 356 (L356*)
Ref Sequence ENSEMBL: ENSMUSP00000143042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066728] [ENSMUST00000200389]
AlphaFold Q8CG03
Predicted Effect probably null
Transcript: ENSMUST00000066728
AA Change: L388*
SMART Domains Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: L388*

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 probably null
Transcript: ENSMUST00000200389
AA Change: L356*
SMART Domains Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: L356*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,053,833 (GRCm39) probably benign Het
4933412E24Rik T A 15: 59,888,134 (GRCm39) E102V probably damaging Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Adgre4 T C 17: 56,109,218 (GRCm39) probably benign Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
AW551984 C A 9: 39,504,325 (GRCm39) R547L probably damaging Het
B3galt6 A G 4: 156,076,464 (GRCm39) Y204H probably benign Het
Btnl2 T C 17: 34,577,039 (GRCm39) W65R probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Ccdc181 T A 1: 164,107,865 (GRCm39) S183T probably damaging Het
Cdc14b A G 13: 64,394,422 (GRCm39) probably benign Het
Cep350 T C 1: 155,738,910 (GRCm39) H2311R probably benign Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crbn T C 6: 106,767,827 (GRCm39) Q221R probably benign Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Ddb1 T C 19: 10,603,335 (GRCm39) L881P probably damaging Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Dennd1c C T 17: 57,373,562 (GRCm39) G637D possibly damaging Het
Dhrs3 A G 4: 144,646,016 (GRCm39) D108G possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dnajc13 G T 9: 104,097,097 (GRCm39) N510K possibly damaging Het
Dusp6 T C 10: 99,099,944 (GRCm39) Y131H probably damaging Het
Eif2b2 A T 12: 85,266,435 (GRCm39) M34L probably benign Het
Epsti1 A T 14: 78,211,953 (GRCm39) probably benign Het
Errfi1 G A 4: 150,951,816 (GRCm39) E415K probably damaging Het
Ext1 T C 15: 53,208,000 (GRCm39) N254D possibly damaging Het
Gm7337 A C 5: 87,999,416 (GRCm39) noncoding transcript Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Hyal3 T A 9: 107,464,005 (GRCm39) C407S probably damaging Het
Insr T G 8: 3,211,416 (GRCm39) N1141T possibly damaging Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Iqgap1 G A 7: 80,402,086 (GRCm39) A393V probably benign Het
Irak2 G T 6: 113,649,721 (GRCm39) A119S probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Itsn1 C A 16: 91,649,932 (GRCm39) S202* probably null Het
Ivd T C 2: 118,692,650 (GRCm39) probably null Het
Leprot C T 4: 101,515,090 (GRCm39) T89I probably damaging Het
Lratd2 A T 15: 60,695,296 (GRCm39) V150E probably damaging Het
Mill2 A C 7: 18,590,099 (GRCm39) E127A probably benign Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Myo18b A C 5: 112,840,594 (GRCm39) S2400A probably damaging Het
Naa25 A G 5: 121,573,135 (GRCm39) probably null Het
Nop2 A G 6: 125,111,555 (GRCm39) N96S probably benign Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Nusap1 A T 2: 119,460,885 (GRCm39) Q126L possibly damaging Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or2z2 T C 11: 58,346,053 (GRCm39) T241A probably damaging Het
Or4c52 T G 2: 89,845,365 (GRCm39) Y30* probably null Het
Or5al1 T C 2: 85,990,439 (GRCm39) I92V probably benign Het
Or6x1 G T 9: 40,098,901 (GRCm39) Q163H probably benign Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Pdik1l A G 4: 134,011,561 (GRCm39) L94S probably damaging Het
Pkdrej T A 15: 85,700,818 (GRCm39) D1706V probably damaging Het
Pkhd1l1 A G 15: 44,368,924 (GRCm39) I856M probably damaging Het
Prkcz A T 4: 155,374,981 (GRCm39) D114E probably benign Het
Prss59 A G 6: 40,903,003 (GRCm39) M123T probably benign Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Ptprk T C 10: 28,468,822 (GRCm39) V1402A probably benign Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Ralgapa1 A T 12: 55,756,371 (GRCm39) N1075K probably damaging Het
Rlf A G 4: 121,006,044 (GRCm39) S979P probably damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Serinc2 A G 4: 130,154,528 (GRCm39) S175P probably benign Het
Skic2 C T 17: 35,066,789 (GRCm39) W88* probably null Het
Socs5 A T 17: 87,442,146 (GRCm39) Q362L probably damaging Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Srgap3 A G 6: 112,706,619 (GRCm39) V826A probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Taok2 A G 7: 126,474,347 (GRCm39) I294T possibly damaging Het
Tert A G 13: 73,775,528 (GRCm39) E93G possibly damaging Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Trak1 C T 9: 121,280,800 (GRCm39) probably benign Het
Ttc22 A T 4: 106,480,276 (GRCm39) I177F probably damaging Het
Tuba8 A G 6: 121,199,697 (GRCm39) D127G possibly damaging Het
Tulp4 A G 17: 6,248,983 (GRCm39) M1V probably null Het
Urb1 A G 16: 90,594,791 (GRCm39) L247P probably damaging Het
Usp32 A G 11: 84,916,362 (GRCm39) W861R probably damaging Het
Vmn1r48 G A 6: 90,013,360 (GRCm39) T155I probably benign Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vmn2r86 T C 10: 130,291,673 (GRCm39) R31G probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Wnt5a T C 14: 28,244,445 (GRCm39) Y231H probably benign Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Zw10 T C 9: 48,988,860 (GRCm39) Y709H 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
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
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'- ATGTTTGAGCACTGGCACCC -3'
(R):5'- CTGTGCTAACCAGAGTTCTGC -3'

Sequencing Primer
(F):5'- GCACCCTAGTGTTGCACAATGTG -3'
(R):5'- GTGCTAACCAGAGTTCTGCTATAAG -3'
Posted On 2015-03-25