Incidental Mutation 'IGL01395:Pde5a'
ID 79389
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01395
Quality Score
Status
Chromosome 3
Chromosomal Location 122522822-122653023 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122611604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 514 (I514T)
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: I546T

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: I546T

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: I514T

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: I514T

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 0.1999 question?
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G 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
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
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
Posted On 2013-11-05