Incidental Mutation 'IGL02318:Pde2a'
ID 288122
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde2a
Ensembl Gene ENSMUSG00000110195
Gene Name phosphodiesterase 2A, cGMP-stimulated
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.807) question?
Stock # IGL02318
Quality Score
Status
Chromosome 7
Chromosomal Location 101070905-101162026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101152550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 371 (Y371F)
Ref Sequence ENSEMBL: ENSMUSP00000131553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084894] [ENSMUST00000163751] [ENSMUST00000166652] [ENSMUST00000209537] [ENSMUST00000210364] [ENSMUST00000211368]
AlphaFold Q922S4
Predicted Effect probably benign
Transcript: ENSMUST00000084894
AA Change: Y393F

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: Y393F

DomainStartEndE-ValueType
Blast:GAF 57 181 4e-76 BLAST
low complexity region 182 196 N/A INTRINSIC
GAF 235 382 2.2e-21 SMART
GAF 404 553 6.11e-38 SMART
HDc 648 817 9.04e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000163751
AA Change: Y371F

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: Y371F

DomainStartEndE-ValueType
Blast:GAF 57 181 4e-76 BLAST
low complexity region 182 196 N/A INTRINSIC
GAF 235 386 2.22e-17 SMART
GAF 408 557 6.11e-38 SMART
HDc 652 821 9.04e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166652
AA Change: Y367F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: Y367F

DomainStartEndE-ValueType
Blast:GAF 57 181 4e-76 BLAST
low complexity region 182 196 N/A INTRINSIC
GAF 235 382 2.2e-21 SMART
GAF 404 553 6.11e-38 SMART
HDc 648 817 9.04e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209315
Predicted Effect probably benign
Transcript: ENSMUST00000209537
AA Change: Y377F

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000210364
Predicted Effect probably benign
Transcript: ENSMUST00000211368
AA Change: Y367F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211051
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E17 and E18; another knock out mutation results in only some animals surviving to weaning age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,561,838 (GRCm39) F116S probably damaging Het
Abhd18 G A 3: 40,884,662 (GRCm39) probably null Het
Akr1c6 G T 13: 4,488,496 (GRCm39) C34F probably benign Het
Ankef1 T A 2: 136,386,695 (GRCm39) I180N possibly damaging Het
Ap1b1 G A 11: 4,969,294 (GRCm39) V217I probably benign Het
Arhgap27 T C 11: 103,223,989 (GRCm39) Q608R probably benign Het
Arhgap32 A G 9: 32,170,627 (GRCm39) T1136A probably benign Het
Ascc3 T A 10: 50,604,250 (GRCm39) Y1323* probably null Het
Bsx A C 9: 40,785,517 (GRCm39) Q15P probably benign Het
Cdh20 A G 1: 104,881,764 (GRCm39) I410V probably null Het
Cfhr4 T A 1: 139,708,835 (GRCm39) E24D probably benign Het
Col20a1 A G 2: 180,648,952 (GRCm39) D945G probably damaging Het
Cox20 A G 1: 178,150,043 (GRCm39) probably null Het
Cplane1 A G 15: 8,204,509 (GRCm39) K96E probably damaging Het
Cpne9 A G 6: 113,270,699 (GRCm39) D305G possibly damaging Het
Cyp2d12 A G 15: 82,439,444 (GRCm39) T33A probably benign Het
Dvl3 A G 16: 20,342,493 (GRCm39) R149G possibly damaging Het
Dysf A G 6: 84,163,446 (GRCm39) I1624V possibly damaging Het
Echs1 A T 7: 139,691,623 (GRCm39) L167Q probably damaging Het
Ect2 A T 3: 27,192,868 (GRCm39) N358K probably benign Het
Eml4 A G 17: 83,748,795 (GRCm39) I230V probably benign Het
Fut10 A G 8: 31,726,286 (GRCm39) Y347C probably damaging Het
Gfm2 C A 13: 97,299,483 (GRCm39) N401K probably damaging Het
Gm4795 C T 10: 44,882,735 (GRCm39) noncoding transcript Het
Gm5592 C A 7: 40,936,212 (GRCm39) T238N probably benign Het
Gm9892 T C 8: 52,649,260 (GRCm39) noncoding transcript Het
Greb1l G T 18: 10,469,388 (GRCm39) M134I possibly damaging Het
Grk3 A G 5: 113,085,669 (GRCm39) Y314H probably damaging Het
Hrh2 T C 13: 54,368,669 (GRCm39) I215T probably damaging Het
Ilkap A G 1: 91,312,960 (GRCm39) probably null Het
Inpp4a T C 1: 37,407,384 (GRCm39) Y233H probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Lmo7 C T 14: 102,137,502 (GRCm39) probably benign Het
Luc7l3 C T 11: 94,183,819 (GRCm39) R440Q probably benign Het
Mis18bp1 A C 12: 65,205,515 (GRCm39) I219S probably benign Het
Myo9b G A 8: 71,806,768 (GRCm39) E1581K probably damaging Het
Nfs1 T A 2: 155,966,191 (GRCm39) Q458L probably damaging Het
Numb A T 12: 83,878,692 (GRCm39) probably null Het
Nxf1 G A 19: 8,741,514 (GRCm39) probably null Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or52z1 A G 7: 103,437,475 (GRCm39) V3A probably benign Het
Pacc1 A G 1: 191,080,605 (GRCm39) E275G possibly damaging Het
Phlpp2 G T 8: 110,666,505 (GRCm39) L1011F probably benign Het
Potefam3e T C 8: 19,797,815 (GRCm39) probably null Het
Prss27 G T 17: 24,264,571 (GRCm39) V245L probably benign Het
Rbm7 T C 9: 48,405,411 (GRCm39) N56S probably damaging Het
Rftn1 T C 17: 50,343,998 (GRCm39) I97V possibly damaging Het
Ric3 T C 7: 108,647,287 (GRCm39) T178A probably damaging Het
Rock1 A G 18: 10,104,323 (GRCm39) probably benign Het
Sall2 T C 14: 52,553,022 (GRCm39) T56A probably damaging Het
Sgk1 T C 10: 21,871,440 (GRCm39) S60P probably damaging Het
Smarcad1 G A 6: 65,050,223 (GRCm39) A281T probably damaging Het
Spta1 A G 1: 174,002,029 (GRCm39) H53R possibly damaging Het
Thbs4 T C 13: 92,900,092 (GRCm39) D468G probably damaging Het
Tmem108 A T 9: 103,376,981 (GRCm39) V156E probably benign Het
Tnfaip3 T G 10: 18,880,215 (GRCm39) R617S probably benign Het
Traf3 A G 12: 111,204,031 (GRCm39) M7V probably benign Het
Ubr3 T A 2: 69,809,741 (GRCm39) I1237N probably damaging Het
Vmn2r23 T C 6: 123,718,795 (GRCm39) V716A probably benign Het
Other mutations in Pde2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Pde2a APN 7 101,133,796 (GRCm39) nonsense probably null
IGL00731:Pde2a APN 7 101,157,306 (GRCm39) missense probably benign 0.04
IGL00807:Pde2a APN 7 101,153,619 (GRCm39) missense probably damaging 1.00
IGL01339:Pde2a APN 7 101,156,366 (GRCm39) missense probably benign
IGL01503:Pde2a APN 7 101,151,143 (GRCm39) splice site probably benign
IGL01646:Pde2a APN 7 101,156,918 (GRCm39) missense possibly damaging 0.95
IGL01960:Pde2a APN 7 101,153,947 (GRCm39) missense probably benign 0.40
IGL02281:Pde2a APN 7 101,130,599 (GRCm39) missense probably benign 0.34
IGL02479:Pde2a APN 7 101,150,290 (GRCm39) missense probably damaging 1.00
IGL02632:Pde2a APN 7 101,153,863 (GRCm39) missense probably damaging 1.00
IGL02725:Pde2a APN 7 101,156,425 (GRCm39) missense probably null 0.00
IGL02888:Pde2a APN 7 101,154,276 (GRCm39) missense probably damaging 0.98
IGL03027:Pde2a APN 7 101,130,627 (GRCm39) missense probably benign 0.01
IGL03114:Pde2a APN 7 101,157,890 (GRCm39) splice site probably benign
PIT1430001:Pde2a UTSW 7 101,100,684 (GRCm39) splice site probably benign
PIT4131001:Pde2a UTSW 7 101,160,361 (GRCm39) missense probably damaging 0.98
PIT4431001:Pde2a UTSW 7 101,151,104 (GRCm39) missense probably damaging 1.00
R1170:Pde2a UTSW 7 101,133,750 (GRCm39) missense probably benign 0.00
R1298:Pde2a UTSW 7 101,156,409 (GRCm39) missense probably benign 0.12
R1300:Pde2a UTSW 7 101,159,611 (GRCm39) missense possibly damaging 0.48
R1451:Pde2a UTSW 7 101,071,198 (GRCm39) nonsense probably null
R1731:Pde2a UTSW 7 101,150,867 (GRCm39) missense probably damaging 1.00
R1863:Pde2a UTSW 7 101,160,361 (GRCm39) missense probably damaging 1.00
R2258:Pde2a UTSW 7 101,133,774 (GRCm39) missense probably damaging 1.00
R2259:Pde2a UTSW 7 101,133,774 (GRCm39) missense probably damaging 1.00
R2260:Pde2a UTSW 7 101,133,774 (GRCm39) missense probably damaging 1.00
R4179:Pde2a UTSW 7 101,130,590 (GRCm39) makesense probably null
R4688:Pde2a UTSW 7 101,152,041 (GRCm39) missense probably benign
R4717:Pde2a UTSW 7 101,143,879 (GRCm39) missense probably benign 0.00
R4723:Pde2a UTSW 7 101,143,825 (GRCm39) missense possibly damaging 0.80
R4758:Pde2a UTSW 7 101,160,706 (GRCm39) missense probably damaging 1.00
R4965:Pde2a UTSW 7 101,152,140 (GRCm39) missense probably benign 0.01
R5034:Pde2a UTSW 7 101,151,231 (GRCm39) missense probably benign 0.01
R5219:Pde2a UTSW 7 101,153,811 (GRCm39) missense probably damaging 1.00
R5533:Pde2a UTSW 7 101,155,187 (GRCm39) missense probably damaging 0.97
R6083:Pde2a UTSW 7 101,152,086 (GRCm39) missense possibly damaging 0.93
R6114:Pde2a UTSW 7 101,160,319 (GRCm39) critical splice acceptor site probably null
R6365:Pde2a UTSW 7 101,159,570 (GRCm39) missense probably damaging 1.00
R6372:Pde2a UTSW 7 101,130,599 (GRCm39) missense probably benign 0.34
R6395:Pde2a UTSW 7 101,150,242 (GRCm39) missense probably benign 0.00
R6482:Pde2a UTSW 7 101,150,244 (GRCm39) missense probably benign 0.11
R6492:Pde2a UTSW 7 101,149,649 (GRCm39) missense possibly damaging 0.71
R6971:Pde2a UTSW 7 101,159,520 (GRCm39) nonsense probably null
R7027:Pde2a UTSW 7 101,160,804 (GRCm39) missense probably damaging 1.00
R7082:Pde2a UTSW 7 101,157,303 (GRCm39) missense probably damaging 1.00
R7107:Pde2a UTSW 7 101,071,175 (GRCm39) missense probably benign 0.01
R7142:Pde2a UTSW 7 101,153,857 (GRCm39) missense probably damaging 1.00
R7203:Pde2a UTSW 7 101,159,151 (GRCm39) missense possibly damaging 0.70
R7231:Pde2a UTSW 7 101,155,160 (GRCm39) missense probably damaging 0.99
R7248:Pde2a UTSW 7 101,152,597 (GRCm39) missense possibly damaging 0.88
R7570:Pde2a UTSW 7 101,152,041 (GRCm39) missense probably benign 0.03
R7632:Pde2a UTSW 7 101,133,801 (GRCm39) missense possibly damaging 0.64
R7658:Pde2a UTSW 7 101,160,788 (GRCm39) missense possibly damaging 0.79
R8061:Pde2a UTSW 7 101,153,179 (GRCm39) missense probably benign 0.29
R8098:Pde2a UTSW 7 101,071,178 (GRCm39) missense probably benign
R8165:Pde2a UTSW 7 101,149,655 (GRCm39) critical splice donor site probably null
R8297:Pde2a UTSW 7 101,153,880 (GRCm39) missense possibly damaging 0.86
R8513:Pde2a UTSW 7 101,158,972 (GRCm39) missense probably damaging 1.00
R8708:Pde2a UTSW 7 101,159,588 (GRCm39) missense probably damaging 1.00
R8794:Pde2a UTSW 7 101,155,136 (GRCm39) missense possibly damaging 0.89
R9045:Pde2a UTSW 7 101,152,498 (GRCm39) missense unknown
R9054:Pde2a UTSW 7 101,156,927 (GRCm39) missense probably damaging 1.00
R9344:Pde2a UTSW 7 101,144,891 (GRCm39) missense possibly damaging 0.88
R9367:Pde2a UTSW 7 101,160,361 (GRCm39) missense probably damaging 1.00
R9590:Pde2a UTSW 7 101,160,757 (GRCm39) missense probably benign 0.34
Posted On 2015-04-16