Incidental Mutation 'IGL02479:Pde2a'
ID295130
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde2a
Ensembl Gene ENSMUSG00000110195
Gene Namephosphodiesterase 2A, cGMP-stimulated
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.777) question?
Stock #IGL02479
Quality Score
Status
Chromosome7
Chromosomal Location101421691-101512827 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101501083 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 243 (Y243C)
Ref Sequence ENSEMBL: ENSMUSP00000081956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084894] [ENSMUST00000163751] [ENSMUST00000166652] [ENSMUST00000209537] [ENSMUST00000210364] [ENSMUST00000211368]
Predicted Effect probably damaging
Transcript: ENSMUST00000084894
AA Change: Y243C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: Y243C

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 probably damaging
Transcript: ENSMUST00000163751
AA Change: Y217C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: Y217C

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 damaging
Transcript: ENSMUST00000166652
AA Change: Y217C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: Y217C

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 damaging
Transcript: ENSMUST00000209537
AA Change: Y227C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000210364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211051
Predicted Effect probably damaging
Transcript: ENSMUST00000211368
AA Change: Y217C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,501,398 Y528C probably damaging Het
Adam24 T A 8: 40,679,532 I13N probably benign Het
Arsj T C 3: 126,438,939 S445P possibly damaging Het
Btf3l4 G A 4: 108,826,176 T31I possibly damaging Het
Cask A T X: 13,557,058 D502E probably damaging Het
Cenpl T A 1: 161,083,067 S195T probably benign Het
Clhc1 T A 11: 29,578,107 I545N probably damaging Het
Clrn2 T C 5: 45,463,912 I216T probably benign Het
Csf2rb C T 15: 78,341,724 Q332* probably null Het
Cyp3a44 T C 5: 145,790,667 D284G probably benign Het
Dgka T C 10: 128,730,246 E345G probably benign Het
Dync1i2 G A 2: 71,235,979 V128I probably damaging Het
Eno3 T A 11: 70,660,888 probably benign Het
Epc2 T A 2: 49,532,135 I347K probably benign Het
F8 A T X: 75,288,240 N681K probably damaging Het
Fam207a T C 10: 77,514,327 S76G probably damaging Het
Fancm T A 12: 65,106,485 D1238E probably damaging Het
Fcna T A 2: 25,625,260 Q237L probably benign Het
Fpr2 A T 17: 17,892,812 R23S probably benign Het
Frmd3 A G 4: 74,187,515 D466G probably benign Het
Gen1 C A 12: 11,241,935 V618L probably benign Het
Gja4 T C 4: 127,312,424 E182G probably benign Het
Gsdmc T A 15: 63,777,975 I356F possibly damaging Het
Kctd19 T C 8: 105,384,768 D102G probably damaging Het
Lrit2 T C 14: 37,072,278 L433P probably damaging Het
Lrp2 G A 2: 69,464,801 probably benign Het
Luc7l3 G A 11: 94,296,909 probably benign Het
Map3k5 T A 10: 20,056,484 L458Q probably damaging Het
Mast4 A G 13: 102,742,037 S1038P probably damaging Het
Med12 A T X: 101,296,992 probably benign Het
Mtor T A 4: 148,470,584 L888M probably damaging Het
Nova1 A T 12: 46,816,918 I83N unknown Het
Obscn A G 11: 59,056,227 probably benign Het
Olfr1309 A C 2: 111,983,385 S230A probably benign Het
Olfr1320 T C X: 49,683,865 V121A probably benign Het
Olfr1426 T A 19: 12,087,905 M296L probably benign Het
Olfr420 C A 1: 174,158,954 Y60* probably null Het
Pdzd8 T A 19: 59,299,783 K1062* probably null Het
Phc1 A T 6: 122,323,717 probably benign Het
Pik3c2g T A 6: 139,918,004 S764T probably benign Het
Pmp2 T G 3: 10,182,202 R89S probably benign Het
Prdm2 A G 4: 143,134,929 L597P probably damaging Het
Rfx6 T A 10: 51,678,328 D88E probably benign Het
Rgs9 T C 11: 109,225,652 S442G possibly damaging Het
Ror2 C T 13: 53,131,932 R82Q possibly damaging Het
Sez6 C A 11: 77,978,026 A986E possibly damaging Het
Slc5a5 T A 8: 70,888,911 M325L possibly damaging Het
Sppl2c G A 11: 104,186,937 V188I probably benign Het
Srrm3 G T 5: 135,835,249 C67F probably damaging Het
Stk31 A G 6: 49,421,688 E341G probably damaging Het
Svil A T 18: 5,099,476 M1267L probably damaging Het
Tas2r135 C T 6: 42,405,751 R75* probably null Het
Trav8d-1 T C 14: 52,778,800 S48P probably benign Het
Vrk1 A T 12: 106,051,002 Q95L probably benign Het
Wdr25 C A 12: 108,898,601 T224K probably benign Het
Wdr37 A T 13: 8,842,784 H224Q probably damaging Het
Zhx1 C T 15: 58,054,371 E160K probably damaging Het
Other mutations in Pde2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Pde2a APN 7 101484589 nonsense probably null
IGL00731:Pde2a APN 7 101508099 missense probably benign 0.04
IGL00807:Pde2a APN 7 101504412 missense probably damaging 1.00
IGL01339:Pde2a APN 7 101507159 missense probably benign
IGL01503:Pde2a APN 7 101501936 splice site probably benign
IGL01646:Pde2a APN 7 101507711 missense possibly damaging 0.95
IGL01960:Pde2a APN 7 101504740 missense probably benign 0.40
IGL02281:Pde2a APN 7 101481392 missense probably benign 0.34
IGL02318:Pde2a APN 7 101503343 missense possibly damaging 0.79
IGL02632:Pde2a APN 7 101504656 missense probably damaging 1.00
IGL02725:Pde2a APN 7 101507218 missense probably null 0.00
IGL02888:Pde2a APN 7 101505069 missense probably damaging 0.98
IGL03027:Pde2a APN 7 101481420 missense probably benign 0.01
IGL03114:Pde2a APN 7 101508683 splice site probably benign
PIT1430001:Pde2a UTSW 7 101451477 splice site probably benign
PIT4131001:Pde2a UTSW 7 101511154 missense probably damaging 0.98
PIT4431001:Pde2a UTSW 7 101501897 missense probably damaging 1.00
R1170:Pde2a UTSW 7 101484543 missense probably benign 0.00
R1298:Pde2a UTSW 7 101507202 missense probably benign 0.12
R1300:Pde2a UTSW 7 101510404 missense possibly damaging 0.48
R1451:Pde2a UTSW 7 101421991 nonsense probably null
R1731:Pde2a UTSW 7 101501660 missense probably damaging 1.00
R1863:Pde2a UTSW 7 101511154 missense probably damaging 1.00
R2258:Pde2a UTSW 7 101484567 missense probably damaging 1.00
R2259:Pde2a UTSW 7 101484567 missense probably damaging 1.00
R2260:Pde2a UTSW 7 101484567 missense probably damaging 1.00
R4179:Pde2a UTSW 7 101481383 makesense probably null
R4688:Pde2a UTSW 7 101502834 missense probably benign
R4717:Pde2a UTSW 7 101494672 missense probably benign 0.00
R4723:Pde2a UTSW 7 101494618 missense possibly damaging 0.80
R4758:Pde2a UTSW 7 101511499 missense probably damaging 1.00
R4965:Pde2a UTSW 7 101502933 missense probably benign 0.01
R5034:Pde2a UTSW 7 101502024 missense probably benign 0.01
R5219:Pde2a UTSW 7 101504604 missense probably damaging 1.00
R5533:Pde2a UTSW 7 101505980 missense probably damaging 0.97
R6083:Pde2a UTSW 7 101502879 missense possibly damaging 0.93
R6114:Pde2a UTSW 7 101511112 critical splice acceptor site probably null
R6365:Pde2a UTSW 7 101510363 missense probably damaging 1.00
R6372:Pde2a UTSW 7 101481392 missense probably benign 0.34
R6395:Pde2a UTSW 7 101501035 missense probably benign 0.00
R6482:Pde2a UTSW 7 101501037 missense probably benign 0.11
R6492:Pde2a UTSW 7 101500442 missense possibly damaging 0.71
R6971:Pde2a UTSW 7 101510313 nonsense probably null
R7027:Pde2a UTSW 7 101511597 missense probably damaging 1.00
R7082:Pde2a UTSW 7 101508096 missense probably damaging 1.00
R7107:Pde2a UTSW 7 101421968 missense probably benign 0.01
R7142:Pde2a UTSW 7 101504650 missense probably damaging 1.00
R7203:Pde2a UTSW 7 101509944 missense possibly damaging 0.70
R7231:Pde2a UTSW 7 101505953 missense probably damaging 0.99
R7248:Pde2a UTSW 7 101503390 missense possibly damaging 0.88
R7570:Pde2a UTSW 7 101502834 missense probably benign 0.03
R7632:Pde2a UTSW 7 101484594 missense possibly damaging 0.64
R7658:Pde2a UTSW 7 101511581 missense possibly damaging 0.79
Posted On2015-04-16