Incidental Mutation 'IGL02725:Pde2a'
ID 305174
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 # IGL02725
Quality Score
Status
Chromosome 7
Chromosomal Location 101070905-101162026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 101156425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 616 (M616I)
Ref Sequence ENSEMBL: ENSMUSP00000131553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084894] [ENSMUST00000163751] [ENSMUST00000166652] [ENSMUST00000209537] [ENSMUST00000210364] [ENSMUST00000211368]
AlphaFold Q922S4
Predicted Effect probably null
Transcript: ENSMUST00000084894
AA Change: M638I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: M638I

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 null
Transcript: ENSMUST00000163751
AA Change: M616I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: M616I

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 null
Transcript: ENSMUST00000166652
AA Change: M612I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: M612I

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 null
Transcript: ENSMUST00000209537
AA Change: M622I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210364
Predicted Effect probably null
Transcript: ENSMUST00000211368
AA Change: M612I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,611,445 (GRCm39) I414T possibly damaging Het
Agpat3 A C 10: 78,113,889 (GRCm39) D266E probably benign Het
Alpk3 G T 7: 80,743,358 (GRCm39) Q1058H possibly damaging Het
Atat1 A T 17: 36,220,381 (GRCm39) V37E probably benign Het
Bcl6b A G 11: 70,119,344 (GRCm39) V124A probably damaging Het
Bmt2 T C 6: 13,628,495 (GRCm39) E396G probably damaging Het
Ccdc50 T C 16: 27,255,347 (GRCm39) C237R probably benign Het
Chd9 A G 8: 91,778,312 (GRCm39) I2790M possibly damaging Het
Chkb A G 15: 89,313,340 (GRCm39) L82P probably damaging Het
Cit T C 5: 116,123,532 (GRCm39) Y1458H probably benign Het
Clp1 T A 2: 84,554,208 (GRCm39) K320N probably benign Het
Cry2 T C 2: 92,243,605 (GRCm39) probably benign Het
Cyp20a1 C T 1: 60,405,865 (GRCm39) R220W probably benign Het
Cyp27a1 C T 1: 74,774,862 (GRCm39) P268S probably damaging Het
Cyp2e1 T G 7: 140,343,828 (GRCm39) I22S probably null Het
Defb34 A G 8: 19,173,774 (GRCm39) T3A unknown Het
Dpy19l3 A T 7: 35,411,343 (GRCm39) M422K probably benign Het
Eif4g3 A T 4: 137,897,782 (GRCm39) probably benign Het
Elmod3 A G 6: 72,571,758 (GRCm39) S7P probably damaging Het
Fam151a T G 4: 106,605,211 (GRCm39) S524R probably damaging Het
Gcc1 A T 6: 28,418,458 (GRCm39) V625E probably benign Het
Glmn G A 5: 107,723,155 (GRCm39) P112S possibly damaging Het
Grm5 A C 7: 87,723,873 (GRCm39) D721A probably damaging Het
Hivep3 T C 4: 119,953,019 (GRCm39) V445A possibly damaging Het
Hmcn1 T A 1: 150,480,654 (GRCm39) E4507D possibly damaging Het
Hmcn2 A C 2: 31,295,540 (GRCm39) E2583A probably damaging Het
Ifnb1 T A 4: 88,440,867 (GRCm39) I49F probably benign Het
Ints8 A C 4: 11,239,406 (GRCm39) C306W probably benign Het
Jakmip2 A G 18: 43,695,655 (GRCm39) S540P probably damaging Het
Kctd1 A G 18: 15,102,667 (GRCm39) V838A possibly damaging Het
Klk10 T C 7: 43,431,044 (GRCm39) L29P probably damaging Het
Lyst T A 13: 13,935,412 (GRCm39) I3627K probably damaging Het
Maml3 A G 3: 52,011,195 (GRCm39) S124P probably damaging Het
Nav2 A T 7: 49,214,843 (GRCm39) K1632I probably damaging Het
Or2ab1 T C 11: 58,488,690 (GRCm39) V156A probably benign Het
Pdia2 T C 17: 26,415,506 (GRCm39) D440G probably benign Het
Rab11fip5 A G 6: 85,351,471 (GRCm39) S14P probably damaging Het
Rhpn2 T C 7: 35,079,031 (GRCm39) S383P probably damaging Het
Rnf220 A G 4: 117,129,576 (GRCm39) probably benign Het
Rnf43 A G 11: 87,622,411 (GRCm39) D504G probably damaging Het
Setbp1 A T 18: 78,900,589 (GRCm39) L1026* probably null Het
Slc1a4 A T 11: 20,258,408 (GRCm39) S264T probably damaging Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sptan1 T C 2: 29,886,055 (GRCm39) I739T probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stat5b A T 11: 100,695,840 (GRCm39) D47E possibly damaging Het
Taar7b A T 10: 23,875,961 (GRCm39) Y42F probably benign Het
Tfdp2 T A 9: 96,169,748 (GRCm39) I33K possibly damaging Het
Tm4sf5 A G 11: 70,401,448 (GRCm39) H149R probably benign Het
Tmco6 A G 18: 36,871,760 (GRCm39) M257V probably benign Het
Tuba8 G T 6: 121,202,916 (GRCm39) G410* probably null Het
Ubd T A 17: 37,504,853 (GRCm39) V4D probably benign Het
Ugt2b34 C T 5: 87,054,284 (GRCm39) V166I probably benign Het
Vmn2r70 C T 7: 85,214,553 (GRCm39) V200I possibly damaging Het
Wdcp A T 12: 4,901,206 (GRCm39) N354I probably damaging Het
Wipi2 A T 5: 142,652,618 (GRCm39) Y410F possibly damaging Het
Zc3hav1 G T 6: 38,309,127 (GRCm39) P565Q probably damaging Het
Zfp398 T C 6: 47,842,737 (GRCm39) V131A probably benign Het
Zkscan3 T C 13: 21,579,063 (GRCm39) D144G possibly damaging Het
Zpbp T A 11: 11,412,358 (GRCm39) 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
IGL02318:Pde2a APN 7 101,152,550 (GRCm39) missense possibly damaging 0.79
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
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