Incidental Mutation 'R7632:Pde2a'
ID 589698
Institutional Source Beutler Lab
Gene Symbol Pde2a
Ensembl Gene ENSMUSG00000110195
Gene Name phosphodiesterase 2A, cGMP-stimulated
Synonyms
MMRRC Submission 045720-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.807) question?
Stock # R7632 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 101070905-101162026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101133801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 104 (D104G)
Ref Sequence ENSEMBL: ENSMUSP00000147553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084894] [ENSMUST00000163751] [ENSMUST00000166652] [ENSMUST00000209537] [ENSMUST00000210092] [ENSMUST00000210364] [ENSMUST00000211368]
AlphaFold Q922S4
Predicted Effect possibly damaging
Transcript: ENSMUST00000084894
AA Change: D120G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: D120G

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 benign
Transcript: ENSMUST00000163751
AA Change: D94G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: D94G

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: D94G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: D94G

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: ENSMUST00000209537
AA Change: D104G

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000210092
Predicted Effect probably benign
Transcript: ENSMUST00000210364
Predicted Effect probably benign
Transcript: ENSMUST00000211368
AA Change: D94G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 95% (63/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 A G 7: 141,211,236 (GRCm39) D924G probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atrnl1 A G 19: 57,618,738 (GRCm39) D152G probably damaging Het
B3gnt8 A G 7: 25,327,860 (GRCm39) I97V possibly damaging Het
Bach1 A G 16: 87,517,031 (GRCm39) D524G probably benign Het
Caprin2 T C 6: 148,784,954 (GRCm39) S107G probably damaging Het
Ccnb1 A G 13: 100,918,209 (GRCm39) I207T probably benign Het
Cdh11 T C 8: 103,400,515 (GRCm39) D151G probably damaging Het
Cdh9 A G 15: 16,851,115 (GRCm39) probably null Het
Cep83 A T 10: 94,586,502 (GRCm39) R433W probably damaging Het
Cspg4b C A 13: 113,457,420 (GRCm39) S1155R Het
D3Ertd751e A G 3: 41,708,163 (GRCm39) E100G probably benign Het
Dchs2 C T 3: 83,255,357 (GRCm39) A2351V probably benign Het
Dhx40 T C 11: 86,690,263 (GRCm39) T253A probably benign Het
Dqx1 A G 6: 83,036,680 (GRCm39) D228G probably benign Het
Dync1h1 T C 12: 110,627,327 (GRCm39) M4002T probably benign Het
Flcn C T 11: 59,686,625 (GRCm39) W376* probably null Het
Flnc A T 6: 29,446,984 (GRCm39) Y1037F probably damaging Het
Fut11 T A 14: 20,745,096 (GRCm39) V9E probably benign Het
Fv1 T A 4: 147,954,392 (GRCm39) N319K possibly damaging Het
Ghrhr G T 6: 55,361,727 (GRCm39) G298V probably benign Het
Gm5800 T A 14: 51,953,905 (GRCm39) probably null Het
Grin2b A G 6: 135,709,553 (GRCm39) M1331T probably benign Het
Hyou1 A G 9: 44,292,433 (GRCm39) probably null Het
Igkv1-117 C A 6: 68,098,792 (GRCm39) Q114K probably damaging Het
Igkv4-68 A G 6: 69,282,048 (GRCm39) V41A possibly damaging Het
Inpp4b A G 8: 82,772,968 (GRCm39) N754S probably damaging Het
Isl2 G A 9: 55,448,440 (GRCm39) probably null Het
Kat2a G A 11: 100,599,422 (GRCm39) Q523* probably null Het
Lypd3 T C 7: 24,337,865 (GRCm39) F77S possibly damaging Het
Map4k2 T C 19: 6,394,084 (GRCm39) L297P probably benign Het
Naca T C 10: 127,876,375 (GRCm39) V469A unknown Het
Notch3 C T 17: 32,377,480 (GRCm39) V199I probably benign Het
Or4k44 T C 2: 111,368,521 (GRCm39) I38V possibly damaging Het
Or5b119 T C 19: 13,456,795 (GRCm39) M256V possibly damaging Het
Pabpc1 TGTACCTGTTGCATGGTA TGTA 15: 36,598,212 (GRCm39) probably null Het
Pcdhb8 A T 18: 37,488,648 (GRCm39) I109L probably benign Het
Phip A G 9: 82,785,243 (GRCm39) V824A probably benign Het
Plekhg4 T C 8: 106,106,782 (GRCm39) Y853H probably damaging Het
Plod1 T C 4: 148,011,481 (GRCm39) K248R probably damaging Het
Plxnd1 A T 6: 115,953,600 (GRCm39) Y656N probably benign Het
Pogz G A 3: 94,763,517 (GRCm39) probably null Het
Ppp1r3e T A 14: 55,114,526 (GRCm39) S79C probably damaging Het
Pprc1 T A 19: 46,060,721 (GRCm39) D1595E probably damaging Het
Ptprq A G 10: 107,547,783 (GRCm39) V205A probably benign Het
Rad51ap2 T C 12: 11,507,116 (GRCm39) V346A possibly damaging Het
Rgs12 T A 5: 35,122,934 (GRCm39) L239H probably damaging Het
Rrp8 T C 7: 105,385,727 (GRCm39) probably benign Het
Rsf1 GGCG GGCGACCGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scaf1 A T 7: 44,656,503 (GRCm39) V792D unknown Het
Scrn2 G T 11: 96,923,968 (GRCm39) R284L possibly damaging Het
Sgsm1 T A 5: 113,423,948 (GRCm39) Q461L possibly damaging Het
Slc18b1 A G 10: 23,702,080 (GRCm39) T434A probably benign Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smc4 CTA CTATA 3: 68,925,400 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,702 (GRCm39) D122E probably damaging Het
Srebf2 G T 15: 82,069,497 (GRCm39) V680L probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Tecpr1 C T 5: 144,155,544 (GRCm39) V5M probably benign Het
Tfg A G 16: 56,532,997 (GRCm39) V54A possibly damaging Het
Tmem237 C T 1: 59,156,060 (GRCm39) C30Y probably benign Het
Tmem245 T C 4: 56,916,787 (GRCm39) K444R probably benign Het
Trim25 T G 11: 88,906,602 (GRCm39) L446R probably null Het
Usp37 T C 1: 74,507,533 (GRCm39) T495A probably benign Het
Vmn1r94 T G 7: 19,901,696 (GRCm39) T203P probably damaging Het
Ywhah T A 5: 33,184,010 (GRCm39) M71K 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
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
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
Predicted Primers PCR Primer
(F):5'- TTGGCTCACACCTTGGATTGAG -3'
(R):5'- ATTACTTCGCAGTAGACCCAC -3'

Sequencing Primer
(F):5'- GAGTAACAGATTCCTGGATCTCTGC -3'
(R):5'- CCACTTGGGCAGGGAGAC -3'
Posted On 2019-10-24