Incidental Mutation 'R7570:Pde2a'
ID 585715
Institutional Source Beutler Lab
Gene Symbol Pde2a
Ensembl Gene ENSMUSG00000110195
Gene Name phosphodiesterase 2A, cGMP-stimulated
Synonyms
MMRRC Submission 045631-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.805) question?
Stock # R7570 (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 T at 101152041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 326 (N326I)
Ref Sequence ENSEMBL: ENSMUSP00000147553 (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: N342I

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: N342I

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: N316I

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: N316I

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: N316I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: N316I

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: ENSMUST00000209537
AA Change: N326I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000210364
Predicted Effect probably benign
Transcript: ENSMUST00000211368
AA Change: N316I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (104/106)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,911,591 (GRCm39) T613I probably benign Het
Ajuba T C 14: 54,813,859 (GRCm39) E288G probably damaging Het
Ankrd12 C T 17: 66,292,355 (GRCm39) R1026K probably benign Het
Apol7b T C 15: 77,307,674 (GRCm39) T274A probably benign Het
Arid4a A T 12: 71,109,916 (GRCm39) R86* probably null Het
Asnsd1 C T 1: 53,387,417 (GRCm39) G70D probably damaging Het
Atg4c T A 4: 99,116,797 (GRCm39) V313D possibly damaging Het
Atp13a5 A C 16: 29,085,715 (GRCm39) C885G probably damaging Het
Bpifb9a A T 2: 154,104,183 (GRCm39) I209F possibly damaging Het
Bsn T C 9: 107,990,742 (GRCm39) D1670G probably damaging Het
Cct8 T A 16: 87,288,210 (GRCm39) I121F probably benign Het
Cd209a T G 8: 3,794,151 (GRCm39) D217A probably damaging Het
Cdk19 C T 10: 40,353,954 (GRCm39) S456L possibly damaging Het
Chd9 C T 8: 91,721,208 (GRCm39) H999Y unknown Het
Col5a1 G A 2: 27,841,395 (GRCm39) V339M unknown Het
Cr2 G A 1: 194,851,648 (GRCm39) R115* probably null Het
Cyb561 A T 11: 105,828,470 (GRCm39) F62I probably damaging Het
Cyp2c38 A T 19: 39,393,187 (GRCm39) N293K possibly damaging Het
Cyp2c69 A T 19: 39,848,342 (GRCm39) D293E probably damaging Het
Dcbld2 T A 16: 58,244,932 (GRCm39) C69S possibly damaging Het
Dcdc2a T C 13: 25,303,356 (GRCm39) S296P probably benign Het
Dmxl1 T A 18: 50,027,024 (GRCm39) I2044K possibly damaging Het
Dnah5 A G 15: 28,347,098 (GRCm39) D2527G probably damaging Het
Dnah6 T C 6: 73,126,413 (GRCm39) T1305A probably benign Het
Dnajc9 A G 14: 20,438,712 (GRCm39) V47A probably benign Het
Dnmt3b A G 2: 153,518,619 (GRCm39) Y594C probably damaging Het
Dph7 A G 2: 24,855,642 (GRCm39) D147G probably damaging Het
Drap1 T C 19: 5,473,380 (GRCm39) H164R possibly damaging Het
Dsg3 T A 18: 20,660,837 (GRCm39) V392E possibly damaging Het
Dxo A G 17: 35,056,616 (GRCm39) D81G probably benign Het
E230025N22Rik G T 18: 36,828,645 (GRCm39) T11K probably benign Het
Esyt1 A G 10: 128,354,801 (GRCm39) V533A possibly damaging Het
Etv3 T A 3: 87,443,338 (GRCm39) C307* probably null Het
Fam114a1 T A 5: 65,187,402 (GRCm39) probably null Het
Fam3c T A 6: 22,326,404 (GRCm39) probably benign Het
Fbn1 G T 2: 125,239,772 (GRCm39) T305K probably benign Het
Ggt1 A T 10: 75,421,428 (GRCm39) I484F probably damaging Het
Gpatch1 T C 7: 34,993,237 (GRCm39) D536G probably damaging Het
Gpx4 T C 10: 79,890,875 (GRCm39) I189T probably damaging Het
Gsr T A 8: 34,159,193 (GRCm39) C85S probably damaging Het
Gsta5 A T 9: 78,211,751 (GRCm39) D171V possibly damaging Het
Havcr1 T A 11: 46,661,369 (GRCm39) probably null Het
Heatr4 T C 12: 84,026,418 (GRCm39) T280A probably benign Het
Hmcn2 A T 2: 31,313,923 (GRCm39) E3532D probably benign Het
Hnrnpc T C 14: 52,312,556 (GRCm39) N308S possibly damaging Het
Ighv8-9 A G 12: 115,432,358 (GRCm39) V13A probably benign Het
Itgb2l A T 16: 96,227,439 (GRCm39) F535I probably benign Het
Kdm5a T G 6: 120,404,803 (GRCm39) D1348E probably damaging Het
Kndc1 CT C 7: 139,503,691 (GRCm39) probably null Het
Ky A G 9: 102,419,528 (GRCm39) I512V probably benign Het
Lamc1 A T 1: 153,119,021 (GRCm39) F866Y possibly damaging Het
Lbx1 C A 19: 45,223,687 (GRCm39) probably benign Het
Magel2 A G 7: 62,028,658 (GRCm39) T521A possibly damaging Het
Mgam A T 6: 40,723,367 (GRCm39) I491L probably benign Het
Mitd1 T C 1: 37,929,273 (GRCm39) E40G probably damaging Het
Mpzl3 A G 9: 44,981,985 (GRCm39) T218A probably benign Het
Mrpl42 A G 10: 95,316,827 (GRCm39) S77P probably benign Het
Mup5 C T 4: 61,752,911 (GRCm39) W37* probably null Het
Myh14 T C 7: 44,281,850 (GRCm39) I803V probably benign Het
Ncor2 T A 5: 125,107,153 (GRCm39) T744S Het
Ndufv3 A G 17: 31,746,596 (GRCm39) D162G probably damaging Het
Nostrin A G 2: 69,006,150 (GRCm39) E278G probably damaging Het
Nrxn1 T G 17: 90,469,807 (GRCm39) E1288A probably benign Het
Or4c11c A G 2: 88,661,472 (GRCm39) N4D possibly damaging Het
Or51b6b C A 7: 103,310,088 (GRCm39) R123L probably damaging Het
Or52h1 T A 7: 103,828,955 (GRCm39) Y220F probably damaging Het
Or8g55 A T 9: 39,784,751 (GRCm39) Y60F possibly damaging Het
Patj T A 4: 98,312,737 (GRCm39) probably null Het
Pcm1 T G 8: 41,720,381 (GRCm39) I314R possibly damaging Het
Pcsk6 A G 7: 65,683,646 (GRCm39) T754A probably benign Het
Plekhg4 T C 8: 106,105,316 (GRCm39) S594P possibly damaging Het
Plekhm3 T C 1: 64,977,065 (GRCm39) D135G probably damaging Het
Plin4 A T 17: 56,413,776 (GRCm39) M283K probably benign Het
Ppfia3 T C 7: 44,990,172 (GRCm39) probably null Het
Prdm9 T C 17: 15,775,914 (GRCm39) N179S probably benign Het
Prrt3 T C 6: 113,471,449 (GRCm39) S908G probably damaging Het
Psg22 C A 7: 18,456,660 (GRCm39) S181Y possibly damaging Het
Rcor3 C A 1: 191,822,173 (GRCm39) G8V probably damaging Het
Rp1l1 T A 14: 64,269,023 (GRCm39) C1536* probably null Het
Rpp25l T C 4: 41,712,529 (GRCm39) H82R probably damaging Het
Rps3a1 T A 3: 86,046,396 (GRCm39) M172L probably benign Het
Rtbdn T C 8: 85,679,556 (GRCm39) L110P probably damaging Het
Ryr1 T A 7: 28,778,010 (GRCm39) Q2169L probably damaging Het
Scn4a A T 11: 106,211,299 (GRCm39) C1573S possibly damaging Het
Sec16b A T 1: 157,358,965 (GRCm39) probably null Het
Serpina1a A T 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Sh3gl3 T C 7: 81,934,285 (GRCm39) M262T probably benign Het
Sos2 G A 12: 69,637,654 (GRCm39) T1052M probably damaging Het
Spag16 G A 1: 70,036,000 (GRCm39) V343I probably benign Het
Spocd1 T G 4: 129,823,957 (GRCm39) D251E Het
Stc2 G T 11: 31,317,798 (GRCm39) N74K probably damaging Het
Tasor2 A G 13: 3,623,621 (GRCm39) Y2110H probably damaging Het
Thbs3 C T 3: 89,126,359 (GRCm39) Q227* probably null Het
Tmem92 A C 11: 94,669,816 (GRCm39) I105R probably benign Het
Tmod1 T A 4: 46,083,632 (GRCm39) N20K probably benign Het
Tns1 T C 1: 73,992,638 (GRCm39) D53G probably damaging Het
Tspan33 T A 6: 29,717,337 (GRCm39) L246Q probably damaging Het
Ttc16 A G 2: 32,658,980 (GRCm39) L392P probably damaging Het
Uggt1 T A 1: 36,224,919 (GRCm39) T572S probably benign Het
Usp17la A T 7: 104,509,604 (GRCm39) T70S probably damaging Het
Usp31 C T 7: 121,274,186 (GRCm39) R370H probably damaging Het
Wdr83 C T 8: 85,806,463 (GRCm39) V112M probably damaging Het
Zbtb25 T A 12: 76,416,366 (GRCm39) probably benign Het
Zfp110 T A 7: 12,583,267 (GRCm39) N638K possibly damaging Het
Zfp747l1 T A 7: 126,984,455 (GRCm39) S216C probably benign Het
Zfp820 T C 17: 22,037,994 (GRCm39) T445A 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
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
Predicted Primers PCR Primer
(F):5'- CCCCAGTGTCTTTGGAATGG -3'
(R):5'- CAAAATGTGGGTTCCTCCTCAG -3'

Sequencing Primer
(F):5'- CTTTGGAATGGGGTAGCCTAGAG -3'
(R):5'- GGAACTTCTAGGCTCCCGTGATC -3'
Posted On 2019-10-17