Incidental Mutation 'R6492:Pde2a'
ID 522972
Institutional Source Beutler Lab
Gene Symbol Pde2a
Ensembl Gene ENSMUSG00000110195
Gene Name phosphodiesterase 2A, cGMP-stimulated
Synonyms
MMRRC Submission 044624-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.807) question?
Stock # R6492 (G1)
Quality Score 166.009
Status Validated
Chromosome 7
Chromosomal Location 101070905-101162026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101149649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 180 (K180E)
Ref Sequence ENSEMBL: ENSMUSP00000147847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084894] [ENSMUST00000163751] [ENSMUST00000166652] [ENSMUST00000209537] [ENSMUST00000210364] [ENSMUST00000211368]
AlphaFold Q922S4
Predicted Effect possibly damaging
Transcript: ENSMUST00000084894
AA Change: K206E

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: K206E

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: K180E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: K180E

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 possibly damaging
Transcript: ENSMUST00000166652
AA Change: K180E

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: K180E

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: K190E

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000210364
Predicted Effect possibly damaging
Transcript: ENSMUST00000211368
AA Change: K180E

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211051
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.5%
Validation Efficiency 100% (60/60)
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
A2m C T 6: 121,631,464 (GRCm39) T587I probably benign Het
Abl1 T A 2: 31,691,667 (GRCm39) M1062K probably benign Het
Agbl4 G A 4: 111,404,469 (GRCm39) D272N probably damaging Het
Apob A T 12: 8,058,261 (GRCm39) I2215F probably damaging Het
Atp10b A T 11: 43,109,784 (GRCm39) Q821H probably damaging Het
Atp1a3 T C 7: 24,678,729 (GRCm39) Y971C probably damaging Het
Atp6ap1l A T 13: 91,031,841 (GRCm39) H280Q probably damaging Het
B4galt2 A T 4: 117,734,164 (GRCm39) M291K probably damaging Het
Cachd1 G T 4: 100,809,315 (GRCm39) V267F possibly damaging Het
Cadm2 G T 16: 66,581,715 (GRCm39) L188M probably damaging Het
Ccn6 C T 10: 39,030,983 (GRCm39) G180D probably benign Het
Ceacam19 T C 7: 19,616,517 (GRCm39) N199S probably benign Het
Chrna5 A G 9: 54,905,347 (GRCm39) D53G probably benign Het
Clca4a T A 3: 144,663,059 (GRCm39) T597S probably benign Het
Cluap1 T A 16: 3,746,476 (GRCm39) M279K probably benign Het
Cngb1 T A 8: 95,991,052 (GRCm39) M717L probably benign Het
Cp T C 3: 20,036,186 (GRCm39) V777A probably benign Het
Drosha A G 15: 12,861,792 (GRCm39) D594G probably benign Het
Exo5 A G 4: 120,778,734 (GRCm39) probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gprc5b A G 7: 118,583,800 (GRCm39) I23T possibly damaging Het
Ikbke T C 1: 131,186,955 (GRCm39) Y579C probably damaging Het
Ikzf2 T C 1: 69,578,201 (GRCm39) Y362C probably damaging Het
Itfg1 A G 8: 86,466,978 (GRCm39) V365A probably benign Het
Josd2 T C 7: 44,120,578 (GRCm39) I105T probably damaging Het
Mc3r G A 2: 172,091,074 (GRCm39) A99T possibly damaging Het
Mettl22 T A 16: 8,306,755 (GRCm39) probably null Het
Mgat5 A G 1: 127,399,301 (GRCm39) I619V probably benign Het
Nin T C 12: 70,101,308 (GRCm39) I430V probably benign Het
Or52n2c C A 7: 104,574,852 (GRCm39) A40S possibly damaging Het
Or5au1 A G 14: 52,272,902 (GRCm39) F222S probably benign Het
Or5j3 T C 2: 86,128,990 (GRCm39) F277L probably benign Het
Or5w22 C G 2: 87,363,085 (GRCm39) A236G possibly damaging Het
Or8k3 T A 2: 86,058,731 (GRCm39) I195F possibly damaging Het
Parvb T C 15: 84,188,073 (GRCm39) L272P probably damaging Het
Pik3c3 C T 18: 30,457,615 (GRCm39) T736M probably damaging Het
Plcb4 C T 2: 135,814,991 (GRCm39) R760* probably null Het
Pramel6 C T 2: 87,340,766 (GRCm39) T366I probably benign Het
Prr29 C T 11: 106,266,062 (GRCm39) R42W probably damaging Het
Prss12 A G 3: 123,241,048 (GRCm39) I81V probably benign Het
Ptpn13 A G 5: 103,649,478 (GRCm39) T294A probably benign Het
Ptprc A T 1: 138,041,300 (GRCm39) probably null Het
Sin3b T A 8: 73,460,118 (GRCm39) probably null Het
Slco5a1 T C 1: 13,060,151 (GRCm39) Y190C probably damaging Het
Slco6c1 T G 1: 97,053,538 (GRCm39) Y121S probably damaging Het
Srcap G T 7: 127,121,317 (GRCm39) G217* probably null Het
Ss18 A T 18: 14,784,145 (GRCm39) M181K probably damaging Het
Synm T C 7: 67,385,809 (GRCm39) T176A probably benign Het
Taf3 T C 2: 9,955,971 (GRCm39) E579G probably damaging Het
Taf7 A G 18: 37,776,159 (GRCm39) I136T probably damaging Het
Tfap2d G C 1: 19,174,702 (GRCm39) G52R probably benign Het
Tyrp1 A G 4: 80,759,018 (GRCm39) D297G probably null Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Wwp1 G A 4: 19,650,299 (GRCm39) S289L possibly damaging Het
Xbp1 T C 11: 5,471,005 (GRCm39) V4A probably benign Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zbtb2 T C 10: 4,319,711 (GRCm39) Y105C probably damaging Het
Zeb2 T C 2: 45,000,508 (GRCm39) probably benign Het
Zkscan8 A T 13: 21,709,397 (GRCm39) I167N 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
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
Predicted Primers PCR Primer
(F):5'- TAGCTGCCTGGCTTACATGG -3'
(R):5'- TCAGTTATACACAGGGTCTTTGAC -3'

Sequencing Primer
(F):5'- CCTGGCTTACATGGAGGTCATAGAC -3'
(R):5'- ACAGGGTCTTTGACTCATCACTAAC -3'
Posted On 2018-06-06