Incidental Mutation 'IGL02852:Gucy1a2'
ID361929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy1a2
Ensembl Gene ENSMUSG00000041624
Gene Nameguanylate cyclase 1, soluble, alpha 2
Synonyms6330407I18Rik, A230060L24Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.402) question?
Stock #IGL02852
Quality Score
Status
Chromosome9
Chromosomal Location3532778-3894736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3759691 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 499 (D499G)
Ref Sequence ENSEMBL: ENSMUSP00000111398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115733]
Predicted Effect probably benign
Transcript: ENSMUST00000115733
AA Change: D499G

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: D499G

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
low complexity region 38 49 N/A INTRINSIC
low complexity region 51 72 N/A INTRINSIC
Pfam:HNOB 121 268 3e-19 PFAM
PDB:4GJ4|D 316 441 1e-17 PDB
CYCc 483 674 6.58e-93 SMART
low complexity region 701 715 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213060
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null mutation display normal blood vessel and platelet physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcar1 A T 8: 111,715,347 L287* probably null Het
Birc3 A G 9: 7,854,483 I402T probably damaging Het
Btrc T A 19: 45,512,656 L153* probably null Het
C2cd3 T C 7: 100,430,189 F1245L probably damaging Het
Cabp7 C T 11: 4,738,912 R186H probably damaging Het
Cdk5r2 T C 1: 74,856,139 S348P probably benign Het
Clca3a2 T C 3: 144,806,343 D544G probably damaging Het
Col6a6 A C 9: 105,784,073 I279S probably damaging Het
Csmd1 T A 8: 15,895,728 T3562S probably damaging Het
Dgkd T C 1: 87,935,413 S61P probably damaging Het
Dph5 T A 3: 115,928,671 M266K possibly damaging Het
Gm14226 G A 2: 155,024,921 S266N possibly damaging Het
Gm28047 A G 15: 102,538,218 V400A possibly damaging Het
Gm4788 T C 1: 139,774,016 Y120C probably damaging Het
Hoxb7 C T 11: 96,289,494 T173M possibly damaging Het
Kcnn3 T A 3: 89,609,616 I444N probably damaging Het
Kif1b A G 4: 149,291,328 I27T probably damaging Het
Krtap8-1 A G 16: 89,487,865 Y15H probably benign Het
Myo18b C T 5: 112,715,511 V2154I probably benign Het
Pcdhb3 A G 18: 37,302,097 D372G probably damaging Het
Pfkp G T 13: 6,605,023 P340Q possibly damaging Het
Plcd3 C T 11: 103,073,805 R580Q probably damaging Het
Pou5f2 G A 13: 78,025,059 R40Q probably benign Het
Ppara G T 15: 85,797,878 M258I probably benign Het
Proc A G 18: 32,125,155 S246P probably damaging Het
Ptpn21 T C 12: 98,715,195 probably null Het
Ripor2 T C 13: 24,695,698 F383S probably damaging Het
Rnf39 T C 17: 36,945,202 probably benign Het
Sema6c C A 3: 95,169,984 probably benign Het
Slc16a5 A G 11: 115,469,579 E196G probably benign Het
Slco1c1 T A 6: 141,547,824 L313* probably null Het
Slit2 T C 5: 48,244,672 F789S probably damaging Het
Spta1 A G 1: 174,244,110 M2219V probably benign Het
Sqle A T 15: 59,326,071 H380L probably damaging Het
Tek T C 4: 94,855,324 Y859H probably damaging Het
Trcg1 A T 9: 57,241,312 T56S possibly damaging Het
Ttc23 T A 7: 67,667,155 probably benign Het
Ttn A G 2: 76,944,304 probably benign Het
Uba1y C T Y: 828,841 R550* probably null Het
Ubqln4 T C 3: 88,555,471 V81A probably damaging Het
Ugt2b38 C T 5: 87,411,741 E431K probably benign Het
Vmn1r85 T G 7: 13,085,083 I45L possibly damaging Het
Vmn2r68 T G 7: 85,233,387 S386R probably damaging Het
Washc4 A G 10: 83,583,309 T902A possibly damaging Het
Zc3h15 G A 2: 83,644,671 A7T possibly damaging Het
Zdhhc19 A C 16: 32,497,642 T72P probably damaging Het
Zfp729a A T 13: 67,619,951 S720T possibly damaging Het
Zfp729b T C 13: 67,592,823 K441R probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign Het
Other mutations in Gucy1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00549:Gucy1a2 APN 9 3759418 missense probably damaging 1.00
IGL00768:Gucy1a2 APN 9 3635111 missense possibly damaging 0.65
IGL00928:Gucy1a2 APN 9 3759777 missense probably damaging 1.00
IGL01520:Gucy1a2 APN 9 3759561 missense probably damaging 0.99
IGL01566:Gucy1a2 APN 9 3634661 missense probably damaging 1.00
IGL01819:Gucy1a2 APN 9 3865409 nonsense probably null
IGL01874:Gucy1a2 APN 9 3797343 missense probably damaging 1.00
IGL02442:Gucy1a2 APN 9 3865385 missense probably damaging 1.00
IGL02608:Gucy1a2 APN 9 3635113 missense probably damaging 0.99
IGL02612:Gucy1a2 APN 9 3894556 missense possibly damaging 0.74
IGL02719:Gucy1a2 APN 9 3894719 utr 3 prime probably benign
IGL02823:Gucy1a2 APN 9 3894656 missense possibly damaging 0.79
IGL02892:Gucy1a2 APN 9 3634471 missense probably damaging 1.00
IGL02964:Gucy1a2 APN 9 3759542 missense probably damaging 0.96
Rico UTSW 9 3579513 splice site probably null
R0096:Gucy1a2 UTSW 9 3758928 intron probably benign
R0417:Gucy1a2 UTSW 9 3759484 missense possibly damaging 0.80
R0920:Gucy1a2 UTSW 9 3759472 missense probably damaging 1.00
R1146:Gucy1a2 UTSW 9 3759830 missense probably damaging 1.00
R1146:Gucy1a2 UTSW 9 3759830 missense probably damaging 1.00
R1384:Gucy1a2 UTSW 9 3759620 missense probably damaging 1.00
R1631:Gucy1a2 UTSW 9 3533052 missense probably damaging 1.00
R1711:Gucy1a2 UTSW 9 3759622 missense probably benign 0.04
R1730:Gucy1a2 UTSW 9 3634957 missense probably benign 0.36
R1800:Gucy1a2 UTSW 9 3582685 missense possibly damaging 0.62
R2069:Gucy1a2 UTSW 9 3582697 missense probably damaging 1.00
R2166:Gucy1a2 UTSW 9 3579513 splice site probably null
R2357:Gucy1a2 UTSW 9 3797299 missense probably damaging 0.97
R3401:Gucy1a2 UTSW 9 3635154 missense probably benign 0.00
R3953:Gucy1a2 UTSW 9 3582704 splice site probably benign
R4420:Gucy1a2 UTSW 9 3634640 missense probably damaging 1.00
R4731:Gucy1a2 UTSW 9 3759424 missense probably benign 0.02
R4732:Gucy1a2 UTSW 9 3759424 missense probably benign 0.02
R4733:Gucy1a2 UTSW 9 3759424 missense probably benign 0.02
R4931:Gucy1a2 UTSW 9 3759588 missense probably damaging 1.00
R5094:Gucy1a2 UTSW 9 3865443 missense probably damaging 1.00
R5852:Gucy1a2 UTSW 9 3865460 missense probably damaging 0.99
R6005:Gucy1a2 UTSW 9 3865518 splice site probably null
R7667:Gucy1a2 UTSW 9 3759580 missense probably damaging 1.00
R7841:Gucy1a2 UTSW 9 3634766 missense probably benign 0.03
R7866:Gucy1a2 UTSW 9 3532804 start codon destroyed probably null
R8525:Gucy1a2 UTSW 9 3865365 missense probably damaging 1.00
R8802:Gucy1a2 UTSW 9 3635050 missense probably benign 0.03
Z1176:Gucy1a2 UTSW 9 3635156 missense probably damaging 1.00
Z1177:Gucy1a2 UTSW 9 3797245 missense probably damaging 0.97
Posted On2015-12-18