Incidental Mutation 'IGL02442:Gucy1a2'
ID 293463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy1a2
Ensembl Gene ENSMUSG00000041624
Gene Name guanylate cyclase 1, soluble, alpha 2
Synonyms 6330407I18Rik, A230060L24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # IGL02442
Quality Score
Status
Chromosome 9
Chromosomal Location 3532778-3894736 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3865385 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 620 (V620M)
Ref Sequence ENSEMBL: ENSMUSP00000111398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115733]
AlphaFold F8VQK3
Predicted Effect probably damaging
Transcript: ENSMUST00000115733
AA Change: V620M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: V620M

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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik T C 11: 101,990,826 (GRCm38) V116A probably benign Het
Adap2 A G 11: 80,177,206 (GRCm38) E348G probably damaging Het
Ahnak G A 19: 9,004,016 (GRCm38) G888D probably damaging Het
Cdc45 C T 16: 18,798,729 (GRCm38) M200I probably benign Het
Csde1 T C 3: 103,054,819 (GRCm38) C649R probably benign Het
Cym A C 3: 107,214,285 (GRCm38) D230E probably damaging Het
Dnah1 A T 14: 31,287,878 (GRCm38) I1911N probably damaging Het
Fam60a A T 6: 148,928,507 (GRCm38) probably null Het
Fat1 A G 8: 44,950,323 (GRCm38) H37R probably benign Het
Ggt6 T C 11: 72,436,806 (GRCm38) V146A possibly damaging Het
Glud1 T A 14: 34,335,438 (GRCm38) L54* probably null Het
Grk6 A G 13: 55,458,937 (GRCm38) probably benign Het
Gsta4 G A 9: 78,209,165 (GRCm38) V219I probably benign Het
Hspe1 T C 1: 55,089,042 (GRCm38) probably benign Het
Icmt T C 4: 152,298,716 (GRCm38) V76A possibly damaging Het
Ifrd1 A G 12: 40,216,317 (GRCm38) probably benign Het
Lgals12 T C 19: 7,606,654 (GRCm38) probably benign Het
Lypla1 T C 1: 4,832,387 (GRCm38) probably benign Het
Map1b A T 13: 99,508,198 (GRCm38) W66R probably damaging Het
Matn3 T A 12: 8,967,678 (GRCm38) C443* probably null Het
Mup8 T A 4: 60,219,695 (GRCm38) R191W probably damaging Het
Mycbp2 T C 14: 103,314,375 (GRCm38) K140R probably benign Het
Ndfip1 C T 18: 38,447,736 (GRCm38) S66L probably damaging Het
Neu1 A G 17: 34,934,469 (GRCm38) I323V probably benign Het
Nup205 A T 6: 35,190,068 (GRCm38) T341S probably benign Het
Olfr1303 G A 2: 111,813,991 (GRCm38) T245I probably benign Het
Olfr1466 T A 19: 13,342,120 (GRCm38) C121S probably benign Het
Olfr1469 T A 19: 13,410,987 (GRCm38) N139K probably benign Het
Ovch2 T A 7: 107,796,548 (GRCm38) I88F possibly damaging Het
Pkd1 T A 17: 24,565,226 (GRCm38) S249T probably benign Het
Plekhg3 A T 12: 76,578,353 (GRCm38) Q1324L probably benign Het
Ppara T A 15: 85,801,143 (GRCm38) V431E probably benign Het
Prkaa1 T G 15: 5,176,888 (GRCm38) H408Q probably damaging Het
Sap25 T A 5: 137,641,995 (GRCm38) N108K probably benign Het
Setd5 A C 6: 113,110,380 (GRCm38) I81L possibly damaging Het
Sri T A 5: 8,062,411 (GRCm38) M78K probably damaging Het
Tyro3 A G 2: 119,808,868 (GRCm38) N352S probably benign Het
Ubr5 T A 15: 38,037,901 (GRCm38) E332V possibly damaging Het
Vmn2r19 G T 6: 123,309,662 (GRCm38) V85F possibly damaging Het
Vmn2r53 A T 7: 12,581,729 (GRCm38) V721D probably damaging Het
Vwa5a A G 9: 38,734,784 (GRCm38) M483V probably benign Het
Zfp786 T A 6: 47,821,367 (GRCm38) Q212H probably benign Het
Other mutations in Gucy1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00549:Gucy1a2 APN 9 3,759,418 (GRCm38) missense probably damaging 1.00
IGL00768:Gucy1a2 APN 9 3,635,111 (GRCm38) missense possibly damaging 0.65
IGL00928:Gucy1a2 APN 9 3,759,777 (GRCm38) missense probably damaging 1.00
IGL01520:Gucy1a2 APN 9 3,759,561 (GRCm38) missense probably damaging 0.99
IGL01566:Gucy1a2 APN 9 3,634,661 (GRCm38) missense probably damaging 1.00
IGL01819:Gucy1a2 APN 9 3,865,409 (GRCm38) nonsense probably null
IGL01874:Gucy1a2 APN 9 3,797,343 (GRCm38) missense probably damaging 1.00
IGL02608:Gucy1a2 APN 9 3,635,113 (GRCm38) missense probably damaging 0.99
IGL02612:Gucy1a2 APN 9 3,894,556 (GRCm38) missense possibly damaging 0.74
IGL02719:Gucy1a2 APN 9 3,894,719 (GRCm38) utr 3 prime probably benign
IGL02823:Gucy1a2 APN 9 3,894,656 (GRCm38) missense possibly damaging 0.79
IGL02852:Gucy1a2 APN 9 3,759,691 (GRCm38) missense probably benign 0.31
IGL02892:Gucy1a2 APN 9 3,634,471 (GRCm38) missense probably damaging 1.00
IGL02964:Gucy1a2 APN 9 3,759,542 (GRCm38) missense probably damaging 0.96
Rico UTSW 9 3,579,513 (GRCm38) splice site probably null
R0096:Gucy1a2 UTSW 9 3,758,928 (GRCm38) intron probably benign
R0417:Gucy1a2 UTSW 9 3,759,484 (GRCm38) missense possibly damaging 0.80
R0920:Gucy1a2 UTSW 9 3,759,472 (GRCm38) missense probably damaging 1.00
R1146:Gucy1a2 UTSW 9 3,759,830 (GRCm38) missense probably damaging 1.00
R1146:Gucy1a2 UTSW 9 3,759,830 (GRCm38) missense probably damaging 1.00
R1384:Gucy1a2 UTSW 9 3,759,620 (GRCm38) missense probably damaging 1.00
R1631:Gucy1a2 UTSW 9 3,533,052 (GRCm38) missense probably damaging 1.00
R1711:Gucy1a2 UTSW 9 3,759,622 (GRCm38) missense probably benign 0.04
R1730:Gucy1a2 UTSW 9 3,634,957 (GRCm38) missense probably benign 0.36
R1800:Gucy1a2 UTSW 9 3,582,685 (GRCm38) missense possibly damaging 0.62
R2069:Gucy1a2 UTSW 9 3,582,697 (GRCm38) missense probably damaging 1.00
R2166:Gucy1a2 UTSW 9 3,579,513 (GRCm38) splice site probably null
R2357:Gucy1a2 UTSW 9 3,797,299 (GRCm38) missense probably damaging 0.97
R3401:Gucy1a2 UTSW 9 3,635,154 (GRCm38) missense probably benign 0.00
R3953:Gucy1a2 UTSW 9 3,582,704 (GRCm38) splice site probably benign
R4420:Gucy1a2 UTSW 9 3,634,640 (GRCm38) missense probably damaging 1.00
R4731:Gucy1a2 UTSW 9 3,759,424 (GRCm38) missense probably benign 0.02
R4732:Gucy1a2 UTSW 9 3,759,424 (GRCm38) missense probably benign 0.02
R4733:Gucy1a2 UTSW 9 3,759,424 (GRCm38) missense probably benign 0.02
R4931:Gucy1a2 UTSW 9 3,759,588 (GRCm38) missense probably damaging 1.00
R5094:Gucy1a2 UTSW 9 3,865,443 (GRCm38) missense probably damaging 1.00
R5852:Gucy1a2 UTSW 9 3,865,460 (GRCm38) missense probably damaging 0.99
R6005:Gucy1a2 UTSW 9 3,865,518 (GRCm38) splice site probably null
R7667:Gucy1a2 UTSW 9 3,759,580 (GRCm38) missense probably damaging 1.00
R7841:Gucy1a2 UTSW 9 3,634,766 (GRCm38) missense probably benign 0.03
R7866:Gucy1a2 UTSW 9 3,532,804 (GRCm38) start codon destroyed probably null
R8525:Gucy1a2 UTSW 9 3,865,365 (GRCm38) missense probably damaging 1.00
R8802:Gucy1a2 UTSW 9 3,635,050 (GRCm38) missense probably benign 0.03
R9098:Gucy1a2 UTSW 9 3,634,489 (GRCm38) missense probably benign 0.00
R9127:Gucy1a2 UTSW 9 3,634,553 (GRCm38) missense probably damaging 1.00
Z1176:Gucy1a2 UTSW 9 3,635,156 (GRCm38) missense probably damaging 1.00
Z1177:Gucy1a2 UTSW 9 3,797,245 (GRCm38) missense probably damaging 0.97
Posted On 2015-04-16