Incidental Mutation 'IGL01819:Gucy1a2'
ID 154460
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: 0.279) question?
Stock # IGL01819
Quality Score
Status
Chromosome 9
Chromosomal Location 3532778-3894736 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 3865409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 628 (R628*)
Ref Sequence ENSEMBL: ENSMUSP00000111398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115733]
AlphaFold F8VQK3
Predicted Effect probably null
Transcript: ENSMUST00000115733
AA Change: R628*
SMART Domains Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: R628*

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2b A G 11: 62,156,010 (GRCm39) N153S possibly damaging Het
Afm C T 5: 90,672,765 (GRCm39) T200I probably benign Het
Cyp2c67 T C 19: 39,604,165 (GRCm39) D397G probably damaging Het
Dnah9 A G 11: 65,998,952 (GRCm39) V1032A probably benign Het
Elovl7 T G 13: 108,410,854 (GRCm39) V143G probably damaging Het
Fhl4 T C 10: 84,934,734 (GRCm39) K16E probably damaging Het
Golga1 C T 2: 38,924,161 (GRCm39) C383Y probably benign Het
Hectd4 A G 5: 121,466,481 (GRCm39) D2432G possibly damaging Het
Iqcf5 T A 9: 106,393,189 (GRCm39) *149R probably null Het
Kcnab1 T A 3: 65,226,875 (GRCm39) Y185N probably damaging Het
Lars1 G T 18: 42,335,615 (GRCm39) T1167K probably benign Het
Mib2 A T 4: 155,739,715 (GRCm39) probably null Het
Mrps2 T C 2: 28,358,348 (GRCm39) V46A probably benign Het
Myo18b T C 5: 113,025,916 (GRCm39) T45A unknown Het
Myo1e C T 9: 70,250,322 (GRCm39) probably benign Het
Or10ag59 A G 2: 87,405,823 (GRCm39) I132V probably damaging Het
Or4k39 T A 2: 111,239,078 (GRCm39) V106E probably damaging Het
Osbp2 A T 11: 3,667,127 (GRCm39) I8N probably damaging Het
Pcdhb22 A T 18: 37,652,974 (GRCm39) N481Y probably damaging Het
Pde3a T C 6: 141,433,263 (GRCm39) W765R probably damaging Het
Phf11c T C 14: 59,630,586 (GRCm39) T40A probably benign Het
Pih1d2 T A 9: 50,533,177 (GRCm39) S268R probably benign Het
Pkd1l2 T C 8: 117,724,913 (GRCm39) N2333D probably damaging Het
Prex1 A G 2: 166,463,165 (GRCm39) I62T probably damaging Het
Ptcd2 T C 13: 99,463,219 (GRCm39) N245S possibly damaging Het
Ripor3 C A 2: 167,822,763 (GRCm39) V933F probably damaging Het
Sanbr A G 11: 23,534,561 (GRCm39) S105P probably benign Het
Sphk2 A G 7: 45,360,480 (GRCm39) probably null Het
Tfcp2 T G 15: 100,402,320 (GRCm39) E492D probably benign Het
Ttn C T 2: 76,629,106 (GRCm39) V14411I possibly damaging Het
Utp20 T C 10: 88,628,549 (GRCm39) Q915R probably damaging Het
Vmn2r45 C A 7: 8,488,556 (GRCm39) S158I probably benign Het
Other mutations in Gucy1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00549:Gucy1a2 APN 9 3,759,418 (GRCm39) missense probably damaging 1.00
IGL00768:Gucy1a2 APN 9 3,635,111 (GRCm39) missense possibly damaging 0.65
IGL00928:Gucy1a2 APN 9 3,759,777 (GRCm39) missense probably damaging 1.00
IGL01520:Gucy1a2 APN 9 3,759,561 (GRCm39) missense probably damaging 0.99
IGL01566:Gucy1a2 APN 9 3,634,661 (GRCm39) missense probably damaging 1.00
IGL01874:Gucy1a2 APN 9 3,797,343 (GRCm39) missense probably damaging 1.00
IGL02442:Gucy1a2 APN 9 3,865,385 (GRCm39) missense probably damaging 1.00
IGL02608:Gucy1a2 APN 9 3,635,113 (GRCm39) missense probably damaging 0.99
IGL02612:Gucy1a2 APN 9 3,894,556 (GRCm39) missense possibly damaging 0.74
IGL02719:Gucy1a2 APN 9 3,894,719 (GRCm39) utr 3 prime probably benign
IGL02823:Gucy1a2 APN 9 3,894,656 (GRCm39) missense possibly damaging 0.79
IGL02852:Gucy1a2 APN 9 3,759,691 (GRCm39) missense probably benign 0.31
IGL02892:Gucy1a2 APN 9 3,634,471 (GRCm39) missense probably damaging 1.00
IGL02964:Gucy1a2 APN 9 3,759,542 (GRCm39) missense probably damaging 0.96
Rico UTSW 9 3,579,513 (GRCm39) splice site probably null
R0096:Gucy1a2 UTSW 9 3,758,928 (GRCm39) intron probably benign
R0417:Gucy1a2 UTSW 9 3,759,484 (GRCm39) missense possibly damaging 0.80
R0920:Gucy1a2 UTSW 9 3,759,472 (GRCm39) missense probably damaging 1.00
R1146:Gucy1a2 UTSW 9 3,759,830 (GRCm39) missense probably damaging 1.00
R1146:Gucy1a2 UTSW 9 3,759,830 (GRCm39) missense probably damaging 1.00
R1384:Gucy1a2 UTSW 9 3,759,620 (GRCm39) missense probably damaging 1.00
R1631:Gucy1a2 UTSW 9 3,533,052 (GRCm39) missense probably damaging 1.00
R1711:Gucy1a2 UTSW 9 3,759,622 (GRCm39) missense probably benign 0.04
R1730:Gucy1a2 UTSW 9 3,634,957 (GRCm39) missense probably benign 0.36
R1800:Gucy1a2 UTSW 9 3,582,685 (GRCm39) missense possibly damaging 0.62
R2069:Gucy1a2 UTSW 9 3,582,697 (GRCm39) missense probably damaging 1.00
R2166:Gucy1a2 UTSW 9 3,579,513 (GRCm39) splice site probably null
R2357:Gucy1a2 UTSW 9 3,797,299 (GRCm39) missense probably damaging 0.97
R3401:Gucy1a2 UTSW 9 3,635,154 (GRCm39) missense probably benign 0.00
R3953:Gucy1a2 UTSW 9 3,582,704 (GRCm39) splice site probably benign
R4420:Gucy1a2 UTSW 9 3,634,640 (GRCm39) missense probably damaging 1.00
R4731:Gucy1a2 UTSW 9 3,759,424 (GRCm39) missense probably benign 0.02
R4732:Gucy1a2 UTSW 9 3,759,424 (GRCm39) missense probably benign 0.02
R4733:Gucy1a2 UTSW 9 3,759,424 (GRCm39) missense probably benign 0.02
R4931:Gucy1a2 UTSW 9 3,759,588 (GRCm39) missense probably damaging 1.00
R5094:Gucy1a2 UTSW 9 3,865,443 (GRCm39) missense probably damaging 1.00
R5852:Gucy1a2 UTSW 9 3,865,460 (GRCm39) missense probably damaging 0.99
R6005:Gucy1a2 UTSW 9 3,865,518 (GRCm39) splice site probably null
R7667:Gucy1a2 UTSW 9 3,759,580 (GRCm39) missense probably damaging 1.00
R7841:Gucy1a2 UTSW 9 3,634,766 (GRCm39) missense probably benign 0.03
R7866:Gucy1a2 UTSW 9 3,532,804 (GRCm39) start codon destroyed probably null
R8525:Gucy1a2 UTSW 9 3,865,365 (GRCm39) missense probably damaging 1.00
R8802:Gucy1a2 UTSW 9 3,635,050 (GRCm39) missense probably benign 0.03
R9098:Gucy1a2 UTSW 9 3,634,489 (GRCm39) missense probably benign 0.00
R9127:Gucy1a2 UTSW 9 3,634,553 (GRCm39) missense probably damaging 1.00
Z1176:Gucy1a2 UTSW 9 3,635,156 (GRCm39) missense probably damaging 1.00
Z1177:Gucy1a2 UTSW 9 3,797,245 (GRCm39) missense probably damaging 0.97
Posted On 2014-02-04