Incidental Mutation 'IGL02608:Gucy1a2'
ID 300351
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 # IGL02608
Quality Score
Status
Chromosome 9
Chromosomal Location 3532778-3894736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3635113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 386 (I386V)
Ref Sequence ENSEMBL: ENSMUSP00000111398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115733]
AlphaFold F8VQK3
Predicted Effect probably damaging
Transcript: ENSMUST00000115733
AA Change: I386V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: I386V

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,247,627 (GRCm39) M415L probably benign Het
Akap6 T C 12: 53,057,389 (GRCm39) S952P probably benign Het
Aldh3a1 A G 11: 61,107,147 (GRCm39) R284G probably damaging Het
Aldh3b1 G T 19: 3,964,061 (GRCm39) H414N probably damaging Het
Chd5 G A 4: 152,440,564 (GRCm39) M141I possibly damaging Het
Cntn2 C T 1: 132,453,654 (GRCm39) A340T possibly damaging Het
Daw1 T A 1: 83,187,055 (GRCm39) C288* probably null Het
Dcn A G 10: 97,319,319 (GRCm39) E32G probably damaging Het
Dock5 C T 14: 68,065,888 (GRCm39) V372M probably benign Het
Etf1 T C 18: 35,064,670 (GRCm39) E13G probably damaging Het
Filip1l A G 16: 57,392,469 (GRCm39) E781G probably benign Het
Gvin-ps5 T A 7: 105,928,876 (GRCm39) noncoding transcript Het
Hoxb5 T A 11: 96,195,969 (GRCm39) probably benign Het
Iqch T A 9: 63,329,110 (GRCm39) probably benign Het
Itgal C T 7: 126,909,416 (GRCm39) P423S probably damaging Het
Kti12 T G 4: 108,705,359 (GRCm39) L91R probably damaging Het
Lgals3 T C 14: 47,623,058 (GRCm39) M239T probably benign Het
Lrrc8a T C 2: 30,146,311 (GRCm39) M375T possibly damaging Het
Ly75 T C 2: 60,152,244 (GRCm39) E1103G probably benign Het
Lyst A T 13: 13,887,339 (GRCm39) E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 (GRCm39) probably benign Het
Ncor1 G A 11: 62,264,040 (GRCm39) T180I probably benign Het
Nectin4 T C 1: 171,212,341 (GRCm39) V313A probably benign Het
Nol4l A G 2: 153,278,213 (GRCm39) S8P possibly damaging Het
Npas2 T A 1: 39,384,527 (GRCm39) S607T probably benign Het
Nup155 T A 15: 8,138,955 (GRCm39) M9K probably benign Het
Nwd1 T C 8: 73,394,003 (GRCm39) L422P probably damaging Het
Or14j3 T A 17: 37,901,110 (GRCm39) I45F probably damaging Het
Papola G T 12: 105,775,818 (GRCm39) G245C probably damaging Het
Pcdhb6 T C 18: 37,467,747 (GRCm39) S223P probably damaging Het
Pdcd4 T C 19: 53,915,638 (GRCm39) probably null Het
Pigg T C 5: 108,460,869 (GRCm39) F27L probably damaging Het
Prpf40a A T 2: 53,036,165 (GRCm39) M588K probably damaging Het
Psme4 A G 11: 30,770,944 (GRCm39) N764S probably benign Het
Ptar1 A C 19: 23,683,076 (GRCm39) E110A possibly damaging Het
Rbm12 A T 2: 155,937,818 (GRCm39) probably benign Het
Rfx7 A G 9: 72,524,576 (GRCm39) T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 (GRCm38) noncoding transcript Het
Rpp38 T C 2: 3,330,198 (GRCm39) T235A probably benign Het
Sbno2 A T 10: 79,903,236 (GRCm39) probably null Het
Scn3a A T 2: 65,354,510 (GRCm39) C337* probably null Het
Sec61a2 T C 2: 5,879,073 (GRCm39) T312A probably benign Het
Snrpg C A 6: 86,353,550 (GRCm39) D43E probably damaging Het
Stag1 A T 9: 100,639,822 (GRCm39) Q126L probably null Het
Taar6 A G 10: 23,861,081 (GRCm39) V155A probably benign Het
Tet1 G A 10: 62,715,388 (GRCm39) H136Y possibly damaging Het
Tet1 C A 10: 62,674,866 (GRCm39) S1070I probably damaging Het
Tfcp2 T C 15: 100,411,991 (GRCm39) T327A possibly damaging Het
Tnfrsf13c C T 15: 82,107,364 (GRCm39) V144M probably damaging Het
Tnfrsf22 T A 7: 143,198,533 (GRCm39) K61* probably null Het
Trhr T C 15: 44,061,074 (GRCm39) V198A probably benign Het
Trp53inp2 A G 2: 155,228,569 (GRCm39) R175G probably damaging Het
Try10 G A 6: 41,332,421 (GRCm39) G26R probably damaging Het
Vmn1r205 A G 13: 22,776,370 (GRCm39) V244A probably damaging Het
Wrnip1 T A 13: 32,990,857 (GRCm39) L372H probably damaging Het
Zfp280d T A 9: 72,215,261 (GRCm39) L149Q probably damaging Het
Zfp445 A G 9: 122,690,940 (GRCm39) V85A probably damaging 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
IGL01819:Gucy1a2 APN 9 3,865,409 (GRCm39) nonsense probably null
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
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 2015-04-16