Incidental Mutation 'IGL02719:Gucy1a2'
ID 304932
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
Is this an essential gene? Possibly non essential (E-score: 0.284) question?
Stock # IGL02719
Quality Score
Status
Chromosome 9
Chromosomal Location 3532778-3894736 bp(+) (GRCm38)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to A at 3894719 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115733]
AlphaFold F8VQK3
Predicted Effect probably benign
Transcript: ENSMUST00000115733
SMART Domains Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,582,150 D160G probably damaging Het
Aak1 A G 6: 86,959,170 probably benign Het
Anp32e A G 3: 95,937,912 probably benign Het
Aspscr1 T A 11: 120,677,579 L61Q probably damaging Het
Btrc A G 19: 45,503,150 I89M probably damaging Het
Ccdc175 G A 12: 72,175,125 T141M probably damaging Het
Cep70 G A 9: 99,275,722 V225I probably damaging Het
Col4a1 T C 8: 11,231,950 probably benign Het
Cpne1 T C 2: 156,078,217 Y214C probably damaging Het
Crtc3 T C 7: 80,618,658 probably null Het
Cul2 C T 18: 3,434,052 A683V probably damaging Het
Ddx47 A G 6: 135,017,151 N131D probably benign Het
Dnah7b T G 1: 46,099,608 probably benign Het
Dnaic2 T C 11: 114,751,911 L446P probably damaging Het
Ergic2 T C 6: 148,204,819 T58A possibly damaging Het
Erlin2 A G 8: 27,029,675 probably benign Het
Fermt2 T C 14: 45,504,656 T78A probably damaging Het
Flg2 G T 3: 93,220,131 G97* probably null Het
Gm7356 A G 17: 14,001,275 I164T probably damaging Het
Heatr5b C T 17: 78,815,540 R670H probably damaging Het
Hspa4l T C 3: 40,772,658 V476A possibly damaging Het
Ick A G 9: 78,140,019 E67G probably damaging Het
Itpkc A T 7: 27,228,050 D146E possibly damaging Het
Kcnk3 T C 5: 30,621,980 F125L probably damaging Het
Kif12 T A 4: 63,167,796 M411L probably benign Het
Krtap24-1 T C 16: 88,612,206 S11G probably benign Het
Lilra6 A T 7: 3,912,992 H289Q possibly damaging Het
Musk A C 4: 58,356,496 N469H probably benign Het
Myom1 A G 17: 71,106,354 probably benign Het
Nagpa A G 16: 5,201,493 V46A possibly damaging Het
Olfr1281 T A 2: 111,329,245 Y275* probably null Het
Olfr146 T C 9: 39,019,016 N175S probably benign Het
Olfr193 T A 16: 59,110,173 T146S probably benign Het
Parp6 T A 9: 59,630,738 V222E probably benign Het
Pde3b T A 7: 114,506,248 S472T probably damaging Het
Peak1 A G 9: 56,227,206 S1314P probably damaging Het
Pgc A G 17: 47,728,867 Y62C probably damaging Het
Pitpnm2 A G 5: 124,140,602 C189R probably damaging Het
Pla2g15 G T 8: 106,160,196 Q106H probably benign Het
Pla2g4c T A 7: 13,330,094 S93T probably damaging Het
Rbks G T 5: 31,651,801 probably benign Het
Retsat A G 6: 72,603,659 T207A possibly damaging Het
Slc25a32 A G 15: 39,099,905 Y174H probably benign Het
Slc35f2 T A 9: 53,809,742 probably benign Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sos2 A G 12: 69,617,184 Y476H probably benign Het
Ssh2 A T 11: 77,425,587 N296I probably damaging Het
Sspo G T 6: 48,482,667 R3320L probably benign Het
Synj2 A G 17: 5,996,917 I166V probably benign Het
Tpp2 T C 1: 43,940,231 V96A probably benign Het
Vmn2r3 A T 3: 64,275,610 W223R probably damaging Het
Wdr17 T C 8: 54,693,054 probably null Het
Zfr2 T A 10: 81,244,712 C407S probably damaging 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
IGL02823:Gucy1a2 APN 9 3894656 missense possibly damaging 0.79
IGL02852:Gucy1a2 APN 9 3759691 missense probably benign 0.31
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
R9098:Gucy1a2 UTSW 9 3634489 missense probably benign 0.00
R9127:Gucy1a2 UTSW 9 3634553 missense probably damaging 1.00
Z1176:Gucy1a2 UTSW 9 3635156 missense probably damaging 1.00
Z1177:Gucy1a2 UTSW 9 3797245 missense probably damaging 0.97
Posted On 2015-04-16