Incidental Mutation 'IGL03056:Gucy1a1'
ID 409231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy1a1
Ensembl Gene ENSMUSG00000033910
Gene Name guanylate cyclase 1, soluble, alpha 1
Synonyms 1200016O07Rik, alpha 1 sGC, sGC-alpha1, Gucy1a3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # IGL03056
Quality Score
Status
Chromosome 3
Chromosomal Location 81999734-82053096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82020594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 101 (K101R)
Ref Sequence ENSEMBL: ENSMUSP00000142138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048976] [ENSMUST00000193924]
AlphaFold Q9ERL9
Predicted Effect probably benign
Transcript: ENSMUST00000048976
AA Change: K101R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048918
Gene: ENSMUSG00000033910
AA Change: K101R

DomainStartEndE-ValueType
Pfam:HNOB 85 235 2.5e-8 PFAM
PDB:4GJ4|D 277 403 1e-18 PDB
CYCc 445 636 4.71e-103 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191942
Predicted Effect probably benign
Transcript: ENSMUST00000193924
AA Change: K101R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142138
Gene: ENSMUSG00000033910
AA Change: K101R

DomainStartEndE-ValueType
Pfam:HNOB 73 237 1.6e-7 PFAM
PDB:4GJ4|D 277 403 1e-18 PDB
CYCc 445 636 4.71e-103 SMART
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. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null mutation display mild elevation of systolic blood pressure, and abnormal blood vessel and platelet responses to NO. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,647,862 (GRCm39) H1118R probably damaging Het
Aff1 G A 5: 103,958,947 (GRCm39) V339I probably damaging Het
Ank1 G T 8: 23,631,195 (GRCm39) V107F probably damaging Het
Aox3 T C 1: 58,198,180 (GRCm39) probably null Het
Cd160 T C 3: 96,713,127 (GRCm39) T46A probably benign Het
Cimip2a T A 2: 25,111,367 (GRCm39) M232K possibly damaging Het
Col20a1 A T 2: 180,636,682 (GRCm39) Y221F probably damaging Het
Ddx18 C T 1: 121,492,264 (GRCm39) A148T probably benign Het
Dennd5b A G 6: 148,956,570 (GRCm39) M307T probably damaging Het
Fam216b G A 14: 78,320,223 (GRCm39) H86Y probably benign Het
Fh1 A T 1: 175,433,728 (GRCm39) C374S probably damaging Het
Fkbp14 A G 6: 54,556,529 (GRCm39) V207A probably benign Het
Kcnk2 G T 1: 189,027,908 (GRCm39) Q116K possibly damaging Het
Kdm5b C A 1: 134,515,717 (GRCm39) Q114K probably damaging Het
Kif12 C T 4: 63,085,193 (GRCm39) R516Q probably null Het
Lca5l C T 16: 95,962,551 (GRCm39) C463Y probably benign Het
Lgsn T A 1: 31,242,705 (GRCm39) Y262* probably null Het
Lig4 A G 8: 10,022,580 (GRCm39) I400T possibly damaging Het
Mink1 T A 11: 70,503,409 (GRCm39) probably null Het
Mprip T A 11: 59,662,518 (GRCm39) I2243N probably damaging Het
Myo1f A T 17: 33,804,574 (GRCm39) Y426F probably damaging Het
Naip2 T A 13: 100,298,795 (GRCm39) S414C possibly damaging Het
Nrg1 T C 8: 32,311,451 (GRCm39) I363V possibly damaging Het
Or4f54 A T 2: 111,123,517 (GRCm39) R301S possibly damaging Het
Or52r1b A T 7: 102,690,958 (GRCm39) I86L possibly damaging Het
Serpinb9d T C 13: 33,386,736 (GRCm39) V268A probably damaging Het
Slc15a1 A G 14: 121,728,695 (GRCm39) F17L possibly damaging Het
Slc9a3 T A 13: 74,298,938 (GRCm39) V119E probably damaging Het
Sspo T A 6: 48,447,472 (GRCm39) M2346K probably benign Het
Tcf4 G T 18: 69,784,283 (GRCm39) probably benign Het
Trabd2b T C 4: 114,266,535 (GRCm39) V183A probably damaging Het
Ust T C 10: 8,083,326 (GRCm39) H350R probably benign Het
Zfp952 T A 17: 33,221,740 (GRCm39) V35E probably damaging Het
Other mutations in Gucy1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Gucy1a1 APN 3 82,018,498 (GRCm39) missense probably benign 0.00
IGL01626:Gucy1a1 APN 3 82,015,926 (GRCm39) missense probably damaging 1.00
IGL01662:Gucy1a1 APN 3 82,016,560 (GRCm39) missense possibly damaging 0.63
IGL02480:Gucy1a1 APN 3 82,005,040 (GRCm39) missense probably damaging 1.00
IGL02902:Gucy1a1 APN 3 82,026,224 (GRCm39) missense possibly damaging 0.87
IGL03022:Gucy1a1 APN 3 82,016,404 (GRCm39) missense probably benign 0.30
IGL03089:Gucy1a1 APN 3 82,004,988 (GRCm39) missense probably damaging 1.00
IGL03226:Gucy1a1 APN 3 82,026,331 (GRCm39) missense probably benign 0.00
IGL03377:Gucy1a1 APN 3 82,013,322 (GRCm39) missense probably damaging 1.00
R0245:Gucy1a1 UTSW 3 82,016,094 (GRCm39) missense possibly damaging 0.67
R0762:Gucy1a1 UTSW 3 82,002,203 (GRCm39) missense unknown
R0907:Gucy1a1 UTSW 3 82,018,498 (GRCm39) missense probably benign 0.00
R1242:Gucy1a1 UTSW 3 82,013,260 (GRCm39) splice site probably null
R1625:Gucy1a1 UTSW 3 82,009,362 (GRCm39) missense probably benign 0.02
R1671:Gucy1a1 UTSW 3 82,013,529 (GRCm39) missense probably damaging 1.00
R2056:Gucy1a1 UTSW 3 82,016,592 (GRCm39) missense possibly damaging 0.89
R2094:Gucy1a1 UTSW 3 82,020,639 (GRCm39) missense probably benign
R2140:Gucy1a1 UTSW 3 82,026,193 (GRCm39) splice site probably null
R2154:Gucy1a1 UTSW 3 82,018,458 (GRCm39) critical splice donor site probably null
R3418:Gucy1a1 UTSW 3 82,013,440 (GRCm39) missense probably damaging 1.00
R3419:Gucy1a1 UTSW 3 82,013,440 (GRCm39) missense probably damaging 1.00
R4290:Gucy1a1 UTSW 3 82,002,066 (GRCm39) missense possibly damaging 0.95
R4291:Gucy1a1 UTSW 3 82,002,066 (GRCm39) missense possibly damaging 0.95
R4292:Gucy1a1 UTSW 3 82,002,066 (GRCm39) missense possibly damaging 0.95
R4294:Gucy1a1 UTSW 3 82,002,066 (GRCm39) missense possibly damaging 0.95
R4573:Gucy1a1 UTSW 3 82,016,229 (GRCm39) missense possibly damaging 0.95
R4629:Gucy1a1 UTSW 3 82,004,931 (GRCm39) missense probably damaging 1.00
R4755:Gucy1a1 UTSW 3 82,002,102 (GRCm39) missense probably benign 0.40
R4865:Gucy1a1 UTSW 3 82,026,469 (GRCm39) utr 5 prime probably benign
R5528:Gucy1a1 UTSW 3 82,016,380 (GRCm39) missense probably damaging 1.00
R5933:Gucy1a1 UTSW 3 82,002,114 (GRCm39) missense probably damaging 0.96
R6278:Gucy1a1 UTSW 3 82,004,941 (GRCm39) missense probably damaging 1.00
R6385:Gucy1a1 UTSW 3 82,016,313 (GRCm39) missense probably benign
R7011:Gucy1a1 UTSW 3 82,016,422 (GRCm39) missense probably damaging 1.00
R7361:Gucy1a1 UTSW 3 82,005,027 (GRCm39) missense probably damaging 1.00
R7648:Gucy1a1 UTSW 3 82,016,014 (GRCm39) missense possibly damaging 0.63
R7709:Gucy1a1 UTSW 3 82,002,096 (GRCm39) missense unknown
R7770:Gucy1a1 UTSW 3 82,016,112 (GRCm39) missense possibly damaging 0.95
R8443:Gucy1a1 UTSW 3 82,005,000 (GRCm39) missense probably damaging 1.00
R8531:Gucy1a1 UTSW 3 82,018,468 (GRCm39) missense probably benign
R8872:Gucy1a1 UTSW 3 82,016,049 (GRCm39) missense probably damaging 0.99
R9055:Gucy1a1 UTSW 3 82,016,433 (GRCm39) missense possibly damaging 0.73
R9168:Gucy1a1 UTSW 3 82,009,353 (GRCm39) missense probably damaging 0.97
R9231:Gucy1a1 UTSW 3 82,013,308 (GRCm39) missense probably damaging 1.00
R9316:Gucy1a1 UTSW 3 82,016,250 (GRCm39) missense possibly damaging 0.50
Posted On 2016-08-02