Incidental Mutation 'R2140:Gucy1a1'
ID 236117
Institutional Source Beutler Lab
Gene Symbol Gucy1a1
Ensembl Gene ENSMUSG00000033910
Gene Name guanylate cyclase 1, soluble, alpha 1
Synonyms 1200016O07Rik, alpha 1 sGC, sGC-alpha1, Gucy1a3
MMRRC Submission 040143-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R2140 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 81999734-82053096 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 82026193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048976] [ENSMUST00000193924]
AlphaFold Q9ERL9
Predicted Effect probably null
Transcript: ENSMUST00000048976
SMART Domains Protein: ENSMUSP00000048918
Gene: ENSMUSG00000033910

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 null
Transcript: ENSMUST00000193924
SMART Domains Protein: ENSMUSP00000142138
Gene: ENSMUSG00000033910

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194788
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (96/96)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik T C 14: 4,348,902 (GRCm38) I21T probably damaging Het
Adgrf1 A C 17: 43,611,693 (GRCm39) E186D probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Afdn A G 17: 14,030,695 (GRCm39) E202G probably damaging Het
Agfg2 T A 5: 137,665,378 (GRCm39) R126W probably damaging Het
Alkbh2 C T 5: 114,263,777 (GRCm39) V77I probably benign Het
Alppl2 A G 1: 87,015,419 (GRCm39) S381P probably benign Het
Aqp2 A G 15: 99,477,247 (GRCm39) T72A probably damaging Het
Atp9b A G 18: 80,779,302 (GRCm39) C1123R probably damaging Het
AU016765 T A 17: 64,826,995 (GRCm39) noncoding transcript Het
Bscl2 T C 19: 8,822,684 (GRCm39) probably null Het
Ccdc80 A T 16: 44,947,809 (GRCm39) Y929F probably damaging Het
Cenpj T C 14: 56,764,389 (GRCm39) D1341G probably damaging Het
Cfap300 T C 9: 8,022,478 (GRCm39) D248G probably damaging Het
Cir1 A T 2: 73,142,781 (GRCm39) S18T probably damaging Het
Clcn6 A G 4: 148,108,594 (GRCm39) F145S possibly damaging Het
Cnksr1 A G 4: 133,956,939 (GRCm39) Y488H probably damaging Het
Cntrl CAGAG CAG 2: 35,012,818 (GRCm39) probably null Het
Crb1 T C 1: 139,164,750 (GRCm39) I1125V probably benign Het
Cyp3a13 A T 5: 137,919,716 (GRCm39) V20D possibly damaging Het
Dars1 T A 1: 128,299,899 (GRCm39) M362L probably benign Het
Dck T C 5: 88,920,582 (GRCm39) C101R probably damaging Het
Dnah11 T C 12: 117,972,545 (GRCm39) T2880A probably benign Het
Dnah7b T A 1: 46,307,830 (GRCm39) M3048K probably damaging Het
Eef1a2 C T 2: 180,790,535 (GRCm39) E374K probably benign Het
Eif3a A T 19: 60,763,832 (GRCm39) probably benign Het
Esco1 A G 18: 10,574,873 (GRCm39) probably null Het
Exoc8 C T 8: 125,624,154 (GRCm39) R71Q possibly damaging Het
Far1 G A 7: 113,165,667 (GRCm39) V445M possibly damaging Het
Fbn1 C A 2: 125,185,730 (GRCm39) C1648F probably damaging Het
Fmn1 A G 2: 113,425,393 (GRCm39) K1189R probably benign Het
Foxl2 C A 9: 98,838,540 (GRCm39) P276H unknown Het
Fpr3 T A 17: 18,190,879 (GRCm39) V50E probably damaging Het
Garem1 T A 18: 21,262,431 (GRCm39) R794S probably damaging Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Glyatl3 T C 17: 41,221,975 (GRCm39) D93G probably benign Het
Gm4787 A G 12: 81,425,336 (GRCm39) I274T probably benign Het
Hook1 GATGAATGA GATGA 4: 95,901,549 (GRCm39) 503 probably null Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Ints13 A G 6: 146,477,929 (GRCm39) S7P probably damaging Het
Kat5 T A 19: 5,655,713 (GRCm39) probably null Het
Kcnma1 A C 14: 23,364,288 (GRCm39) L988R probably damaging Het
Kcnq3 C A 15: 65,877,827 (GRCm39) probably benign Het
Kctd16 A G 18: 40,392,231 (GRCm39) E273G possibly damaging Het
Krt82 T A 15: 101,453,591 (GRCm39) Q265L probably damaging Het
Lama2 A T 10: 26,930,690 (GRCm39) probably null Het
Laptm4b G T 15: 34,238,478 (GRCm39) M3I probably benign Het
Lmtk2 A G 5: 144,084,433 (GRCm39) Y156C probably damaging Het
Lrrc58 G A 16: 37,701,771 (GRCm39) E350K probably damaging Het
Lrrk1 A T 7: 65,980,498 (GRCm39) D227E probably damaging Het
Macf1 C T 4: 123,248,895 (GRCm39) C7210Y probably damaging Het
Madd A G 2: 90,982,854 (GRCm39) I1363T possibly damaging Het
Mcm3 A G 1: 20,883,334 (GRCm39) V295A probably benign Het
Mki67 A G 7: 135,297,321 (GRCm39) I2571T possibly damaging Het
Mtrr C T 13: 68,717,059 (GRCm39) A385T possibly damaging Het
Myh7b A G 2: 155,462,043 (GRCm39) Y313C probably damaging Het
Myot A T 18: 44,487,192 (GRCm39) H343L possibly damaging Het
Myt1 C A 2: 181,467,772 (GRCm39) Q1069K probably damaging Het
Nid1 T A 13: 13,674,253 (GRCm39) D877E probably damaging Het
Nle1 A G 11: 82,796,394 (GRCm39) V159A probably damaging Het
Nmbr C A 10: 14,646,186 (GRCm39) Y353* probably null Het
Nos1ap T A 1: 170,156,735 (GRCm39) D241V probably damaging Het
Nostrin A C 2: 68,996,347 (GRCm39) Y209S probably damaging Het
Or14j4 T G 17: 37,921,362 (GRCm39) E93D probably benign Het
Or1e19 A T 11: 73,316,707 (GRCm39) M34K probably damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or5d40 A T 2: 88,015,439 (GRCm39) S73C probably benign Het
Or8h9 A T 2: 86,789,625 (GRCm39) M59K probably damaging Het
Or8s2 G A 15: 98,276,277 (GRCm39) T238I possibly damaging Het
Pcdh7 T A 5: 58,286,338 (GRCm39) V1138E probably damaging Het
Pglyrp3 T G 3: 91,933,874 (GRCm39) V173G probably benign Het
Plec T C 15: 76,067,374 (GRCm39) T1331A probably benign Het
Plxnb2 T C 15: 89,040,765 (GRCm39) D1787G probably benign Het
Pms1 T A 1: 53,321,147 (GRCm39) I29F probably damaging Het
Ptprt G A 2: 161,653,908 (GRCm39) T574I probably damaging Het
R3hdm1 A G 1: 128,118,430 (GRCm39) Y561C probably damaging Het
Rab17 A G 1: 90,887,800 (GRCm39) F120S probably benign Het
Rab7b T A 1: 131,626,157 (GRCm39) W62R probably damaging Het
Ryr2 C T 13: 11,575,493 (GRCm39) G4835E probably damaging Het
Ryr3 A G 2: 112,705,493 (GRCm39) V807A probably benign Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Slc23a1 C T 18: 35,759,487 (GRCm39) R26Q unknown Het
Slc7a4 C A 16: 17,392,408 (GRCm39) R342L possibly damaging Het
Slfn9 C T 11: 82,875,481 (GRCm39) C367Y possibly damaging Het
Slitrk6 T G 14: 110,988,226 (GRCm39) T494P probably benign Het
Tasor C T 14: 27,201,992 (GRCm39) T1462I probably damaging Het
Tiam1 A G 16: 89,646,533 (GRCm39) probably benign Het
Tiparp C A 3: 65,436,673 (GRCm39) probably benign Het
Tmem39b T C 4: 129,572,481 (GRCm39) T374A probably benign Het
Trim5 G A 7: 103,925,998 (GRCm39) R188* probably null Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ubr4 C T 4: 139,204,518 (GRCm39) T4810M probably damaging Het
Vmn2r26 A T 6: 124,038,196 (GRCm39) E590D probably benign Het
Wwc1 A G 11: 35,761,355 (GRCm39) F650S probably benign Het
Xrcc6 T A 15: 81,907,178 (GRCm39) F167I probably damaging Het
Zfp1005 A T 2: 150,111,281 (GRCm39) H657L probably benign 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
IGL03056:Gucy1a1 APN 3 82,020,594 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CAGAGTCTAATGATCTTTTGGAAGG -3'
(R):5'- TCCTAAGGAGCCAACAGAGG -3'

Sequencing Primer
(F):5'- GTGAAACTTTTGAAGATTGCACAC -3'
(R):5'- CCAACAGAGGAGGTGGCTG -3'
Posted On 2014-10-01