Incidental Mutation 'R6278:Gucy1a1'
ID 507764
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 044448-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R6278 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 81999734-82053096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82004941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 615 (K615E)
Ref Sequence ENSEMBL: ENSMUSP00000142138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048976] [ENSMUST00000193924]
AlphaFold Q9ERL9
Predicted Effect probably damaging
Transcript: ENSMUST00000048976
AA Change: K615E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048918
Gene: ENSMUSG00000033910
AA Change: K615E

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 probably benign
Transcript: ENSMUST00000192289
Predicted Effect probably damaging
Transcript: ENSMUST00000193924
AA Change: K615E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142138
Gene: ENSMUSG00000033910
AA Change: K615E

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
Meta Mutation Damage Score 0.5106 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency 100% (49/49)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T C 7: 119,373,072 (GRCm39) S192P probably damaging Het
Amy1 T A 3: 113,355,339 (GRCm39) Y348F probably damaging Het
Brpf3 C A 17: 29,040,258 (GRCm39) P893H probably benign Het
Cage1 T C 13: 38,200,395 (GRCm39) T702A possibly damaging Het
Cdk11b A G 4: 155,734,060 (GRCm39) probably benign Het
Cdk5rap3 T C 11: 96,802,729 (GRCm39) Y207C probably damaging Het
Cenpc1 T C 5: 86,183,394 (GRCm39) K465R probably damaging Het
Cldn14 A C 16: 93,716,486 (GRCm39) L120R possibly damaging Het
Cyp2c69 A T 19: 39,831,507 (GRCm39) C435* probably null Het
Dmxl2 T A 9: 54,323,046 (GRCm39) E1446V probably damaging Het
Dnah17 T A 11: 118,017,116 (GRCm39) D208V probably damaging Het
Eif4g3 G T 4: 137,915,394 (GRCm39) G1430V possibly damaging Het
Eif5 T A 12: 111,509,227 (GRCm39) D284E probably benign Het
Fam47e T C 5: 92,710,376 (GRCm39) L125P probably damaging Het
Far1 A G 7: 113,167,344 (GRCm39) I476M probably benign Het
Fsip2 A T 2: 82,819,242 (GRCm39) I4992L probably benign Het
Gli3 T A 13: 15,899,698 (GRCm39) N1028K possibly damaging Het
Gykl1 G T 18: 52,828,280 (GRCm39) S496I probably benign Het
Hmcn1 C T 1: 150,573,170 (GRCm39) probably null Het
Itga2 T A 13: 114,982,424 (GRCm39) H1027L probably benign Het
Kif24 A T 4: 41,423,498 (GRCm39) V251E probably damaging Het
Nupr1 T C 7: 126,224,518 (GRCm39) Y30C probably damaging Het
Or5b119 T A 19: 13,457,119 (GRCm39) M148L probably benign Het
Or5g29 A G 2: 85,421,342 (GRCm39) I153V probably benign Het
Or5w14 A T 2: 87,541,815 (GRCm39) L145* probably null Het
Or8g26 T A 9: 39,095,594 (GRCm39) I40N probably damaging Het
P2ry1 T A 3: 60,911,215 (GRCm39) I118N possibly damaging Het
Pcdh1 C T 18: 38,332,263 (GRCm39) V247M probably benign Het
Pdia5 A G 16: 35,250,293 (GRCm39) V222A possibly damaging Het
Plce1 G A 19: 38,713,495 (GRCm39) probably null Het
Ppm1m T C 9: 106,074,427 (GRCm39) R239G probably damaging Het
Pramel30 C T 4: 144,056,837 (GRCm39) P7S probably damaging Het
Prkcz A T 4: 155,352,652 (GRCm39) F492I probably damaging Het
Rpl6 T C 5: 121,346,912 (GRCm39) I269T possibly damaging Het
Scoc T C 8: 84,184,965 (GRCm39) S2G unknown Het
Spesp1 A T 9: 62,179,921 (GRCm39) M329K probably benign Het
Ston2 T C 12: 91,615,104 (GRCm39) K435E probably damaging Het
Synj2 A T 17: 6,026,149 (GRCm39) L69F probably damaging Het
Tigd5 T C 15: 75,781,842 (GRCm39) I68T probably damaging Het
Tmcc2 A T 1: 132,286,720 (GRCm39) M577K probably damaging Het
Tmem131l A T 3: 83,849,798 (GRCm39) I263N possibly damaging Het
Trip13 T C 13: 74,061,439 (GRCm39) E408G probably benign Het
Txnl4b T C 8: 110,295,735 (GRCm39) probably null Het
Ube2o T C 11: 116,430,369 (GRCm39) E1123G probably damaging Het
Vmn1r123 A G 7: 20,896,774 (GRCm39) H222R possibly damaging Het
Vmn2r73 G T 7: 85,522,140 (GRCm39) H66Q probably benign Het
Zc3h13 T A 14: 75,567,863 (GRCm39) V1052D 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
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
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'- ATTGTCTCCCAAGGACAGTG -3'
(R):5'- ACACTCAAGGAAAACTGTCAGG -3'

Sequencing Primer
(F):5'- TGTCTCCCAAGGACAGTGAAAGC -3'
(R):5'- CAGGTGAGAGGTGACTTTGCAG -3'
Posted On 2018-03-15