Incidental Mutation 'R8560:Gucy1b1'
ID 660970
Institutional Source Beutler Lab
Gene Symbol Gucy1b1
Ensembl Gene ENSMUSG00000028005
Gene Name guanylate cyclase 1, soluble, beta 1
Synonyms beta 1 sGC, Gucy1b3
MMRRC Submission 068523-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.540) question?
Stock # R8560 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 81939313-81981996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 81942685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 486 (P486T)
Ref Sequence ENSEMBL: ENSMUSP00000029635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029635] [ENSMUST00000193597]
AlphaFold O54865
Predicted Effect probably damaging
Transcript: ENSMUST00000029635
AA Change: P486T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005
AA Change: P486T

DomainStartEndE-ValueType
Pfam:HNOB 2 166 3.4e-58 PFAM
low complexity region 182 189 N/A INTRINSIC
PDB:4GJ4|D 212 343 9e-16 PDB
CYCc 385 586 3.53e-93 SMART
low complexity region 608 620 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000193597
AA Change: P486T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005
AA Change: P486T

DomainStartEndE-ValueType
Pfam:HNOB 1 172 1.5e-67 PFAM
low complexity region 182 189 N/A INTRINSIC
PDB:4GJ4|D 212 343 9e-16 PDB
CYCc 385 582 1.71e-91 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous null mice that bypass neonatal lethality die prematurely due to severe gastrointestinal obstruction and exhibit hypertension, reduced heart rate, lack of glycerol trinitrate-induced drop in systolic pressure, and lack of a nitric oxide effect on aortic relaxation and platelet aggregation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,958,374 (GRCm39) V819A unknown Het
Ahi1 T C 10: 20,835,814 (GRCm39) V49A probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Ccdc87 C T 19: 4,891,901 (GRCm39) R798W probably damaging Het
Cd163 T C 6: 124,294,360 (GRCm39) L506S possibly damaging Het
Chsy3 T C 18: 59,543,130 (GRCm39) V756A possibly damaging Het
Cisd3 G T 11: 97,576,689 (GRCm39) W5L possibly damaging Het
Coro1c A T 5: 113,984,249 (GRCm39) H339Q probably damaging Het
Cybc1 G T 11: 121,115,041 (GRCm39) A154D probably damaging Het
D630045J12Rik T A 6: 38,126,649 (GRCm39) I1454F probably damaging Het
Dab2ip T C 2: 35,603,144 (GRCm39) S448P probably damaging Het
Dennd5a A G 7: 109,533,898 (GRCm39) probably null Het
Depdc1a A G 3: 159,219,912 (GRCm39) K139E probably damaging Het
Dock6 T C 9: 21,714,132 (GRCm39) K1874R probably benign Het
Dst A G 1: 34,307,970 (GRCm39) H4229R probably damaging Het
Esyt3 T C 9: 99,202,375 (GRCm39) D512G probably damaging Het
Fastkd5 T A 2: 130,457,865 (GRCm39) I242L probably benign Het
Foxo3 G A 10: 42,151,278 (GRCm39) T51M possibly damaging Het
Gcfc2 T C 6: 81,900,863 (GRCm39) V59A possibly damaging Het
Gm14410 C A 2: 176,885,445 (GRCm39) C273F probably damaging Het
Hydin A G 8: 111,265,106 (GRCm39) N2763S probably benign Het
Ifna2 C A 4: 88,601,502 (GRCm39) W172L possibly damaging Het
Igkv6-29 T C 6: 70,115,651 (GRCm39) N48D probably benign Het
Il17ra C A 6: 120,459,226 (GRCm39) D792E possibly damaging Het
Kcnh5 G T 12: 75,023,379 (GRCm39) A563E probably damaging Het
Klra4 C A 6: 130,042,235 (GRCm39) V11L probably benign Het
Krt13 T C 11: 100,009,676 (GRCm39) E368G possibly damaging Het
Lrpprc T A 17: 85,047,495 (GRCm39) probably benign Het
Mal2 T C 15: 54,461,826 (GRCm39) I107T probably benign Het
Mc4r T C 18: 66,992,166 (GRCm39) I316V possibly damaging Het
Mdn1 T A 4: 32,743,830 (GRCm39) V4022E probably benign Het
Med12l A G 3: 58,945,026 (GRCm39) N84D probably damaging Het
Mx1 T G 16: 97,253,987 (GRCm39) T298P probably damaging Het
Myh7 T C 14: 55,213,405 (GRCm39) E1367G possibly damaging Het
Myh7b A G 2: 155,465,124 (GRCm39) E660G possibly damaging Het
Nbeal1 T A 1: 60,274,316 (GRCm39) N242K probably benign Het
Nsun5 A G 5: 135,404,743 (GRCm39) T435A probably benign Het
Or14j4 C T 17: 37,920,949 (GRCm39) S231N possibly damaging Het
Or4q3 T A 14: 50,583,794 (GRCm39) D4V probably benign Het
Or5b109 T C 19: 13,211,656 (GRCm39) L14P possibly damaging Het
Pcdhb17 C T 18: 37,619,206 (GRCm39) T332M possibly damaging Het
Pi4k2a C T 19: 42,089,151 (GRCm39) Q171* probably null Het
Plb1 T C 5: 32,460,023 (GRCm39) V421A possibly damaging Het
Prkag2 TTTTTTTTTTTTA T 5: 25,071,063 (GRCm39) probably benign Het
Prlhr A G 19: 60,456,635 (GRCm39) probably benign Het
Prpf8 T A 11: 75,382,600 (GRCm39) C435* probably null Het
Rnf183 T A 4: 62,346,735 (GRCm39) N21I probably damaging Het
Rnf41 T A 10: 128,274,222 (GRCm39) C291* probably null Het
Shd T C 17: 56,278,616 (GRCm39) S60P probably benign Het
Slc16a5 A G 11: 115,360,545 (GRCm39) T243A probably benign Het
Slc33a1 A T 3: 63,850,773 (GRCm39) I517N possibly damaging Het
Slc4a1 A C 11: 102,244,083 (GRCm39) M682R possibly damaging Het
Sphk2 A T 7: 45,361,514 (GRCm39) N245K probably damaging Het
Stx7 T C 10: 24,057,454 (GRCm39) I160T possibly damaging Het
Thbs4 T C 13: 92,891,608 (GRCm39) I836V probably damaging Het
Tmc5 A T 7: 118,268,514 (GRCm39) N861Y probably damaging Het
Trappc5 T A 8: 3,729,303 (GRCm39) W94R probably damaging Het
Trmt44 T C 5: 35,715,295 (GRCm39) I673V probably benign Het
Ttn T C 2: 76,571,615 (GRCm39) Y26426C probably damaging Het
Wdr81 C T 11: 75,336,260 (GRCm39) G591R Het
Zfp236 G A 18: 82,664,340 (GRCm39) R482W probably damaging Het
Zfp51 T A 17: 21,685,635 (GRCm39) M750K probably benign Het
Other mutations in Gucy1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Gucy1b1 APN 3 81,942,169 (GRCm39) missense probably damaging 1.00
IGL01602:Gucy1b1 APN 3 81,942,660 (GRCm39) missense probably benign 0.17
IGL01603:Gucy1b1 APN 3 81,942,175 (GRCm39) missense probably damaging 0.98
IGL01605:Gucy1b1 APN 3 81,942,660 (GRCm39) missense probably benign 0.17
IGL01685:Gucy1b1 APN 3 81,942,592 (GRCm39) missense probably benign 0.27
IGL01844:Gucy1b1 APN 3 81,953,833 (GRCm39) missense possibly damaging 0.95
IGL02566:Gucy1b1 APN 3 81,965,636 (GRCm39) missense probably damaging 1.00
R0014:Gucy1b1 UTSW 3 81,947,168 (GRCm39) missense probably damaging 1.00
R0068:Gucy1b1 UTSW 3 81,942,185 (GRCm39) missense probably benign 0.34
R0115:Gucy1b1 UTSW 3 81,941,698 (GRCm39) missense probably benign
R0126:Gucy1b1 UTSW 3 81,945,218 (GRCm39) splice site probably benign
R0277:Gucy1b1 UTSW 3 81,945,463 (GRCm39) critical splice acceptor site probably null
R0323:Gucy1b1 UTSW 3 81,945,463 (GRCm39) critical splice acceptor site probably null
R0633:Gucy1b1 UTSW 3 81,952,767 (GRCm39) missense probably benign 0.02
R0691:Gucy1b1 UTSW 3 81,952,941 (GRCm39) splice site probably benign
R0811:Gucy1b1 UTSW 3 81,945,295 (GRCm39) missense probably benign 0.04
R0812:Gucy1b1 UTSW 3 81,945,295 (GRCm39) missense probably benign 0.04
R1670:Gucy1b1 UTSW 3 81,952,767 (GRCm39) missense probably benign 0.10
R1687:Gucy1b1 UTSW 3 81,945,349 (GRCm39) missense probably damaging 1.00
R1856:Gucy1b1 UTSW 3 81,965,659 (GRCm39) missense probably benign 0.00
R1950:Gucy1b1 UTSW 3 81,952,716 (GRCm39) missense probably benign 0.43
R1995:Gucy1b1 UTSW 3 81,942,160 (GRCm39) missense probably damaging 1.00
R2156:Gucy1b1 UTSW 3 81,968,327 (GRCm39) missense probably benign
R2441:Gucy1b1 UTSW 3 81,952,761 (GRCm39) missense probably damaging 0.98
R5014:Gucy1b1 UTSW 3 81,953,974 (GRCm39) missense probably benign 0.43
R5397:Gucy1b1 UTSW 3 81,951,458 (GRCm39) missense possibly damaging 0.92
R5494:Gucy1b1 UTSW 3 81,947,183 (GRCm39) missense probably damaging 1.00
R6003:Gucy1b1 UTSW 3 81,965,584 (GRCm39) missense probably damaging 1.00
R6088:Gucy1b1 UTSW 3 81,942,187 (GRCm39) missense probably damaging 1.00
R6216:Gucy1b1 UTSW 3 81,954,020 (GRCm39) splice site probably null
R6331:Gucy1b1 UTSW 3 81,941,718 (GRCm39) missense possibly damaging 0.75
R6671:Gucy1b1 UTSW 3 81,941,715 (GRCm39) missense probably benign
R6753:Gucy1b1 UTSW 3 81,947,054 (GRCm39) missense probably null 0.03
R7150:Gucy1b1 UTSW 3 81,950,469 (GRCm39) missense probably damaging 1.00
R7228:Gucy1b1 UTSW 3 81,940,581 (GRCm39) missense unknown
R7461:Gucy1b1 UTSW 3 81,947,054 (GRCm39) missense possibly damaging 0.74
R7501:Gucy1b1 UTSW 3 81,942,666 (GRCm39) missense probably damaging 1.00
R7613:Gucy1b1 UTSW 3 81,947,054 (GRCm39) missense possibly damaging 0.74
R7791:Gucy1b1 UTSW 3 81,942,704 (GRCm39) nonsense probably null
R9312:Gucy1b1 UTSW 3 81,942,123 (GRCm39) missense probably damaging 1.00
R9553:Gucy1b1 UTSW 3 81,947,087 (GRCm39) missense probably damaging 1.00
R9559:Gucy1b1 UTSW 3 81,947,054 (GRCm39) missense possibly damaging 0.74
R9762:Gucy1b1 UTSW 3 81,942,065 (GRCm39) missense possibly damaging 0.76
Z1177:Gucy1b1 UTSW 3 81,968,419 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAATCAATCGGCTCTTTG -3'
(R):5'- GATTCCAACCTGCTAGAGCTCAC -3'

Sequencing Primer
(F):5'- CAATCGGCTCTTTGTGTTCAAAATGC -3'
(R):5'- TGCTAGAGCTCACAATGCTAAAG -3'
Posted On 2021-03-08