Incidental Mutation 'R6753:Gucy1b1'
ID 530878
Institutional Source Beutler Lab
Gene Symbol Gucy1b1
Ensembl Gene ENSMUSG00000028005
Gene Name guanylate cyclase 1, soluble, beta 1
Synonyms beta 1 sGC
MMRRC Submission 044870-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R6753 (G1)
Quality Score 154.008
Status Validated
Chromosome 3
Chromosomal Location 82032006-82074689 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82039747 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 385 (D385G)
Ref Sequence ENSEMBL: ENSMUSP00000142119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029635] [ENSMUST00000193597]
AlphaFold O54865
Predicted Effect probably null
Transcript: ENSMUST00000029635
AA Change: D385G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005
AA Change: D385G

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 noncoding transcript
Transcript: ENSMUST00000192508
Predicted Effect probably null
Transcript: ENSMUST00000193597
AA Change: D385G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005
AA Change: D385G

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
Meta Mutation Damage Score 0.0946 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (68/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G A 11: 120,010,151 (GRCm38) P1083S probably benign Het
Abcb5 T A 12: 118,944,906 (GRCm38) N101I possibly damaging Het
Adrb2 A G 18: 62,179,553 (GRCm38) V67A possibly damaging Het
Agk T A 6: 40,368,570 (GRCm38) probably null Het
Akap10 A T 11: 61,886,777 (GRCm38) M586K probably damaging Het
Akt3 A T 1: 177,050,190 (GRCm38) Y337* probably null Het
Armc1 A G 3: 19,144,398 (GRCm38) F133L possibly damaging Het
Bank1 T C 3: 136,093,308 (GRCm38) E424G probably damaging Het
Cacna1a A G 8: 84,580,205 (GRCm38) E1363G probably damaging Het
Cacna1d C A 14: 30,042,786 (GRCm38) A2076S probably damaging Het
Ccdc73 T A 2: 104,991,524 (GRCm38) L606* probably null Het
Ccdc8 C T 7: 16,996,637 (GRCm38) Q684* probably null Het
Ces1b T A 8: 93,067,020 (GRCm38) K314* probably null Het
Ces1e T A 8: 93,215,128 (GRCm38) N238I probably damaging Het
Chd4 A G 6: 125,114,300 (GRCm38) N1238S probably benign Het
Cmtr2 T A 8: 110,222,979 (GRCm38) D640E probably damaging Het
Col7a1 C T 9: 108,958,128 (GRCm38) T559I unknown Het
Comt T C 16: 18,408,021 (GRCm38) K205R probably benign Het
Dbp A T 7: 45,708,404 (GRCm38) E232V probably damaging Het
Dcbld2 A G 16: 58,456,130 (GRCm38) T470A possibly damaging Het
Eml6 T A 11: 29,754,987 (GRCm38) D1519V probably damaging Het
Evpl T A 11: 116,237,906 (GRCm38) H31L possibly damaging Het
Exoc1 T A 5: 76,563,339 (GRCm38) I86N probably damaging Het
Fat3 C T 9: 15,915,061 (GRCm38) E4532K possibly damaging Het
Fgfr3 T C 5: 33,732,159 (GRCm38) S301P probably benign Het
Gas2l1 C T 11: 5,064,254 (GRCm38) V69I probably damaging Het
Gm2042 T A 12: 87,958,084 (GRCm38) I107K probably damaging Het
Ints1 T A 5: 139,765,175 (GRCm38) E824D probably damaging Het
Itfg1 T C 8: 85,835,078 (GRCm38) D142G probably benign Het
Jaml A G 9: 45,107,379 (GRCm38) N359D probably benign Het
Kcnh7 T A 2: 62,850,377 (GRCm38) I289L probably benign Het
Klf12 G A 14: 100,109,776 (GRCm38) Q40* probably null Het
Mcm4 A C 16: 15,629,362 (GRCm38) N579K possibly damaging Het
Mfsd2b A T 12: 4,867,358 (GRCm38) F179I possibly damaging Het
Mmp11 C T 10: 75,928,374 (GRCm38) V86M probably damaging Het
Mogs T C 6: 83,115,882 (GRCm38) V101A probably damaging Het
Narf T A 11: 121,242,626 (GRCm38) H84Q probably benign Het
Olfr987 C A 2: 85,331,798 (GRCm38) M33I probably benign Het
Otog A C 7: 46,249,071 (GRCm38) E204D probably benign Het
Parp8 G A 13: 116,895,115 (GRCm38) H354Y possibly damaging Het
Pcnx C A 12: 81,964,480 (GRCm38) D1238E probably damaging Het
Pi4ka A G 16: 17,376,982 (GRCm38) L184P possibly damaging Het
Pkd1l3 C T 8: 109,624,449 (GRCm38) T642I probably damaging Het
Pkhd1l1 G A 15: 44,589,663 (GRCm38) E3995K probably benign Het
Prdm9 A T 17: 15,544,956 (GRCm38) Y521N probably benign Het
Prex2 A G 1: 11,184,456 (GRCm38) S1105G probably damaging Het
Prss35 T A 9: 86,756,100 (GRCm38) F308I probably damaging Het
Rab22a C T 2: 173,701,055 (GRCm38) A167V probably benign Het
Rims2 A G 15: 39,566,973 (GRCm38) Q871R possibly damaging Het
Rorb A T 19: 18,957,247 (GRCm38) M253K probably benign Het
Ryr3 T C 2: 112,652,610 (GRCm38) D4269G probably damaging Het
Snx11 T C 11: 96,769,906 (GRCm38) probably benign Het
Son A G 16: 91,657,188 (GRCm38) Q941R probably damaging Het
Sptbn2 G T 19: 4,747,785 (GRCm38) R1880L probably benign Het
Sun1 G A 5: 139,215,259 (GRCm38) probably null Het
Tprn A G 2: 25,264,038 (GRCm38) R451G probably benign Het
Trbv30 T A 6: 41,281,377 (GRCm38) M1K probably null Het
Ttn C A 2: 76,738,221 (GRCm38) G25697W probably damaging Het
Ubb T G 11: 62,551,527 (GRCm38) probably null Het
Unc13b C T 4: 43,239,331 (GRCm38) R1038C probably damaging Het
Usp7 T C 16: 8,696,911 (GRCm38) M687V probably benign Het
Zfp160 G A 17: 21,020,734 (GRCm38) M21I probably benign Het
Zfp868 T C 8: 69,612,096 (GRCm38) N196S probably benign Het
Zufsp A T 10: 33,928,029 (GRCm38) I483N probably damaging Het
Other mutations in Gucy1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Gucy1b1 APN 3 82,034,862 (GRCm38) missense probably damaging 1.00
IGL01602:Gucy1b1 APN 3 82,035,353 (GRCm38) missense probably benign 0.17
IGL01603:Gucy1b1 APN 3 82,034,868 (GRCm38) missense probably damaging 0.98
IGL01605:Gucy1b1 APN 3 82,035,353 (GRCm38) missense probably benign 0.17
IGL01685:Gucy1b1 APN 3 82,035,285 (GRCm38) missense probably benign 0.27
IGL01844:Gucy1b1 APN 3 82,046,526 (GRCm38) missense possibly damaging 0.95
IGL02566:Gucy1b1 APN 3 82,058,329 (GRCm38) missense probably damaging 1.00
R0014:Gucy1b1 UTSW 3 82,039,861 (GRCm38) missense probably damaging 1.00
R0068:Gucy1b1 UTSW 3 82,034,878 (GRCm38) missense probably benign 0.34
R0115:Gucy1b1 UTSW 3 82,034,391 (GRCm38) missense probably benign
R0126:Gucy1b1 UTSW 3 82,037,911 (GRCm38) splice site probably benign
R0277:Gucy1b1 UTSW 3 82,038,156 (GRCm38) critical splice acceptor site probably null
R0323:Gucy1b1 UTSW 3 82,038,156 (GRCm38) critical splice acceptor site probably null
R0633:Gucy1b1 UTSW 3 82,045,460 (GRCm38) missense probably benign 0.02
R0691:Gucy1b1 UTSW 3 82,045,634 (GRCm38) splice site probably benign
R0811:Gucy1b1 UTSW 3 82,037,988 (GRCm38) missense probably benign 0.04
R0812:Gucy1b1 UTSW 3 82,037,988 (GRCm38) missense probably benign 0.04
R1670:Gucy1b1 UTSW 3 82,045,460 (GRCm38) missense probably benign 0.10
R1687:Gucy1b1 UTSW 3 82,038,042 (GRCm38) missense probably damaging 1.00
R1856:Gucy1b1 UTSW 3 82,058,352 (GRCm38) missense probably benign 0.00
R1950:Gucy1b1 UTSW 3 82,045,409 (GRCm38) missense probably benign 0.43
R1995:Gucy1b1 UTSW 3 82,034,853 (GRCm38) missense probably damaging 1.00
R2156:Gucy1b1 UTSW 3 82,061,020 (GRCm38) missense probably benign
R2441:Gucy1b1 UTSW 3 82,045,454 (GRCm38) missense probably damaging 0.98
R5014:Gucy1b1 UTSW 3 82,046,667 (GRCm38) missense probably benign 0.43
R5397:Gucy1b1 UTSW 3 82,044,151 (GRCm38) missense possibly damaging 0.92
R5494:Gucy1b1 UTSW 3 82,039,876 (GRCm38) missense probably damaging 1.00
R6003:Gucy1b1 UTSW 3 82,058,277 (GRCm38) missense probably damaging 1.00
R6088:Gucy1b1 UTSW 3 82,034,880 (GRCm38) missense probably damaging 1.00
R6216:Gucy1b1 UTSW 3 82,046,713 (GRCm38) splice site probably null
R6331:Gucy1b1 UTSW 3 82,034,411 (GRCm38) missense possibly damaging 0.75
R6671:Gucy1b1 UTSW 3 82,034,408 (GRCm38) missense probably benign
R7150:Gucy1b1 UTSW 3 82,043,162 (GRCm38) missense probably damaging 1.00
R7228:Gucy1b1 UTSW 3 82,033,274 (GRCm38) missense unknown
R7461:Gucy1b1 UTSW 3 82,039,747 (GRCm38) missense possibly damaging 0.74
R7501:Gucy1b1 UTSW 3 82,035,359 (GRCm38) missense probably damaging 1.00
R7613:Gucy1b1 UTSW 3 82,039,747 (GRCm38) missense possibly damaging 0.74
R7791:Gucy1b1 UTSW 3 82,035,397 (GRCm38) nonsense probably null
R8560:Gucy1b1 UTSW 3 82,035,378 (GRCm38) missense probably damaging 0.98
R9312:Gucy1b1 UTSW 3 82,034,816 (GRCm38) missense probably damaging 1.00
R9553:Gucy1b1 UTSW 3 82,039,780 (GRCm38) missense probably damaging 1.00
R9559:Gucy1b1 UTSW 3 82,039,747 (GRCm38) missense possibly damaging 0.74
R9762:Gucy1b1 UTSW 3 82,034,758 (GRCm38) missense possibly damaging 0.76
Z1177:Gucy1b1 UTSW 3 82,061,112 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAAGATAAGGGTTCCACTGC -3'
(R):5'- GATGAACCTGGACGACCTAAC -3'

Sequencing Primer
(F):5'- CACTGCAGATTTGTGGAACC -3'
(R):5'- CCTAACAAGAAGAGGCCTGTATCTG -3'
Posted On 2018-08-01