Incidental Mutation 'R5779:Gucy1b2'
ID 446894
Institutional Source Beutler Lab
Gene Symbol Gucy1b2
Ensembl Gene ENSMUSG00000021933
Gene Name guanylate cyclase 1, soluble, beta 2
Synonyms
MMRRC Submission 043377-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.447) question?
Stock # R5779 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 62630125-62693738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 62651750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 400 (L400F)
Ref Sequence ENSEMBL: ENSMUSP00000128114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022501] [ENSMUST00000128573] [ENSMUST00000165651]
AlphaFold Q8BXH3
Predicted Effect possibly damaging
Transcript: ENSMUST00000022501
AA Change: L415F

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: L415F

DomainStartEndE-ValueType
Pfam:HNOB 83 244 6e-60 PFAM
Blast:CYCc 263 362 3e-24 BLAST
PDB:4GJ4|D 350 471 4e-8 PDB
CYCc 513 712 1.11e-108 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128573
SMART Domains Protein: ENSMUSP00000120329
Gene: ENSMUSG00000021933

DomainStartEndE-ValueType
Pfam:HNOB 1 167 1.5e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165651
AA Change: L400F

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933
AA Change: L400F

DomainStartEndE-ValueType
Pfam:HNOB 82 250 1.1e-53 PFAM
Blast:CYCc 263 347 6e-25 BLAST
PDB:4GJ4|D 335 456 5e-8 PDB
CYCc 498 697 1.11e-108 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 88% (52/59)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal hyperventilation response to a 10% oxygen environment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,075,496 (GRCm39) M1332V probably benign Het
Acsbg3 A T 17: 57,188,061 (GRCm39) N190Y probably benign Het
Afg3l2 T C 18: 67,573,513 (GRCm39) K132R probably null Het
Antkmt A G 17: 26,009,631 (GRCm39) V194A probably benign Het
Arap3 T C 18: 38,117,418 (GRCm39) D886G probably damaging Het
B3gntl1 G T 11: 121,542,502 (GRCm39) probably null Het
Cdk12 T A 11: 98,109,900 (GRCm39) S640R probably benign Het
Ceacam12 C A 7: 17,803,079 (GRCm39) P162T probably benign Het
Chrna5 C A 9: 54,905,388 (GRCm39) H67N probably benign Het
Copb1 T A 7: 113,818,807 (GRCm39) D837V probably damaging Het
Dcaf5 C T 12: 80,385,606 (GRCm39) R840H probably benign Het
Ect2l T A 10: 18,039,186 (GRCm39) Q324L probably benign Het
Eef1e1 T C 13: 38,830,249 (GRCm39) N141S probably damaging Het
Eif2ak4 A C 2: 118,243,444 (GRCm39) N208T possibly damaging Het
Ext1 A G 15: 53,207,949 (GRCm39) Y271H probably damaging Het
Fbxo5 G A 10: 5,750,303 (GRCm39) R323C possibly damaging Het
Fpr-rs3 C A 17: 20,844,488 (GRCm39) A218S possibly damaging Het
Gm20499 G A 5: 114,955,082 (GRCm39) probably benign Het
Gm57859 A G 11: 113,578,818 (GRCm39) D71G probably benign Het
Hgd T A 16: 37,413,733 (GRCm39) L24H probably benign Het
Hmx3 C A 7: 131,146,057 (GRCm39) S255* probably null Het
Ifrd1 A T 12: 40,253,369 (GRCm39) F448I probably damaging Het
Igfn1 T A 1: 135,894,578 (GRCm39) E1996V probably benign Het
Itpr1 G A 6: 108,329,104 (GRCm39) G173R probably damaging Het
Kbtbd8 T C 6: 95,095,515 (GRCm39) S26P probably benign Het
Kctd17 A T 15: 78,321,333 (GRCm39) probably benign Het
Matr3 T C 18: 35,717,575 (GRCm39) S258P possibly damaging Het
Mpp4 G A 1: 59,190,825 (GRCm39) A90V probably benign Het
Mrpl20 G A 4: 155,891,378 (GRCm39) R34Q probably damaging Het
Neb A T 2: 52,135,313 (GRCm39) S3266T probably damaging Het
Nipal3 A G 4: 135,179,650 (GRCm39) probably benign Het
Npas2 A T 1: 39,326,652 (GRCm39) T46S possibly damaging Het
Nsd3 G T 8: 26,172,685 (GRCm39) E815* probably null Het
Nup98 C A 7: 101,801,568 (GRCm39) V786L probably benign Het
Or4k2 A T 14: 50,424,203 (GRCm39) M157K possibly damaging Het
Pcdhb3 T C 18: 37,434,520 (GRCm39) V162A probably benign Het
Pcgf2 G A 11: 97,581,117 (GRCm39) P58L probably damaging Het
Penk A G 4: 4,134,318 (GRCm39) F110L probably damaging Het
Relch T G 1: 105,615,072 (GRCm39) N246K probably damaging Het
Scfd1 A G 12: 51,478,312 (GRCm39) N508S probably benign Het
Scn2a T C 2: 65,594,827 (GRCm39) V1892A probably benign Het
Sema6a G A 18: 47,381,893 (GRCm39) R885C probably damaging Het
Sik2 T C 9: 50,807,145 (GRCm39) H755R probably benign Het
Slc36a3 A T 11: 55,026,094 (GRCm39) Y241* probably null Het
Smg5 T C 3: 88,258,925 (GRCm39) probably benign Het
Spag9 A G 11: 94,005,079 (GRCm39) T1049A probably benign Het
Tas2r103 T C 6: 133,013,908 (GRCm39) M53V probably benign Het
Tpr C T 1: 150,299,292 (GRCm39) A1090V probably damaging Het
Traf5 T A 1: 191,729,633 (GRCm39) R473W probably damaging Het
Ush2a T C 1: 188,175,707 (GRCm39) probably null Het
Vit A G 17: 78,853,855 (GRCm39) T34A probably benign Het
Other mutations in Gucy1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Gucy1b2 APN 14 62,643,694 (GRCm39) missense probably damaging 1.00
IGL00465:Gucy1b2 APN 14 62,640,649 (GRCm39) missense probably benign
IGL00756:Gucy1b2 APN 14 62,640,658 (GRCm39) missense probably benign
IGL01800:Gucy1b2 APN 14 62,649,104 (GRCm39) missense probably benign 0.03
IGL01875:Gucy1b2 APN 14 62,657,595 (GRCm39) missense probably damaging 1.00
IGL03033:Gucy1b2 APN 14 62,653,393 (GRCm39) missense probably benign 0.00
IGL03110:Gucy1b2 APN 14 62,671,283 (GRCm39) splice site probably benign
IGL02796:Gucy1b2 UTSW 14 62,645,143 (GRCm39) missense probably benign 0.42
R0183:Gucy1b2 UTSW 14 62,656,589 (GRCm39) missense probably damaging 1.00
R0605:Gucy1b2 UTSW 14 62,640,608 (GRCm39) splice site probably benign
R0815:Gucy1b2 UTSW 14 62,656,511 (GRCm39) missense probably benign 0.00
R0863:Gucy1b2 UTSW 14 62,656,511 (GRCm39) missense probably benign 0.00
R0972:Gucy1b2 UTSW 14 62,651,818 (GRCm39) missense possibly damaging 0.61
R0972:Gucy1b2 UTSW 14 62,646,127 (GRCm39) missense possibly damaging 0.88
R1438:Gucy1b2 UTSW 14 62,651,770 (GRCm39) missense probably damaging 0.98
R2011:Gucy1b2 UTSW 14 62,646,207 (GRCm39) missense probably damaging 0.99
R2409:Gucy1b2 UTSW 14 62,643,628 (GRCm39) frame shift probably null
R3692:Gucy1b2 UTSW 14 62,642,076 (GRCm39) missense probably damaging 1.00
R4484:Gucy1b2 UTSW 14 62,649,038 (GRCm39) missense possibly damaging 0.88
R4715:Gucy1b2 UTSW 14 62,660,466 (GRCm39) missense possibly damaging 0.95
R4730:Gucy1b2 UTSW 14 62,645,208 (GRCm39) missense probably damaging 1.00
R4812:Gucy1b2 UTSW 14 62,653,346 (GRCm39) splice site probably null
R4839:Gucy1b2 UTSW 14 62,685,695 (GRCm39) missense probably damaging 1.00
R5261:Gucy1b2 UTSW 14 62,642,028 (GRCm39) missense probably damaging 1.00
R5326:Gucy1b2 UTSW 14 62,690,779 (GRCm39) critical splice donor site probably null
R5656:Gucy1b2 UTSW 14 62,660,430 (GRCm39) missense probably damaging 1.00
R6000:Gucy1b2 UTSW 14 62,656,499 (GRCm39) missense probably benign 0.00
R6274:Gucy1b2 UTSW 14 62,653,388 (GRCm39) missense probably damaging 1.00
R7457:Gucy1b2 UTSW 14 62,630,401 (GRCm39) missense probably benign 0.08
R7487:Gucy1b2 UTSW 14 62,685,672 (GRCm39) missense probably damaging 0.97
R7607:Gucy1b2 UTSW 14 62,656,626 (GRCm39) missense probably damaging 1.00
R8030:Gucy1b2 UTSW 14 62,630,319 (GRCm39) missense probably benign
R8285:Gucy1b2 UTSW 14 62,657,556 (GRCm39) missense probably damaging 0.98
R8287:Gucy1b2 UTSW 14 62,649,265 (GRCm39) missense probably damaging 1.00
R8970:Gucy1b2 UTSW 14 62,656,664 (GRCm39) missense possibly damaging 0.95
RF030:Gucy1b2 UTSW 14 62,646,090 (GRCm39) critical splice donor site probably benign
RF035:Gucy1b2 UTSW 14 62,646,090 (GRCm39) critical splice donor site probably benign
Z1177:Gucy1b2 UTSW 14 62,690,902 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCGGGCCAAGTATAAATATCAGGG -3'
(R):5'- GAAGTCGCTTCTTGTTCTCCAG -3'

Sequencing Primer
(F):5'- AAGCCCCACTTGTTCTCA -3'
(R):5'- AGACTGACACGTGTCCTCTGTG -3'
Posted On 2016-12-15