Incidental Mutation 'R2409:Gucy1b2'
ID 248143
Institutional Source Beutler Lab
Gene Symbol Gucy1b2
Ensembl Gene ENSMUSG00000021933
Gene Name guanylate cyclase 1, soluble, beta 2
Synonyms
MMRRC Submission 040375-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.447) question?
Stock # R2409 (G1)
Quality Score 162
Status Validated
Chromosome 14
Chromosomal Location 62630125-62693738 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CCGTGTTT to C at 62643628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022501] [ENSMUST00000165651]
AlphaFold Q8BXH3
Predicted Effect probably null
Transcript: ENSMUST00000022501
SMART Domains Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933

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 probably null
Transcript: ENSMUST00000165651
SMART Domains Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 100% (32/32)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,788,747 (GRCm39) T1042I probably benign Het
Adamts13 A G 2: 26,868,374 (GRCm39) T162A probably benign Het
Adamts7 T A 9: 90,062,740 (GRCm39) I398N probably damaging Het
Cib2 A G 9: 54,452,751 (GRCm39) probably null Het
Cyp3a16 T C 5: 145,377,177 (GRCm39) K470R probably benign Het
Dpy19l2 A G 9: 24,569,924 (GRCm39) M343T probably benign Het
Dyrk2 A G 10: 118,696,532 (GRCm39) V242A probably benign Het
Extl3 T C 14: 65,315,017 (GRCm39) D55G probably benign Het
Fabp7 A G 10: 57,661,772 (GRCm39) K82E possibly damaging Het
Fat1 G T 8: 45,493,567 (GRCm39) probably benign Het
Gen1 A G 12: 11,299,165 (GRCm39) I280T possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Il3ra G A 14: 14,349,377 (GRCm38) probably null Het
Myo1f A G 17: 33,795,641 (GRCm39) N66D probably damaging Het
Nfkb1 C T 3: 135,319,704 (GRCm39) E264K possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or7d10 G T 9: 19,832,072 (GRCm39) R189L probably benign Het
Or7d10 G C 9: 19,832,077 (GRCm39) D191H probably damaging Het
Prdm10 A G 9: 31,260,418 (GRCm39) H624R possibly damaging Het
Rgs5 G T 1: 169,504,451 (GRCm39) V34F possibly damaging Het
Sec14l4 T C 11: 3,990,048 (GRCm39) S116P probably benign Het
Septin1 T C 7: 126,815,143 (GRCm39) probably null Het
Septin9 T A 11: 117,251,287 (GRCm39) I535N probably damaging Het
Sh2b1 C T 7: 126,070,651 (GRCm39) G350D probably damaging Het
Slc6a21 T C 7: 44,929,750 (GRCm39) V107A probably benign Het
Trim26 C A 17: 37,161,895 (GRCm39) H105N probably damaging Het
Trim71 A T 9: 114,342,781 (GRCm39) D500E possibly damaging Het
Vmn2r78 T A 7: 86,569,953 (GRCm39) probably benign Het
Vmn2r84 A G 10: 130,227,940 (GRCm39) S99P probably damaging 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
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
R5779:Gucy1b2 UTSW 14 62,651,750 (GRCm39) missense possibly damaging 0.82
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'- ATATTTCCTGCAGCCCCAGAG -3'
(R):5'- GCACTTGTCACAGAGCTAACC -3'

Sequencing Primer
(F):5'- CTGCAGCCCCAGAGAAGAAG -3'
(R):5'- GCTAACCGCTTTAATAGGCG -3'
Posted On 2014-11-11