Incidental Mutation 'IGL00235:Gucy1b2'
ID 2144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy1b2
Ensembl Gene ENSMUSG00000021933
Gene Name guanylate cyclase 1, soluble, beta 2
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.447) question?
Stock # IGL00235
Quality Score
Status
Chromosome 14
Chromosomal Location 62630125-62693738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 62643694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 636 (V636F)
Ref Sequence ENSEMBL: ENSMUSP00000128114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022501] [ENSMUST00000165651]
AlphaFold Q8BXH3
Predicted Effect probably damaging
Transcript: ENSMUST00000022501
AA Change: V651F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: V651F

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 damaging
Transcript: ENSMUST00000165651
AA Change: V636F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933
AA Change: V636F

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
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 G A 16: 35,073,583 (GRCm39) E454K possibly damaging Het
Agl T C 3: 116,565,132 (GRCm39) H1039R probably benign Het
Akap3 T C 6: 126,842,694 (GRCm39) F438L probably benign Het
Casp1 A T 9: 5,299,872 (GRCm39) probably benign Het
Cnih2 G T 19: 5,148,301 (GRCm39) probably benign Het
Dchs1 G A 7: 105,407,950 (GRCm39) R1961C probably damaging Het
Defb21 G A 2: 152,416,712 (GRCm39) V63I probably benign Het
Elovl6 T A 3: 129,422,025 (GRCm39) N105K probably benign Het
Fam83e A T 7: 45,376,493 (GRCm39) E402V probably benign Het
Fat4 T A 3: 39,036,398 (GRCm39) I3350N probably damaging Het
Gmpr2 C A 14: 55,913,171 (GRCm39) F149L probably damaging Het
Hapln1 A C 13: 89,756,261 (GRCm39) Y355S probably benign Het
Hoxb13 G T 11: 96,085,468 (GRCm39) C67F possibly damaging Het
Hspa12b T A 2: 130,976,040 (GRCm39) I14N probably damaging Het
Ighe C A 12: 113,235,135 (GRCm39) V342L unknown Het
Ighv1-49 A T 12: 115,019,076 (GRCm39) S21T possibly damaging Het
Klhl17 A G 4: 156,318,319 (GRCm39) I101T possibly damaging Het
Lrrd1 T G 5: 3,900,573 (GRCm39) L293V possibly damaging Het
Lyrm4 T A 13: 36,276,865 (GRCm39) K44M probably damaging Het
Med15 G T 16: 17,498,590 (GRCm39) P101T probably damaging Het
Mgat4c A T 10: 102,224,581 (GRCm39) H265L probably damaging Het
Mme T A 3: 63,247,465 (GRCm39) I250N possibly damaging Het
Mxra8 C A 4: 155,927,020 (GRCm39) T318N probably benign Het
Nlrp9b G A 7: 19,757,203 (GRCm39) V147I probably benign Het
Npepl1 G T 2: 173,962,341 (GRCm39) V336L probably damaging Het
Or1e23 G A 11: 73,407,236 (GRCm39) S263L possibly damaging Het
Pank2 T C 2: 131,116,089 (GRCm39) I169T possibly damaging Het
Pgap6 T C 17: 26,336,493 (GRCm39) S204P probably damaging Het
Pkhd1l1 A T 15: 44,419,415 (GRCm39) H2960L probably damaging Het
Pnpla8 A G 12: 44,329,852 (GRCm39) R135G probably benign Het
Prdm8 T G 5: 98,331,202 (GRCm39) V18G probably damaging Het
Rhox7b G T X: 36,978,539 (GRCm39) P231T probably damaging Het
Rnf121 A T 7: 101,714,322 (GRCm39) probably benign Het
Skap1 T C 11: 96,380,736 (GRCm39) F45S probably damaging Het
Slc4a5 T A 6: 83,262,881 (GRCm39) L791Q probably damaging Het
Ssh1 T C 5: 114,080,637 (GRCm39) D931G probably damaging Het
Txndc16 T C 14: 45,399,807 (GRCm39) Y382C probably damaging Het
Uhrf2 T C 19: 30,051,346 (GRCm39) F307L probably benign Het
Zfhx2 C A 14: 55,300,714 (GRCm39) A2346S probably benign Het
Other mutations in Gucy1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2011-12-09