Incidental Mutation 'IGL00465:Gucy1b2'
ID332125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy1b2
Ensembl Gene ENSMUSG00000021933
Gene Nameguanylate cyclase 1, soluble, beta 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.226) question?
Stock #IGL00465
Quality Score
Status
Chromosome14
Chromosomal Location62392676-62456289 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 62403200 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Proline at position 752 (Q752P)
Ref Sequence ENSEMBL: ENSMUSP00000128114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022501] [ENSMUST00000165651]
Predicted Effect probably benign
Transcript: ENSMUST00000022501
AA Change: Q767P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: Q767P

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 benign
Transcript: ENSMUST00000165651
AA Change: Q752P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933
AA Change: Q752P

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A G 7: 140,294,842 Y411C probably damaging Het
A1bg A T 15: 60,921,253 S2T probably damaging Het
Adamts13 T A 2: 26,973,555 W7R probably benign Het
Anks6 T A 4: 47,046,054 D279V probably damaging Het
C4bp A T 1: 130,639,134 L335Q probably damaging Het
Cd109 A T 9: 78,660,934 K299* probably null Het
Cd200r2 A T 16: 44,909,288 H102L probably damaging Het
Col12a1 A G 9: 79,697,581 Y662H probably damaging Het
Cyp2c37 T C 19: 40,001,997 F380L probably benign Het
Deup1 A G 9: 15,561,370 S549P probably damaging Het
Dysf G T 6: 84,199,848 probably null Het
Etaa1 A T 11: 17,947,825 C166* probably null Het
Fam227b T C 2: 126,144,325 probably null Het
Hal T C 10: 93,490,069 probably null Het
Hao1 C A 2: 134,554,270 K21N probably damaging Het
Itga4 T C 2: 79,292,050 F536L probably benign Het
Lmod3 A T 6: 97,247,861 I333N probably damaging Het
Mgme1 T A 2: 144,279,516 D297E probably damaging Het
Myh2 G T 11: 67,178,833 probably benign Het
Myo7a A G 7: 98,102,626 M70T probably damaging Het
Nav3 T C 10: 109,852,746 T557A probably damaging Het
Nif3l1 C A 1: 58,455,686 H271Q possibly damaging Het
Nostrin A G 2: 69,185,554 probably benign Het
Nxn C A 11: 76,274,655 probably benign Het
Pcdhb22 A T 18: 37,520,132 D551V probably damaging Het
Pde4d A G 13: 109,936,687 D339G possibly damaging Het
Pkp4 T A 2: 59,338,755 S408T probably damaging Het
Pxmp2 T C 5: 110,283,716 T54A probably benign Het
Rif1 T A 2: 52,121,007 V2362E probably damaging Het
Rps6kl1 A G 12: 85,139,429 S276P probably benign Het
Scaf4 C A 16: 90,247,281 M601I unknown Het
Setd7 T A 3: 51,550,308 T33S probably benign Het
Shroom1 T A 11: 53,464,094 D280E probably benign Het
Slc35f2 G T 9: 53,798,014 probably null Het
Slitrk3 T A 3: 73,051,103 N112I probably damaging Het
Spag1 A G 15: 36,183,821 probably benign Het
Stx6 C T 1: 155,201,933 probably benign Het
Sun1 A T 5: 139,234,685 probably null Het
Tbl1xr1 G A 3: 22,192,268 probably null Het
Tmc2 T C 2: 130,261,304 S787P possibly damaging Het
Traf3ip3 C T 1: 193,194,820 probably benign Het
Trip12 T G 1: 84,763,861 H559P probably damaging Het
Trpm1 G T 7: 64,247,467 M272I possibly damaging Het
Ttc21b T C 2: 66,242,775 E189G probably benign Het
Tubd1 T C 11: 86,555,068 probably benign Het
Vps13a T A 19: 16,752,175 T167S probably damaging Het
Zbtb3 A G 19: 8,803,665 D214G possibly damaging Het
Zfp658 A G 7: 43,567,356 D50G probably benign Het
Zfp976 T A 7: 42,613,685 I243L unknown Het
Other mutations in Gucy1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Gucy1b2 APN 14 62406245 missense probably damaging 1.00
IGL00756:Gucy1b2 APN 14 62403209 missense probably benign
IGL01800:Gucy1b2 APN 14 62411655 missense probably benign 0.03
IGL01875:Gucy1b2 APN 14 62420146 missense probably damaging 1.00
IGL03033:Gucy1b2 APN 14 62415944 missense probably benign 0.00
IGL03110:Gucy1b2 APN 14 62433834 splice site probably benign
IGL02796:Gucy1b2 UTSW 14 62407694 missense probably benign 0.42
R0183:Gucy1b2 UTSW 14 62419140 missense probably damaging 1.00
R0605:Gucy1b2 UTSW 14 62403159 splice site probably benign
R0815:Gucy1b2 UTSW 14 62419062 missense probably benign 0.00
R0863:Gucy1b2 UTSW 14 62419062 missense probably benign 0.00
R0972:Gucy1b2 UTSW 14 62408678 missense possibly damaging 0.88
R0972:Gucy1b2 UTSW 14 62414369 missense possibly damaging 0.61
R1438:Gucy1b2 UTSW 14 62414321 missense probably damaging 0.98
R2011:Gucy1b2 UTSW 14 62408758 missense probably damaging 0.99
R2409:Gucy1b2 UTSW 14 62406179 frame shift probably null
R3692:Gucy1b2 UTSW 14 62404627 missense probably damaging 1.00
R4484:Gucy1b2 UTSW 14 62411589 missense possibly damaging 0.88
R4715:Gucy1b2 UTSW 14 62423017 missense possibly damaging 0.95
R4730:Gucy1b2 UTSW 14 62407759 missense probably damaging 1.00
R4812:Gucy1b2 UTSW 14 62415897 splice site probably null
R4839:Gucy1b2 UTSW 14 62448246 missense probably damaging 1.00
R5261:Gucy1b2 UTSW 14 62404579 missense probably damaging 1.00
R5326:Gucy1b2 UTSW 14 62453330 critical splice donor site probably null
R5656:Gucy1b2 UTSW 14 62422981 missense probably damaging 1.00
R5779:Gucy1b2 UTSW 14 62414301 missense possibly damaging 0.82
R6000:Gucy1b2 UTSW 14 62419050 missense probably benign 0.00
R6274:Gucy1b2 UTSW 14 62415939 missense probably damaging 1.00
R7457:Gucy1b2 UTSW 14 62392952 missense probably benign 0.08
R7487:Gucy1b2 UTSW 14 62448223 missense probably damaging 0.97
R7607:Gucy1b2 UTSW 14 62419177 missense probably damaging 1.00
R8030:Gucy1b2 UTSW 14 62392870 missense probably benign
RF030:Gucy1b2 UTSW 14 62408641 critical splice donor site probably benign
RF035:Gucy1b2 UTSW 14 62408641 critical splice donor site probably benign
Z1177:Gucy1b2 UTSW 14 62453453 missense unknown
Posted On2015-08-05