Incidental Mutation 'IGL02971:Guca2b'
ID365818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Guca2b
Ensembl Gene ENSMUSG00000032978
Gene Nameguanylate cyclase activator 2b (retina)
Synonymsuroguanylin, Gcap2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL02971
Quality Score
Status
Chromosome4
Chromosomal Location119656607-119658954 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119657688 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 59 (S59P)
Ref Sequence ENSEMBL: ENSMUSP00000101916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044426] [ENSMUST00000106309]
Predicted Effect probably damaging
Transcript: ENSMUST00000044426
AA Change: S35P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043203
Gene: ENSMUSG00000032978
AA Change: S35P

DomainStartEndE-ValueType
Pfam:Guanylin 20 106 9e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106309
AA Change: S59P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101916
Gene: ENSMUSG00000032978
AA Change: S59P

DomainStartEndE-ValueType
Pfam:Guanylin 47 130 2.4e-33 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the guanylin family and preproprotein that is proteolytically processed to generate a mature protein product. The mature protein product, known as uroguanylin, is an endogenous ligand for the guanylate cyclase-C receptor and may regulate salt and water homeostasis in the intestine and kidneys. Homozygous knockout mice for this gene exhibit impaired sodium chloride excretion and elevated arterial pressure. This gene is present in a gene cluster with a related guanylin family member on chromosome 4. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit elevated blood pressure, increased sodium levels, and reduced sodium, potassium, and fluid excretion following salt loading. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 104,123,219 T130I probably benign Het
Ahi1 T C 10: 21,000,551 L787P possibly damaging Het
Atf3 A G 1: 191,177,443 S10P probably benign Het
Cdr2l A G 11: 115,390,900 N77S probably damaging Het
Cnp A G 11: 100,576,699 D156G probably benign Het
Cntn3 A T 6: 102,168,933 D982E probably damaging Het
Col22a1 A G 15: 72,006,738 L190S probably damaging Het
Csmd3 C T 15: 47,913,929 probably benign Het
Dnah5 A G 15: 28,384,461 D3117G probably damaging Het
Dock5 T C 14: 67,757,109 E1834G probably null Het
Eea1 A G 10: 96,041,527 T1368A probably benign Het
Fam83f T C 15: 80,672,149 V78A probably benign Het
Fcgbp G A 7: 28,101,473 V1315I probably damaging Het
Fsd2 A T 7: 81,548,923 Y364* probably null Het
Gm21976 G A 13: 98,302,549 G16R probably null Het
Hars2 A G 18: 36,786,178 E123G probably damaging Het
Hdac2 A T 10: 37,000,374 K462* probably null Het
Huwe1 T A X: 151,927,626 probably benign Het
Iqgap3 T A 3: 88,090,304 N262K probably benign Het
Kat6b A G 14: 21,669,758 S1502G probably damaging Het
Mapkapk3 A T 9: 107,257,080 D328E probably benign Het
Mgea5 A G 19: 45,762,243 F671S probably damaging Het
Naca C T 10: 128,041,568 probably benign Het
Npffr1 T C 10: 61,614,139 V64A probably damaging Het
Olfr331 A G 11: 58,502,385 L57P probably damaging Het
Olfr918 T A 9: 38,673,268 M72L probably damaging Het
Pcca A G 14: 122,889,533 D718G probably damaging Het
Pde6a A C 18: 61,264,255 D670A probably damaging Het
Pramel7 T A 2: 87,490,073 E292V probably benign Het
Prmt9 A C 8: 77,565,069 M357L probably benign Het
Ptgfr A T 3: 151,835,326 S182T probably benign Het
Rtraf A T 14: 19,816,192 M152K possibly damaging Het
Satb1 T C 17: 51,742,689 D579G possibly damaging Het
Serpinb6a A G 13: 33,931,470 probably null Het
Slc5a9 T C 4: 111,890,300 I297V possibly damaging Het
Slf1 T A 13: 77,047,104 probably benign Het
St8sia2 C T 7: 73,966,811 V139M probably damaging Het
Tas2r114 T C 6: 131,689,280 M262V probably benign Het
Tmem147 A G 7: 30,729,422 probably benign Het
Tmem220 A G 11: 67,034,107 probably null Het
Uspl1 A G 5: 149,188,346 N35S possibly damaging Het
Vmn1r170 A T 7: 23,606,334 I54F possibly damaging Het
Vmn2r121 T G X: 124,127,894 I810L probably damaging Het
Wbp2nl A T 15: 82,305,744 T46S possibly damaging Het
Zfp955b T A 17: 33,300,966 M57K probably benign Het
Other mutations in Guca2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1635:Guca2b UTSW 4 119657715 missense probably damaging 0.96
R2133:Guca2b UTSW 4 119657631 missense probably benign 0.02
R4696:Guca2b UTSW 4 119656799 missense probably damaging 1.00
R6291:Guca2b UTSW 4 119657693 missense probably damaging 1.00
R7156:Guca2b UTSW 4 119657690 missense probably damaging 1.00
R8329:Guca2b UTSW 4 119658804 missense unknown
RF011:Guca2b UTSW 4 119656847 missense possibly damaging 0.93
Posted On2015-12-18