Incidental Mutation 'IGL02971:Guca2b'
ID 365818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Guca2b
Ensembl Gene ENSMUSG00000032978
Gene Name guanylate cyclase activator 2b (retina)
Synonyms Gcap2, uroguanylin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL02971
Quality Score
Status
Chromosome 4
Chromosomal Location 119513798-119516142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119514885 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O09051
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: 103,953,564 (GRCm39) T130I probably benign Het
Ahi1 T C 10: 20,876,450 (GRCm39) L787P possibly damaging Het
Atf3 A G 1: 190,909,640 (GRCm39) S10P probably benign Het
Cdr2l A G 11: 115,281,726 (GRCm39) N77S probably damaging Het
Cnp A G 11: 100,467,525 (GRCm39) D156G probably benign Het
Cntn3 A T 6: 102,145,894 (GRCm39) D982E probably damaging Het
Col22a1 A G 15: 71,878,587 (GRCm39) L190S probably damaging Het
Csmd3 C T 15: 47,777,325 (GRCm39) probably benign Het
Dnah5 A G 15: 28,384,607 (GRCm39) D3117G probably damaging Het
Dock5 T C 14: 67,994,558 (GRCm39) E1834G probably null Het
Eea1 A G 10: 95,877,389 (GRCm39) T1368A probably benign Het
Fam83f T C 15: 80,556,350 (GRCm39) V78A probably benign Het
Fcgbp G A 7: 27,800,898 (GRCm39) V1315I probably damaging Het
Fsd2 A T 7: 81,198,671 (GRCm39) Y364* probably null Het
Gm21976 G A 13: 98,439,057 (GRCm39) G16R probably null Het
Hars2 A G 18: 36,919,231 (GRCm39) E123G probably damaging Het
Hdac2 A T 10: 36,876,370 (GRCm39) K462* probably null Het
Huwe1 T A X: 150,710,622 (GRCm39) probably benign Het
Iqgap3 T A 3: 87,997,611 (GRCm39) N262K probably benign Het
Kat6b A G 14: 21,719,826 (GRCm39) S1502G probably damaging Het
Mapkapk3 A T 9: 107,134,279 (GRCm39) D328E probably benign Het
Naca C T 10: 127,877,437 (GRCm39) probably benign Het
Npffr1 T C 10: 61,449,918 (GRCm39) V64A probably damaging Het
Oga A G 19: 45,750,682 (GRCm39) F671S probably damaging Het
Or2t49 A G 11: 58,393,211 (GRCm39) L57P probably damaging Het
Or8b3b T A 9: 38,584,564 (GRCm39) M72L probably damaging Het
Pcca A G 14: 123,126,945 (GRCm39) D718G probably damaging Het
Pde6a A C 18: 61,397,326 (GRCm39) D670A probably damaging Het
Pramel7 T A 2: 87,320,417 (GRCm39) E292V probably benign Het
Prmt9 A C 8: 78,291,698 (GRCm39) M357L probably benign Het
Ptgfr A T 3: 151,540,963 (GRCm39) S182T probably benign Het
Rtraf A T 14: 19,866,260 (GRCm39) M152K possibly damaging Het
Satb1 T C 17: 52,049,717 (GRCm39) D579G possibly damaging Het
Serpinb6a A G 13: 34,115,453 (GRCm39) probably null Het
Slc5a9 T C 4: 111,747,497 (GRCm39) I297V possibly damaging Het
Slf1 T A 13: 77,195,223 (GRCm39) probably benign Het
St8sia2 C T 7: 73,616,559 (GRCm39) V139M probably damaging Het
Tas2r114 T C 6: 131,666,243 (GRCm39) M262V probably benign Het
Tmem147 A G 7: 30,428,847 (GRCm39) probably benign Het
Tmem220 A G 11: 66,924,933 (GRCm39) probably null Het
Uspl1 A G 5: 149,125,156 (GRCm39) N35S possibly damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging Het
Vmn2r121 T G X: 123,037,591 (GRCm39) I810L probably damaging Het
Wbp2nl A T 15: 82,189,945 (GRCm39) T46S possibly damaging Het
Zfp955b T A 17: 33,519,940 (GRCm39) M57K probably benign Het
Other mutations in Guca2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1635:Guca2b UTSW 4 119,514,912 (GRCm39) missense probably damaging 0.96
R2133:Guca2b UTSW 4 119,514,828 (GRCm39) missense probably benign 0.02
R4696:Guca2b UTSW 4 119,513,996 (GRCm39) missense probably damaging 1.00
R6291:Guca2b UTSW 4 119,514,890 (GRCm39) missense probably damaging 1.00
R7156:Guca2b UTSW 4 119,514,887 (GRCm39) missense probably damaging 1.00
R8329:Guca2b UTSW 4 119,516,001 (GRCm39) missense unknown
R9469:Guca2b UTSW 4 119,515,817 (GRCm39) nonsense probably null
RF011:Guca2b UTSW 4 119,514,044 (GRCm39) missense possibly damaging 0.93
Posted On 2015-12-18