Incidental Mutation 'R9469:Guca2b'
ID 715339
Institutional Source Beutler Lab
Gene Symbol Guca2b
Ensembl Gene ENSMUSG00000032978
Gene Name guanylate cyclase activator 2b (retina)
Synonyms Gcap2, uroguanylin
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R9469 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 119513798-119516142 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 119515817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 15 (Q15*)
Ref Sequence ENSEMBL: ENSMUSP00000101916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044426] [ENSMUST00000106309]
AlphaFold O09051
Predicted Effect probably benign
Transcript: ENSMUST00000044426
SMART Domains Protein: ENSMUSP00000043203
Gene: ENSMUSG00000032978

DomainStartEndE-ValueType
Pfam:Guanylin 20 106 9e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106309
AA Change: Q15*
SMART Domains Protein: ENSMUSP00000101916
Gene: ENSMUSG00000032978
AA Change: Q15*

DomainStartEndE-ValueType
Pfam:Guanylin 47 130 2.4e-33 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A T 17: 57,183,283 (GRCm39) D8V probably benign Het
Ada T A 2: 163,574,192 (GRCm39) M155L probably benign Het
Adam23 A G 1: 63,584,671 (GRCm39) I360V probably benign Het
Ahnak G A 19: 8,988,225 (GRCm39) G3170R probably damaging Het
Alb G A 5: 90,610,659 (GRCm39) D80N probably benign Het
Amph G T 13: 19,270,769 (GRCm39) G126V probably damaging Het
Anks1b A T 10: 90,733,205 (GRCm39) M994L possibly damaging Het
Atp8a2 A G 14: 60,028,668 (GRCm39) L933P probably benign Het
Bcas1 T C 2: 170,191,292 (GRCm39) D546G possibly damaging Het
Bmpr2 A C 1: 59,881,928 (GRCm39) M186L probably benign Het
Clca3a2 T C 3: 144,507,938 (GRCm39) I711V probably damaging Het
Cobll1 G A 2: 64,966,774 (GRCm39) T128I probably damaging Het
Cog4 T C 8: 111,608,804 (GRCm39) W165R unknown Het
Cyp2j5 G A 4: 96,517,731 (GRCm39) R494* probably null Het
Dnah2 G A 11: 69,321,896 (GRCm39) A3808V probably damaging Het
Dnah5 A T 15: 28,421,146 (GRCm39) T3828S probably benign Het
Dsg1c T C 18: 20,400,947 (GRCm39) I150T probably damaging Het
Ehd2 A T 7: 15,684,332 (GRCm39) I489N probably damaging Het
Fam24a C A 7: 130,938,392 (GRCm39) T94K probably damaging Het
Gata2 A G 6: 88,182,301 (GRCm39) E423G possibly damaging Het
Gm8947 A G 1: 151,069,063 (GRCm39) I299V unknown Het
Gpr161 A G 1: 165,133,896 (GRCm39) I53V possibly damaging Het
Hus1 A G 11: 8,948,744 (GRCm39) V219A probably benign Het
Il5 T C 11: 53,614,824 (GRCm39) W129R probably damaging Het
Ipmk A G 10: 71,201,843 (GRCm39) Y77C probably damaging Het
Kcnip3 A G 2: 127,307,322 (GRCm39) L136P probably benign Het
Klhl2 G A 8: 65,196,069 (GRCm39) A558V probably benign Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Lig3 G A 11: 82,686,199 (GRCm39) C613Y probably benign Het
Lrriq1 A G 10: 103,050,761 (GRCm39) S664P probably benign Het
Megf6 A G 4: 154,335,369 (GRCm39) Y276C probably damaging Het
Mlph A G 1: 90,856,068 (GRCm39) E119G probably damaging Het
Mrpl39 T G 16: 84,517,170 (GRCm39) R316S probably damaging Het
Myo18b T C 5: 112,994,247 (GRCm39) D902G probably benign Het
Myocd A G 11: 65,087,220 (GRCm39) S236P probably benign Het
Myom1 G T 17: 71,368,122 (GRCm39) A482S possibly damaging Het
Nol4 A G 18: 23,085,318 (GRCm39) V32A probably damaging Het
Nrp2 T C 1: 62,804,030 (GRCm39) Y555H probably damaging Het
Or12d12 T C 17: 37,610,956 (GRCm39) D119G probably damaging Het
Or4d10c G A 19: 12,065,434 (GRCm39) H241Y probably benign Het
Or52l1 A T 7: 104,829,967 (GRCm39) H199Q probably damaging Het
Or8k27 C A 2: 86,275,787 (GRCm39) D180Y probably damaging Het
Papss1 A G 3: 131,288,959 (GRCm39) K175E possibly damaging Het
Pdcd5 T C 7: 35,343,827 (GRCm39) M39V probably benign Het
Plcl2 G A 17: 50,913,953 (GRCm39) D321N probably benign Het
Plxna4 G A 6: 32,494,526 (GRCm39) P30L probably benign Het
Pou2f1 G A 1: 165,740,830 (GRCm39) T113I probably benign Het
Ptpn2 T A 18: 67,808,907 (GRCm39) H303L probably benign Het
R3hdm1 T A 1: 128,106,921 (GRCm39) probably null Het
Rdx T C 9: 51,977,069 (GRCm39) V106A probably damaging Het
Ripk2 T C 4: 16,138,181 (GRCm39) D249G possibly damaging Het
Rnf169 A T 7: 99,575,567 (GRCm39) S343T possibly damaging Het
Rnf40 T A 7: 127,195,769 (GRCm39) L671Q probably damaging Het
Scube3 C A 17: 28,386,138 (GRCm39) S793* probably null Het
Sipa1l3 A T 7: 29,028,481 (GRCm39) M1633K possibly damaging Het
Slc16a14 A T 1: 84,900,612 (GRCm39) N124K probably benign Het
Smarcd2 G A 11: 106,163,332 (GRCm39) A68V probably benign Het
Smg1 T C 7: 117,739,774 (GRCm39) E3391G possibly damaging Het
Spata32 T C 11: 103,099,741 (GRCm39) M255V possibly damaging Het
Sstr5 T A 17: 25,710,941 (GRCm39) Q96L probably damaging Het
Tcaf3 A G 6: 42,573,828 (GRCm39) I128T probably benign Het
Tfdp1 C T 8: 13,422,965 (GRCm39) T290M probably benign Het
Ticrr C T 7: 79,344,511 (GRCm39) H1459Y probably benign Het
Tmed4 T A 11: 6,223,763 (GRCm39) Q171L probably benign Het
Tmem40 G A 6: 115,719,321 (GRCm39) S48F possibly damaging Het
Tnfaip1 A G 11: 78,419,075 (GRCm39) probably null Het
Top1mt A G 15: 75,539,742 (GRCm39) Y290H probably damaging Het
Topaz1 A T 9: 122,577,585 (GRCm39) D165V probably damaging Het
Trim44 T C 2: 102,230,651 (GRCm39) S127G unknown Het
Ubac1 G A 2: 25,897,763 (GRCm39) R286C probably damaging Het
Ube2u A G 4: 100,406,958 (GRCm39) E273G possibly damaging Het
Vmn1r213 G A 13: 23,196,101 (GRCm39) S228N probably benign Het
Vmn2r28 A T 7: 5,487,118 (GRCm39) V515E probably damaging Het
Vps13d A G 4: 144,780,691 (GRCm39) L4011P Het
Ythdc2 T C 18: 45,019,383 (GRCm39) F1384S probably damaging Het
Zfp423 T A 8: 88,509,519 (GRCm39) Y275F probably damaging Het
Zfp493 A G 13: 67,934,325 (GRCm39) K93E probably benign Het
Zfp980 G T 4: 145,427,687 (GRCm39) G139W probably benign Het
Other mutations in Guca2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02971:Guca2b APN 4 119,514,885 (GRCm39) missense probably damaging 1.00
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
RF011:Guca2b UTSW 4 119,514,044 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CCTAGAACATGTTCACCCAGG -3'
(R):5'- TCAAGAAGCCAACTGTGGGC -3'

Sequencing Primer
(F):5'- TAGAACATGTTCACCCAGGCTTGAC -3'
(R):5'- AGTGCACAGGGTGTCTACATC -3'
Posted On 2022-06-15