Incidental Mutation 'RF011:Guca2b'
ID 603193
Institutional Source Beutler Lab
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 # RF011 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 119513798-119516142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119514044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 89 (T89N)
Ref Sequence ENSEMBL: ENSMUSP00000043203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044426] [ENSMUST00000106309]
AlphaFold O09051
Predicted Effect possibly damaging
Transcript: ENSMUST00000044426
AA Change: T89N

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043203
Gene: ENSMUSG00000032978
AA Change: T89N

DomainStartEndE-ValueType
Pfam:Guanylin 20 106 9e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106309
AA Change: T113N

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101916
Gene: ENSMUSG00000032978
AA Change: T113N

DomainStartEndE-ValueType
Pfam:Guanylin 47 130 2.4e-33 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.5%
  • 20x: 99.0%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik GTGGTGGCTG GTGGTGGCTGTGGTGGCTG 1: 82,891,290 (GRCm39) probably benign Het
A030005L19Rik TGCTG TGCTGTGGCGGCTG 1: 82,891,307 (GRCm39) probably benign Het
A030005L19Rik TGGCTGCTG TGGCTGCTGGGGCTGCTG 1: 82,891,294 (GRCm39) probably benign Het
AI837181 GCG GCGTCG 19: 5,475,264 (GRCm39) probably benign Het
Ankrd24 C CGGAGGCAGAGGA 10: 81,479,405 (GRCm39) probably benign Het
Aqp2 T C 15: 99,481,753 (GRCm39) S216P probably damaging Het
Brd10 T C 19: 29,721,009 (GRCm39) K672R possibly damaging Het
Cacna1f GGA GGAAGA X: 7,486,295 (GRCm39) probably benign Het
Ccdc170 CCA CCAGCA 10: 4,511,018 (GRCm39) probably benign Het
Cd109 TATTTAT TATTTATTTATTCATTTAT 9: 78,619,810 (GRCm39) probably benign Het
Cela2a T C 4: 141,549,026 (GRCm39) N117D probably benign Het
Cul9 CTTC CTTCTTC 17: 46,811,774 (GRCm39) probably benign Het
Cyb5r2 A T 7: 107,350,375 (GRCm39) S235R probably benign Het
Dnmt1 CACAGTTCCTACCTCGTT CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT 9: 20,821,424 (GRCm39) probably null Het
Dnmt1 TT TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT 9: 20,821,440 (GRCm39) probably null Het
E4f1 CCG CCGTCG 17: 24,674,160 (GRCm39) probably benign Het
Fam171b TCCAGCA TCCAGCACCAGCA 2: 83,643,217 (GRCm39) probably benign Het
Fam171b GC GCAGCATC 2: 83,643,239 (GRCm39) probably benign Het
Fam81b CTGTT CTGTTGTT 13: 76,419,435 (GRCm39) probably benign Het
Fkbp1a GCCGCCGCCA G 2: 151,384,619 (GRCm39) probably null Het
Flii G A 11: 60,607,069 (GRCm39) A969V probably benign Het
Fscb AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG 12: 64,519,768 (GRCm39) probably benign Het
Gas1 G GAAA 13: 60,324,345 (GRCm39) probably benign Het
Grip1 A G 10: 119,767,220 (GRCm39) D115G probably null Het
Hcn4 T A 9: 58,767,198 (GRCm39) S920T unknown Het
Heatr1 A G 13: 12,422,425 (GRCm39) M484V probably benign Het
Iba57 G T 11: 59,054,438 (GRCm39) A27E probably benign Het
Ifi207 G C 1: 173,556,687 (GRCm39) L684V not run Het
Ints13 T C 6: 146,457,738 (GRCm39) H380R probably damaging Het
Jmjd1c C T 10: 67,055,978 (GRCm39) T466I possibly damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Kif12 C CCTCCACCCGGCGGGG 4: 63,089,664 (GRCm39) probably benign Het
Kmt2c A T 5: 25,543,457 (GRCm39) D1399E probably damaging Het
Macf1 A T 4: 123,367,648 (GRCm39) L2371Q probably damaging Het
Mbd1 GTCTTCGTCTGCATCTGCATCTGCATCT GTCT 18: 74,406,681 (GRCm39) probably benign Het
Med12l GCA GCATCA 3: 59,183,401 (GRCm39) probably benign Het
Mgam C A 6: 40,734,370 (GRCm39) Q1472K probably damaging Het
Mup21 TATACTT TATACTTTTTAGATACTT 4: 62,067,582 (GRCm39) probably benign Het
Nalf2 CGCCGC CGCCGCAGCCGC X: 98,864,967 (GRCm39) probably benign Het
Nipal1 A G 5: 72,824,156 (GRCm39) N167D probably damaging Het
Or4d10c C T 19: 12,065,611 (GRCm39) V182I probably benign Het
Or5be3 T A 2: 86,864,385 (GRCm39) Y60F probably damaging Het
Osbpl3 CCTGCA C 6: 50,325,118 (GRCm39) probably benign Het
Phf20 CCCCCCCCC CCCCCCCCCCCCCCCC 2: 156,146,540 (GRCm39) probably benign Het
Phf20 CCCCCCCC CCCCCCCCCCCCCCC 2: 156,146,541 (GRCm39) probably benign Het
Pramel16 C G 4: 143,675,478 (GRCm39) Q449H probably damaging Het
Rassf6 TCCTGTAGAGCAATGGGGATTC TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC 5: 90,756,780 (GRCm39) probably benign Het
Rbm33 CCAGCCGCAGC CCAGC 5: 28,599,179 (GRCm39) probably benign Het
Rubcnl T C 14: 75,281,878 (GRCm39) F445S probably damaging Het
S100a10 TTTTTTTA T 3: 93,471,541 (GRCm39) probably benign Het
Sbp AA AAAATGCTGACAACGGA 17: 24,164,328 (GRCm39) probably benign Het
Sec14l3 A C 11: 4,017,963 (GRCm39) Q81P possibly damaging Het
Setd1a TGGTGGTGG TGGTGGTGGGGGTGGTGG 7: 127,384,515 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,796 (GRCm39) probably benign Het
Snapc5 ATGGAAGAAGAGG A 9: 64,089,493 (GRCm39) probably benign Het
Tbc1d12 CGGAGGAGG CGG 19: 38,825,401 (GRCm39) probably benign Het
Tcof1 AGC AGCCGC 18: 60,968,811 (GRCm39) probably benign Het
Tox2 A G 2: 163,067,484 (GRCm39) I68V probably benign Het
Triml2 G T 8: 43,636,201 (GRCm39) probably benign Het
Tspan33 A G 6: 29,716,729 (GRCm39) Y162C probably damaging Het
Zfp384 GGCCCAGGCCCA GGCCCAGGCCCAAGCCCAGGCCCA 6: 125,013,439 (GRCm39) probably benign Het
Zfp948 T C 17: 21,808,574 (GRCm39) Y589H probably damaging Het
Zic1 T C 9: 91,246,383 (GRCm39) I230V 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
R9469:Guca2b UTSW 4 119,515,817 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTTATTCAGGTGCAGCTGCC -3'
(R):5'- GAGAGAGGAATCTAGCCCCTAG -3'

Sequencing Primer
(F):5'- GCATCCACATTGCCTTGCTAAG -3'
(R):5'- AGCCCCTCATTCTATATGGAAC -3'
Posted On 2019-12-04