Incidental Mutation 'R7924:Gucy2c'
ID 643195
Institutional Source Beutler Lab
Gene Symbol Gucy2c
Ensembl Gene ENSMUSG00000042638
Gene Name guanylate cyclase 2c
Synonyms GC-C
MMRRC Submission 045971-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7924 (G1)
Quality Score 999
Status Validated
Chromosome 6
Chromosomal Location 136674282-136758740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 136740053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 258 (V258E)
Ref Sequence ENSEMBL: ENSMUSP00000032338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032338] [ENSMUST00000078095]
AlphaFold Q3UWA6
Predicted Effect probably benign
Transcript: ENSMUST00000032338
AA Change: V258E

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: V258E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ANF_receptor 113 384 3.7e-8 PFAM
transmembrane domain 432 454 N/A INTRINSIC
Pfam:Pkinase_Tyr 498 744 3.4e-33 PFAM
Pfam:Pkinase 499 744 1e-26 PFAM
CYCc 787 982 2.68e-107 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078095
AA Change: V258E

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: V258E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ANF_receptor 53 385 2.7e-41 PFAM
transmembrane domain 432 454 N/A INTRINSIC
Pfam:Pkinase_Tyr 475 720 6.5e-32 PFAM
Pfam:Pkinase 480 720 7.2e-25 PFAM
CYCc 763 958 2.68e-107 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 99% (78/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous null mice are viable and have an increased resistance to heat-stable enterotoxins. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T A 8: 125,390,051 (GRCm39) probably benign Het
Acacb A G 5: 114,383,281 (GRCm39) K2155E possibly damaging Het
Adgre5 G A 8: 84,456,029 (GRCm39) P256S possibly damaging Het
Adipor1 T A 1: 134,353,731 (GRCm39) V172D probably damaging Het
Ahsa1 T C 12: 87,317,230 (GRCm39) probably null Het
Ankrd11 T C 8: 123,622,641 (GRCm39) I404V possibly damaging Het
Asxl3 G A 18: 22,658,602 (GRCm39) R2204Q probably damaging Het
Barhl2 A G 5: 106,605,515 (GRCm39) S65P unknown Het
Bbx A T 16: 50,044,671 (GRCm39) L630H probably damaging Het
Cars1 T C 7: 143,123,608 (GRCm39) T531A possibly damaging Het
Catsperb T A 12: 101,486,824 (GRCm39) H450Q probably benign Het
Cdt1 T C 8: 123,296,091 (GRCm39) L135P probably damaging Het
Cemip A T 7: 83,592,923 (GRCm39) probably benign Het
Cfap206 T A 4: 34,728,833 (GRCm39) H24L probably benign Het
Cilk1 T C 9: 78,062,746 (GRCm39) L260P probably damaging Het
Cnga4 T A 7: 105,057,028 (GRCm39) V480E probably benign Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Ctcfl G A 2: 172,955,449 (GRCm39) T271I possibly damaging Het
Dlc1 T C 8: 37,038,570 (GRCm39) R1003G probably benign Het
Dnah7b A G 1: 46,258,590 (GRCm39) D1927G probably benign Het
Dscc1 A T 15: 54,945,572 (GRCm39) D374E probably benign Het
Eci2 G A 13: 35,177,053 (GRCm39) Q69* probably null Het
Ep300 C A 15: 81,533,703 (GRCm39) P1920Q unknown Het
Epha5 A G 5: 84,232,705 (GRCm39) Y629H possibly damaging Het
Fat2 G A 11: 55,153,613 (GRCm39) T3533I probably benign Het
Fat3 T C 9: 15,910,593 (GRCm39) N1803S probably damaging Het
Fcrl2 T C 3: 87,166,840 (GRCm39) Y51C probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gcnt2 A T 13: 41,072,040 (GRCm39) K228* probably null Het
Hecw1 C A 13: 14,497,113 (GRCm39) L298F probably damaging Het
Hydin T G 8: 111,145,103 (GRCm39) V818G possibly damaging Het
Hykk A G 9: 54,829,524 (GRCm39) Y131C probably damaging Het
Mpo A G 11: 87,685,666 (GRCm39) D48G probably damaging Het
Mrps10 T C 17: 47,689,208 (GRCm39) *202Q probably null Het
Mrps14 T C 1: 160,024,559 (GRCm39) V30A probably benign Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Muc2 G T 7: 141,281,631 (GRCm39) G497W probably damaging Het
Nnt A T 13: 119,523,181 (GRCm39) V237D probably damaging Het
Nox4 G T 7: 87,023,589 (GRCm39) V492L probably benign Het
Obscn C G 11: 59,003,381 (GRCm39) E1306Q probably benign Het
Or5ak23 T C 2: 85,244,563 (GRCm39) Y220C probably benign Het
Or6aa1 A G 7: 86,043,938 (GRCm39) I256T probably damaging Het
Pard3 A G 8: 128,137,231 (GRCm39) N861S probably benign Het
Pdlim4 G A 11: 53,946,048 (GRCm39) R230* probably null Het
Pinlyp C T 7: 24,241,550 (GRCm39) V159M possibly damaging Het
Pla2g4d T C 2: 120,119,645 (GRCm39) probably benign Het
Plcb1 A T 2: 135,201,613 (GRCm39) T855S probably benign Het
Pot1a T A 6: 25,753,309 (GRCm39) D409V possibly damaging Het
Prom1 T C 5: 44,187,111 (GRCm39) D382G probably benign Het
Prss16 A T 13: 22,192,834 (GRCm39) N83K probably damaging Het
Ptprn2 A G 12: 116,804,884 (GRCm39) D133G probably benign Het
Rasef C T 4: 73,659,166 (GRCm39) probably null Het
Rbak A G 5: 143,160,241 (GRCm39) S271P probably damaging Het
Rbm20 A T 19: 53,666,016 (GRCm39) I60F possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rsf1 G GACGGCCGCC 7: 97,229,116 (GRCm39) probably benign Het
Serpinb3c A G 1: 107,200,904 (GRCm39) L171P probably damaging Het
Slc25a19 T C 11: 115,506,376 (GRCm39) Y211C unknown Het
Sorbs2 C T 8: 46,248,507 (GRCm39) S586L probably damaging Het
Spesp1 A T 9: 62,180,733 (GRCm39) S58R probably benign Het
Spryd3 A G 15: 102,026,762 (GRCm39) I329T probably benign Het
St8sia2 G A 7: 73,616,700 (GRCm39) L113F probably damaging Het
Star T C 8: 26,299,883 (GRCm39) I75T possibly damaging Het
Tasor2 A T 13: 3,644,331 (GRCm39) F129Y possibly damaging Het
Tdrd6 T A 17: 43,938,697 (GRCm39) I784F possibly damaging Het
Tex55 G A 16: 38,632,826 (GRCm39) Q369* probably null Het
Tsc22d4 A G 5: 137,766,273 (GRCm39) I144V unknown Het
Tspan8 T C 10: 115,669,229 (GRCm39) probably null Het
Ttll9 C T 2: 152,804,407 (GRCm39) probably benign Het
Ttn T C 2: 76,640,194 (GRCm39) probably benign Het
Ubr4 T G 4: 139,194,587 (GRCm39) L1160R unknown Het
Ufd1 A G 16: 18,642,035 (GRCm39) Y162C possibly damaging Het
Unc13c A T 9: 73,641,690 (GRCm39) F1268I probably benign Het
Uvssa T C 5: 33,568,295 (GRCm39) I561T probably damaging Het
Vmn2r15 A T 5: 109,434,254 (GRCm39) S817T probably damaging Het
Ybx1 T C 4: 119,139,476 (GRCm39) E173G probably damaging Het
Zc3h6 T C 2: 128,857,400 (GRCm39) S640P possibly damaging Het
Other mutations in Gucy2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00849:Gucy2c APN 6 136,742,612 (GRCm39) missense probably benign 0.01
IGL01081:Gucy2c APN 6 136,679,737 (GRCm39) missense probably damaging 1.00
IGL01285:Gucy2c APN 6 136,686,739 (GRCm39) missense probably damaging 1.00
IGL01395:Gucy2c APN 6 136,675,027 (GRCm39) missense probably damaging 1.00
IGL01408:Gucy2c APN 6 136,675,009 (GRCm39) missense probably benign 0.19
IGL01752:Gucy2c APN 6 136,747,106 (GRCm39) missense probably benign 0.10
IGL01766:Gucy2c APN 6 136,692,971 (GRCm39) missense probably benign 0.43
IGL02245:Gucy2c APN 6 136,706,201 (GRCm39) missense probably benign 0.00
IGL02648:Gucy2c APN 6 136,706,211 (GRCm39) nonsense probably null
IGL02794:Gucy2c APN 6 136,690,146 (GRCm39) missense probably damaging 1.00
IGL03023:Gucy2c APN 6 136,679,794 (GRCm39) splice site probably null
IGL03178:Gucy2c APN 6 136,706,237 (GRCm39) splice site probably benign
IGL03310:Gucy2c APN 6 136,728,044 (GRCm39) missense probably benign
IGL03374:Gucy2c APN 6 136,742,628 (GRCm39) missense probably benign 0.00
IGL03393:Gucy2c APN 6 136,696,665 (GRCm39) missense probably benign 0.04
BB001:Gucy2c UTSW 6 136,740,053 (GRCm39) missense probably benign 0.35
BB011:Gucy2c UTSW 6 136,740,053 (GRCm39) missense probably benign 0.35
R0031:Gucy2c UTSW 6 136,674,997 (GRCm39) missense probably damaging 0.99
R0128:Gucy2c UTSW 6 136,681,247 (GRCm39) missense probably damaging 1.00
R0377:Gucy2c UTSW 6 136,727,915 (GRCm39) critical splice donor site probably null
R0593:Gucy2c UTSW 6 136,705,333 (GRCm39) missense probably damaging 0.99
R0613:Gucy2c UTSW 6 136,737,721 (GRCm39) missense probably damaging 1.00
R0723:Gucy2c UTSW 6 136,704,799 (GRCm39) splice site probably null
R0828:Gucy2c UTSW 6 136,686,746 (GRCm39) missense probably damaging 1.00
R0837:Gucy2c UTSW 6 136,699,418 (GRCm39) missense probably damaging 0.99
R0880:Gucy2c UTSW 6 136,686,830 (GRCm39) critical splice acceptor site probably null
R1350:Gucy2c UTSW 6 136,720,912 (GRCm39) critical splice donor site probably null
R1487:Gucy2c UTSW 6 136,725,824 (GRCm39) missense possibly damaging 0.79
R1680:Gucy2c UTSW 6 136,699,491 (GRCm39) missense probably damaging 1.00
R1751:Gucy2c UTSW 6 136,725,773 (GRCm39) splice site probably benign
R1791:Gucy2c UTSW 6 136,721,025 (GRCm39) missense probably damaging 1.00
R1953:Gucy2c UTSW 6 136,681,291 (GRCm39) missense probably damaging 1.00
R2135:Gucy2c UTSW 6 136,700,726 (GRCm39) missense probably damaging 1.00
R2227:Gucy2c UTSW 6 136,679,758 (GRCm39) missense probably damaging 1.00
R2350:Gucy2c UTSW 6 136,740,072 (GRCm39) missense probably damaging 0.98
R2906:Gucy2c UTSW 6 136,685,385 (GRCm39) missense probably damaging 1.00
R2907:Gucy2c UTSW 6 136,685,385 (GRCm39) missense probably damaging 1.00
R3699:Gucy2c UTSW 6 136,747,109 (GRCm39) missense probably damaging 1.00
R3972:Gucy2c UTSW 6 136,685,364 (GRCm39) missense probably damaging 1.00
R4613:Gucy2c UTSW 6 136,685,319 (GRCm39) missense probably damaging 1.00
R4732:Gucy2c UTSW 6 136,744,150 (GRCm39) missense probably damaging 1.00
R4733:Gucy2c UTSW 6 136,744,150 (GRCm39) missense probably damaging 1.00
R4776:Gucy2c UTSW 6 136,699,512 (GRCm39) missense probably damaging 1.00
R5087:Gucy2c UTSW 6 136,744,033 (GRCm39) missense possibly damaging 0.69
R5284:Gucy2c UTSW 6 136,740,041 (GRCm39) missense possibly damaging 0.56
R5366:Gucy2c UTSW 6 136,697,739 (GRCm39) missense probably damaging 0.99
R5466:Gucy2c UTSW 6 136,758,463 (GRCm39) nonsense probably null
R5911:Gucy2c UTSW 6 136,699,440 (GRCm39) missense probably damaging 1.00
R6160:Gucy2c UTSW 6 136,717,684 (GRCm39) nonsense probably null
R6367:Gucy2c UTSW 6 136,686,776 (GRCm39) missense probably damaging 1.00
R6441:Gucy2c UTSW 6 136,700,759 (GRCm39) missense probably damaging 0.98
R6812:Gucy2c UTSW 6 136,674,993 (GRCm39) missense probably benign
R6865:Gucy2c UTSW 6 136,747,127 (GRCm39) missense probably benign 0.13
R7065:Gucy2c UTSW 6 136,697,764 (GRCm39) missense probably damaging 1.00
R7078:Gucy2c UTSW 6 136,674,937 (GRCm39) missense probably benign 0.19
R7096:Gucy2c UTSW 6 136,705,339 (GRCm39) missense probably benign 0.11
R7138:Gucy2c UTSW 6 136,705,342 (GRCm39) missense probably damaging 1.00
R7343:Gucy2c UTSW 6 136,679,746 (GRCm39) missense probably damaging 1.00
R7538:Gucy2c UTSW 6 136,686,742 (GRCm39) missense probably damaging 1.00
R7587:Gucy2c UTSW 6 136,681,288 (GRCm39) missense probably damaging 1.00
R7666:Gucy2c UTSW 6 136,674,966 (GRCm39) missense probably benign
R7675:Gucy2c UTSW 6 136,693,030 (GRCm39) missense possibly damaging 0.91
R7822:Gucy2c UTSW 6 136,685,404 (GRCm39) missense probably damaging 1.00
R7842:Gucy2c UTSW 6 136,746,814 (GRCm39) splice site probably null
R8078:Gucy2c UTSW 6 136,674,919 (GRCm39) missense probably damaging 1.00
R8094:Gucy2c UTSW 6 136,714,446 (GRCm39) missense probably benign 0.33
R8391:Gucy2c UTSW 6 136,681,213 (GRCm39) missense probably damaging 1.00
R8428:Gucy2c UTSW 6 136,704,892 (GRCm39) missense probably damaging 0.96
R9188:Gucy2c UTSW 6 136,700,756 (GRCm39) missense probably benign 0.44
R9189:Gucy2c UTSW 6 136,728,045 (GRCm39) missense probably benign
R9325:Gucy2c UTSW 6 136,743,992 (GRCm39) nonsense probably null
R9361:Gucy2c UTSW 6 136,714,429 (GRCm39) missense possibly damaging 0.80
R9413:Gucy2c UTSW 6 136,700,771 (GRCm39) missense possibly damaging 0.94
Z1088:Gucy2c UTSW 6 136,720,979 (GRCm39) missense probably benign
Z1177:Gucy2c UTSW 6 136,744,194 (GRCm39) missense probably benign 0.01
Z1177:Gucy2c UTSW 6 136,696,685 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCAAATGCGGCCATCATGG -3'
(R):5'- AGCTTTGGGGACTTGAGATTAATC -3'

Sequencing Primer
(F):5'- GCGGCTGCCCACACAAG -3'
(R):5'- GCCATCCTGGACTATGTAGTAAC -3'
Posted On 2020-08-07