Incidental Mutation 'IGL02245:Gucy2c'
ID286140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy2c
Ensembl Gene ENSMUSG00000042638
Gene Nameguanylate cyclase 2c
SynonymsGC-C
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02245
Quality Score
Status
Chromosome6
Chromosomal Location136697284-136781765 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 136729203 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 500 (I500N)
Ref Sequence ENSEMBL: ENSMUSP00000077236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032338] [ENSMUST00000078095]
Predicted Effect probably benign
Transcript: ENSMUST00000032338
AA Change: I500N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: I500N

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: I500N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: I500N

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
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,659,815 I1398V probably benign Het
Abca5 G A 11: 110,298,169 Q821* probably null Het
Bcl9 A T 3: 97,208,693 L895Q probably damaging Het
Cpne7 A G 8: 123,117,618 D41G probably damaging Het
Daxx A G 17: 33,912,377 probably benign Het
Dbx2 A G 15: 95,624,747 Y360H probably damaging Het
Dpy19l2 T C 9: 24,696,025 T47A probably benign Het
Ephb3 T C 16: 21,221,424 V512A probably benign Het
Exoc2 T C 13: 30,906,859 D254G probably benign Het
Gtpbp1 G T 15: 79,690,926 R7L probably benign Het
Hist1h2ac A T 13: 23,683,800 Y40N probably damaging Het
Hist1h2ac G T 13: 23,683,801 N39K possibly damaging Het
Hormad2 T C 11: 4,408,580 probably benign Het
Impg2 A G 16: 56,269,082 Q1130R probably damaging Het
Itga4 T A 2: 79,320,559 D836E probably benign Het
Loxhd1 A T 18: 77,340,101 T456S possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Map1b T C 13: 99,431,528 T1562A unknown Het
Mre11a C T 9: 14,815,276 probably benign Het
Myh1 A C 11: 67,211,487 E868A possibly damaging Het
Nlrp4e T G 7: 23,320,875 S262R probably damaging Het
Nlrp9a C T 7: 26,557,893 T223I probably benign Het
Nosip A G 7: 45,074,042 D44G probably benign Het
Nr6a1 C T 2: 38,740,553 M217I probably benign Het
Numa1 A G 7: 102,000,394 T1111A probably benign Het
Olfr804 T A 10: 129,705,739 I287N probably damaging Het
Pms1 A G 1: 53,207,360 L340P probably damaging Het
Prmt7 T C 8: 106,237,305 V277A probably benign Het
Pxmp4 T C 2: 154,587,950 Y173C probably damaging Het
Rbm11 G T 16: 75,593,008 V21L possibly damaging Het
Rims1 A G 1: 22,346,488 S1123P probably damaging Het
Rnf220 C T 4: 117,299,537 probably benign Het
Rnf41 T G 10: 128,437,327 *123G probably null Het
Samhd1 C T 2: 157,110,555 D426N possibly damaging Het
Scn10a A G 9: 119,672,152 W189R probably damaging Het
Slco1a6 A G 6: 142,109,424 F265L probably damaging Het
Spag16 A G 1: 69,858,502 D137G probably benign Het
Srsf12 G A 4: 33,209,103 probably benign Het
Suclg2 A G 6: 95,595,741 I81T possibly damaging Het
Tmc1 C T 19: 20,799,192 R601H probably damaging Het
Trim33 T C 3: 103,346,770 probably null Het
Vit A G 17: 78,625,051 D529G probably damaging Het
Wbp1l C T 19: 46,654,618 H353Y possibly damaging Het
Wdr70 A T 15: 8,046,482 V170D possibly damaging Het
Ythdc2 T A 18: 44,862,684 I947N possibly damaging Het
Zfp280b T C 10: 76,039,363 S359P probably benign Het
Zfp936 T C 7: 43,187,298 probably null Het
Zscan4d T A 7: 11,162,789 Y218F probably benign Het
Other mutations in Gucy2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00849:Gucy2c APN 6 136765614 missense probably benign 0.01
IGL01081:Gucy2c APN 6 136702739 missense probably damaging 1.00
IGL01285:Gucy2c APN 6 136709741 missense probably damaging 1.00
IGL01395:Gucy2c APN 6 136698029 missense probably damaging 1.00
IGL01408:Gucy2c APN 6 136698011 missense probably benign 0.19
IGL01752:Gucy2c APN 6 136770108 missense probably benign 0.10
IGL01766:Gucy2c APN 6 136715973 missense probably benign 0.43
IGL02648:Gucy2c APN 6 136729213 nonsense probably null
IGL02794:Gucy2c APN 6 136713148 missense probably damaging 1.00
IGL03023:Gucy2c APN 6 136702796 splice site probably null
IGL03178:Gucy2c APN 6 136729239 splice site probably benign
IGL03310:Gucy2c APN 6 136751046 missense probably benign
IGL03374:Gucy2c APN 6 136765630 missense probably benign 0.00
IGL03393:Gucy2c APN 6 136719667 missense probably benign 0.04
BB001:Gucy2c UTSW 6 136763055 missense probably benign 0.35
BB011:Gucy2c UTSW 6 136763055 missense probably benign 0.35
R0031:Gucy2c UTSW 6 136697999 missense probably damaging 0.99
R0128:Gucy2c UTSW 6 136704249 missense probably damaging 1.00
R0377:Gucy2c UTSW 6 136750917 critical splice donor site probably null
R0593:Gucy2c UTSW 6 136728335 missense probably damaging 0.99
R0613:Gucy2c UTSW 6 136760723 missense probably damaging 1.00
R0723:Gucy2c UTSW 6 136727801 splice site probably null
R0828:Gucy2c UTSW 6 136709748 missense probably damaging 1.00
R0837:Gucy2c UTSW 6 136722420 missense probably damaging 0.99
R0880:Gucy2c UTSW 6 136709832 critical splice acceptor site probably null
R1350:Gucy2c UTSW 6 136743914 critical splice donor site probably null
R1487:Gucy2c UTSW 6 136748826 missense possibly damaging 0.79
R1680:Gucy2c UTSW 6 136722493 missense probably damaging 1.00
R1751:Gucy2c UTSW 6 136748775 splice site probably benign
R1791:Gucy2c UTSW 6 136744027 missense probably damaging 1.00
R1953:Gucy2c UTSW 6 136704293 missense probably damaging 1.00
R2135:Gucy2c UTSW 6 136723728 missense probably damaging 1.00
R2227:Gucy2c UTSW 6 136702760 missense probably damaging 1.00
R2350:Gucy2c UTSW 6 136763074 missense probably damaging 0.98
R2906:Gucy2c UTSW 6 136708387 missense probably damaging 1.00
R2907:Gucy2c UTSW 6 136708387 missense probably damaging 1.00
R3699:Gucy2c UTSW 6 136770111 missense probably damaging 1.00
R3972:Gucy2c UTSW 6 136708366 missense probably damaging 1.00
R4613:Gucy2c UTSW 6 136708321 missense probably damaging 1.00
R4732:Gucy2c UTSW 6 136767152 missense probably damaging 1.00
R4733:Gucy2c UTSW 6 136767152 missense probably damaging 1.00
R4776:Gucy2c UTSW 6 136722514 missense probably damaging 1.00
R5087:Gucy2c UTSW 6 136767035 missense possibly damaging 0.69
R5284:Gucy2c UTSW 6 136763043 missense possibly damaging 0.56
R5366:Gucy2c UTSW 6 136720741 missense probably damaging 0.99
R5466:Gucy2c UTSW 6 136781465 nonsense probably null
R5911:Gucy2c UTSW 6 136722442 missense probably damaging 1.00
R6160:Gucy2c UTSW 6 136740686 nonsense probably null
R6367:Gucy2c UTSW 6 136709778 missense probably damaging 1.00
R6441:Gucy2c UTSW 6 136723761 missense probably damaging 0.98
R6812:Gucy2c UTSW 6 136697995 missense probably benign
R6865:Gucy2c UTSW 6 136770129 missense probably benign 0.13
R7065:Gucy2c UTSW 6 136720766 missense probably damaging 1.00
R7078:Gucy2c UTSW 6 136697939 missense probably benign 0.19
R7096:Gucy2c UTSW 6 136728341 missense probably benign 0.11
R7138:Gucy2c UTSW 6 136728344 missense probably damaging 1.00
R7343:Gucy2c UTSW 6 136702748 missense probably damaging 1.00
R7538:Gucy2c UTSW 6 136709744 missense probably damaging 1.00
R7587:Gucy2c UTSW 6 136704290 missense probably damaging 1.00
R7666:Gucy2c UTSW 6 136697968 missense probably benign
R7675:Gucy2c UTSW 6 136716032 missense possibly damaging 0.91
R7822:Gucy2c UTSW 6 136708406 missense probably damaging 1.00
R7842:Gucy2c UTSW 6 136769816 splice site probably null
R7924:Gucy2c UTSW 6 136763055 missense probably benign 0.35
R8078:Gucy2c UTSW 6 136697921 missense probably damaging 1.00
R8094:Gucy2c UTSW 6 136737448 missense probably benign 0.33
R8391:Gucy2c UTSW 6 136704215 missense probably damaging 1.00
R8428:Gucy2c UTSW 6 136727894 missense probably damaging 0.96
Z1088:Gucy2c UTSW 6 136743981 missense probably benign
Z1177:Gucy2c UTSW 6 136719687 missense probably damaging 1.00
Z1177:Gucy2c UTSW 6 136767196 missense probably benign 0.01
Posted On2015-04-16