Incidental Mutation 'IGL02245:Gucy2c'
ID 286140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy2c
Ensembl Gene ENSMUSG00000042638
Gene Name guanylate cyclase 2c
Synonyms GC-C
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02245
Quality Score
Status
Chromosome 6
Chromosomal Location 136674282-136758740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 136706201 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3UWA6
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: 32,381,772 (GRCm39) I1398V probably benign Het
Abca5 G A 11: 110,188,995 (GRCm39) Q821* probably null Het
Bcl9 A T 3: 97,116,009 (GRCm39) L895Q probably damaging Het
Cpne7 A G 8: 123,844,357 (GRCm39) D41G probably damaging Het
Daxx A G 17: 34,131,351 (GRCm39) probably benign Het
Dbx2 A G 15: 95,522,628 (GRCm39) Y360H probably damaging Het
Dpy19l2 T C 9: 24,607,321 (GRCm39) T47A probably benign Het
Ephb3 T C 16: 21,040,174 (GRCm39) V512A probably benign Het
Exoc2 T C 13: 31,090,842 (GRCm39) D254G probably benign Het
Gtpbp1 G T 15: 79,575,127 (GRCm39) R7L probably benign Het
H2ac6 A T 13: 23,867,783 (GRCm39) Y40N probably damaging Het
H2ac6 G T 13: 23,867,784 (GRCm39) N39K possibly damaging Het
Hormad2 T C 11: 4,358,580 (GRCm39) probably benign Het
Impg2 A G 16: 56,089,445 (GRCm39) Q1130R probably damaging Het
Itga4 T A 2: 79,150,903 (GRCm39) D836E probably benign Het
Loxhd1 A T 18: 77,427,797 (GRCm39) T456S possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Map1b T C 13: 99,568,036 (GRCm39) T1562A unknown Het
Mre11a C T 9: 14,726,572 (GRCm39) probably benign Het
Myh1 A C 11: 67,102,313 (GRCm39) E868A possibly damaging Het
Nlrp4e T G 7: 23,020,300 (GRCm39) S262R probably damaging Het
Nlrp9a C T 7: 26,257,318 (GRCm39) T223I probably benign Het
Nosip A G 7: 44,723,466 (GRCm39) D44G probably benign Het
Nr6a1 C T 2: 38,630,565 (GRCm39) M217I probably benign Het
Numa1 A G 7: 101,649,601 (GRCm39) T1111A probably benign Het
Or6c6c T A 10: 129,541,608 (GRCm39) I287N probably damaging Het
Pms1 A G 1: 53,246,519 (GRCm39) L340P probably damaging Het
Prmt7 T C 8: 106,963,937 (GRCm39) V277A probably benign Het
Pxmp4 T C 2: 154,429,870 (GRCm39) Y173C probably damaging Het
Rbm11 G T 16: 75,389,896 (GRCm39) V21L possibly damaging Het
Rims1 A G 1: 22,416,712 (GRCm39) S1123P probably damaging Het
Rnf220 C T 4: 117,156,734 (GRCm39) probably benign Het
Rnf41 T G 10: 128,273,196 (GRCm39) *123G probably null Het
Samhd1 C T 2: 156,952,475 (GRCm39) D426N possibly damaging Het
Scn10a A G 9: 119,501,218 (GRCm39) W189R probably damaging Het
Slco1a6 A G 6: 142,055,150 (GRCm39) F265L probably damaging Het
Spag16 A G 1: 69,897,661 (GRCm39) D137G probably benign Het
Srsf12 G A 4: 33,209,103 (GRCm39) probably benign Het
Suclg2 A G 6: 95,572,722 (GRCm39) I81T possibly damaging Het
Tmc1 C T 19: 20,776,556 (GRCm39) R601H probably damaging Het
Trim33 T C 3: 103,254,086 (GRCm39) probably null Het
Vit A G 17: 78,932,480 (GRCm39) D529G probably damaging Het
Wbp1l C T 19: 46,643,057 (GRCm39) H353Y possibly damaging Het
Wdr70 A T 15: 8,075,965 (GRCm39) V170D possibly damaging Het
Ythdc2 T A 18: 44,995,751 (GRCm39) I947N possibly damaging Het
Zfp280b T C 10: 75,875,197 (GRCm39) S359P probably benign Het
Zfp936 T C 7: 42,836,722 (GRCm39) probably null Het
Zscan4d T A 7: 10,896,716 (GRCm39) Y218F probably benign 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
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
R7924:Gucy2c UTSW 6 136,740,053 (GRCm39) missense probably benign 0.35
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
Posted On 2015-04-16