Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01081:Gucy2c'

51265

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 #

IGL01081

Quality Score

Status

Chromosome

Chromosomal Location

136674282-136758740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 136679737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 974 (T974M)

Ref Sequence

ENSEMBL: ENSMUSP00000032338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032338] [ENSMUST00000078095]

AlphaFold

Q3UWA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000032338
AA Change: T974M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: T974M

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000078095
AA Change: T950M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: T950M

Domain	Start	End	E-Value	Type
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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,901,890 (GRCm39)	L158P	probably damaging	Het
Aco1	A	G	4: 40,197,576 (GRCm39)	Q860R	probably benign	Het
Actl11	A	T	9: 107,806,181 (GRCm39)	Q168L	possibly damaging	Het
Adam26b	T	C	8: 43,972,975 (GRCm39)	I676V	probably benign	Het
Aldoart2	A	C	12: 55,612,920 (GRCm39)	I282L	probably benign	Het
Capns1	G	T	7: 29,889,565 (GRCm39)	S211R	probably benign	Het
Cps1	T	C	1: 67,245,983 (GRCm39)	V1158A	probably damaging	Het
Cryl1	C	T	14: 57,523,821 (GRCm39)		probably null	Het
Cxcr5	A	G	9: 44,425,607 (GRCm39)		probably benign	Het
Dcaf13	A	G	15: 38,982,201 (GRCm39)	K56E	probably damaging	Het
Dlx6	T	G	6: 6,867,068 (GRCm39)	S85A	probably damaging	Het
Dsg2	C	T	18: 20,722,999 (GRCm39)		probably benign	Het
Dync1li1	T	A	9: 114,549,665 (GRCm39)	S412T	possibly damaging	Het
Ebf3	C	A	7: 136,827,625 (GRCm39)		probably benign	Het
Fads3	T	C	19: 10,030,366 (GRCm39)	I168T	probably benign	Het
Gm10295	G	A	7: 71,000,296 (GRCm39)	P95S	unknown	Het
Gm43638	T	C	5: 87,634,455 (GRCm39)	T51A	probably damaging	Het
Gm5114	G	A	7: 39,060,071 (GRCm39)		probably benign	Het
Ighv1-19-1	T	C	12: 114,672,258 (GRCm39)		probably benign	Het
Kri1	A	T	9: 21,191,723 (GRCm39)	L173Q	probably damaging	Het
Lztfl1	T	C	9: 123,531,338 (GRCm39)	D210G	probably benign	Het
Morc2a	T	A	11: 3,638,149 (GRCm39)	N958K	probably damaging	Het
Msl3l2	G	A	10: 55,992,021 (GRCm39)	A249T	probably benign	Het
Nlrp4a	A	G	7: 26,149,254 (GRCm39)	E287G	probably benign	Het
Nlrp9a	A	T	7: 26,257,519 (GRCm39)	N290I	possibly damaging	Het
Or2b28	T	G	13: 21,531,185 (GRCm39)	L29R	probably damaging	Het
Or4e2	A	G	14: 52,688,484 (GRCm39)	T205A	probably benign	Het
Or5al6	C	T	2: 85,976,955 (GRCm39)	G41D	probably benign	Het
Pcsk7	A	G	9: 45,840,005 (GRCm39)	D731G	probably benign	Het
Plppr5	T	A	3: 117,480,298 (GRCm39)		probably benign	Het
Podxl	T	C	6: 31,505,639 (GRCm39)	T135A	possibly damaging	Het
Pole	T	G	5: 110,485,106 (GRCm39)	C407G	possibly damaging	Het
Prl	C	A	13: 27,249,024 (GRCm39)	N224K	possibly damaging	Het
Prnp	A	T	2: 131,778,340 (GRCm39)		probably benign	Het
Proser2	A	G	2: 6,105,149 (GRCm39)	*472R	probably null	Het
Rhag	T	C	17: 41,122,178 (GRCm39)	S38P	possibly damaging	Het
Rnf146	T	C	10: 29,223,856 (GRCm39)	D10G	probably damaging	Het
Rps3a1	T	C	3: 86,049,085 (GRCm39)	D29G	probably benign	Het
Sv2a	A	T	3: 96,097,012 (GRCm39)	I446F	probably benign	Het
Tbc1d30	C	A	10: 121,103,319 (GRCm39)	R571L	probably damaging	Het
Tfrc	T	A	16: 32,443,646 (GRCm39)		probably null	Het
Tnfaip1	G	A	11: 78,419,129 (GRCm39)	P156S	probably damaging	Het
Vmn1r226	T	C	17: 20,908,166 (GRCm39)	S133P	probably damaging	Het
Wnt9b	C	T	11: 103,622,836 (GRCm39)	R189K	probably damaging	Het
Ythdc2	A	G	18: 44,983,726 (GRCm39)	H564R	probably benign	Het
Zfp442	C	A	2: 150,251,267 (GRCm39)	E211*	probably null	Het

Other mutations in Gucy2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Gucy2c	APN	6	136,742,612 (GRCm39)	missense	probably benign	0.01
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
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

2013-06-21