Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01285:Gucy2c'

72696

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 #

IGL01285

Quality Score

Status

Chromosome

Chromosomal Location

136674282-136758740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136686739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 808 (F808S)

Ref Sequence

ENSEMBL: ENSMUSP00000077236 (fasta)

Gene Model

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

AlphaFold

Q3UWA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000032338
AA Change: F832S

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

SMART Domains

Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: F832S

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: F808S

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

SMART Domains

Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: F808S

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,271,610 (GRCm39)	N599S	probably benign	Het
Adam6a	A	T	12: 113,509,893 (GRCm39)	*755Y	probably null	Het
Adgrb3	G	T	1: 25,132,868 (GRCm39)	T1166K	probably benign	Het
Ano1	T	C	7: 144,198,479 (GRCm39)	Y345C	probably benign	Het
Ano1	A	G	7: 144,149,275 (GRCm39)	V862A	probably damaging	Het
Asap2	C	T	12: 21,279,264 (GRCm39)	A382V	probably damaging	Het
Asb18	A	G	1: 89,923,963 (GRCm39)	V100A	probably benign	Het
Bdnf	G	A	2: 109,553,931 (GRCm39)	A102T	probably benign	Het
Ccser2	G	A	14: 36,660,626 (GRCm39)	T509M	probably damaging	Het
Cfap47	A	G	X: 78,532,764 (GRCm39)	I767T	possibly damaging	Het
Des	G	A	1: 75,339,227 (GRCm39)	A251T	probably benign	Het
Dmd	C	T	X: 84,153,590 (GRCm39)	Q3224*	probably null	Het
Endog	G	T	2: 30,061,975 (GRCm39)		probably null	Het
Ggt7	A	G	2: 155,342,691 (GRCm39)	V269A	probably damaging	Het
Hira	A	G	16: 18,730,930 (GRCm39)	T210A	probably benign	Het
Ifitm5	C	A	7: 140,530,076 (GRCm39)	R16L	probably benign	Het
Igdcc4	T	C	9: 65,031,273 (GRCm39)	C404R	probably damaging	Het
Ints7	G	A	1: 191,347,890 (GRCm39)	R754H	probably benign	Het
Irf9	A	G	14: 55,845,058 (GRCm39)	E258G	probably damaging	Het
Megf11	T	C	9: 64,567,728 (GRCm39)	C406R	probably damaging	Het
Olfml1	A	G	7: 107,189,364 (GRCm39)	N143S	possibly damaging	Het
Or4m1	A	G	14: 50,557,713 (GRCm39)	F193S	possibly damaging	Het
Or6c66b	T	A	10: 129,376,711 (GRCm39)	F102I	probably benign	Het
Or7g30	A	G	9: 19,352,266 (GRCm39)	D19G	probably benign	Het
Otof	G	T	5: 30,562,527 (GRCm39)	Q254K	probably damaging	Het
Pate7	A	T	9: 35,688,044 (GRCm39)	N65K	possibly damaging	Het
Plcd3	A	G	11: 102,968,696 (GRCm39)	F332L	probably benign	Het
Plxnc1	T	C	10: 94,635,230 (GRCm39)	D1332G	probably damaging	Het
Rnasel	A	T	1: 153,634,130 (GRCm39)	D521V	probably benign	Het
Sema5a	T	A	15: 32,575,143 (GRCm39)	V417D	possibly damaging	Het
Senp6	G	A	9: 80,044,000 (GRCm39)	R877Q	probably benign	Het
Shroom2	A	T	X: 151,442,353 (GRCm39)	D937E	probably damaging	Het
Slc35a3	A	G	3: 116,488,262 (GRCm39)	S142P	probably damaging	Het
Srpx	A	T	X: 9,905,298 (GRCm39)	V398E	probably damaging	Het
Stk10	A	T	11: 32,560,653 (GRCm39)	K669N	possibly damaging	Het
Sumf2	A	G	5: 129,878,811 (GRCm39)	D49G	probably damaging	Het
Syde1	T	A	10: 78,424,721 (GRCm39)	E370D	probably damaging	Het
Tas2r115	G	T	6: 132,714,641 (GRCm39)	S103R	probably damaging	Het
Top2a	G	A	11: 98,896,985 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,550,842 (GRCm39)	T23190S	probably damaging	Het
Ttyh3	C	A	5: 140,615,167 (GRCm39)	C407F	probably damaging	Het
Vmn2r27	G	T	6: 124,169,370 (GRCm39)	H587N	possibly damaging	Het
Vmn2r74	A	G	7: 85,606,692 (GRCm39)	I218T	possibly damaging	Het
Vsig10	A	G	5: 117,462,954 (GRCm39)	N60S	probably benign	Het
Zc3h7a	A	G	16: 10,956,979 (GRCm39)	S877P	probably damaging	Het
Zfp979	G	T	4: 147,699,853 (GRCm39)	T29N	probably damaging	Het
Znfx1	G	A	2: 166,880,615 (GRCm39)	R390C	possibly damaging	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
IGL01081:Gucy2c	APN	6	136,679,737 (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

2013-10-07