Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01752:Gucy2c'

153405

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 #

IGL01752

Quality Score

Status

Chromosome

Chromosomal Location

136674282-136758740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 136747106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 118 (A118S)

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: A118S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: A118S

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 benign
Transcript: ENSMUST00000078095
AA Change: A118S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: A118S

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	C	A	10: 85,490,366 (GRCm39)	Q1011K	probably damaging	Het
Akap11	A	T	14: 78,747,318 (GRCm39)		probably null	Het
Cdh4	A	T	2: 179,532,677 (GRCm39)	N713I	probably damaging	Het
Cdkl4	T	A	17: 80,851,043 (GRCm39)		probably benign	Het
Ddx21	A	G	10: 62,423,286 (GRCm39)	S639P	probably damaging	Het
Dock3	T	C	9: 106,902,512 (GRCm39)		probably benign	Het
Fan1	G	A	7: 64,022,542 (GRCm39)	T237M	probably benign	Het
Fbn2	T	A	18: 58,209,049 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,700,210 (GRCm39)	K347E	possibly damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Lox	A	G	18: 52,653,926 (GRCm39)	V390A	possibly damaging	Het
Lyn	A	T	4: 3,743,286 (GRCm39)	M69L	probably benign	Het
Mrgprb5	A	G	7: 47,818,415 (GRCm39)	F107L	probably benign	Het
Neurod2	T	C	11: 98,218,201 (GRCm39)	E321G	possibly damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Pcnx3	T	A	19: 5,715,365 (GRCm39)	K1962*	probably null	Het
Pde3a	T	C	6: 141,433,339 (GRCm39)		probably benign	Het
Phf10	A	G	17: 15,175,212 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,101,267 (GRCm39)	E2257G	possibly damaging	Het
Rock1	A	G	18: 10,079,113 (GRCm39)		probably null	Het
Slc4a11	T	G	2: 130,530,065 (GRCm39)	T238P	probably damaging	Het
Ssu2	T	A	6: 112,352,553 (GRCm39)	K279N	probably damaging	Het
Tead3	A	T	17: 28,552,568 (GRCm39)	I275N	probably damaging	Het
Ttn	T	C	2: 76,575,137 (GRCm39)	E25252G	probably damaging	Het
Twsg1	T	C	17: 66,236,779 (GRCm39)	T84A	probably benign	Het
Ugt3a1	A	T	15: 9,306,232 (GRCm39)	K127M	probably damaging	Het
Unc13c	A	T	9: 73,839,093 (GRCm39)	M586K	probably benign	Het
Vmn1r195	G	T	13: 22,463,421 (GRCm39)	C297F	probably benign	Het
Vps13c	T	A	9: 67,855,510 (GRCm39)	I2525N	probably damaging	Het
Zdhhc2	G	A	8: 40,926,042 (GRCm39)	A346T	probably benign	Het
Zfp52	T	G	17: 21,780,412 (GRCm39)	C87G	probably benign	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
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
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

2014-02-04