Mutagenetix > Incidental Mutation

Incidental Mutation 'R5284:Gucy2c'

402941

Institutional Source

Beutler Lab

Gene Symbol

Gucy2c

Ensembl Gene

ENSMUSG00000042638

Gene Name

guanylate cyclase 2c

Synonyms

GC-C

MMRRC Submission

042841-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5284 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136674282-136758740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136740041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 262 (L262P)

Ref Sequence

ENSEMBL: ENSMUSP00000077236 (fasta)

Gene Model

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

AlphaFold

Q3UWA6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032338
AA Change: L262P

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: L262P

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

possibly damaging
Transcript: ENSMUST00000078095
AA Change: L262P

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: L262P

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	A	7: 45,630,483 (GRCm39)	Q1259L	probably benign	Het
Arhgef26	T	C	3: 62,327,052 (GRCm39)	S522P	probably damaging	Het
Asic5	C	T	3: 81,915,830 (GRCm39)	P218L	probably damaging	Het
Atad1	T	C	19: 32,664,671 (GRCm39)	M248V	probably benign	Het
Bank1	T	C	3: 135,769,915 (GRCm39)	D522G	probably damaging	Het
Bod1l	G	A	5: 41,977,810 (GRCm39)	S1168L	probably benign	Het
Cactin	A	G	10: 81,159,596 (GRCm39)	D51G	probably damaging	Het
Camkk1	A	G	11: 72,928,381 (GRCm39)	D261G	probably benign	Het
Cep152	A	G	2: 125,421,941 (GRCm39)	S930P	probably damaging	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Crim1	A	T	17: 78,620,695 (GRCm39)	R378S	possibly damaging	Het
Dcun1d4	T	C	5: 73,680,025 (GRCm39)		probably null	Het
Dhdds	A	G	4: 133,707,523 (GRCm39)	V187A	probably benign	Het
Ecpas	C	T	4: 58,836,172 (GRCm39)	E723K	possibly damaging	Het
Egfem1	A	G	3: 29,704,936 (GRCm39)	E251G	possibly damaging	Het
Ehhadh	T	C	16: 21,582,094 (GRCm39)		probably null	Het
Ep400	A	G	5: 110,815,990 (GRCm39)	V2724A	probably damaging	Het
Epb41l4a	T	A	18: 33,931,853 (GRCm39)	T581S	probably damaging	Het
Erg	C	T	16: 95,260,102 (GRCm39)	M1I	probably null	Het
Fastkd1	T	C	2: 69,542,532 (GRCm39)	T92A	probably benign	Het
Gabpb1	T	C	2: 126,494,277 (GRCm39)	H116R	possibly damaging	Het
Ifi203	C	T	1: 173,756,274 (GRCm39)		probably benign	Het
Kcnk13	A	C	12: 100,027,548 (GRCm39)	I208L	probably benign	Het
Klhl7	A	G	5: 24,364,615 (GRCm39)	T550A	probably benign	Het
Krtap12-1	G	T	10: 77,556,799 (GRCm39)	C114F	possibly damaging	Het
Myh7b	A	G	2: 155,474,234 (GRCm39)	T1650A	probably benign	Het
Myo19	T	A	11: 84,776,098 (GRCm39)		probably null	Het
Nav1	C	T	1: 135,377,701 (GRCm39)	W1656*	probably null	Het
Nup188	A	T	2: 30,220,647 (GRCm39)	S907C	probably damaging	Het
Oplah	A	T	15: 76,190,759 (GRCm39)	H125Q	probably benign	Het
Or6d12	T	A	6: 116,493,513 (GRCm39)	Y258*	probably null	Het
Pcnx1	A	T	12: 81,965,803 (GRCm39)	T657S	probably benign	Het
Phf14	C	A	6: 11,997,119 (GRCm39)	Q796K	probably damaging	Het
Plaa	T	C	4: 94,457,874 (GRCm39)	I699V	probably benign	Het
Prex2	C	A	1: 11,336,314 (GRCm39)	S1504*	probably null	Het
Prpf18	G	A	2: 4,650,481 (GRCm39)	Q50*	probably null	Het
Rnf213	A	G	11: 119,349,692 (GRCm39)	Y3851C	possibly damaging	Het
Rpgrip1	A	G	14: 52,386,733 (GRCm39)	D726G	probably damaging	Het
Sacm1l	T	C	9: 123,415,485 (GRCm39)	S487P	probably damaging	Het
Setdb1	G	T	3: 95,234,881 (GRCm39)	R941S	probably damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Smg8	G	A	11: 86,971,137 (GRCm39)	S878L	possibly damaging	Het
Trpc4	T	A	3: 54,187,368 (GRCm39)	V440E	probably damaging	Het
Tsen15	A	G	1: 152,247,624 (GRCm39)	S123P	probably damaging	Het
Tspan12	G	T	6: 21,835,466 (GRCm39)	A69D	probably damaging	Het
Ubiad1	G	A	4: 148,520,955 (GRCm39)	T223M	probably damaging	Het
Ubtfl1	A	T	9: 18,320,741 (GRCm39)	K90*	probably null	Het
Wdr19	C	T	5: 65,382,752 (GRCm39)	T492I	probably damaging	Het
Zfp423	C	T	8: 88,508,305 (GRCm39)	D659N	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
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
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

Predicted Primers

PCR Primer
(F):5'- GACTTCAGTTCAAATGCGGC -3'
(R):5'- GCTTTGGGGACTTGAGATTAATCC -3'

Sequencing Primer
(F):5'- TTCAAATGCGGCCATCATGG -3'
(R):5'- GCCATCCTGGACTATGTAGTAAC -3'

Posted On

2016-07-22