Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Gucy2c'

350962

Institutional Source

Beutler Lab

Gene Symbol

Gucy2c

Ensembl Gene

ENSMUSG00000042638

Gene Name

guanylate cyclase 2c

Synonyms

GC-C

MMRRC Submission

041824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136697284-136781765 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136708321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 898 (D898V)

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: D898V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: D898V

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: D874V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: D874V

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659		probably benign	Het
Areg	A	G	5: 91,143,504	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551	G986D	probably benign	Het
Caml	G	T	13: 55,625,142	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,231,532	R53S	probably benign	Het
Cdh22	T	A	2: 165,143,656	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869		probably null	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187	P53Q	probably damaging	Het
Fgf20	T	C	8: 40,286,611	R33G	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Gba	C	T	3: 89,208,644		probably null	Het
Gli2	A	G	1: 118,837,511	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993	V508D	probably damaging	Het
Kcnj15	T	C	16: 95,295,794	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302	Y1970*	probably null	Het
Map2	A	G	1: 66,425,469	N287D	probably damaging	Het
Map3k11	A	T	19: 5,697,470	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191	S1012N	probably benign	Het
Mapk13	A	T	17: 28,769,452	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,995,910	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,348,379	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,351,676	H647Q	probably benign	Het
Neo1	A	G	9: 58,889,041	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,436,022	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722	K80*	probably null	Het
Orc2	A	T	1: 58,500,309	L57*	probably null	Het
Otoa	G	A	7: 121,145,568	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,823,093	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,447,919	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836	S13*	probably null	Het
Rfng	A	G	11: 120,782,650	L215P	probably damaging	Het
Rpn2	T	C	2: 157,302,425	F336L	possibly damaging	Het
Sacs	A	G	14: 61,211,797		probably null	Het
Sirpb1a	T	A	3: 15,417,037	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,933,709	T146K	probably benign	Het
Strn4	T	C	7: 16,824,163	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,372,708	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,618,657	A278S	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289		probably null	Het
Vmn1r83	T	C	7: 12,321,768	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676	Y507H	probably damaging	Het

Other mutations in Gucy2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Gucy2c	APN	6	136765614	missense	probably benign	0.01
IGL01081:Gucy2c	APN	6	136702739	missense	probably damaging	1.00
IGL01285:Gucy2c	APN	6	136709741	missense	probably damaging	1.00
IGL01395:Gucy2c	APN	6	136698029	missense	probably damaging	1.00
IGL01408:Gucy2c	APN	6	136698011	missense	probably benign	0.19
IGL01752:Gucy2c	APN	6	136770108	missense	probably benign	0.10
IGL01766:Gucy2c	APN	6	136715973	missense	probably benign	0.43
IGL02245:Gucy2c	APN	6	136729203	missense	probably benign	0.00
IGL02648:Gucy2c	APN	6	136729213	nonsense	probably null
IGL02794:Gucy2c	APN	6	136713148	missense	probably damaging	1.00
IGL03023:Gucy2c	APN	6	136702796	splice site	probably null
IGL03178:Gucy2c	APN	6	136729239	splice site	probably benign
IGL03310:Gucy2c	APN	6	136751046	missense	probably benign
IGL03374:Gucy2c	APN	6	136765630	missense	probably benign	0.00
IGL03393:Gucy2c	APN	6	136719667	missense	probably benign	0.04
BB001:Gucy2c	UTSW	6	136763055	missense	probably benign	0.35
BB011:Gucy2c	UTSW	6	136763055	missense	probably benign	0.35
R0031:Gucy2c	UTSW	6	136697999	missense	probably damaging	0.99
R0128:Gucy2c	UTSW	6	136704249	missense	probably damaging	1.00
R0377:Gucy2c	UTSW	6	136750917	critical splice donor site	probably null
R0593:Gucy2c	UTSW	6	136728335	missense	probably damaging	0.99
R0613:Gucy2c	UTSW	6	136760723	missense	probably damaging	1.00
R0723:Gucy2c	UTSW	6	136727801	splice site	probably null
R0828:Gucy2c	UTSW	6	136709748	missense	probably damaging	1.00
R0837:Gucy2c	UTSW	6	136722420	missense	probably damaging	0.99
R0880:Gucy2c	UTSW	6	136709832	critical splice acceptor site	probably null
R1350:Gucy2c	UTSW	6	136743914	critical splice donor site	probably null
R1487:Gucy2c	UTSW	6	136748826	missense	possibly damaging	0.79
R1680:Gucy2c	UTSW	6	136722493	missense	probably damaging	1.00
R1751:Gucy2c	UTSW	6	136748775	splice site	probably benign
R1791:Gucy2c	UTSW	6	136744027	missense	probably damaging	1.00
R1953:Gucy2c	UTSW	6	136704293	missense	probably damaging	1.00
R2135:Gucy2c	UTSW	6	136723728	missense	probably damaging	1.00
R2227:Gucy2c	UTSW	6	136702760	missense	probably damaging	1.00
R2350:Gucy2c	UTSW	6	136763074	missense	probably damaging	0.98
R2906:Gucy2c	UTSW	6	136708387	missense	probably damaging	1.00
R2907:Gucy2c	UTSW	6	136708387	missense	probably damaging	1.00
R3699:Gucy2c	UTSW	6	136770111	missense	probably damaging	1.00
R3972:Gucy2c	UTSW	6	136708366	missense	probably damaging	1.00
R4732:Gucy2c	UTSW	6	136767152	missense	probably damaging	1.00
R4733:Gucy2c	UTSW	6	136767152	missense	probably damaging	1.00
R4776:Gucy2c	UTSW	6	136722514	missense	probably damaging	1.00
R5087:Gucy2c	UTSW	6	136767035	missense	possibly damaging	0.69
R5284:Gucy2c	UTSW	6	136763043	missense	possibly damaging	0.56
R5366:Gucy2c	UTSW	6	136720741	missense	probably damaging	0.99
R5466:Gucy2c	UTSW	6	136781465	nonsense	probably null
R5911:Gucy2c	UTSW	6	136722442	missense	probably damaging	1.00
R6160:Gucy2c	UTSW	6	136740686	nonsense	probably null
R6367:Gucy2c	UTSW	6	136709778	missense	probably damaging	1.00
R6441:Gucy2c	UTSW	6	136723761	missense	probably damaging	0.98
R6812:Gucy2c	UTSW	6	136697995	missense	probably benign
R6865:Gucy2c	UTSW	6	136770129	missense	probably benign	0.13
R7065:Gucy2c	UTSW	6	136720766	missense	probably damaging	1.00
R7078:Gucy2c	UTSW	6	136697939	missense	probably benign	0.19
R7096:Gucy2c	UTSW	6	136728341	missense	probably benign	0.11
R7138:Gucy2c	UTSW	6	136728344	missense	probably damaging	1.00
R7343:Gucy2c	UTSW	6	136702748	missense	probably damaging	1.00
R7538:Gucy2c	UTSW	6	136709744	missense	probably damaging	1.00
R7587:Gucy2c	UTSW	6	136704290	missense	probably damaging	1.00
R7666:Gucy2c	UTSW	6	136697968	missense	probably benign
R7675:Gucy2c	UTSW	6	136716032	missense	possibly damaging	0.91
R7822:Gucy2c	UTSW	6	136708406	missense	probably damaging	1.00
R7842:Gucy2c	UTSW	6	136769816	splice site	probably null
R7924:Gucy2c	UTSW	6	136763055	missense	probably benign	0.35
R8078:Gucy2c	UTSW	6	136697921	missense	probably damaging	1.00
R8094:Gucy2c	UTSW	6	136737448	missense	probably benign	0.33
R8391:Gucy2c	UTSW	6	136704215	missense	probably damaging	1.00
R8428:Gucy2c	UTSW	6	136727894	missense	probably damaging	0.96
R9188:Gucy2c	UTSW	6	136723758	missense	probably benign	0.44
R9189:Gucy2c	UTSW	6	136751047	missense	probably benign
R9325:Gucy2c	UTSW	6	136766994	nonsense	probably null
R9361:Gucy2c	UTSW	6	136737431	missense	possibly damaging	0.80
R9413:Gucy2c	UTSW	6	136723773	missense	possibly damaging	0.94
Z1088:Gucy2c	UTSW	6	136743981	missense	probably benign
Z1177:Gucy2c	UTSW	6	136719687	missense	probably damaging	1.00
Z1177:Gucy2c	UTSW	6	136767196	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAAAACCATGCCCTGTGTG -3'
(R):5'- GGGCCCTGAATGAGGTAAAC -3'

Sequencing Primer
(F):5'- AAAACCATGCCCTGTGTGTTTTG -3'
(R):5'- TAAACAGGACTGCTCGATCTG -3'

Posted On

2015-10-08