Mutagenetix > Incidental Mutation

Incidental Mutation 'R0837:Gucy2c'

77990

Institutional Source

Beutler Lab

Gene Symbol

Gucy2c

Ensembl Gene

ENSMUSG00000042638

Gene Name

guanylate cyclase 2c

Synonyms

GC-C

MMRRC Submission

039016-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136674282-136758740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 136699418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 617 (P617L)

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: P641L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: P641L

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: P617L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: P617L

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

Meta Mutation Damage Score

0.3591

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

96% (44/46)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	T	C	14: 60,333,375 (GRCm39)		probably benign	Het
4930579C12Rik	A	G	9: 89,050,260 (GRCm39)		noncoding transcript	Het
Adam34	T	A	8: 44,104,537 (GRCm39)	K369N	probably benign	Het
Ap1g1	T	C	8: 110,577,697 (GRCm39)	W481R	probably damaging	Het
Bicdl1	G	A	5: 115,869,351 (GRCm39)	P26S	probably benign	Het
Cacna1c	A	T	6: 118,607,231 (GRCm39)	C1224*	probably null	Het
Cpsf2	C	T	12: 101,963,501 (GRCm39)		probably benign	Het
Cyp11b2	G	A	15: 74,725,490 (GRCm39)	R210W	probably damaging	Het
Dock7	C	T	4: 98,877,495 (GRCm39)	V1048I	probably benign	Het
Dync2h1	C	A	9: 7,077,979 (GRCm39)	A2908S	probably benign	Het
Elane	A	G	10: 79,722,942 (GRCm39)	D116G	probably damaging	Het
Epb41l2	C	T	10: 25,383,714 (GRCm39)	R153C	probably damaging	Het
H2ac21	G	A	3: 96,127,439 (GRCm39)	A70T	probably damaging	Het
Kcnq4	T	A	4: 120,604,058 (GRCm39)	I106L	probably benign	Het
Man2b1	A	G	8: 85,823,458 (GRCm39)	N931D	possibly damaging	Het
Mthfs	A	G	9: 89,097,443 (GRCm39)	E100G	probably damaging	Het
Mto1	A	T	9: 78,381,072 (GRCm39)	I639F	probably damaging	Het
Myo15a	A	G	11: 60,378,077 (GRCm39)	E177G	probably damaging	Het
Naip5	T	A	13: 100,367,251 (GRCm39)	M282L	probably benign	Het
Or10aa1	A	G	1: 173,870,053 (GRCm39)	D179G	probably damaging	Het
Pik3c2g	G	A	6: 139,903,425 (GRCm39)		probably benign	Het
Prl7d1	T	A	13: 27,898,321 (GRCm39)	M64L	probably benign	Het
Prnp	A	T	2: 131,778,444 (GRCm39)	N32I	probably damaging	Het
Ptpn11	C	T	5: 121,287,174 (GRCm39)	V406I	probably benign	Het
Rab40c	G	A	17: 26,103,667 (GRCm39)	T151I	probably damaging	Het
Rb1cc1	T	A	1: 6,304,495 (GRCm39)		probably null	Het
Rnf145	T	C	11: 44,415,815 (GRCm39)	V10A	probably benign	Het
Rtn4rl2	T	C	2: 84,711,036 (GRCm39)	N70S	probably damaging	Het
Scaper	A	T	9: 55,766,326 (GRCm39)	C483*	probably null	Het
Sema4a	T	A	3: 88,360,405 (GRCm39)	Q58L	possibly damaging	Het
Slf1	T	C	13: 77,249,067 (GRCm39)		probably null	Het
Sycp1	G	T	3: 102,822,561 (GRCm39)	N364K	probably benign	Het
Tenm4	T	C	7: 96,545,482 (GRCm39)		probably benign	Het
Tnfaip2	A	G	12: 111,417,141 (GRCm39)	T537A	probably damaging	Het
Trappc12	A	G	12: 28,753,596 (GRCm39)	I573T	possibly damaging	Het
Ugt2b38	G	A	5: 87,559,632 (GRCm39)	T420I	probably damaging	Het
Ulk1	A	T	5: 110,937,411 (GRCm39)		probably benign	Het
Unc80	G	A	1: 66,688,103 (GRCm39)	C2367Y	possibly damaging	Het
Usp7	C	A	16: 8,521,366 (GRCm39)	G135C	probably damaging	Het
Vmn2r103	A	G	17: 20,014,189 (GRCm39)	Y327C	probably damaging	Het
Vmn2r28	T	A	7: 5,491,026 (GRCm39)	H407L	probably damaging	Het
Zfp804a	A	C	2: 82,089,506 (GRCm39)	T1112P	probably damaging	Het
Zfr2	A	G	10: 81,081,242 (GRCm39)	K431E	probably damaging	Het
Zfy1	A	T	Y: 725,850 (GRCm39)	Y638*	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGAGCCGAATACCGAAAACAGTG -3'
(R):5'- AATTGGACAGTACGGCCACACG -3'

Sequencing Primer
(F):5'- gcctgatgccctcttctg -3'
(R):5'- GTCACTCAGCCAAAGTTTGTG -3'

Posted On

2013-10-16