Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03181:Gucy2e'

412269

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gucy2e

Ensembl Gene

ENSMUSG00000020890

Gene Name

guanylate cyclase 2e

Synonyms

GC1, GC-E, ROS-GC1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

IGL03181

Quality Score

Status

Chromosome

Chromosomal Location

69218117-69237036 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 69230182 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021259] [ENSMUST00000108664] [ENSMUST00000108665]

Predicted Effect

probably benign
Transcript: ENSMUST00000021259

SMART Domains

Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
low complexity region	36	55	N/A	INTRINSIC
Pfam:ANF_receptor	75	403	5.3e-37	PFAM
transmembrane domain	468	490	N/A	INTRINSIC
Pfam:Pkinase	557	807	1.1e-24	PFAM
Pfam:Pkinase_Tyr	560	807	2e-29	PFAM
CYCc	847	1050	7.78e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108664

SMART Domains

Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
low complexity region	36	55	N/A	INTRINSIC
Pfam:ANF_receptor	75	403	2.4e-40	PFAM
transmembrane domain	468	490	N/A	INTRINSIC
Pfam:Pkinase	560	807	9.5e-23	PFAM
Pfam:Pkinase_Tyr	560	807	7.7e-29	PFAM
CYCc	847	1050	7.78e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108665

SMART Domains

Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
low complexity region	36	55	N/A	INTRINSIC
Pfam:ANF_receptor	75	403	5.3e-37	PFAM
transmembrane domain	468	490	N/A	INTRINSIC
Pfam:Pkinase	557	807	1.1e-24	PFAM
Pfam:Pkinase_Tyr	560	807	2e-29	PFAM
CYCc	847	1050	7.78e-104	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155457

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 retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retinal cone cell morphology, impaired cone and rod electrophysiology, and severe retinal cone cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,193,373	V1319A	possibly damaging	Het
Abcb11	T	A	2: 69,328,008		probably benign	Het
Acss3	G	T	10: 107,053,388	H190Q	probably damaging	Het
Adra2b	C	T	2: 127,363,983	T140I	probably benign	Het
Arl1	T	A	10: 88,743,059		probably benign	Het
Atp4a	T	G	7: 30,724,704	C968G	probably benign	Het
BC003331	G	T	1: 150,363,539	P378T	probably benign	Het
Clec4n	T	C	6: 123,230,515	C13R	possibly damaging	Het
Cnot3	T	C	7: 3,653,248	Y178H	probably damaging	Het
Col18a1	G	A	10: 77,055,698	R1560C	probably damaging	Het
Cyp2c66	T	C	19: 39,142,039	F106S	probably benign	Het
Dcn	A	C	10: 97,483,452	E30D	probably damaging	Het
Dennd5a	A	T	7: 109,933,658	F302I	probably damaging	Het
Dip2b	T	C	15: 100,215,207	V1501A	probably damaging	Het
Dnah10	C	T	5: 124,748,457	P687S	probably damaging	Het
Drc7	A	G	8: 95,068,127	T387A	probably benign	Het
Dusp7	T	A	9: 106,373,810	M378K	probably damaging	Het
Ftmt	T	C	18: 52,331,881	Y90H	probably damaging	Het
Glb1l3	T	C	9: 26,828,363		probably null	Het
Gm884	A	T	11: 103,616,416		probably benign	Het
Gpatch3	T	C	4: 133,578,122	F223L	probably damaging	Het
Gpr158	T	A	2: 21,783,161	F538I	probably benign	Het
Hadha	A	G	5: 30,121,526	V566A	probably benign	Het
Hectd4	A	T	5: 121,353,958	S3787C	possibly damaging	Het
Hnrnpk	A	T	13: 58,394,316	D265E	possibly damaging	Het
Hspbp1	G	A	7: 4,684,364	R83W	probably damaging	Het
Hspg2	T	A	4: 137,515,937	L758Q	probably damaging	Het
Ippk	A	G	13: 49,441,987	Y180C	probably damaging	Het
Itpr3	T	A	17: 27,111,268	M1620K	probably benign	Het
Klf7	T	C	1: 64,035,726	K298R	possibly damaging	Het
Ktn1	A	T	14: 47,733,284	T1229S	probably benign	Het
Lefty2	A	G	1: 180,897,550	N282D	probably damaging	Het
Nsd1	G	A	13: 55,247,045	E820K	probably damaging	Het
Obsl1	C	A	1: 75,492,584	A1238S	probably benign	Het
Pias2	T	C	18: 77,133,242	I391T	possibly damaging	Het
Ppp1r10	G	T	17: 35,930,624	G764*	probably null	Het
Ptpra	T	C	2: 130,517,787	F158L	probably damaging	Het
Recql	T	C	6: 142,378,192	S59G	probably benign	Het
Rrp1b	A	T	17: 32,057,176	I566F	probably benign	Het
Sh3yl1	G	A	12: 30,941,980	D145N	possibly damaging	Het
Slc35f5	T	A	1: 125,585,185	I52N	probably damaging	Het
Slc51b	A	G	9: 65,415,165		probably null	Het
Smpd4	C	T	16: 17,625,807	Q72*	probably null	Het
Spata6	A	G	4: 111,822,766	D391G	probably benign	Het
Tnc	T	A	4: 63,967,306	D1853V	possibly damaging	Het
Tnks1bp1	C	T	2: 85,062,714	T333I	probably benign	Het
Vmn2r100	T	A	17: 19,531,945	I813N	probably damaging	Het
Vwa8	T	A	14: 79,009,250	H677Q	probably benign	Het
Washc4	T	C	10: 83,591,019	Y1064H	probably damaging	Het
Wdr82	T	A	9: 106,186,415	I272K	probably benign	Het
Zc3h12a	T	C	4: 125,119,304	Y589C	probably damaging	Het

Other mutations in Gucy2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Gucy2e	APN	11	69223097	missense	possibly damaging	0.88
IGL01626:Gucy2e	APN	11	69232855	missense	possibly damaging	0.80
IGL01756:Gucy2e	APN	11	69232852	missense	probably damaging	0.98
IGL02030:Gucy2e	APN	11	69223816	missense	probably damaging	1.00
IGL02095:Gucy2e	APN	11	69232787	missense	possibly damaging	0.48
IGL02387:Gucy2e	APN	11	69236116	missense	probably benign
IGL02622:Gucy2e	APN	11	69225031	missense	probably damaging	1.00
IGL02660:Gucy2e	APN	11	69232007	missense	probably benign	0.18
R0110:Gucy2e	UTSW	11	69235576	missense	probably benign	0.00
R0115:Gucy2e	UTSW	11	69236632	missense	unknown
R0450:Gucy2e	UTSW	11	69235576	missense	probably benign	0.00
R0469:Gucy2e	UTSW	11	69235576	missense	probably benign	0.00
R0497:Gucy2e	UTSW	11	69224159	missense	probably damaging	1.00
R0510:Gucy2e	UTSW	11	69235576	missense	probably benign	0.00
R1252:Gucy2e	UTSW	11	69235659	missense	probably benign
R1535:Gucy2e	UTSW	11	69226244	missense	probably damaging	1.00
R1700:Gucy2e	UTSW	11	69232058	missense	probably benign
R2035:Gucy2e	UTSW	11	69227532	missense	probably benign	0.12
R2179:Gucy2e	UTSW	11	69228578	splice site	probably null
R3622:Gucy2e	UTSW	11	69225051	missense	probably damaging	1.00
R4212:Gucy2e	UTSW	11	69228123	missense	probably damaging	0.99
R4600:Gucy2e	UTSW	11	69236168	missense	possibly damaging	0.71
R4790:Gucy2e	UTSW	11	69228448	missense	probably damaging	1.00
R5170:Gucy2e	UTSW	11	69235570	missense	probably damaging	0.97
R5174:Gucy2e	UTSW	11	69236566	missense	probably benign
R5440:Gucy2e	UTSW	11	69223646	missense	probably damaging	0.98
R5586:Gucy2e	UTSW	11	69226256	missense	probably damaging	1.00
R5668:Gucy2e	UTSW	11	69228381	missense	probably damaging	1.00
R5820:Gucy2e	UTSW	11	69232696	missense	probably benign	0.36
R5826:Gucy2e	UTSW	11	69236033	missense	possibly damaging	0.53
R6169:Gucy2e	UTSW	11	69236104	missense	probably benign	0.19
R6544:Gucy2e	UTSW	11	69235657	missense	probably benign
R6815:Gucy2e	UTSW	11	69232001	missense	possibly damaging	0.86
R7020:Gucy2e	UTSW	11	69232793	missense	probably benign	0.00
R7592:Gucy2e	UTSW	11	69223324	critical splice donor site	probably null
R7658:Gucy2e	UTSW	11	69226229	nonsense	probably null
R7812:Gucy2e	UTSW	11	69226243	missense	probably damaging	1.00
X0025:Gucy2e	UTSW	11	69226244	missense	probably damaging	1.00

Posted On

2016-08-02