Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01626:Gucy2e'

92752

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: 0.348) question?

Stock #

IGL01626

Quality Score

Status

Chromosome

Chromosomal Location

69218117-69237036 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69232855 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 406 (V406A)

Ref Sequence

ENSEMBL: ENSMUSP00000104305 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021259
AA Change: V406A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: V406A

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

possibly damaging
Transcript: ENSMUST00000108664
AA Change: V406A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: V406A

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

possibly damaging
Transcript: ENSMUST00000108665
AA Change: V406A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: V406A

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 60,019,174	D188G	probably damaging	Het
AI314180	G	A	4: 58,832,814		probably benign	Het
Aoc1	A	G	6: 48,906,531	Y447C	probably damaging	Het
Brd1	A	T	15: 88,700,887	L915M	probably damaging	Het
Cacna2d3	T	A	14: 28,943,607	E152D	possibly damaging	Het
Dnase2b	A	G	3: 146,584,616		probably null	Het
Fat4	T	C	3: 38,951,032	V1860A	probably damaging	Het
Fbxl5	C	A	5: 43,758,705	G455V	probably benign	Het
Fpr-rs4	G	A	17: 18,022,231	V167M	probably damaging	Het
Fut7	C	A	2: 25,425,331	Y153*	probably null	Het
Gnptab	A	G	10: 88,437,495	T1045A	probably damaging	Het
Gucy1a1	T	A	3: 82,108,619	D354V	probably damaging	Het
Herc2	T	C	7: 56,085,142	F160S	probably benign	Het
Ice2	T	G	9: 69,407,332	V42G	probably benign	Het
L3mbtl4	A	G	17: 68,630,202	Y406C	probably damaging	Het
Lepr	C	T	4: 101,733,534	T103I	probably benign	Het
Ly75	T	A	2: 60,301,015	M1589L	probably benign	Het
Map4k3	A	G	17: 80,605,809	V644A	probably damaging	Het
Micall1	A	G	15: 79,130,512	D696G	possibly damaging	Het
Muc4	T	C	16: 32,736,402	V8A	possibly damaging	Het
Myo1h	A	G	5: 114,314,966	D9G	probably damaging	Het
Nop14	T	A	5: 34,649,345	K472*	probably null	Het
Npat	T	A	9: 53,556,571	D275E	possibly damaging	Het
Nt5c1b	A	G	12: 10,374,798	T115A	probably benign	Het
Olfr429	A	G	1: 174,089,556	N172S	probably damaging	Het
Olfr709-ps1	A	T	7: 106,927,420	I13N	probably benign	Het
Pnpla7	T	A	2: 25,050,893	S1086T	possibly damaging	Het
Pold1	C	T	7: 44,533,372		probably null	Het
Ppfia1	A	G	7: 144,481,719	F1165L	probably benign	Het
Prlr	T	A	15: 10,328,718	D426E	probably benign	Het
Ptgs2	G	A	1: 150,103,727	R231H	probably damaging	Het
Rorc	A	G	3: 94,388,787	D91G	probably damaging	Het
Scaper	C	T	9: 55,912,051	V127M	possibly damaging	Het
Sema3g	A	T	14: 31,221,727	Y188F	probably damaging	Het
Slc45a3	G	T	1: 131,978,987	A400S	possibly damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Spg11	T	A	2: 122,060,971	H1973L	probably damaging	Het
Srgap3	A	G	6: 112,773,648	Y359H	probably damaging	Het
Stx16	T	G	2: 174,094,020	I248S	probably damaging	Het
Sytl3	A	G	17: 6,735,440	R287G	probably damaging	Het
Tiam1	T	C	16: 89,812,968	T82A	probably damaging	Het
Trpm1	T	C	7: 64,268,889	L659P	probably damaging	Het
Ttc13	G	A	8: 124,673,738		probably benign	Het
Unc80	T	C	1: 66,551,054		probably null	Het
Vldlr	G	T	19: 27,243,773	R613L	probably damaging	Het
Wdr77	C	T	3: 105,959,686	R35*	probably null	Het
Zc3h14	T	G	12: 98,779,186	I478R	possibly damaging	Het
Zfp366	A	G	13: 99,228,412	H27R	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
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
IGL03181:Gucy2e	APN	11	69230182	splice site	probably benign
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
R8284:Gucy2e	UTSW	11	69232351	missense	probably benign
R8479:Gucy2e	UTSW	11	69232963	missense	probably benign	0.22
R8537:Gucy2e	UTSW	11	69236353	missense	probably benign	0.01
R8806:Gucy2e	UTSW	11	69236116	missense	probably benign
X0025:Gucy2e	UTSW	11	69226244	missense	probably damaging	1.00
Z1186:Gucy2e	UTSW	11	69223605	missense	probably benign	0.00
Z1186:Gucy2e	UTSW	11	69236603	missense	unknown
Z1187:Gucy2e	UTSW	11	69223605	missense	probably benign	0.00
Z1187:Gucy2e	UTSW	11	69236603	missense	unknown
Z1188:Gucy2e	UTSW	11	69223605	missense	probably benign	0.00
Z1188:Gucy2e	UTSW	11	69236603	missense	unknown
Z1189:Gucy2e	UTSW	11	69223605	missense	probably benign	0.00
Z1189:Gucy2e	UTSW	11	69236603	missense	unknown
Z1190:Gucy2e	UTSW	11	69223605	missense	probably benign	0.00
Z1190:Gucy2e	UTSW	11	69236603	missense	unknown
Z1191:Gucy2e	UTSW	11	69223605	missense	probably benign	0.00
Z1191:Gucy2e	UTSW	11	69236603	missense	unknown
Z1192:Gucy2e	UTSW	11	69223605	missense	probably benign	0.00
Z1192:Gucy2e	UTSW	11	69236603	missense	unknown

Posted On

2013-12-09