Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02030:Gucy2e'

184341

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

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

IGL02030

Quality Score

Status

Chromosome

Chromosomal Location

69218117-69237036 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69223816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1002 (F1002S)

Ref Sequence

ENSEMBL: ENSMUSP00000104305 (fasta)

Gene Model

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

AlphaFold

P52785

Predicted Effect

probably damaging
Transcript: ENSMUST00000021259
AA Change: F1002S

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

SMART Domains

Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: F1002S

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 damaging
Transcript: ENSMUST00000108664
AA Change: F1002S

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

SMART Domains

Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: F1002S

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 damaging
Transcript: ENSMUST00000108665
AA Change: F1002S

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

SMART Domains

Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: F1002S

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 43,568,857 (GRCm38)	D532G	probably benign	Het
Adam29	C	T	8: 55,872,122 (GRCm38)	M432I	probably benign	Het
Cbs	A	G	17: 31,625,489 (GRCm38)		probably null	Het
Ccer1	A	G	10: 97,693,610 (GRCm38)	Y45C	unknown	Het
Clu	G	A	14: 65,975,791 (GRCm38)	G209S	probably benign	Het
Ddx17	T	C	15: 79,530,376 (GRCm38)	D530G	probably benign	Het
Ddx4	T	C	13: 112,624,777 (GRCm38)		probably benign	Het
Fry	C	T	5: 150,471,618 (GRCm38)		probably benign	Het
Fut10	C	T	8: 31,235,978 (GRCm38)	Q254*	probably null	Het
Hsd3b6	T	C	3: 98,806,173 (GRCm38)	Y270C	probably benign	Het
Jup	A	G	11: 100,376,991 (GRCm38)	I502T	probably damaging	Het
Lrrc71	T	A	3: 87,745,224 (GRCm38)		probably null	Het
Mei1	T	C	15: 82,115,743 (GRCm38)	V1127A	probably benign	Het
Ncstn	A	T	1: 172,072,457 (GRCm38)		probably benign	Het
Nin	T	C	12: 70,045,268 (GRCm38)	R756G	probably damaging	Het
Notch2	C	A	3: 98,099,421 (GRCm38)		probably null	Het
Oacyl	T	C	18: 65,737,910 (GRCm38)	V394A	probably damaging	Het
Olfr1444	T	C	19: 12,862,435 (GRCm38)	F220S	probably benign	Het
Olfr348	A	G	2: 36,787,398 (GRCm38)	Y291C	probably damaging	Het
Olfr524	A	G	7: 140,202,632 (GRCm38)	I46T	probably damaging	Het
Parn	A	G	16: 13,664,650 (GRCm38)		probably null	Het
Rspo3	T	G	10: 29,500,048 (GRCm38)	E173A	probably damaging	Het
Rusc2	T	A	4: 43,416,095 (GRCm38)	V467E	possibly damaging	Het
Sema7a	G	A	9: 57,955,140 (GRCm38)	E209K	possibly damaging	Het
Uchl4	T	C	9: 64,235,629 (GRCm38)	S131P	probably benign	Het
Usp54	T	C	14: 20,565,946 (GRCm38)	I769V	probably benign	Het
Xirp2	T	C	2: 67,508,981 (GRCm38)	M522T	probably benign	Het

Other mutations in Gucy2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Gucy2e	APN	11	69,223,097 (GRCm38)	missense	possibly damaging	0.88
IGL01626:Gucy2e	APN	11	69,232,855 (GRCm38)	missense	possibly damaging	0.80
IGL01756:Gucy2e	APN	11	69,232,852 (GRCm38)	missense	probably damaging	0.98
IGL02095:Gucy2e	APN	11	69,232,787 (GRCm38)	missense	possibly damaging	0.48
IGL02387:Gucy2e	APN	11	69,236,116 (GRCm38)	missense	probably benign
IGL02622:Gucy2e	APN	11	69,225,031 (GRCm38)	missense	probably damaging	1.00
IGL02660:Gucy2e	APN	11	69,232,007 (GRCm38)	missense	probably benign	0.18
IGL03181:Gucy2e	APN	11	69,230,182 (GRCm38)	splice site	probably benign
R0110:Gucy2e	UTSW	11	69,235,576 (GRCm38)	missense	probably benign	0.00
R0115:Gucy2e	UTSW	11	69,236,632 (GRCm38)	missense	unknown
R0450:Gucy2e	UTSW	11	69,235,576 (GRCm38)	missense	probably benign	0.00
R0469:Gucy2e	UTSW	11	69,235,576 (GRCm38)	missense	probably benign	0.00
R0497:Gucy2e	UTSW	11	69,224,159 (GRCm38)	missense	probably damaging	1.00
R0510:Gucy2e	UTSW	11	69,235,576 (GRCm38)	missense	probably benign	0.00
R1252:Gucy2e	UTSW	11	69,235,659 (GRCm38)	missense	probably benign
R1535:Gucy2e	UTSW	11	69,226,244 (GRCm38)	missense	probably damaging	1.00
R1700:Gucy2e	UTSW	11	69,232,058 (GRCm38)	missense	probably benign
R2035:Gucy2e	UTSW	11	69,227,532 (GRCm38)	missense	probably benign	0.12
R2179:Gucy2e	UTSW	11	69,228,578 (GRCm38)	splice site	probably null
R3622:Gucy2e	UTSW	11	69,225,051 (GRCm38)	missense	probably damaging	1.00
R4212:Gucy2e	UTSW	11	69,228,123 (GRCm38)	missense	probably damaging	0.99
R4600:Gucy2e	UTSW	11	69,236,168 (GRCm38)	missense	possibly damaging	0.71
R4790:Gucy2e	UTSW	11	69,228,448 (GRCm38)	missense	probably damaging	1.00
R5170:Gucy2e	UTSW	11	69,235,570 (GRCm38)	missense	probably damaging	0.97
R5174:Gucy2e	UTSW	11	69,236,566 (GRCm38)	missense	probably benign
R5440:Gucy2e	UTSW	11	69,223,646 (GRCm38)	missense	probably damaging	0.98
R5586:Gucy2e	UTSW	11	69,226,256 (GRCm38)	missense	probably damaging	1.00
R5668:Gucy2e	UTSW	11	69,228,381 (GRCm38)	missense	probably damaging	1.00
R5820:Gucy2e	UTSW	11	69,232,696 (GRCm38)	missense	probably benign	0.36
R5826:Gucy2e	UTSW	11	69,236,033 (GRCm38)	missense	possibly damaging	0.53
R6169:Gucy2e	UTSW	11	69,236,104 (GRCm38)	missense	probably benign	0.19
R6544:Gucy2e	UTSW	11	69,235,657 (GRCm38)	missense	probably benign
R6815:Gucy2e	UTSW	11	69,232,001 (GRCm38)	missense	possibly damaging	0.86
R7020:Gucy2e	UTSW	11	69,232,793 (GRCm38)	missense	probably benign	0.00
R7592:Gucy2e	UTSW	11	69,223,324 (GRCm38)	critical splice donor site	probably null
R7658:Gucy2e	UTSW	11	69,226,229 (GRCm38)	nonsense	probably null
R7812:Gucy2e	UTSW	11	69,226,243 (GRCm38)	missense	probably damaging	1.00
R8284:Gucy2e	UTSW	11	69,232,351 (GRCm38)	missense	probably benign
R8479:Gucy2e	UTSW	11	69,232,963 (GRCm38)	missense	probably benign	0.22
R8537:Gucy2e	UTSW	11	69,236,353 (GRCm38)	missense	probably benign	0.01
R8806:Gucy2e	UTSW	11	69,236,116 (GRCm38)	missense	probably benign
R9030:Gucy2e	UTSW	11	69,225,001 (GRCm38)	missense	probably damaging	1.00
R9192:Gucy2e	UTSW	11	69,236,477 (GRCm38)	missense	probably damaging	1.00
R9217:Gucy2e	UTSW	11	69,235,952 (GRCm38)	missense	possibly damaging	0.63
R9304:Gucy2e	UTSW	11	69,235,734 (GRCm38)	missense	probably benign	0.20
R9566:Gucy2e	UTSW	11	69,228,121 (GRCm38)	missense	probably damaging	1.00
R9784:Gucy2e	UTSW	11	69,232,690 (GRCm38)	missense	probably benign
X0025:Gucy2e	UTSW	11	69,226,244 (GRCm38)	missense	probably damaging	1.00
Z1186:Gucy2e	UTSW	11	69,236,603 (GRCm38)	missense	unknown
Z1186:Gucy2e	UTSW	11	69,223,605 (GRCm38)	missense	probably benign	0.00
Z1187:Gucy2e	UTSW	11	69,236,603 (GRCm38)	missense	unknown
Z1187:Gucy2e	UTSW	11	69,223,605 (GRCm38)	missense	probably benign	0.00
Z1188:Gucy2e	UTSW	11	69,236,603 (GRCm38)	missense	unknown
Z1188:Gucy2e	UTSW	11	69,223,605 (GRCm38)	missense	probably benign	0.00
Z1189:Gucy2e	UTSW	11	69,236,603 (GRCm38)	missense	unknown
Z1189:Gucy2e	UTSW	11	69,223,605 (GRCm38)	missense	probably benign	0.00
Z1190:Gucy2e	UTSW	11	69,236,603 (GRCm38)	missense	unknown
Z1190:Gucy2e	UTSW	11	69,223,605 (GRCm38)	missense	probably benign	0.00
Z1191:Gucy2e	UTSW	11	69,236,603 (GRCm38)	missense	unknown
Z1191:Gucy2e	UTSW	11	69,223,605 (GRCm38)	missense	probably benign	0.00
Z1192:Gucy2e	UTSW	11	69,236,603 (GRCm38)	missense	unknown
Z1192:Gucy2e	UTSW	11	69,223,605 (GRCm38)	missense	probably benign	0.00

Posted On

2014-05-07