Mutagenetix > Incidental Mutation

Incidental Mutation 'R7658:Gucy2e'

591374

Institutional Source

Beutler Lab

Gene Symbol

Gucy2e

Ensembl Gene

ENSMUSG00000020890

Gene Name

guanylate cyclase 2e

Synonyms

GC1, ROS-GC1, GC-E

MMRRC Submission

045703-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R7658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69108943-69127862 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 69117055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 789 (Q789*)

Ref Sequence

ENSEMBL: ENSMUSP00000021259 (fasta)

Gene Model

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

AlphaFold

P52785

Predicted Effect

probably null
Transcript: ENSMUST00000021259
AA Change: Q789*

SMART Domains

Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: Q789*

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 null
Transcript: ENSMUST00000108664
AA Change: Q789*

SMART Domains

Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: Q789*

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 null
Transcript: ENSMUST00000108665
AA Change: Q789*

SMART Domains

Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: Q789*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	G	T	16: 88,860,618 (GRCm39)	S72Y	unknown	Het
Abca8b	T	A	11: 109,826,543 (GRCm39)	K1568N	probably benign	Het
Adcy6	T	A	15: 98,493,948 (GRCm39)	Y865F	probably benign	Het
Adgrf3	A	T	5: 30,402,204 (GRCm39)	V608D	probably benign	Het
Agbl1	G	T	7: 76,416,117 (GRCm39)	A965S	unknown	Het
Agbl3	C	T	6: 34,809,443 (GRCm39)	P690L	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Amt	A	C	9: 108,174,430 (GRCm39)	H65P	probably damaging	Het
Ankrd11	T	A	8: 123,620,403 (GRCm39)	T1150S	probably benign	Het
Arhgap15	A	C	2: 44,032,280 (GRCm39)	H288P	probably benign	Het
Arhgap39	A	T	15: 76,621,617 (GRCm39)	M328K	probably benign	Het
Arhgef12	T	C	9: 42,903,832 (GRCm39)	K743R	probably damaging	Het
Atg2a	T	G	19: 6,301,293 (GRCm39)	V789G	probably damaging	Het
Ccdc54	T	C	16: 50,410,844 (GRCm39)	T141A	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdh5	T	C	8: 104,856,033 (GRCm39)		probably null	Het
Cdkl3	T	C	11: 51,918,009 (GRCm39)	V404A	not run	Het
Chrm2	A	T	6: 36,500,184 (GRCm39)	I14F	probably benign	Het
Cnbp	T	C	6: 87,822,258 (GRCm39)	K89E	possibly damaging	Het
Cntn6	T	A	6: 104,627,444 (GRCm39)	D92E	probably benign	Het
Col15a1	T	C	4: 47,245,591 (GRCm39)	F114S	possibly damaging	Het
Csrnp1	A	G	9: 119,801,469 (GRCm39)	F530S	probably benign	Het
Dcun1d3	C	T	7: 119,456,891 (GRCm39)	V274M	probably damaging	Het
Dph2	T	A	4: 117,747,478 (GRCm39)	H302L	possibly damaging	Het
Fam162a	A	T	16: 35,866,770 (GRCm39)	Y118*	probably null	Het
Fam186a	A	G	15: 99,837,725 (GRCm39)	Y2840H	unknown	Het
Fto	A	G	8: 92,392,950 (GRCm39)	K466E	probably benign	Het
Gal	T	A	19: 3,463,309 (GRCm39)	Y41F	probably damaging	Het
Gigyf2	A	T	1: 87,346,860 (GRCm39)	L620F	unknown	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Glud1	A	T	14: 34,033,114 (GRCm39)	E87V	probably benign	Het
Gm21190	T	G	5: 15,732,923 (GRCm39)	E94A	possibly damaging	Het
Gm5592	T	C	7: 40,938,134 (GRCm39)	V472A	probably benign	Het
Gpc5	T	A	14: 115,665,620 (GRCm39)	N481K	possibly damaging	Het
Gpn2	A	G	4: 133,318,687 (GRCm39)	E304G	probably benign	Het
Gsdmc2	T	C	15: 63,696,903 (GRCm39)	T423A	probably damaging	Het
Gxylt2	T	A	6: 100,760,104 (GRCm39)	V213E	probably damaging	Het
Ighv1-75	G	A	12: 115,797,731 (GRCm39)	L64F	possibly damaging	Het
Il17re	T	C	6: 113,435,943 (GRCm39)	C30R	probably benign	Het
Il7	G	T	3: 7,669,142 (GRCm39)	D31E	probably benign	Het
Ints4	T	C	7: 97,178,460 (GRCm39)	Y687H	possibly damaging	Het
Kdelr1	T	G	7: 45,532,401 (GRCm39)	V202G	probably benign	Het
Khnyn	C	A	14: 56,124,596 (GRCm39)	Y283*	probably null	Het
Klf11	T	C	12: 24,703,670 (GRCm39)	V52A	probably damaging	Het
Klhl7	A	G	5: 24,346,284 (GRCm39)	N310S	probably benign	Het
Krt27	A	T	11: 99,240,312 (GRCm39)	L202Q	possibly damaging	Het
Lce1d	A	G	3: 92,593,354 (GRCm39)	C20R	unknown	Het
Lim2	A	T	7: 43,083,054 (GRCm39)	I80F	possibly damaging	Het
Lrrk2	T	A	15: 91,584,561 (GRCm39)	F326Y	possibly damaging	Het
Lyst	A	T	13: 13,905,061 (GRCm39)	Y3246F	possibly damaging	Het
Mafb	T	A	2: 160,208,355 (GRCm39)	H81L	possibly damaging	Het
Mfsd5	G	A	15: 102,189,312 (GRCm39)	R228H	probably benign	Het
Mmp1b	A	T	9: 7,386,675 (GRCm39)	F150I	possibly damaging	Het
Mthfd1	T	A	12: 76,317,209 (GRCm39)	L20Q	probably damaging	Het
Mxra8	A	G	4: 155,927,420 (GRCm39)	T402A	probably benign	Het
Ndc80	A	T	17: 71,815,658 (GRCm39)	L376M	probably damaging	Het
Nsd1	A	T	13: 55,425,452 (GRCm39)	R1536S	probably damaging	Het
Nup210l	C	A	3: 90,119,300 (GRCm39)	H1874Q	probably benign	Het
Nyap1	T	C	5: 137,731,236 (GRCm39)	H776R	probably benign	Het
Patj	C	A	4: 98,576,416 (GRCm39)	H1773Q	probably damaging	Het
Pax8	T	A	2: 24,326,523 (GRCm39)	T280S	probably benign	Het
Pcdhb19	A	G	18: 37,632,034 (GRCm39)	T610A	probably damaging	Het
Pde2a	A	G	7: 101,160,788 (GRCm39)	D919G	possibly damaging	Het
Pdk2	T	A	11: 94,919,791 (GRCm39)	Y240F	probably damaging	Het
Peg3	A	T	7: 6,712,609 (GRCm39)	I871N	probably damaging	Het
Pex1	A	T	5: 3,646,244 (GRCm39)		probably benign	Het
Pgm2l1	C	T	7: 99,899,535 (GRCm39)	R50W	probably damaging	Het
Phkg1	T	A	5: 129,894,764 (GRCm39)	K262N	probably damaging	Het
Pik3r4	A	G	9: 105,521,710 (GRCm39)	E92G	probably damaging	Het
Prmt6	A	T	3: 110,157,701 (GRCm39)	V196E	possibly damaging	Het
Ptprn2	T	G	12: 116,685,739 (GRCm39)	M66R	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Recql5	A	T	11: 115,814,102 (GRCm39)	S348T	probably damaging	Het
Rfk	T	G	19: 17,376,046 (GRCm39)		probably null	Het
Ro60	T	C	1: 143,646,611 (GRCm39)	T45A	probably damaging	Het
Selenbp1	A	T	3: 94,851,413 (GRCm39)	M389L	probably benign	Het
Sipa1l2	G	A	8: 126,219,029 (GRCm39)	R103C	probably benign	Het
Slc10a6	T	A	5: 103,777,056 (GRCm39)	S15C	probably damaging	Het
Slc12a2	G	T	18: 58,065,596 (GRCm39)	V944L	probably benign	Het
Slc16a11	T	A	11: 70,106,143 (GRCm39)	L127Q	possibly damaging	Het
Spef1l	T	C	7: 139,556,531 (GRCm39)	N152S	probably benign	Het
St6gal1	A	G	16: 23,174,978 (GRCm39)	Y272C	probably damaging	Het
Stab2	C	A	10: 86,816,999 (GRCm39)	V133F	probably benign	Het
Stradb	G	A	1: 59,031,885 (GRCm39)	V266I	probably damaging	Het
Tmem150b	A	G	7: 4,723,758 (GRCm39)	W140R	probably benign	Het
Tnnt3	A	T	7: 142,065,833 (GRCm39)	K157*	probably null	Het
Ttn	T	G	2: 76,554,113 (GRCm39)	K30863N	probably damaging	Het
Vldlr	G	A	19: 27,220,536 (GRCm39)	R592H	probably benign	Het
Vmn1r12	A	T	6: 57,135,883 (GRCm39)		probably benign	Het
Vmn2r63	A	C	7: 42,574,693 (GRCm39)	S519R	probably damaging	Het
Zbtb22	G	C	17: 34,137,471 (GRCm39)	E539Q	probably damaging	Het
Zbtb44	G	A	9: 30,965,375 (GRCm39)	A262T	probably benign	Het
Zfp280d	A	T	9: 72,231,354 (GRCm39)	N455I	probably damaging	Het
Zfp287	T	C	11: 62,616,089 (GRCm39)	N201D	probably damaging	Het
Zfp988	T	C	4: 147,416,751 (GRCm39)	L395P	probably damaging	Het

Other mutations in Gucy2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Gucy2e	APN	11	69,113,923 (GRCm39)	missense	possibly damaging	0.88
IGL01626:Gucy2e	APN	11	69,123,681 (GRCm39)	missense	possibly damaging	0.80
IGL01756:Gucy2e	APN	11	69,123,678 (GRCm39)	missense	probably damaging	0.98
IGL02030:Gucy2e	APN	11	69,114,642 (GRCm39)	missense	probably damaging	1.00
IGL02095:Gucy2e	APN	11	69,123,613 (GRCm39)	missense	possibly damaging	0.48
IGL02387:Gucy2e	APN	11	69,126,942 (GRCm39)	missense	probably benign
IGL02622:Gucy2e	APN	11	69,115,857 (GRCm39)	missense	probably damaging	1.00
IGL02660:Gucy2e	APN	11	69,122,833 (GRCm39)	missense	probably benign	0.18
IGL03181:Gucy2e	APN	11	69,121,008 (GRCm39)	splice site	probably benign
R0110:Gucy2e	UTSW	11	69,126,402 (GRCm39)	missense	probably benign	0.00
R0115:Gucy2e	UTSW	11	69,127,458 (GRCm39)	missense	unknown
R0450:Gucy2e	UTSW	11	69,126,402 (GRCm39)	missense	probably benign	0.00
R0469:Gucy2e	UTSW	11	69,126,402 (GRCm39)	missense	probably benign	0.00
R0497:Gucy2e	UTSW	11	69,114,985 (GRCm39)	missense	probably damaging	1.00
R0510:Gucy2e	UTSW	11	69,126,402 (GRCm39)	missense	probably benign	0.00
R1252:Gucy2e	UTSW	11	69,126,485 (GRCm39)	missense	probably benign
R1535:Gucy2e	UTSW	11	69,117,070 (GRCm39)	missense	probably damaging	1.00
R1700:Gucy2e	UTSW	11	69,122,884 (GRCm39)	missense	probably benign
R2035:Gucy2e	UTSW	11	69,118,358 (GRCm39)	missense	probably benign	0.12
R2179:Gucy2e	UTSW	11	69,119,404 (GRCm39)	splice site	probably null
R3622:Gucy2e	UTSW	11	69,115,877 (GRCm39)	missense	probably damaging	1.00
R4212:Gucy2e	UTSW	11	69,118,949 (GRCm39)	missense	probably damaging	0.99
R4600:Gucy2e	UTSW	11	69,126,994 (GRCm39)	missense	possibly damaging	0.71
R4790:Gucy2e	UTSW	11	69,119,274 (GRCm39)	missense	probably damaging	1.00
R5170:Gucy2e	UTSW	11	69,126,396 (GRCm39)	missense	probably damaging	0.97
R5174:Gucy2e	UTSW	11	69,127,392 (GRCm39)	missense	probably benign
R5440:Gucy2e	UTSW	11	69,114,472 (GRCm39)	missense	probably damaging	0.98
R5586:Gucy2e	UTSW	11	69,117,082 (GRCm39)	missense	probably damaging	1.00
R5668:Gucy2e	UTSW	11	69,119,207 (GRCm39)	missense	probably damaging	1.00
R5820:Gucy2e	UTSW	11	69,123,522 (GRCm39)	missense	probably benign	0.36
R5826:Gucy2e	UTSW	11	69,126,859 (GRCm39)	missense	possibly damaging	0.53
R6169:Gucy2e	UTSW	11	69,126,930 (GRCm39)	missense	probably benign	0.19
R6544:Gucy2e	UTSW	11	69,126,483 (GRCm39)	missense	probably benign
R6815:Gucy2e	UTSW	11	69,122,827 (GRCm39)	missense	possibly damaging	0.86
R7020:Gucy2e	UTSW	11	69,123,619 (GRCm39)	missense	probably benign	0.00
R7592:Gucy2e	UTSW	11	69,114,150 (GRCm39)	critical splice donor site	probably null
R7812:Gucy2e	UTSW	11	69,117,069 (GRCm39)	missense	probably damaging	1.00
R8284:Gucy2e	UTSW	11	69,123,177 (GRCm39)	missense	probably benign
R8479:Gucy2e	UTSW	11	69,123,789 (GRCm39)	missense	probably benign	0.22
R8537:Gucy2e	UTSW	11	69,127,179 (GRCm39)	missense	probably benign	0.01
R8806:Gucy2e	UTSW	11	69,126,942 (GRCm39)	missense	probably benign
R9030:Gucy2e	UTSW	11	69,115,827 (GRCm39)	missense	probably damaging	1.00
R9192:Gucy2e	UTSW	11	69,127,303 (GRCm39)	missense	probably damaging	1.00
R9217:Gucy2e	UTSW	11	69,126,778 (GRCm39)	missense	possibly damaging	0.63
R9304:Gucy2e	UTSW	11	69,126,560 (GRCm39)	missense	probably benign	0.20
R9566:Gucy2e	UTSW	11	69,118,947 (GRCm39)	missense	probably damaging	1.00
R9784:Gucy2e	UTSW	11	69,123,516 (GRCm39)	missense	probably benign
X0025:Gucy2e	UTSW	11	69,117,070 (GRCm39)	missense	probably damaging	1.00
Z1186:Gucy2e	UTSW	11	69,127,429 (GRCm39)	missense	unknown
Z1186:Gucy2e	UTSW	11	69,114,431 (GRCm39)	missense	probably benign	0.00
Z1187:Gucy2e	UTSW	11	69,127,429 (GRCm39)	missense	unknown
Z1187:Gucy2e	UTSW	11	69,114,431 (GRCm39)	missense	probably benign	0.00
Z1188:Gucy2e	UTSW	11	69,127,429 (GRCm39)	missense	unknown
Z1188:Gucy2e	UTSW	11	69,114,431 (GRCm39)	missense	probably benign	0.00
Z1189:Gucy2e	UTSW	11	69,127,429 (GRCm39)	missense	unknown
Z1189:Gucy2e	UTSW	11	69,114,431 (GRCm39)	missense	probably benign	0.00
Z1190:Gucy2e	UTSW	11	69,127,429 (GRCm39)	missense	unknown
Z1190:Gucy2e	UTSW	11	69,114,431 (GRCm39)	missense	probably benign	0.00
Z1191:Gucy2e	UTSW	11	69,127,429 (GRCm39)	missense	unknown
Z1191:Gucy2e	UTSW	11	69,114,431 (GRCm39)	missense	probably benign	0.00
Z1192:Gucy2e	UTSW	11	69,127,429 (GRCm39)	missense	unknown
Z1192:Gucy2e	UTSW	11	69,114,431 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCTATTCCAAAGGCTTCCACG -3'
(R):5'- GCCCCATTTATGGTAGGGTC -3'

Sequencing Primer
(F):5'- TGCTAAATTCTCAGTCCATAGGC -3'
(R):5'- CCCCATTTATGGTAGGGTCAGAGG -3'

Posted On

2019-11-12