Mutagenetix > Incidental Mutation

Incidental Mutation 'R0812:Gucy1b1'

262295

Institutional Source

Beutler Lab

Gene Symbol

Gucy1b1

Ensembl Gene

ENSMUSG00000028005

Gene Name

guanylate cyclase 1, soluble, beta 1

Synonyms

beta 1 sGC

MMRRC Submission

038992-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R0812 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82032006-82074689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82037988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 448 (N448D)

Ref Sequence

ENSEMBL: ENSMUSP00000029635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029635] [ENSMUST00000193597]

AlphaFold

O54865

Predicted Effect

probably benign
Transcript: ENSMUST00000029635
AA Change: N448D

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005
AA Change: N448D

Domain	Start	End	E-Value	Type
Pfam:HNOB	2	166	3.4e-58	PFAM
low complexity region	182	189	N/A	INTRINSIC
PDB:4GJ4\|D	212	343	9e-16	PDB
CYCc	385	586	3.53e-93	SMART
low complexity region	608	620	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192508

Predicted Effect

probably benign
Transcript: ENSMUST00000193597
AA Change: N448D

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005
AA Change: N448D

Domain	Start	End	E-Value	Type
Pfam:HNOB	1	172	1.5e-67	PFAM
low complexity region	182	189	N/A	INTRINSIC
PDB:4GJ4\|D	212	343	9e-16	PDB
CYCc	385	582	1.71e-91	SMART

Meta Mutation Damage Score

0.0930

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.8%
20x: 91.7%

Validation Efficiency

96% (52/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous null mice that bypass neonatal lethality die prematurely due to severe gastrointestinal obstruction and exhibit hypertension, reduced heart rate, lack of glycerol trinitrate-induced drop in systolic pressure, and lack of a nitric oxide effect on aortic relaxation and platelet aggregation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	G	2: 130,713,414	F858S	probably damaging	Het
Abcb1a	T	C	5: 8,713,229	S586P	probably damaging	Het
Abcc3	G	A	11: 94,375,202		probably benign	Het
Ap5z1	G	A	5: 142,475,791	R583H	probably benign	Het
Arrb1	G	T	7: 99,598,501	V346L	probably benign	Het
Atrnl1	T	A	19: 57,673,141	F518I	probably benign	Het
Bank1	T	A	3: 136,093,366	I405F	probably damaging	Het
Cacna1c	A	G	6: 118,630,263	C1227R	probably benign	Het
Cacna1h	A	G	17: 25,388,628	L905P	probably damaging	Het
Cc2d1a	A	G	8: 84,133,836	Y826H	probably benign	Het
Cenpo	A	G	12: 4,216,643	V155A	probably benign	Het
Cnmd	A	G	14: 79,661,423	F63S	probably damaging	Het
Cnn3	G	A	3: 121,454,951	G72D	probably damaging	Het
Cox10	A	G	11: 64,071,713	S101P	probably benign	Het
Ctdsp1	T	C	1: 74,394,647	V129A	probably damaging	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Dennd5a	G	A	7: 109,933,613	H317Y	possibly damaging	Het
Eef2	C	CN	10: 81,178,769		probably null	Het
Enox1	T	A	14: 77,582,436	D210E	probably damaging	Het
Fam171a1	A	G	2: 3,197,427	N190S	probably damaging	Het
Fat2	T	A	11: 55,253,633	K4138N	possibly damaging	Het
Fat4	A	T	3: 38,957,474	D2241V	probably damaging	Het
Fbn1	C	T	2: 125,403,170	V266I	possibly damaging	Het
Foxf2	T	A	13: 31,627,205	Y376N	probably damaging	Het
Fras1	T	A	5: 96,752,998	S3025R	probably benign	Het
Gba	T	C	3: 89,204,000	I24T	probably benign	Het
Gdpd5	A	G	7: 99,438,333	D68G	probably damaging	Het
Grid1	G	A	14: 34,822,619	S49N	probably benign	Het
Grtp1	T	C	8: 13,179,639	T250A	possibly damaging	Het
H2-Ob	A	G	17: 34,244,126		probably benign	Het
Hcn4	A	G	9: 58,823,512	M1V	probably null	Het
Hmcn2	G	A	2: 31,420,371	A3326T	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,257,939		probably benign	Het
Ippk	C	A	13: 49,443,471	Q254K	probably damaging	Het
Itga2	A	T	13: 114,870,614	L393I	possibly damaging	Het
Kcna10	A	T	3: 107,195,259	E402V	possibly damaging	Het
Kcnab1	G	A	3: 65,297,720	D119N	probably damaging	Het
Kcnip4	T	A	5: 48,409,860	T122S	probably benign	Het
Kcnma1	G	A	14: 23,300,018	P1151L	probably damaging	Het
Klhl22	T	A	16: 17,792,589	M568K	probably benign	Het
Krt6a	C	T	15: 101,692,748	V257M	probably damaging	Het
Ksr2	A	C	5: 117,555,225	H246P	probably damaging	Het
Lca5	T	C	9: 83,399,753	D326G	possibly damaging	Het
Lcp1	A	G	14: 75,214,488	E393G	probably benign	Het
Leo1	G	A	9: 75,445,549	E125K	probably benign	Het
Lipt1	T	A	1: 37,875,301	V146E	probably damaging	Het
Mael	A	T	1: 166,235,399		probably null	Het
Mga	C	T	2: 119,947,961	L1996F	probably damaging	Het
Mllt6	A	G	11: 97,678,561	N913S	probably damaging	Het
Mphosph9	A	C	5: 124,298,759	D507E	probably damaging	Het
Mvp	G	A	7: 126,987,556	A801V	probably benign	Het
Ndrg2	A	G	14: 51,908,662		probably benign	Het
Neb	T	C	2: 52,292,695	D1053G	possibly damaging	Het
Nubp1	C	A	16: 10,413,721	L79I	probably benign	Het
Olfr397	G	A	11: 73,965,420	E271K	probably benign	Het
Olfr924	G	A	9: 38,848,509	V132I	probably benign	Het
Olfr97	A	C	17: 37,232,332	L13V	probably benign	Het
Pnpla8	G	A	12: 44,283,405	V29M	probably benign	Het
Psmb2	T	A	4: 126,707,557	I151N	possibly damaging	Het
Ptgs2	C	T	1: 150,101,354	T104I	probably benign	Het
Ptpro	A	G	6: 137,368,079	T28A	probably benign	Het
Raf1	A	G	6: 115,626,710		probably null	Het
Ranbp2	T	C	10: 58,465,529	M668T	probably benign	Het
Rbm48	A	T	5: 3,591,760		probably null	Het
Rhag	A	T	17: 40,831,578	T225S	possibly damaging	Het
Rhof	A	C	5: 123,131,887	L69R	probably damaging	Het
Slc24a5	T	C	2: 125,068,804	S52P	probably damaging	Het
Slc8a2	T	C	7: 16,141,114	V429A	probably damaging	Het
Slfn10-ps	G	A	11: 83,035,562		noncoding transcript	Het
Spam1	G	A	6: 24,796,887	R279H	probably damaging	Het
Srfbp1	A	G	18: 52,487,516	D102G	probably damaging	Het
Srrm3	A	C	5: 135,873,282		probably benign	Het
Tk1	T	C	11: 117,822,107	E98G	probably damaging	Het
Trim13	G	A	14: 61,605,700	V389I	probably benign	Het
Ttc28	A	T	5: 111,235,500	Y1289F	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ugt1a10	T	A	1: 88,056,182	V234D	probably benign	Het
Vmn2r18	C	A	5: 151,572,930		probably benign	Het
Vmn2r75	C	T	7: 86,165,367	G306E	probably benign	Het
Vmn2r86	C	T	10: 130,453,628	V133I	probably benign	Het
Vps13c	C	A	9: 67,934,476	Q1927K	probably benign	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp219	T	A	14: 52,006,938	T550S	probably benign	Het
Zfp329	T	A	7: 12,811,468	N43I	probably benign	Het
Zfp507	G	A	7: 35,802,623		probably benign	Het
Zfp97	T	A	17: 17,145,290	F350L	possibly damaging	Het

Other mutations in Gucy1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Gucy1b1	APN	3	82034862	missense	probably damaging	1.00
IGL01602:Gucy1b1	APN	3	82035353	missense	probably benign	0.17
IGL01603:Gucy1b1	APN	3	82034868	missense	probably damaging	0.98
IGL01605:Gucy1b1	APN	3	82035353	missense	probably benign	0.17
IGL01685:Gucy1b1	APN	3	82035285	missense	probably benign	0.27
IGL01844:Gucy1b1	APN	3	82046526	missense	possibly damaging	0.95
IGL02566:Gucy1b1	APN	3	82058329	missense	probably damaging	1.00
R0014:Gucy1b1	UTSW	3	82039861	missense	probably damaging	1.00
R0068:Gucy1b1	UTSW	3	82034878	missense	probably benign	0.34
R0115:Gucy1b1	UTSW	3	82034391	missense	probably benign
R0126:Gucy1b1	UTSW	3	82037911	splice site	probably benign
R0277:Gucy1b1	UTSW	3	82038156	critical splice acceptor site	probably null
R0323:Gucy1b1	UTSW	3	82038156	critical splice acceptor site	probably null
R0633:Gucy1b1	UTSW	3	82045460	missense	probably benign	0.02
R0691:Gucy1b1	UTSW	3	82045634	splice site	probably benign
R0811:Gucy1b1	UTSW	3	82037988	missense	probably benign	0.04
R1670:Gucy1b1	UTSW	3	82045460	missense	probably benign	0.10
R1687:Gucy1b1	UTSW	3	82038042	missense	probably damaging	1.00
R1856:Gucy1b1	UTSW	3	82058352	missense	probably benign	0.00
R1950:Gucy1b1	UTSW	3	82045409	missense	probably benign	0.43
R1995:Gucy1b1	UTSW	3	82034853	missense	probably damaging	1.00
R2156:Gucy1b1	UTSW	3	82061020	missense	probably benign
R2441:Gucy1b1	UTSW	3	82045454	missense	probably damaging	0.98
R5014:Gucy1b1	UTSW	3	82046667	missense	probably benign	0.43
R5397:Gucy1b1	UTSW	3	82044151	missense	possibly damaging	0.92
R5494:Gucy1b1	UTSW	3	82039876	missense	probably damaging	1.00
R6003:Gucy1b1	UTSW	3	82058277	missense	probably damaging	1.00
R6088:Gucy1b1	UTSW	3	82034880	missense	probably damaging	1.00
R6216:Gucy1b1	UTSW	3	82046713	splice site	probably null
R6331:Gucy1b1	UTSW	3	82034411	missense	possibly damaging	0.75
R6671:Gucy1b1	UTSW	3	82034408	missense	probably benign
R6753:Gucy1b1	UTSW	3	82039747	missense	probably null	0.03
R7150:Gucy1b1	UTSW	3	82043162	missense	probably damaging	1.00
R7228:Gucy1b1	UTSW	3	82033274	missense	unknown
R7461:Gucy1b1	UTSW	3	82039747	missense	possibly damaging	0.74
R7501:Gucy1b1	UTSW	3	82035359	missense	probably damaging	1.00
R7613:Gucy1b1	UTSW	3	82039747	missense	possibly damaging	0.74
R7791:Gucy1b1	UTSW	3	82035397	nonsense	probably null
R8560:Gucy1b1	UTSW	3	82035378	missense	probably damaging	0.98
R9312:Gucy1b1	UTSW	3	82034816	missense	probably damaging	1.00
R9553:Gucy1b1	UTSW	3	82039780	missense	probably damaging	1.00
R9559:Gucy1b1	UTSW	3	82039747	missense	possibly damaging	0.74
R9762:Gucy1b1	UTSW	3	82034758	missense	possibly damaging	0.76
Z1177:Gucy1b1	UTSW	3	82061112	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-04