Mutagenetix > Incidental Mutation

Incidental Mutation 'R7228:Gucy1b1'

562272

Institutional Source

Beutler Lab

Gene Symbol

Gucy1b1

Ensembl Gene

ENSMUSG00000028005

Gene Name

guanylate cyclase 1, soluble, beta 1

Synonyms

beta 1 sGC

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.357) question?

Stock #

R7228 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82032006-82074689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82033274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 615 (N615I)

Ref Sequence

ENSEMBL: ENSMUSP00000029635 (fasta)

Gene Model

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

AlphaFold

O54865

Predicted Effect

unknown
Transcript: ENSMUST00000029635
AA Change: N615I

SMART Domains

Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005
AA Change: N615I

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

unknown
Transcript: ENSMUST00000193597
AA Change: K609N

SMART Domains

Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005
AA Change: K609N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
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 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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	T	C	9: 51,291,656	D66G	probably damaging	Het
Abca13	T	A	11: 9,297,653	F2467I	probably benign	Het
Acod1	A	G	14: 103,049,329	T23A	probably benign	Het
Adam2	T	A	14: 66,053,912	K306*	probably null	Het
Adcy10	A	C	1: 165,510,272	I152L	probably damaging	Het
Amigo1	T	C	3: 108,187,230	L15P	probably benign	Het
Aqp2	A	G	15: 99,582,124	N156S	probably benign	Het
AU041133	A	G	10: 82,151,271	K253E	possibly damaging	Het
Cacna1s	A	G	1: 136,071,059	T231A	possibly damaging	Het
Carf	A	T	1: 60,109,394	N83I	probably damaging	Het
Ccdc121	T	C	1: 181,510,967	K140R	probably benign	Het
Cdc42bpb	C	T	12: 111,305,093	V1111M	possibly damaging	Het
Cep78	A	G	19: 15,969,197	S424P	probably benign	Het
Cfap74	G	A	4: 155,465,050	V123M	unknown	Het
Crot	T	A	5: 8,976,051	N312I	probably damaging	Het
Cyp2c69	C	A	19: 39,881,166	M136I	possibly damaging	Het
Cyp4f39	A	G	17: 32,491,829	D454G	probably damaging	Het
Dnaja4	A	T	9: 54,714,285	H298L	possibly damaging	Het
Eif2ak4	C	T	2: 118,457,157	T1081M	probably damaging	Het
Eif3j2	T	C	18: 43,477,509	K80E	probably damaging	Het
Elp4	T	A	2: 105,792,302	I351F	probably damaging	Het
Fbxw26	C	G	9: 109,724,944	G209A	possibly damaging	Het
Fsip2	T	A	2: 82,992,307	V6128D	possibly damaging	Het
Gli3	A	G	13: 15,724,502	T825A	probably benign	Het
Gm2042	A	G	12: 87,957,949	E60G	probably benign	Het
Gm26566	G	T	4: 88,722,305	R111L	unknown	Het
Gm3138	C	A	14: 4,252,444	H147Q	probably damaging	Het
Gm4858	T	A	3: 93,073,686	C4S	possibly damaging	Het
Ighv14-1	A	T	12: 113,932,361	F8I	not run	Het
Kcnh8	C	T	17: 52,956,716	T747I	probably benign	Het
Kctd1	T	A	18: 15,062,412	S385C	possibly damaging	Het
Lmo7	T	A	14: 101,896,535	M672K	probably damaging	Het
Lrrc69	T	A	4: 14,775,027	K80N	probably damaging	Het
Map2k5	C	T	9: 63,358,022	D75N	probably damaging	Het
Matr3	T	C	18: 35,562,484	V4A	unknown	Het
Megf10	T	C	18: 57,189,589	C69R	probably damaging	Het
Mettl1	A	G	10: 127,045,283	E221G	probably benign	Het
Mkrn3	C	A	7: 62,419,667	R125S	probably benign	Het
Mlh3	A	T	12: 85,235,656	L1401Q	probably benign	Het
Nacad	T	C	11: 6,598,412	I1412V	probably benign	Het
Nkain4	A	T	2: 180,954,569		probably null	Het
Notch2	T	A	3: 98,137,317	C1518*	probably null	Het
Npw	A	G	17: 24,658,091	V112A	probably benign	Het
Olfr56	T	A	11: 49,134,879	M229K	possibly damaging	Het
Olfr713	A	T	7: 107,037,100	H315L	probably benign	Het
Pdzd2	T	C	15: 12,372,973	T2359A	probably benign	Het
Pdzd2	T	A	15: 12,458,145	K37*	probably null	Het
Phkb	T	G	8: 85,843,007		probably benign	Het
Prrc2b	C	A	2: 32,214,306	Y1265*	probably null	Het
Rab31	T	A	17: 65,717,553	M44L	probably benign	Het
Rap1gds1	C	T	3: 138,957,467	G373R	probably damaging	Het
Rapgef2	T	C	3: 79,069,218	D1279G	probably benign	Het
Rbm46	T	C	3: 82,842,533	D468G	probably benign	Het
Ryr3	T	C	2: 112,861,852	E1059G	probably damaging	Het
Sez6l2	T	C	7: 126,953,725	L221P	probably damaging	Het
Slit3	T	A	11: 35,599,418	V361E	probably damaging	Het
Soat1	G	A	1: 156,434,238	S400F	probably damaging	Het
Spp1	T	C	5: 104,440,445	S238P	probably damaging	Het
Tfap2c	T	C	2: 172,551,572	S136P	probably benign	Het
Tgfbr2	T	C	9: 116,109,943	E297G	probably damaging	Het
Trim2	T	C	3: 84,192,181	D228G	probably benign	Het
Wdr82	C	A	9: 106,176,672	A74E	probably benign	Het
Zfp451	T	C	1: 33,803,394	T136A	unknown	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
R0812: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
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

PCR Primer
(F):5'- AACCATAGTGTGAGATCTGTGTAAC -3'
(R):5'- AACATGTTCATGGGTGCCC -3'

Sequencing Primer
(F):5'- TCTGTGTAACTAGGAGAAAGCCTTG -3'
(R):5'- TCATGGGTGCCCTTCAGAAG -3'

Posted On

2019-06-26