Mutagenetix > Incidental Mutation

Incidental Mutation 'R0323:Gucy1b1'

64997

Institutional Source

Beutler Lab

Gene Symbol

Gucy1b1

Ensembl Gene

ENSMUSG00000028005

Gene Name

guanylate cyclase 1, soluble, beta 1

Synonyms

beta 1 sGC, Gucy1b3

MMRRC Submission

038533-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R0323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81939313-81981996 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 81945463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142119 (fasta)

Gene Model

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

AlphaFold

O54865

Predicted Effect

probably null
Transcript: ENSMUST00000029635

SMART Domains

Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005

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 null
Transcript: ENSMUST00000193597

SMART Domains

Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005

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

0.9753

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 94.2%
20x: 86.1%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,446,674 (GRCm39)	T816S	possibly damaging	Het
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
4931429P17Rik	A	C	13: 48,114,493 (GRCm39)		noncoding transcript	Het
Abca13	A	C	11: 9,244,701 (GRCm39)	D2188A	probably benign	Het
Accsl	T	A	2: 93,691,425 (GRCm39)	Q351L	probably benign	Het
Acot6	A	C	12: 84,155,953 (GRCm39)	E300D	probably benign	Het
Adgre1	T	A	17: 57,751,060 (GRCm39)	I578N	probably benign	Het
Agbl4	T	C	4: 111,474,419 (GRCm39)	S403P	probably damaging	Het
Agps	T	A	2: 75,724,505 (GRCm39)	Y506*	probably null	Het
Appl1	A	T	14: 26,664,695 (GRCm39)	V446D	possibly damaging	Het
Arcn1	A	T	9: 44,670,356 (GRCm39)	I90N	probably damaging	Het
Aspscr1	G	A	11: 120,569,246 (GRCm39)	V15I	probably damaging	Het
Asxl2	A	G	12: 3,492,487 (GRCm39)	Y24C	probably damaging	Het
Atp8b1	A	G	18: 64,701,323 (GRCm39)	F345S	possibly damaging	Het
Barx1	A	G	13: 48,819,430 (GRCm39)	T243A	probably benign	Het
Bltp1	T	A	3: 36,997,331 (GRCm39)	C1129*	probably null	Het
Bmp2k	A	G	5: 97,235,682 (GRCm39)		probably benign	Het
Cacul1	A	G	19: 60,531,498 (GRCm39)	I257T	probably benign	Het
Chml	A	T	1: 175,514,650 (GRCm39)	F424I	probably benign	Het
Clcn1	A	T	6: 42,287,074 (GRCm39)	E710D	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cylc2	T	A	4: 51,228,477 (GRCm39)	S183T	unknown	Het
Dhtkd1	T	A	2: 5,919,699 (GRCm39)	M561L	probably benign	Het
Dnajc13	A	G	9: 104,034,091 (GRCm39)	S2188P	probably damaging	Het
Dyrk1b	C	A	7: 27,884,781 (GRCm39)	Q399K	probably benign	Het
Erc1	T	C	6: 119,597,289 (GRCm39)	K1003E	probably damaging	Het
Ezr	G	A	17: 7,022,164 (GRCm39)	Q105*	probably null	Het
Fam83d	T	A	2: 158,627,467 (GRCm39)	D385E	probably benign	Het
Fbn2	A	G	18: 58,178,389 (GRCm39)	C1950R	probably damaging	Het
Fbxo32	A	T	15: 58,047,605 (GRCm39)	I236N	probably damaging	Het
Fcgr1	T	C	3: 96,193,145 (GRCm39)	E284G	possibly damaging	Het
Foxe3	T	C	4: 114,782,805 (GRCm39)	N136D	probably damaging	Het
Fscn2	A	T	11: 120,258,837 (GRCm39)	I461F	probably damaging	Het
Fsip2	T	C	2: 82,816,240 (GRCm39)	I3991T	probably benign	Het
Galnt15	A	T	14: 31,770,042 (GRCm39)	H249L	probably damaging	Het
Gm10803	T	A	2: 93,394,415 (GRCm39)	Y62*	probably null	Het
Gm20730	G	A	6: 43,058,449 (GRCm39)		probably null	Het
Gm4841	A	G	18: 60,403,718 (GRCm39)	L125S	possibly damaging	Het
Gmpr2	A	G	14: 55,910,203 (GRCm39)	D11G	probably damaging	Het
Hhla1	C	A	15: 65,820,352 (GRCm39)	V133F	probably benign	Het
Hscb	T	C	5: 110,982,556 (GRCm39)	E177G	possibly damaging	Het
Hyal4	A	T	6: 24,756,193 (GRCm39)	N137I	probably benign	Het
Lcp2	A	G	11: 34,004,322 (GRCm39)	D53G	probably damaging	Het
Ldb3	G	A	14: 34,266,002 (GRCm39)	T531I	probably damaging	Het
Llgl2	A	G	11: 115,741,546 (GRCm39)	K559E	probably damaging	Het
Loxhd1	A	G	18: 77,456,833 (GRCm39)	I499V	probably benign	Het
Lrp2	T	C	2: 69,299,983 (GRCm39)	Y3023C	probably damaging	Het
Lrrc59	A	C	11: 94,534,248 (GRCm39)	T269P	probably damaging	Het
Lrriq1	A	T	10: 103,057,150 (GRCm39)	C217S	possibly damaging	Het
Mmrn2	A	T	14: 34,119,991 (GRCm39)	Q287L	probably damaging	Het
Mplkip	A	G	13: 17,871,565 (GRCm39)	I159V	possibly damaging	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Nrxn1	A	C	17: 91,008,170 (GRCm39)		probably null	Het
Or10ag60	G	A	2: 87,437,841 (GRCm39)	M36I	probably benign	Het
Or1e17	A	T	11: 73,831,773 (GRCm39)	I234F	probably benign	Het
Or6c70	T	A	10: 129,709,936 (GRCm39)	Q230L	probably damaging	Het
Or6d15	A	T	6: 116,559,562 (GRCm39)	V115E	probably damaging	Het
Or6n2	A	G	1: 173,896,893 (GRCm39)	T10A	probably benign	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Palm3	T	A	8: 84,755,349 (GRCm39)	V287D	probably damaging	Het
Pde11a	C	T	2: 75,877,118 (GRCm39)		probably null	Het
Pdss2	T	A	10: 43,248,172 (GRCm39)	H225Q	probably benign	Het
Pkhd1	A	T	1: 20,345,762 (GRCm39)	D2755E	probably benign	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Polrmt	T	C	10: 79,577,832 (GRCm39)	T287A	probably benign	Het
Ppfia2	A	G	10: 106,732,281 (GRCm39)	I943V	possibly damaging	Het
Pth2r	A	C	1: 65,427,775 (GRCm39)	I483L	probably benign	Het
Qrsl1	A	G	10: 43,772,003 (GRCm39)		probably null	Het
Ralgapa1	A	T	12: 55,724,023 (GRCm39)	I1548N	probably damaging	Het
Scn9a	T	C	2: 66,398,475 (GRCm39)	E45G	probably damaging	Het
Sf3b1	T	C	1: 55,058,416 (GRCm39)	I58V	probably damaging	Het
Sh3d19	T	A	3: 86,033,978 (GRCm39)	M777K	probably benign	Het
Shc1	T	C	3: 89,331,020 (GRCm39)	L106P	probably damaging	Het
Skint5	T	C	4: 113,794,818 (GRCm39)	H255R	probably benign	Het
Slc28a3	C	A	13: 58,711,866 (GRCm39)	G487*	probably null	Het
Slc49a4	ACC	AC	16: 35,539,730 (GRCm39)		probably null	Het
Slfn4	A	T	11: 83,077,777 (GRCm39)	R188S	probably damaging	Het
Slitrk5	A	G	14: 111,919,055 (GRCm39)	D893G	probably damaging	Het
Spta1	A	G	1: 174,046,017 (GRCm39)	T1594A	probably damaging	Het
Srarp	G	A	4: 141,160,690 (GRCm39)	Q48*	probably null	Het
Srf	T	C	17: 46,860,415 (GRCm39)	T456A	possibly damaging	Het
Stx2	C	T	5: 129,065,967 (GRCm39)	V230I	probably benign	Het
Tenm4	C	A	7: 96,344,157 (GRCm39)	P250Q	possibly damaging	Het
Tnrc6c	A	G	11: 117,630,707 (GRCm39)	K1023E	probably damaging	Het
Trpc6	A	T	9: 8,610,276 (GRCm39)	H248L	probably damaging	Het
Trpc6	A	G	9: 8,643,537 (GRCm39)	K441E	probably damaging	Het
Uty	T	A	Y: 1,169,979 (GRCm39)	I326F	probably damaging	Het
Vmn1r63	A	G	7: 5,806,335 (GRCm39)	V99A	probably benign	Het
Wnt11	A	G	7: 98,496,590 (GRCm39)	K177E	probably damaging	Het
Wwc1	T	A	11: 35,743,175 (GRCm39)	E882V	probably damaging	Het
Zfhx2	C	A	14: 55,303,436 (GRCm39)	S1516I	possibly damaging	Het
Zmpste24	A	G	4: 120,940,050 (GRCm39)	Y199H	probably damaging	Het

Other mutations in Gucy1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Gucy1b1	APN	3	81,942,169 (GRCm39)	missense	probably damaging	1.00
IGL01602:Gucy1b1	APN	3	81,942,660 (GRCm39)	missense	probably benign	0.17
IGL01603:Gucy1b1	APN	3	81,942,175 (GRCm39)	missense	probably damaging	0.98
IGL01605:Gucy1b1	APN	3	81,942,660 (GRCm39)	missense	probably benign	0.17
IGL01685:Gucy1b1	APN	3	81,942,592 (GRCm39)	missense	probably benign	0.27
IGL01844:Gucy1b1	APN	3	81,953,833 (GRCm39)	missense	possibly damaging	0.95
IGL02566:Gucy1b1	APN	3	81,965,636 (GRCm39)	missense	probably damaging	1.00
R0014:Gucy1b1	UTSW	3	81,947,168 (GRCm39)	missense	probably damaging	1.00
R0068:Gucy1b1	UTSW	3	81,942,185 (GRCm39)	missense	probably benign	0.34
R0115:Gucy1b1	UTSW	3	81,941,698 (GRCm39)	missense	probably benign
R0126:Gucy1b1	UTSW	3	81,945,218 (GRCm39)	splice site	probably benign
R0277:Gucy1b1	UTSW	3	81,945,463 (GRCm39)	critical splice acceptor site	probably null
R0633:Gucy1b1	UTSW	3	81,952,767 (GRCm39)	missense	probably benign	0.02
R0691:Gucy1b1	UTSW	3	81,952,941 (GRCm39)	splice site	probably benign
R0811:Gucy1b1	UTSW	3	81,945,295 (GRCm39)	missense	probably benign	0.04
R0812:Gucy1b1	UTSW	3	81,945,295 (GRCm39)	missense	probably benign	0.04
R1670:Gucy1b1	UTSW	3	81,952,767 (GRCm39)	missense	probably benign	0.10
R1687:Gucy1b1	UTSW	3	81,945,349 (GRCm39)	missense	probably damaging	1.00
R1856:Gucy1b1	UTSW	3	81,965,659 (GRCm39)	missense	probably benign	0.00
R1950:Gucy1b1	UTSW	3	81,952,716 (GRCm39)	missense	probably benign	0.43
R1995:Gucy1b1	UTSW	3	81,942,160 (GRCm39)	missense	probably damaging	1.00
R2156:Gucy1b1	UTSW	3	81,968,327 (GRCm39)	missense	probably benign
R2441:Gucy1b1	UTSW	3	81,952,761 (GRCm39)	missense	probably damaging	0.98
R5014:Gucy1b1	UTSW	3	81,953,974 (GRCm39)	missense	probably benign	0.43
R5397:Gucy1b1	UTSW	3	81,951,458 (GRCm39)	missense	possibly damaging	0.92
R5494:Gucy1b1	UTSW	3	81,947,183 (GRCm39)	missense	probably damaging	1.00
R6003:Gucy1b1	UTSW	3	81,965,584 (GRCm39)	missense	probably damaging	1.00
R6088:Gucy1b1	UTSW	3	81,942,187 (GRCm39)	missense	probably damaging	1.00
R6216:Gucy1b1	UTSW	3	81,954,020 (GRCm39)	splice site	probably null
R6331:Gucy1b1	UTSW	3	81,941,718 (GRCm39)	missense	possibly damaging	0.75
R6671:Gucy1b1	UTSW	3	81,941,715 (GRCm39)	missense	probably benign
R6753:Gucy1b1	UTSW	3	81,947,054 (GRCm39)	missense	probably null	0.03
R7150:Gucy1b1	UTSW	3	81,950,469 (GRCm39)	missense	probably damaging	1.00
R7228:Gucy1b1	UTSW	3	81,940,581 (GRCm39)	missense	unknown
R7461:Gucy1b1	UTSW	3	81,947,054 (GRCm39)	missense	possibly damaging	0.74
R7501:Gucy1b1	UTSW	3	81,942,666 (GRCm39)	missense	probably damaging	1.00
R7613:Gucy1b1	UTSW	3	81,947,054 (GRCm39)	missense	possibly damaging	0.74
R7791:Gucy1b1	UTSW	3	81,942,704 (GRCm39)	nonsense	probably null
R8560:Gucy1b1	UTSW	3	81,942,685 (GRCm39)	missense	probably damaging	0.98
R9312:Gucy1b1	UTSW	3	81,942,123 (GRCm39)	missense	probably damaging	1.00
R9553:Gucy1b1	UTSW	3	81,947,087 (GRCm39)	missense	probably damaging	1.00
R9559:Gucy1b1	UTSW	3	81,947,054 (GRCm39)	missense	possibly damaging	0.74
R9762:Gucy1b1	UTSW	3	81,942,065 (GRCm39)	missense	possibly damaging	0.76
Z1177:Gucy1b1	UTSW	3	81,968,419 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-08