Mutagenetix > Incidental Mutation

Incidental Mutation 'R0633:Gucy1b1'

58050

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

038822-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R0633 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81939313-81981996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81952767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 222 (I222K)

Ref Sequence

ENSEMBL: ENSMUSP00000142119 (fasta)

Gene Model

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

AlphaFold

O54865

Predicted Effect

probably benign
Transcript: ENSMUST00000029635
AA Change: I222K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005
AA Change: I222K

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

probably benign
Transcript: ENSMUST00000193597
AA Change: I222K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005
AA Change: I222K

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: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	A	T	9: 30,854,807 (GRCm39)	R18S	probably damaging	Het
Adgb	G	A	10: 10,267,473 (GRCm39)	A923V	probably benign	Het
Aldh1a3	A	G	7: 66,049,970 (GRCm39)	V416A	probably damaging	Het
Alox5	C	T	6: 116,397,345 (GRCm39)	G280R	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Apbb1	C	T	7: 105,208,170 (GRCm39)	V685I	probably damaging	Het
Apc2	C	A	10: 80,143,289 (GRCm39)	A463E	probably damaging	Het
Arhgap21	C	T	2: 20,860,198 (GRCm39)	W1170*	probably null	Het
Atat1	G	A	17: 36,212,315 (GRCm39)	R305C	probably damaging	Het
Brd8dc	A	G	18: 34,719,319 (GRCm39)	V167A	possibly damaging	Het
Cars2	T	C	8: 11,600,511 (GRCm39)	D56G	probably benign	Het
Ccdc202	T	G	14: 96,119,379 (GRCm39)	N45K	probably damaging	Het
Cdc42bpb	T	C	12: 111,311,989 (GRCm39)	I108V	probably damaging	Het
Cftr	T	A	6: 18,305,979 (GRCm39)	I1255K	probably damaging	Het
Ckap5	T	C	2: 91,381,088 (GRCm39)	L148P	probably damaging	Het
Cntn4	A	G	6: 106,656,209 (GRCm39)		probably null	Het
Cpe	G	A	8: 65,062,237 (GRCm39)	P273L	probably damaging	Het
Cpsf7	A	G	19: 10,509,146 (GRCm39)	D19G	probably benign	Het
Ddx25	C	A	9: 35,457,268 (GRCm39)	R349L	probably damaging	Het
Depdc7	T	C	2: 104,553,226 (GRCm39)	D446G	probably benign	Het
Det1	T	A	7: 78,493,683 (GRCm39)	N107I	probably benign	Het
Dock6	A	T	9: 21,755,713 (GRCm39)	D170E	probably benign	Het
Dvl1	C	T	4: 155,942,752 (GRCm39)	L673F	probably damaging	Het
Hfm1	T	C	5: 107,065,467 (GRCm39)	T71A	possibly damaging	Het
Ikzf1	A	G	11: 11,719,223 (GRCm39)	E310G	probably damaging	Het
Impg1	T	C	9: 80,301,437 (GRCm39)	E163G	possibly damaging	Het
Itpr2	G	T	6: 146,275,954 (GRCm39)	H426Q	probably damaging	Het
Itpripl2	C	T	7: 118,089,479 (GRCm39)	G360D	probably benign	Het
Kif14	C	T	1: 136,455,043 (GRCm39)	R1572C	probably damaging	Het
L3mbtl3	A	T	10: 26,178,583 (GRCm39)	H568Q	unknown	Het
Lgi2	A	G	5: 52,711,802 (GRCm39)	Y173H	probably damaging	Het
Lpar5	A	C	6: 125,058,954 (GRCm39)	Y225S	probably benign	Het
Lpin3	A	G	2: 160,745,894 (GRCm39)	H675R	probably damaging	Het
Lrp2	C	A	2: 69,278,464 (GRCm39)	G3963V	probably damaging	Het
Man1a2	G	T	3: 100,591,891 (GRCm39)	D13E	possibly damaging	Het
Map1a	T	C	2: 121,138,495 (GRCm39)	V2753A	probably damaging	Het
Mitf	C	A	6: 97,980,865 (GRCm39)	N97K	probably damaging	Het
Msh2	A	G	17: 87,980,238 (GRCm39)		probably null	Het
Msr1	T	C	8: 40,073,041 (GRCm39)	E170G	probably damaging	Het
Myrip	C	A	9: 120,217,302 (GRCm39)	R79S	probably damaging	Het
Nek10	G	A	14: 14,857,782 (GRCm38)		probably null	Het
Neto1	C	T	18: 86,422,854 (GRCm39)	R104*	probably null	Het
Nom1	A	C	5: 29,656,098 (GRCm39)	K821T	probably damaging	Het
Nrxn1	A	G	17: 91,011,609 (GRCm39)	V340A	probably damaging	Het
Nxpe4	A	T	9: 48,307,897 (GRCm39)	I334F	probably benign	Het
Or1e23	A	G	11: 73,407,753 (GRCm39)	S91P	probably benign	Het
Or2ag1	T	C	7: 106,313,184 (GRCm39)	K235E	probably benign	Het
Or4a74	T	C	2: 89,439,718 (GRCm39)	M243V	probably benign	Het
Or5al7	T	A	2: 85,992,435 (GRCm39)	N286I	probably damaging	Het
Or5b124	T	C	19: 13,610,700 (GRCm39)	V75A	probably damaging	Het
Or8k27	C	T	2: 86,275,473 (GRCm39)	M284I	probably benign	Het
Padi4	A	G	4: 140,484,896 (GRCm39)	S322P	probably damaging	Het
Peli3	A	G	19: 4,991,810 (GRCm39)	Y44H	probably damaging	Het
Prdm4	A	G	10: 85,743,767 (GRCm39)	S163P	probably damaging	Het
Prom2	T	C	2: 127,381,445 (GRCm39)	D227G	probably benign	Het
Ptgfr	C	T	3: 151,507,400 (GRCm39)	R321H	probably benign	Het
Resf1	A	T	6: 149,227,199 (GRCm39)	I82L	probably benign	Het
Rgs3	G	A	4: 62,544,143 (GRCm39)	R136H	probably damaging	Het
Rgsl1	T	G	1: 153,719,853 (GRCm39)	N3T	possibly damaging	Het
Rif1	T	C	2: 52,002,575 (GRCm39)	S2010P	probably benign	Het
Rngtt	T	C	4: 33,368,690 (GRCm39)	F408L	probably damaging	Het
Rtn3	T	G	19: 7,434,958 (GRCm39)	T326P	probably benign	Het
Slc18b1	A	C	10: 23,681,936 (GRCm39)	M167L	probably benign	Het
Slc22a26	A	G	19: 7,765,575 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,317 (GRCm39)	D130G	probably damaging	Het
Snap47	A	G	11: 59,319,439 (GRCm39)	V233A	probably benign	Het
Sumf1	A	C	6: 108,121,632 (GRCm39)	Y158D	probably damaging	Het
Tbc1d15	A	T	10: 115,056,215 (GRCm39)	H252Q	probably benign	Het
Thsd7b	T	C	1: 130,116,263 (GRCm39)	S1339P	possibly damaging	Het
Tmem45a2	T	C	16: 56,869,777 (GRCm39)	I56V	probably benign	Het
Ttc21b	A	G	2: 66,066,577 (GRCm39)	S359P	probably benign	Het
Ttc27	T	C	17: 75,036,972 (GRCm39)	I215T	probably benign	Het
Ttn	C	T	2: 76,554,539 (GRCm39)	V30759I	possibly damaging	Het
Vdac3	T	C	8: 23,070,404 (GRCm39)	N168S	probably damaging	Het
Wdr7	T	C	18: 63,998,371 (GRCm39)	V1106A	probably benign	Het
Wrap73	T	A	4: 154,226,948 (GRCm39)	F16Y	probably damaging	Het
Zfat	C	A	15: 68,052,652 (GRCm39)	D381Y	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
R0323:Gucy1b1	UTSW	3	81,945,463 (GRCm39)	critical splice acceptor site	probably null
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

PCR Primer
(F):5'- AGCTGACTGCTCTTAGCAATTTCCC -3'
(R):5'- ACATCCCTGTTCAGGAGTCCTACC -3'

Sequencing Primer
(F):5'- ATCGGTCCTGCTAACGAATG -3'
(R):5'- GAGGACAACACGGTATATTCTTCC -3'

Posted On

2013-07-11