Mutagenetix > Incidental Mutation

Incidental Mutation 'R0115:Gucy1b1'

20704

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

038401-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R0115 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

81939313-81981996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81941698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 586 (H586L)

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: H586L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005
AA Change: H586L

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

silent
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

0.0995

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 86.0%

Validation Efficiency

98% (98/100)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	G	9: 114,108,452 (GRCm39)		noncoding transcript	Het
Alas1	A	T	9: 106,115,451 (GRCm39)		probably null	Het
Arf5	A	G	6: 28,426,075 (GRCm39)	Y154C	probably damaging	Het
Arhgap20	T	A	9: 51,750,272 (GRCm39)	I344N	probably damaging	Het
Arhgap30	A	C	1: 171,235,516 (GRCm39)	E630A	possibly damaging	Het
B4galt5	A	G	2: 167,151,154 (GRCm39)	L118P	probably damaging	Het
Bdp1	A	G	13: 100,177,962 (GRCm39)	I1969T	probably benign	Het
Bysl	C	T	17: 47,921,867 (GRCm39)	R77Q	probably benign	Het
Cap1	A	T	4: 122,756,868 (GRCm39)	H272Q	possibly damaging	Het
Ccdc146	T	C	5: 21,527,754 (GRCm39)	I187M	possibly damaging	Het
Ccdc192	G	A	18: 57,727,214 (GRCm39)		probably benign	Het
Cdhr18	A	G	14: 13,899,571 (GRCm38)	V117A	probably damaging	Het
Cdk13	C	A	13: 17,894,079 (GRCm39)	A1123S	probably damaging	Het
Ces5a	A	T	8: 94,228,811 (GRCm39)	M473K	probably damaging	Het
Chd8	A	G	14: 52,474,663 (GRCm39)	S123P	probably benign	Het
Cwc22	G	A	2: 77,738,455 (GRCm39)	A497V	probably damaging	Het
Cwh43	T	C	5: 73,575,370 (GRCm39)	S296P	probably damaging	Het
Cyp2c50	T	A	19: 40,080,837 (GRCm39)		probably benign	Het
Dlg1	C	A	16: 31,624,508 (GRCm39)	Y399*	probably null	Het
Drosha	A	T	15: 12,846,216 (GRCm39)	E92D	probably benign	Het
Fanca	C	T	8: 123,995,278 (GRCm39)	G1408D	probably benign	Het
Frem1	T	A	4: 82,854,406 (GRCm39)	D1621V	possibly damaging	Het
Frem2	G	A	3: 53,563,629 (GRCm39)	R293C	probably damaging	Het
Fut8	T	A	12: 77,495,334 (GRCm39)	V308D	probably damaging	Het
Glipr1	A	G	10: 111,829,446 (GRCm39)	I105T	probably benign	Het
Glmn	A	T	5: 107,708,800 (GRCm39)	S385T	probably benign	Het
Gon4l	T	A	3: 88,802,989 (GRCm39)	V1200D	probably damaging	Het
Gpc1	G	A	1: 92,785,221 (GRCm39)	D387N	probably damaging	Het
Gsdmc	A	G	15: 63,675,486 (GRCm39)	Y110H	probably damaging	Het
Gucy2e	A	G	11: 69,127,458 (GRCm39)	L5P	unknown	Het
Hectd4	A	G	5: 121,433,569 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,684,398 (GRCm39)	I391F	possibly damaging	Het
Hsf4	A	T	8: 105,999,336 (GRCm39)		probably null	Het
I830077J02Rik	G	A	3: 105,833,886 (GRCm39)	T90M	probably damaging	Het
Ino80	A	T	2: 119,261,497 (GRCm39)	H722Q	probably damaging	Het
Kcnma1	C	A	14: 23,364,243 (GRCm39)	R980L	probably damaging	Het
Kif1a	A	G	1: 92,974,500 (GRCm39)		probably benign	Het
Klhdc7b	A	G	15: 89,272,724 (GRCm39)	H1202R	probably benign	Het
Lig3	A	G	11: 82,684,761 (GRCm39)	D559G	probably damaging	Het
Lyst	T	C	13: 13,852,537 (GRCm39)	V2179A	probably benign	Het
Mab21l4	A	T	1: 93,087,447 (GRCm39)	S135R	possibly damaging	Het
Mansc4	A	G	6: 146,976,725 (GRCm39)	I297T	possibly damaging	Het
Marchf6	A	T	15: 31,475,958 (GRCm39)	F633I	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Megf10	G	T	18: 57,392,874 (GRCm39)	V424L	possibly damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mib2	A	G	4: 155,740,519 (GRCm39)		probably benign	Het
Mmut	C	T	17: 41,267,118 (GRCm39)	T564M	probably damaging	Het
Myh8	A	G	11: 67,197,090 (GRCm39)		probably benign	Het
Mypn	T	C	10: 63,028,159 (GRCm39)		probably benign	Het
Nf1	G	A	11: 79,359,702 (GRCm39)		probably null	Het
Notch3	T	A	17: 32,352,436 (GRCm39)	T1866S	possibly damaging	Het
Or1e30	A	G	11: 73,678,141 (GRCm39)	I126V	possibly damaging	Het
Or1o11	C	T	17: 37,756,670 (GRCm39)	A86V	probably benign	Het
Or4c102	A	T	2: 88,422,999 (GRCm39)	I284F	probably damaging	Het
Or4k51	T	A	2: 111,584,930 (GRCm39)	M112K	probably damaging	Het
Pkhd1	A	T	1: 20,420,714 (GRCm39)	I2464N	probably damaging	Het
Pkn1	A	G	8: 84,397,658 (GRCm39)	S817P	probably damaging	Het
Prkg2	A	T	5: 99,142,514 (GRCm39)		probably null	Het
Prl8a6	T	C	13: 27,617,084 (GRCm39)	D201G	probably benign	Het
Psmd1	C	T	1: 86,010,993 (GRCm39)	T356I	possibly damaging	Het
Ptk6	G	A	2: 180,844,320 (GRCm39)		probably benign	Het
Ptprn2	T	C	12: 117,175,466 (GRCm39)		probably benign	Het
Rbm42	G	A	7: 30,347,200 (GRCm39)	T106I	probably damaging	Het
Rims4	A	T	2: 163,706,040 (GRCm39)	V198E	probably damaging	Het
Ripk1	T	C	13: 34,193,733 (GRCm39)	S32P	probably damaging	Het
Rorc	T	C	3: 94,284,916 (GRCm39)		probably benign	Het
Rpl22l1	T	C	3: 28,860,685 (GRCm39)	F15L	probably damaging	Het
Slc6a20a	C	A	9: 123,507,823 (GRCm39)	A17S	possibly damaging	Het
Sorcs1	A	G	19: 50,624,891 (GRCm39)		probably benign	Het
Sp100	A	G	1: 85,577,852 (GRCm39)		probably benign	Het
Ssc5d	G	A	7: 4,930,880 (GRCm39)		probably benign	Het
Taf11	A	G	17: 28,126,635 (GRCm39)	L4P	probably benign	Het
Tm2d3	A	G	7: 65,345,082 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,179,201 (GRCm39)		probably null	Het
Trim34a	T	A	7: 103,897,109 (GRCm39)	C58S	probably damaging	Het
Trpc3	T	C	3: 36,678,566 (GRCm39)	I840V	probably benign	Het
Trpm6	T	C	19: 18,807,316 (GRCm39)	V1020A	probably damaging	Het
Vmn1r214	T	A	13: 23,219,464 (GRCm39)	Y319*	probably null	Het
Vmn1r59	T	C	7: 5,457,115 (GRCm39)	N215S	probably benign	Het
Vmn2r74	T	C	7: 85,606,564 (GRCm39)	M261V	probably benign	Het
Vmn2r89	T	C	14: 51,693,577 (GRCm39)	F309S	probably damaging	Het
Wdr95	A	T	5: 149,487,855 (GRCm39)	D163V	probably damaging	Het
Xirp2	T	A	2: 67,340,253 (GRCm39)	F831L	possibly damaging	Het
Ythdc2	C	T	18: 44,974,490 (GRCm39)		probably benign	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
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
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

PCR Primer
(F):5'- TTTGGACTGCATCTGAGCTGGAC -3'
(R):5'- AGCCATCTTACCTCACCCTGAAGG -3'

Sequencing Primer
(F):5'- AACTGGCTCATCAGTGTGAC -3'
(R):5'- TCACCCTGAAGGTTTCCAATAAAG -3'

Posted On

2013-04-11