Mutagenetix > Incidental Mutation

Incidental Mutation 'R1687:Gucy1b1'

189404

Institutional Source

Beutler Lab

Gene Symbol

Gucy1b1

Ensembl Gene

ENSMUSG00000028005

Gene Name

guanylate cyclase 1, soluble, beta 1

Synonyms

beta 1 sGC

MMRRC Submission

039720-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82032006-82074689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82038042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 430 (F430L)

Ref Sequence

ENSEMBL: ENSMUSP00000142119 (fasta)

Gene Model

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

AlphaFold

O54865

Predicted Effect

probably damaging
Transcript: ENSMUST00000029635
AA Change: F430L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005
AA Change: F430L

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 damaging
Transcript: ENSMUST00000193597
AA Change: F430L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005
AA Change: F430L

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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,888 (GRCm38)	F931I	probably benign	Het
Alox15	T	A	11: 70,349,918 (GRCm38)	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,537 (GRCm38)	V268D	probably benign	Het
Armc9	A	G	1: 86,156,955 (GRCm38)	M1V	probably null	Het
Brca1	C	T	11: 101,489,840 (GRCm38)	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,736,759 (GRCm38)	V138A	probably benign	Het
Camsap1	A	G	2: 25,939,615 (GRCm38)	F699S	probably damaging	Het
Ccm2	A	G	11: 6,585,118 (GRCm38)	R67G	probably damaging	Het
Cdk16	G	A	X: 20,696,659 (GRCm38)		probably null	Het
Cep85	T	C	4: 134,148,013 (GRCm38)	H546R	probably benign	Het
Cfap54	T	C	10: 92,932,640 (GRCm38)	D207G	probably damaging	Het
Cldn9	G	T	17: 23,683,076 (GRCm38)	R192S	probably benign	Het
Crybb3	A	G	5: 113,079,767 (GRCm38)	S63P	probably damaging	Het
Cux1	A	G	5: 136,312,669 (GRCm38)	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407 (GRCm38)	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407 (GRCm38)		probably benign	Het
Dnah3	A	T	7: 120,045,786 (GRCm38)		probably null	Het
Eif1ad2	A	G	12: 87,819,718 (GRCm38)	D133G	unknown	Het
Eml6	G	A	11: 29,833,187 (GRCm38)	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,617,366 (GRCm38)	V610A	probably benign	Het
Fam234a	T	C	17: 26,215,308 (GRCm38)	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,227,106 (GRCm38)	V154I	probably benign	Het
Frem2	A	T	3: 53,653,952 (GRCm38)	W1045R	probably benign	Het
Fubp1	A	G	3: 152,228,201 (GRCm38)		probably benign	Het
Gja3	T	A	14: 57,036,876 (GRCm38)	N13I	probably damaging	Het
Gpr20	C	A	15: 73,695,902 (GRCm38)	V213L	probably benign	Het
Grk5	T	C	19: 61,076,783 (GRCm38)	I295T	probably damaging	Het
Gzmk	T	A	13: 113,173,928 (GRCm38)	I119L	probably benign	Het
Hadh	T	C	3: 131,245,249 (GRCm38)	I153V	probably benign	Het
Hsfy2	T	C	1: 56,636,853 (GRCm38)	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,775,824 (GRCm38)	I560T	probably benign	Het
Igdcc4	T	C	9: 65,131,663 (GRCm38)	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,632,872 (GRCm38)	D216G	probably benign	Het
Klc2	G	A	19: 5,111,654 (GRCm38)	P303S	probably damaging	Het
Lama5	C	T	2: 180,194,066 (GRCm38)	V1192I	probably benign	Het
Mon2	A	G	10: 123,026,124 (GRCm38)	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,672,478 (GRCm38)	L96Q	probably damaging	Het
Mzf1	C	A	7: 13,052,771 (GRCm38)	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,520,585 (GRCm38)	I726T	probably damaging	Het
Ndnf	A	T	6: 65,703,423 (GRCm38)	T229S	probably benign	Het
Npas3	A	T	12: 54,048,875 (GRCm38)		probably null	Het
Nrap	C	T	19: 56,355,529 (GRCm38)	E729K	probably damaging	Het
Nsun2	T	A	13: 69,627,597 (GRCm38)	F387I	probably damaging	Het
Or11g27	T	C	14: 50,533,702 (GRCm38)	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 164,044,306 (GRCm38)	T452M	probably benign	Het
Pcdh10	T	C	3: 45,380,015 (GRCm38)	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,700,019 (GRCm38)	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,884,704 (GRCm38)		probably benign	Het
Pkp2	T	C	16: 16,268,709 (GRCm38)		probably null	Het
Ppard	A	G	17: 28,297,180 (GRCm38)	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,290,533 (GRCm38)	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,270,279 (GRCm38)	T287A	probably damaging	Het
Sema4b	T	C	7: 80,219,262 (GRCm38)	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,982,157 (GRCm38)	I640N	probably damaging	Het
Smurf2	C	A	11: 106,836,070 (GRCm38)		probably null	Het
Spag5	T	C	11: 78,304,929 (GRCm38)	V354A	probably benign	Het
Sptb	T	C	12: 76,603,699 (GRCm38)	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,981,250 (GRCm38)	L22F	probably benign	Het
Sugp2	T	C	8: 70,242,634 (GRCm38)	S86P	probably damaging	Het
Tnk1	T	C	11: 69,856,473 (GRCm38)	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,939,626 (GRCm38)	I541F	possibly damaging	Het
Trim36	G	T	18: 46,188,657 (GRCm38)	H108N	possibly damaging	Het
Ttn	T	C	2: 76,870,907 (GRCm38)		probably benign	Het
Usp28	T	A	9: 49,024,017 (GRCm38)	S89R	probably benign	Het
Vmn2r121	T	C	X: 124,132,791 (GRCm38)	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,940,818 (GRCm38)	Y630F	probably benign	Het
Washc2	T	A	6: 116,256,712 (GRCm38)	S900T	probably benign	Het
Wdr72	A	G	9: 74,210,199 (GRCm38)	N731S	probably benign	Het
Xrra1	T	A	7: 99,876,244 (GRCm38)	F123L	probably damaging	Het
Zfp648	A	G	1: 154,204,242 (GRCm38)	D49G	probably benign	Het

Other mutations in Gucy1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Gucy1b1	APN	3	82,034,862 (GRCm38)	missense	probably damaging	1.00
IGL01602:Gucy1b1	APN	3	82,035,353 (GRCm38)	missense	probably benign	0.17
IGL01603:Gucy1b1	APN	3	82,034,868 (GRCm38)	missense	probably damaging	0.98
IGL01605:Gucy1b1	APN	3	82,035,353 (GRCm38)	missense	probably benign	0.17
IGL01685:Gucy1b1	APN	3	82,035,285 (GRCm38)	missense	probably benign	0.27
IGL01844:Gucy1b1	APN	3	82,046,526 (GRCm38)	missense	possibly damaging	0.95
IGL02566:Gucy1b1	APN	3	82,058,329 (GRCm38)	missense	probably damaging	1.00
R0014:Gucy1b1	UTSW	3	82,039,861 (GRCm38)	missense	probably damaging	1.00
R0068:Gucy1b1	UTSW	3	82,034,878 (GRCm38)	missense	probably benign	0.34
R0115:Gucy1b1	UTSW	3	82,034,391 (GRCm38)	missense	probably benign
R0126:Gucy1b1	UTSW	3	82,037,911 (GRCm38)	splice site	probably benign
R0277:Gucy1b1	UTSW	3	82,038,156 (GRCm38)	critical splice acceptor site	probably null
R0323:Gucy1b1	UTSW	3	82,038,156 (GRCm38)	critical splice acceptor site	probably null
R0633:Gucy1b1	UTSW	3	82,045,460 (GRCm38)	missense	probably benign	0.02
R0691:Gucy1b1	UTSW	3	82,045,634 (GRCm38)	splice site	probably benign
R0811:Gucy1b1	UTSW	3	82,037,988 (GRCm38)	missense	probably benign	0.04
R0812:Gucy1b1	UTSW	3	82,037,988 (GRCm38)	missense	probably benign	0.04
R1670:Gucy1b1	UTSW	3	82,045,460 (GRCm38)	missense	probably benign	0.10
R1856:Gucy1b1	UTSW	3	82,058,352 (GRCm38)	missense	probably benign	0.00
R1950:Gucy1b1	UTSW	3	82,045,409 (GRCm38)	missense	probably benign	0.43
R1995:Gucy1b1	UTSW	3	82,034,853 (GRCm38)	missense	probably damaging	1.00
R2156:Gucy1b1	UTSW	3	82,061,020 (GRCm38)	missense	probably benign
R2441:Gucy1b1	UTSW	3	82,045,454 (GRCm38)	missense	probably damaging	0.98
R5014:Gucy1b1	UTSW	3	82,046,667 (GRCm38)	missense	probably benign	0.43
R5397:Gucy1b1	UTSW	3	82,044,151 (GRCm38)	missense	possibly damaging	0.92
R5494:Gucy1b1	UTSW	3	82,039,876 (GRCm38)	missense	probably damaging	1.00
R6003:Gucy1b1	UTSW	3	82,058,277 (GRCm38)	missense	probably damaging	1.00
R6088:Gucy1b1	UTSW	3	82,034,880 (GRCm38)	missense	probably damaging	1.00
R6216:Gucy1b1	UTSW	3	82,046,713 (GRCm38)	splice site	probably null
R6331:Gucy1b1	UTSW	3	82,034,411 (GRCm38)	missense	possibly damaging	0.75
R6671:Gucy1b1	UTSW	3	82,034,408 (GRCm38)	missense	probably benign
R6753:Gucy1b1	UTSW	3	82,039,747 (GRCm38)	missense	probably null	0.03
R7150:Gucy1b1	UTSW	3	82,043,162 (GRCm38)	missense	probably damaging	1.00
R7228:Gucy1b1	UTSW	3	82,033,274 (GRCm38)	missense	unknown
R7461:Gucy1b1	UTSW	3	82,039,747 (GRCm38)	missense	possibly damaging	0.74
R7501:Gucy1b1	UTSW	3	82,035,359 (GRCm38)	missense	probably damaging	1.00
R7613:Gucy1b1	UTSW	3	82,039,747 (GRCm38)	missense	possibly damaging	0.74
R7791:Gucy1b1	UTSW	3	82,035,397 (GRCm38)	nonsense	probably null
R8560:Gucy1b1	UTSW	3	82,035,378 (GRCm38)	missense	probably damaging	0.98
R9312:Gucy1b1	UTSW	3	82,034,816 (GRCm38)	missense	probably damaging	1.00
R9553:Gucy1b1	UTSW	3	82,039,780 (GRCm38)	missense	probably damaging	1.00
R9559:Gucy1b1	UTSW	3	82,039,747 (GRCm38)	missense	possibly damaging	0.74
R9762:Gucy1b1	UTSW	3	82,034,758 (GRCm38)	missense	possibly damaging	0.76
Z1177:Gucy1b1	UTSW	3	82,061,112 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAGGCTCCCATGAAGACTTGC -3'
(R):5'- TTGGGGAATATCTGTGACCACGGC -3'

Sequencing Primer
(F):5'- CCATGAAGACTTGCCTTGTAAAC -3'
(R):5'- CACGTAGCTAACAATTGATGCTGG -3'

Posted On

2014-05-14