Mutagenetix > Incidental Mutations

Incidental Mutation 'R6753:Gucy1b1'

530878

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

Is this an essential gene?

Possibly non essential (E-score: 0.487) question?

Stock #

R6753 (G1)

Quality Score

154.008

Status

Validated

Chromosome

Chromosomal Location

82032006-82074689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82039747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 385 (D385G)

Ref Sequence

ENSEMBL: ENSMUSP00000142119 (fasta)

Gene Model

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

AlphaFold

O54865

Predicted Effect

probably null
Transcript: ENSMUST00000029635
AA Change: D385G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005
AA Change: D385G

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
AA Change: D385G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005
AA Change: D385G

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

0.0946

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 120,010,151	P1083S	probably benign	Het
Abcb5	T	A	12: 118,944,906	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,179,553	V67A	possibly damaging	Het
Agk	T	A	6: 40,368,570		probably null	Het
Akap10	A	T	11: 61,886,777	M586K	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Armc1	A	G	3: 19,144,398	F133L	possibly damaging	Het
Bank1	T	C	3: 136,093,308	E424G	probably damaging	Het
Cacna1a	A	G	8: 84,580,205	E1363G	probably damaging	Het
Cacna1d	C	A	14: 30,042,786	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,991,524	L606*	probably null	Het
Ccdc8	C	T	7: 16,996,637	Q684*	probably null	Het
Ces1b	T	A	8: 93,067,020	K314*	probably null	Het
Ces1e	T	A	8: 93,215,128	N238I	probably damaging	Het
Chd4	A	G	6: 125,114,300	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,222,979	D640E	probably damaging	Het
Col7a1	C	T	9: 108,958,128	T559I	unknown	Het
Comt	T	C	16: 18,408,021	K205R	probably benign	Het
Dbp	A	T	7: 45,708,404	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,456,130	T470A	possibly damaging	Het
Eml6	T	A	11: 29,754,987	D1519V	probably damaging	Het
Evpl	T	A	11: 116,237,906	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,563,339	I86N	probably damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,732,159	S301P	probably benign	Het
Gas2l1	C	T	11: 5,064,254	V69I	probably damaging	Het
Gm2042	T	A	12: 87,958,084	I107K	probably damaging	Het
Ints1	T	A	5: 139,765,175	E824D	probably damaging	Het
Itfg1	T	C	8: 85,835,078	D142G	probably benign	Het
Jaml	A	G	9: 45,107,379	N359D	probably benign	Het
Kcnh7	T	A	2: 62,850,377	I289L	probably benign	Het
Klf12	G	A	14: 100,109,776	Q40*	probably null	Het
Mcm4	A	C	16: 15,629,362	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,867,358	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,928,374	V86M	probably damaging	Het
Mogs	T	C	6: 83,115,882	V101A	probably damaging	Het
Narf	T	A	11: 121,242,626	H84Q	probably benign	Het
Olfr987	C	A	2: 85,331,798	M33I	probably benign	Het
Otog	A	C	7: 46,249,071	E204D	probably benign	Het
Parp8	G	A	13: 116,895,115	H354Y	possibly damaging	Het
Pcnx	C	A	12: 81,964,480	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 109,624,449	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,589,663	E3995K	probably benign	Het
Prdm9	A	T	17: 15,544,956	Y521N	probably benign	Het
Prex2	A	G	1: 11,184,456	S1105G	probably damaging	Het
Prss35	T	A	9: 86,756,100	F308I	probably damaging	Het
Rab22a	C	T	2: 173,701,055	A167V	probably benign	Het
Rims2	A	G	15: 39,566,973	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,957,247	M253K	probably benign	Het
Ryr3	T	C	2: 112,652,610	D4269G	probably damaging	Het
Snx11	T	C	11: 96,769,906		probably benign	Het
Son	A	G	16: 91,657,188	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,747,785	R1880L	probably benign	Het
Sun1	G	A	5: 139,215,259		probably null	Het
Tprn	A	G	2: 25,264,038	R451G	probably benign	Het
Trbv30	T	A	6: 41,281,377	M1K	probably null	Het
Ttn	C	A	2: 76,738,221	G25697W	probably damaging	Het
Ubb	T	G	11: 62,551,527		probably null	Het
Unc13b	C	T	4: 43,239,331	R1038C	probably damaging	Het
Usp7	T	C	16: 8,696,911	M687V	probably benign	Het
Zfp160	G	A	17: 21,020,734	M21I	probably benign	Het
Zfp868	T	C	8: 69,612,096	N196S	probably benign	Het
Zufsp	A	T	10: 33,928,029	I483N	probably damaging	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
R7150:Gucy1b1	UTSW	3	82043162	missense	probably damaging	1.00
R7228:Gucy1b1	UTSW	3	82033274	missense	unknown
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
Z1177:Gucy1b1	UTSW	3	82061112	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGATAAGGGTTCCACTGC -3'
(R):5'- GATGAACCTGGACGACCTAAC -3'

Sequencing Primer
(F):5'- CACTGCAGATTTGTGGAACC -3'
(R):5'- CCTAACAAGAAGAGGCCTGTATCTG -3'

Posted On

2018-08-01