Mutagenetix > Incidental Mutation

Incidental Mutation 'R6331:Gucy1b1'

510892

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

044485-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R6331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81939313-81981996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81941718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 574 (S574P)

Ref Sequence

ENSEMBL: ENSMUSP00000142119 (fasta)

Gene Model

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

AlphaFold

O54865

Predicted Effect

silent
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

possibly damaging
Transcript: ENSMUST00000193597
AA Change: S574P

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005
AA Change: S574P

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

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,529,199 (GRCm39)	D981G	probably damaging	Het
Abcc1	C	A	16: 14,282,920 (GRCm39)	A1132D	probably damaging	Het
Adamts12	A	G	15: 11,241,519 (GRCm39)	T364A	probably damaging	Het
Ahnak	A	T	19: 8,983,989 (GRCm39)	M1758L	probably benign	Het
Ak9	T	C	10: 41,258,825 (GRCm39)	V774A	probably damaging	Het
Ash1l	A	G	3: 88,915,172 (GRCm39)	E1934G	probably benign	Het
Atp2b2	C	T	6: 113,774,092 (GRCm39)	A341T	probably benign	Het
Bach2	G	T	4: 32,238,816 (GRCm39)		probably benign	Het
Bltp3a	T	C	17: 28,112,175 (GRCm39)	I1150T	probably benign	Het
Brd10	C	T	19: 29,695,147 (GRCm39)	V1449I	probably benign	Het
Ccdc102a	T	C	8: 95,638,144 (GRCm39)	T241A	probably benign	Het
Chd5	G	T	4: 152,466,865 (GRCm39)	R1627S	probably benign	Het
Clint1	T	C	11: 45,785,908 (GRCm39)	S322P	probably benign	Het
Dapk1	T	A	13: 60,877,256 (GRCm39)	C498*	probably null	Het
Diaph3	T	G	14: 87,103,976 (GRCm39)	S803R	probably damaging	Het
Dmp1	T	C	5: 104,354,991 (GRCm39)	L10P	probably damaging	Het
Gcc2	T	C	10: 58,107,287 (GRCm39)	V741A	probably benign	Het
Gldn	A	G	9: 54,194,162 (GRCm39)	M119V	probably benign	Het
Hapln4	T	A	8: 70,537,073 (GRCm39)		probably benign	Het
Hars1	A	G	18: 36,904,385 (GRCm39)	V209A	probably benign	Het
Htt	T	A	5: 35,053,231 (GRCm39)	F2521L	possibly damaging	Het
Kif14	A	G	1: 136,443,724 (GRCm39)	D1299G	probably null	Het
Krt25	T	A	11: 99,208,253 (GRCm39)	E325V	probably damaging	Het
Lcmt1	T	C	7: 122,977,405 (GRCm39)		probably benign	Het
Lrp1b	A	T	2: 40,693,221 (GRCm39)	N3266K	probably damaging	Het
Mctp1	T	A	13: 77,168,982 (GRCm39)		probably null	Het
Mtarc2	A	G	1: 184,551,525 (GRCm39)	S304P	probably damaging	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Myom3	A	G	4: 135,503,688 (GRCm39)	N379S	possibly damaging	Het
Nbea	A	T	3: 55,908,037 (GRCm39)	D1358E	possibly damaging	Het
Nod1	T	C	6: 54,901,968 (GRCm39)	E939G	probably damaging	Het
Obox1	A	G	7: 15,289,294 (GRCm39)	R70G	probably benign	Het
Or13c25	A	G	4: 52,911,399 (GRCm39)	Y132H	probably damaging	Het
Or13p3	A	G	4: 118,567,144 (GRCm39)	E180G	probably benign	Het
Or4a2	C	T	2: 89,248,695 (GRCm39)	G21S	probably benign	Het
Or5m12	T	C	2: 85,734,560 (GRCm39)	I279M	probably benign	Het
Otof	T	C	5: 30,529,279 (GRCm39)	D1745G	possibly damaging	Het
Pklr	A	G	3: 89,044,662 (GRCm39)	I47V	probably damaging	Het
Pms2	T	A	5: 143,851,451 (GRCm39)	S123T	possibly damaging	Het
Pnpla2	T	C	7: 141,039,198 (GRCm39)	S337P	probably damaging	Het
Ptgfrn	A	C	3: 100,952,936 (GRCm39)	V766G	possibly damaging	Het
Ptpn11	T	A	5: 121,282,716 (GRCm39)	H419L	probably damaging	Het
Rims3	T	A	4: 120,740,350 (GRCm39)	V99E	probably damaging	Het
Rmc1	G	A	18: 12,313,571 (GRCm39)	R228H	probably damaging	Het
Samd9l	A	G	6: 3,376,361 (GRCm39)	V300A	probably damaging	Het
Sdad1	T	C	5: 92,451,789 (GRCm39)	D144G	probably damaging	Het
Siglecg	T	C	7: 43,058,178 (GRCm39)	Y22H	possibly damaging	Het
Slc39a1	A	G	3: 90,159,588 (GRCm39)	K305R	possibly damaging	Het
Slc5a4a	A	G	10: 76,014,034 (GRCm39)	R414G	probably damaging	Het
Smg1	T	C	7: 117,753,500 (GRCm39)		probably benign	Het
Tbc1d9b	C	T	11: 50,022,324 (GRCm39)	A20V	possibly damaging	Het
Tgfb3	G	T	12: 86,110,638 (GRCm39)	D237E	probably benign	Het
Tle6	A	G	10: 81,431,073 (GRCm39)	S234P	probably benign	Het
Tnrc6b	A	G	15: 80,763,815 (GRCm39)	N439S	probably benign	Het
Trim33	T	C	3: 103,248,925 (GRCm39)	S783P	probably benign	Het
Ttn	A	T	2: 76,632,698 (GRCm39)	Y12373N	probably damaging	Het
Tube1	G	A	10: 39,010,097 (GRCm39)	V7I	probably benign	Het
Tufm	T	C	7: 126,088,410 (GRCm39)	V265A	probably benign	Het
Usp32	T	C	11: 84,877,402 (GRCm39)	H1550R	possibly damaging	Het
Usp33	A	T	3: 152,081,887 (GRCm39)	M546L	probably damaging	Het
Uspl1	C	A	5: 149,151,097 (GRCm39)	Q752K	probably benign	Het
Vmn1r20	A	G	6: 57,408,655 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,659,521 (GRCm39)	F245S	probably damaging	Het
Vmn2r3	A	G	3: 64,186,182 (GRCm39)	S168P	probably damaging	Het
Wdr24	T	G	17: 26,044,650 (GRCm39)	D168E	possibly damaging	Het
Zfp646	C	T	7: 127,482,853 (GRCm39)	P1677S	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
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
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'- TTCATTCCAAGTGCATTTCCAG -3'
(R):5'- TCTTTCCACCAGAAGCCATC -3'

Sequencing Primer
(F):5'- AAGTGCATTTCCAGTGTTTCTGC -3'
(R):5'- GCCATCTTACCTCACCCTGAAGG -3'

Posted On

2018-04-02