Mutagenetix > Incidental Mutation

Incidental Mutation 'R1670:Gucy1b1'

187528

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

039706-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R1670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81939313-81981996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81952767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 222 (I222T)

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: I222T

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000029635
Gene: ENSMUSG00000028005
AA Change: I222T

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: I222T

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000142119
Gene: ENSMUSG00000028005
AA Change: I222T

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

0.5027

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (74/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,540,448 (GRCm39)	V1497A	possibly damaging	Het
Adam15	T	C	3: 89,255,817 (GRCm39)		probably benign	Het
Angel2	T	A	1: 190,674,360 (GRCm39)	S371T	probably benign	Het
Atr	T	A	9: 95,743,509 (GRCm39)	N49K	probably benign	Het
Bace2	G	A	16: 97,213,335 (GRCm39)	M228I	probably damaging	Het
Bdp1	A	C	13: 100,163,941 (GRCm39)		probably null	Het
Calr	A	T	8: 85,570,748 (GRCm39)	D302E	probably benign	Het
Camta1	T	C	4: 151,164,228 (GRCm39)	D340G	probably benign	Het
Car11	C	T	7: 45,352,949 (GRCm39)	T236I	possibly damaging	Het
Cfap69	A	T	5: 5,636,409 (GRCm39)	S275T	probably benign	Het
Cib2	G	A	9: 54,455,653 (GRCm39)	R104W	probably damaging	Het
CN725425	T	C	15: 91,130,018 (GRCm39)	S294P	possibly damaging	Het
Coro7	G	A	16: 4,446,097 (GRCm39)	S876F	possibly damaging	Het
Cspg4	G	A	9: 56,804,687 (GRCm39)	V1833M	probably damaging	Het
Dennd6b	C	A	15: 89,069,540 (GRCm39)		probably benign	Het
Dhx30	A	T	9: 109,914,341 (GRCm39)	Y979N	possibly damaging	Het
Dnaaf9	G	A	2: 130,554,299 (GRCm39)	P187S	probably damaging	Het
Dnah8	A	T	17: 30,944,098 (GRCm39)	I1772F	probably damaging	Het
Dync2h1	A	T	9: 6,993,942 (GRCm39)	I3976N	possibly damaging	Het
Ebi3	T	C	17: 56,261,479 (GRCm39)	I125T	probably damaging	Het
Elfn2	C	T	15: 78,556,568 (GRCm39)	A660T	probably benign	Het
F12	C	T	13: 55,569,346 (GRCm39)	C209Y	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr2	T	A	7: 129,782,187 (GRCm39)	D413V	probably damaging	Het
Gdf10	T	A	14: 33,654,000 (GRCm39)	I169N	possibly damaging	Het
Gdnf	T	C	15: 7,845,130 (GRCm39)	V41A	probably benign	Het
Gm9857	A	T	3: 108,847,478 (GRCm39)		probably benign	Het
Gpatch11	A	G	17: 79,146,529 (GRCm39)	E58G	possibly damaging	Het
Gpr55	A	G	1: 85,869,137 (GRCm39)	V148A	possibly damaging	Het
Hnf4a	T	C	2: 163,404,496 (GRCm39)	S227P	probably damaging	Het
Hsfy2	A	G	1: 56,675,548 (GRCm39)	S330P	possibly damaging	Het
Hycc1	T	A	5: 24,204,989 (GRCm39)	M1L	possibly damaging	Het
Ift122	T	C	6: 115,900,844 (GRCm39)	V1054A	probably benign	Het
Il27	T	A	7: 126,188,647 (GRCm39)	E175D	probably benign	Het
Lactb2	A	T	1: 13,730,641 (GRCm39)	S12T	probably damaging	Het
Lrfn2	T	C	17: 49,403,605 (GRCm39)	V576A	probably benign	Het
Mansc4	C	G	6: 146,976,689 (GRCm39)	R309T	possibly damaging	Het
Med12l	AACAGCA	AACAGCAACAGCA	3: 59,183,379 (GRCm39)		probably benign	Het
Mrpl16	C	T	19: 11,751,959 (GRCm39)	R240*	probably null	Het
Muc17	A	G	5: 137,172,843 (GRCm39)	V70A	probably benign	Het
Ndnf	A	G	6: 65,680,054 (GRCm39)	D111G	probably benign	Het
Nek4	T	C	14: 30,704,384 (GRCm39)	F688S	probably damaging	Het
Nkx2-6	T	A	14: 69,412,126 (GRCm39)	M98K	probably benign	Het
Nup188	T	C	2: 30,230,667 (GRCm39)	S1402P	probably benign	Het
Or10j2	T	A	1: 173,098,467 (GRCm39)	S242T	probably damaging	Het
Or2t48	A	T	11: 58,420,237 (GRCm39)	S192T	probably damaging	Het
Or4f14b	C	T	2: 111,775,264 (GRCm39)	C179Y	probably damaging	Het
Or52i2	A	G	7: 102,319,609 (GRCm39)	T161A	possibly damaging	Het
Or5ac23	A	T	16: 59,149,607 (GRCm39)	N88K	probably benign	Het
Or5ac24	T	C	16: 59,165,790 (GRCm39)	I91M	possibly damaging	Het
Or5m9b	T	A	2: 85,905,594 (GRCm39)	V170D	probably benign	Het
Parp10	A	T	15: 76,126,270 (GRCm39)	V306E	probably benign	Het
Pcnx3	A	G	19: 5,723,343 (GRCm39)	L1284P	probably damaging	Het
Pld1	A	T	3: 28,103,389 (GRCm39)	I365F	probably benign	Het
Pnisr	A	G	4: 21,865,893 (GRCm39)	D294G	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Ptprn2	A	C	12: 116,685,792 (GRCm39)	T84P	possibly damaging	Het
Rln1	C	T	19: 29,309,468 (GRCm39)	E104K	possibly damaging	Het
Rnf38	A	G	4: 44,138,681 (GRCm39)	S271P	probably damaging	Het
Rngtt	A	G	4: 33,368,660 (GRCm39)	T398A	probably benign	Het
Rprd2	G	T	3: 95,672,115 (GRCm39)	T1096K	probably damaging	Het
Sema3e	C	T	5: 14,212,199 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,548,945 (GRCm39)	C140S	probably damaging	Het
Shpk	A	C	11: 73,113,757 (GRCm39)	D390A	probably benign	Het
Slc22a20	C	T	19: 6,022,876 (GRCm39)		probably benign	Het
Steap2	A	G	5: 5,727,393 (GRCm39)	V314A	possibly damaging	Het
Stxbp5l	A	G	16: 37,111,289 (GRCm39)		probably null	Het
Tgm3	G	T	2: 129,883,688 (GRCm39)	E449*	probably null	Het
Tmem68	A	C	4: 3,560,627 (GRCm39)	L186V	probably damaging	Het
Ttc41	T	A	10: 86,612,116 (GRCm39)	W1130R	possibly damaging	Het
Ttpal	T	C	2: 163,457,286 (GRCm39)	F253L	possibly damaging	Het
Vmn2r99	G	T	17: 19,582,514 (GRCm39)	V40F	probably benign	Het
Xkr9	G	A	1: 13,771,167 (GRCm39)	V228M	probably damaging	Het
Zc3h7b	C	T	15: 81,661,268 (GRCm39)	A369V	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
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
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

2014-05-09