Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02442:Gucy1a2'

293463

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gucy1a2

Ensembl Gene

ENSMUSG00000041624

Gene Name

guanylate cyclase 1, soluble, alpha 2

Synonyms

6330407I18Rik, A230060L24Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.378) question?

Stock #

IGL02442

Quality Score

Status

Chromosome

Chromosomal Location

3532778-3894736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3865385 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 620 (V620M)

Ref Sequence

ENSEMBL: ENSMUSP00000111398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115733]

Predicted Effect

probably damaging
Transcript: ENSMUST00000115733
AA Change: V620M

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

SMART Domains

Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: V620M

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	51	72	N/A	INTRINSIC
Pfam:HNOB	121	268	3e-19	PFAM
PDB:4GJ4\|D	316	441	1e-17	PDB
CYCc	483	674	6.58e-93	SMART
low complexity region	701	715	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null mutation display normal blood vessel and platelet physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	T	C	11: 101,990,826	V116A	probably benign	Het
Adap2	A	G	11: 80,177,206	E348G	probably damaging	Het
Ahnak	G	A	19: 9,004,016	G888D	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csde1	T	C	3: 103,054,819	C649R	probably benign	Het
Cym	A	C	3: 107,214,285	D230E	probably damaging	Het
Dnah1	A	T	14: 31,287,878	I1911N	probably damaging	Het
Fam60a	A	T	6: 148,928,507		probably null	Het
Fat1	A	G	8: 44,950,323	H37R	probably benign	Het
Ggt6	T	C	11: 72,436,806	V146A	possibly damaging	Het
Glud1	T	A	14: 34,335,438	L54*	probably null	Het
Grk6	A	G	13: 55,458,937		probably benign	Het
Gsta4	G	A	9: 78,209,165	V219I	probably benign	Het
Hspe1	T	C	1: 55,089,042		probably benign	Het
Icmt	T	C	4: 152,298,716	V76A	possibly damaging	Het
Ifrd1	A	G	12: 40,216,317		probably benign	Het
Lgals12	T	C	19: 7,606,654		probably benign	Het
Lypla1	T	C	1: 4,832,387		probably benign	Het
Map1b	A	T	13: 99,508,198	W66R	probably damaging	Het
Matn3	T	A	12: 8,967,678	C443*	probably null	Het
Mup8	T	A	4: 60,219,695	R191W	probably damaging	Het
Mycbp2	T	C	14: 103,314,375	K140R	probably benign	Het
Ndfip1	C	T	18: 38,447,736	S66L	probably damaging	Het
Neu1	A	G	17: 34,934,469	I323V	probably benign	Het
Nup205	A	T	6: 35,190,068	T341S	probably benign	Het
Olfr1303	G	A	2: 111,813,991	T245I	probably benign	Het
Olfr1466	T	A	19: 13,342,120	C121S	probably benign	Het
Olfr1469	T	A	19: 13,410,987	N139K	probably benign	Het
Ovch2	T	A	7: 107,796,548	I88F	possibly damaging	Het
Pkd1	T	A	17: 24,565,226	S249T	probably benign	Het
Plekhg3	A	T	12: 76,578,353	Q1324L	probably benign	Het
Ppara	T	A	15: 85,801,143	V431E	probably benign	Het
Prkaa1	T	G	15: 5,176,888	H408Q	probably damaging	Het
Sap25	T	A	5: 137,641,995	N108K	probably benign	Het
Setd5	A	C	6: 113,110,380	I81L	possibly damaging	Het
Sri	T	A	5: 8,062,411	M78K	probably damaging	Het
Tyro3	A	G	2: 119,808,868	N352S	probably benign	Het
Ubr5	T	A	15: 38,037,901	E332V	possibly damaging	Het
Vmn2r19	G	T	6: 123,309,662	V85F	possibly damaging	Het
Vmn2r53	A	T	7: 12,581,729	V721D	probably damaging	Het
Vwa5a	A	G	9: 38,734,784	M483V	probably benign	Het
Zfp786	T	A	6: 47,821,367	Q212H	probably benign	Het

Other mutations in Gucy1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Gucy1a2	APN	9	3759418	missense	probably damaging	1.00
IGL00768:Gucy1a2	APN	9	3635111	missense	possibly damaging	0.65
IGL00928:Gucy1a2	APN	9	3759777	missense	probably damaging	1.00
IGL01520:Gucy1a2	APN	9	3759561	missense	probably damaging	0.99
IGL01566:Gucy1a2	APN	9	3634661	missense	probably damaging	1.00
IGL01819:Gucy1a2	APN	9	3865409	nonsense	probably null
IGL01874:Gucy1a2	APN	9	3797343	missense	probably damaging	1.00
IGL02608:Gucy1a2	APN	9	3635113	missense	probably damaging	0.99
IGL02612:Gucy1a2	APN	9	3894556	missense	possibly damaging	0.74
IGL02719:Gucy1a2	APN	9	3894719	utr 3 prime	probably benign
IGL02823:Gucy1a2	APN	9	3894656	missense	possibly damaging	0.79
IGL02852:Gucy1a2	APN	9	3759691	missense	probably benign	0.31
IGL02892:Gucy1a2	APN	9	3634471	missense	probably damaging	1.00
IGL02964:Gucy1a2	APN	9	3759542	missense	probably damaging	0.96
Rico	UTSW	9	3579513	splice site	probably null
R0096:Gucy1a2	UTSW	9	3758928	intron	probably benign
R0417:Gucy1a2	UTSW	9	3759484	missense	possibly damaging	0.80
R0920:Gucy1a2	UTSW	9	3759472	missense	probably damaging	1.00
R1146:Gucy1a2	UTSW	9	3759830	missense	probably damaging	1.00
R1146:Gucy1a2	UTSW	9	3759830	missense	probably damaging	1.00
R1384:Gucy1a2	UTSW	9	3759620	missense	probably damaging	1.00
R1631:Gucy1a2	UTSW	9	3533052	missense	probably damaging	1.00
R1711:Gucy1a2	UTSW	9	3759622	missense	probably benign	0.04
R1730:Gucy1a2	UTSW	9	3634957	missense	probably benign	0.36
R1800:Gucy1a2	UTSW	9	3582685	missense	possibly damaging	0.62
R2069:Gucy1a2	UTSW	9	3582697	missense	probably damaging	1.00
R2166:Gucy1a2	UTSW	9	3579513	splice site	probably null
R2357:Gucy1a2	UTSW	9	3797299	missense	probably damaging	0.97
R3401:Gucy1a2	UTSW	9	3635154	missense	probably benign	0.00
R3953:Gucy1a2	UTSW	9	3582704	splice site	probably benign
R4420:Gucy1a2	UTSW	9	3634640	missense	probably damaging	1.00
R4731:Gucy1a2	UTSW	9	3759424	missense	probably benign	0.02
R4732:Gucy1a2	UTSW	9	3759424	missense	probably benign	0.02
R4733:Gucy1a2	UTSW	9	3759424	missense	probably benign	0.02
R4931:Gucy1a2	UTSW	9	3759588	missense	probably damaging	1.00
R5094:Gucy1a2	UTSW	9	3865443	missense	probably damaging	1.00
R5852:Gucy1a2	UTSW	9	3865460	missense	probably damaging	0.99
R6005:Gucy1a2	UTSW	9	3865518	splice site	probably null
R7667:Gucy1a2	UTSW	9	3759580	missense	probably damaging	1.00
R7841:Gucy1a2	UTSW	9	3634766	missense	probably benign	0.03
R7866:Gucy1a2	UTSW	9	3532804	start codon destroyed	probably null
R8525:Gucy1a2	UTSW	9	3865365	missense	probably damaging	1.00
R8802:Gucy1a2	UTSW	9	3635050	missense	probably benign	0.03
Z1176:Gucy1a2	UTSW	9	3635156	missense	probably damaging	1.00
Z1177:Gucy1a2	UTSW	9	3797245	missense	probably damaging	0.97

Posted On

2015-04-16