Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00768:Gucy1a2'

11184

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

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

IGL00768

Quality Score

Status

Chromosome

Chromosomal Location

3532778-3894736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3635111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 385 (V385A)

Ref Sequence

ENSEMBL: ENSMUSP00000111398 (fasta)

Gene Model

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

AlphaFold

F8VQK3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115733
AA Change: V385A

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: V385A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213060

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	C	T	14: 118,766,409 (GRCm39)	V888I	probably benign	Het
Apob	A	T	12: 8,052,107 (GRCm39)	N1170Y	probably damaging	Het
Clca3a1	T	C	3: 144,461,012 (GRCm39)	D213G	probably damaging	Het
Col6a6	T	C	9: 105,659,611 (GRCm39)	S445G	probably benign	Het
Dgkb	A	C	12: 38,477,478 (GRCm39)	E629D	probably benign	Het
Gabra3	T	C	X: 71,519,903 (GRCm39)	H188R	probably benign	Het
Gak	G	T	5: 108,724,520 (GRCm39)	H1063Q	probably benign	Het
Gm382	C	T	X: 125,968,366 (GRCm39)	Q184*	probably null	Het
Gpr160	T	A	3: 30,950,098 (GRCm39)	Y57N	probably damaging	Het
Khdc1b	A	T	1: 21,454,405 (GRCm39)	D36V	probably benign	Het
Tmem67	A	G	4: 12,055,029 (GRCm39)		probably null	Het
Tmpo	G	A	10: 91,000,068 (GRCm39)		probably benign	Het
Triml1	A	G	8: 43,593,998 (GRCm39)		probably benign	Het

Other mutations in Gucy1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Gucy1a2	APN	9	3,759,418 (GRCm39)	missense	probably damaging	1.00
IGL00928:Gucy1a2	APN	9	3,759,777 (GRCm39)	missense	probably damaging	1.00
IGL01520:Gucy1a2	APN	9	3,759,561 (GRCm39)	missense	probably damaging	0.99
IGL01566:Gucy1a2	APN	9	3,634,661 (GRCm39)	missense	probably damaging	1.00
IGL01819:Gucy1a2	APN	9	3,865,409 (GRCm39)	nonsense	probably null
IGL01874:Gucy1a2	APN	9	3,797,343 (GRCm39)	missense	probably damaging	1.00
IGL02442:Gucy1a2	APN	9	3,865,385 (GRCm39)	missense	probably damaging	1.00
IGL02608:Gucy1a2	APN	9	3,635,113 (GRCm39)	missense	probably damaging	0.99
IGL02612:Gucy1a2	APN	9	3,894,556 (GRCm39)	missense	possibly damaging	0.74
IGL02719:Gucy1a2	APN	9	3,894,719 (GRCm39)	utr 3 prime	probably benign
IGL02823:Gucy1a2	APN	9	3,894,656 (GRCm39)	missense	possibly damaging	0.79
IGL02852:Gucy1a2	APN	9	3,759,691 (GRCm39)	missense	probably benign	0.31
IGL02892:Gucy1a2	APN	9	3,634,471 (GRCm39)	missense	probably damaging	1.00
IGL02964:Gucy1a2	APN	9	3,759,542 (GRCm39)	missense	probably damaging	0.96
Rico	UTSW	9	3,579,513 (GRCm39)	splice site	probably null
R0096:Gucy1a2	UTSW	9	3,758,928 (GRCm39)	intron	probably benign
R0417:Gucy1a2	UTSW	9	3,759,484 (GRCm39)	missense	possibly damaging	0.80
R0920:Gucy1a2	UTSW	9	3,759,472 (GRCm39)	missense	probably damaging	1.00
R1146:Gucy1a2	UTSW	9	3,759,830 (GRCm39)	missense	probably damaging	1.00
R1146:Gucy1a2	UTSW	9	3,759,830 (GRCm39)	missense	probably damaging	1.00
R1384:Gucy1a2	UTSW	9	3,759,620 (GRCm39)	missense	probably damaging	1.00
R1631:Gucy1a2	UTSW	9	3,533,052 (GRCm39)	missense	probably damaging	1.00
R1711:Gucy1a2	UTSW	9	3,759,622 (GRCm39)	missense	probably benign	0.04
R1730:Gucy1a2	UTSW	9	3,634,957 (GRCm39)	missense	probably benign	0.36
R1800:Gucy1a2	UTSW	9	3,582,685 (GRCm39)	missense	possibly damaging	0.62
R2069:Gucy1a2	UTSW	9	3,582,697 (GRCm39)	missense	probably damaging	1.00
R2166:Gucy1a2	UTSW	9	3,579,513 (GRCm39)	splice site	probably null
R2357:Gucy1a2	UTSW	9	3,797,299 (GRCm39)	missense	probably damaging	0.97
R3401:Gucy1a2	UTSW	9	3,635,154 (GRCm39)	missense	probably benign	0.00
R3953:Gucy1a2	UTSW	9	3,582,704 (GRCm39)	splice site	probably benign
R4420:Gucy1a2	UTSW	9	3,634,640 (GRCm39)	missense	probably damaging	1.00
R4731:Gucy1a2	UTSW	9	3,759,424 (GRCm39)	missense	probably benign	0.02
R4732:Gucy1a2	UTSW	9	3,759,424 (GRCm39)	missense	probably benign	0.02
R4733:Gucy1a2	UTSW	9	3,759,424 (GRCm39)	missense	probably benign	0.02
R4931:Gucy1a2	UTSW	9	3,759,588 (GRCm39)	missense	probably damaging	1.00
R5094:Gucy1a2	UTSW	9	3,865,443 (GRCm39)	missense	probably damaging	1.00
R5852:Gucy1a2	UTSW	9	3,865,460 (GRCm39)	missense	probably damaging	0.99
R6005:Gucy1a2	UTSW	9	3,865,518 (GRCm39)	splice site	probably null
R7667:Gucy1a2	UTSW	9	3,759,580 (GRCm39)	missense	probably damaging	1.00
R7841:Gucy1a2	UTSW	9	3,634,766 (GRCm39)	missense	probably benign	0.03
R7866:Gucy1a2	UTSW	9	3,532,804 (GRCm39)	start codon destroyed	probably null
R8525:Gucy1a2	UTSW	9	3,865,365 (GRCm39)	missense	probably damaging	1.00
R8802:Gucy1a2	UTSW	9	3,635,050 (GRCm39)	missense	probably benign	0.03
R9098:Gucy1a2	UTSW	9	3,634,489 (GRCm39)	missense	probably benign	0.00
R9127:Gucy1a2	UTSW	9	3,634,553 (GRCm39)	missense	probably damaging	1.00
Z1176:Gucy1a2	UTSW	9	3,635,156 (GRCm39)	missense	probably damaging	1.00
Z1177:Gucy1a2	UTSW	9	3,797,245 (GRCm39)	missense	probably damaging	0.97

Posted On

2012-12-06