Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01819:Gucy1a2'

154460

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: 0.319) question?

Stock #

IGL01819

Quality Score

Status

Chromosome

Chromosomal Location

3532778-3894736 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 3865409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 628 (R628*)

Ref Sequence

ENSEMBL: ENSMUSP00000111398 (fasta)

Gene Model

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

AlphaFold

F8VQK3

Predicted Effect

probably null
Transcript: ENSMUST00000115733
AA Change: R628*

SMART Domains

Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: R628*

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,584,561	S105P	probably benign	Het
Adora2b	A	G	11: 62,265,184	N153S	possibly damaging	Het
Afm	C	T	5: 90,524,906	T200I	probably benign	Het
Cyp2c67	T	C	19: 39,615,721	D397G	probably damaging	Het
Dnah9	A	G	11: 66,108,126	V1032A	probably benign	Het
Elovl7	T	G	13: 108,274,320	V143G	probably damaging	Het
Fhl4	T	C	10: 85,098,870	K16E	probably damaging	Het
Golga1	C	T	2: 39,034,149	C383Y	probably benign	Het
Hectd4	A	G	5: 121,328,418	D2432G	possibly damaging	Het
Iqcf5	T	A	9: 106,515,990	*149R	probably null	Het
Kcnab1	T	A	3: 65,319,454	Y185N	probably damaging	Het
Lars	G	T	18: 42,202,550	T1167K	probably benign	Het
Mib2	A	T	4: 155,655,258		probably null	Het
Mrps2	T	C	2: 28,468,336	V46A	probably benign	Het
Myo18b	T	C	5: 112,878,050	T45A	unknown	Het
Myo1e	C	T	9: 70,343,040		probably benign	Het
Olfr1129	A	G	2: 87,575,479	I132V	probably damaging	Het
Olfr1285	T	A	2: 111,408,733	V106E	probably damaging	Het
Osbp2	A	T	11: 3,717,127	I8N	probably damaging	Het
Pcdhb22	A	T	18: 37,519,921	N481Y	probably damaging	Het
Pde3a	T	C	6: 141,487,537	W765R	probably damaging	Het
Phf11c	T	C	14: 59,393,137	T40A	probably benign	Het
Pih1d2	T	A	9: 50,621,877	S268R	probably benign	Het
Pkd1l2	T	C	8: 116,998,174	N2333D	probably damaging	Het
Prex1	A	G	2: 166,621,245	I62T	probably damaging	Het
Ptcd2	T	C	13: 99,326,711	N245S	possibly damaging	Het
Ripor3	C	A	2: 167,980,843	V933F	probably damaging	Het
Sphk2	A	G	7: 45,711,056		probably null	Het
Tfcp2	T	G	15: 100,504,439	E492D	probably benign	Het
Ttn	C	T	2: 76,798,762	V14411I	possibly damaging	Het
Utp20	T	C	10: 88,792,687	Q915R	probably damaging	Het
Vmn2r45	C	A	7: 8,485,557	S158I	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
IGL01874:Gucy1a2	APN	9	3797343	missense	probably damaging	1.00
IGL02442:Gucy1a2	APN	9	3865385	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
R9098:Gucy1a2	UTSW	9	3634489	missense	probably benign	0.00
R9127:Gucy1a2	UTSW	9	3634553	missense	probably damaging	1.00
Z1176:Gucy1a2	UTSW	9	3635156	missense	probably damaging	1.00
Z1177:Gucy1a2	UTSW	9	3797245	missense	probably damaging	0.97

Posted On

2014-02-04