Mutagenetix > Incidental Mutation

Incidental Mutation 'R2056:Gucy1a1'

228167

Institutional Source

Beutler Lab

Gene Symbol

Gucy1a1

Ensembl Gene

ENSMUSG00000033910

Gene Name

guanylate cyclase 1, soluble, alpha 1

Synonyms

1200016O07Rik, alpha 1 sGC, sGC-alpha1, Gucy1a3

MMRRC Submission

040061-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R2056 (G1)

Quality Score

136

Status

Not validated

Chromosome

Chromosomal Location

81999734-82053096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82016592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 132 (L132P)

Ref Sequence

ENSEMBL: ENSMUSP00000142138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048976] [ENSMUST00000193924]

AlphaFold

Q9ERL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048976
AA Change: L132P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048918
Gene: ENSMUSG00000033910
AA Change: L132P

Domain	Start	End	E-Value	Type
Pfam:HNOB	85	235	2.5e-8	PFAM
PDB:4GJ4\|D	277	403	1e-18	PDB
CYCc	445	636	4.71e-103	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191942

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193924
AA Change: L132P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142138
Gene: ENSMUSG00000033910
AA Change: L132P

Domain	Start	End	E-Value	Type
Pfam:HNOB	73	237	1.6e-7	PFAM
PDB:4GJ4\|D	277	403	1e-18	PDB
CYCc	445	636	4.71e-103	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null mutation display mild elevation of systolic blood pressure, and abnormal blood vessel and platelet responses to NO. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,667,525 (GRCm39)	V129A	probably benign	Het
Adh1	A	G	3: 137,992,676 (GRCm39)	D264G	probably damaging	Het
Ahnak2	T	A	12: 112,748,626 (GRCm39)	D407V	probably benign	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,809,553 (GRCm39)	I662V	possibly damaging	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apc	A	G	18: 34,449,481 (GRCm39)	R2092G	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Brap	G	A	5: 121,801,529 (GRCm39)	G95S	probably damaging	Het
Cbfa2t2	G	A	2: 154,377,077 (GRCm39)	A587T	probably damaging	Het
Ccdc180	A	G	4: 45,932,477 (GRCm39)	I1308V	probably benign	Het
Ccser1	T	A	6: 61,399,936 (GRCm39)		probably null	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Cntln	G	A	4: 84,967,911 (GRCm39)	R710K	probably benign	Het
Csn1s1	A	T	5: 87,819,387 (GRCm39)	T15S	possibly damaging	Het
Cul9	T	C	17: 46,854,298 (GRCm39)	T135A	probably benign	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dhx38	G	T	8: 110,289,352 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,336,251 (GRCm39)	I85N	possibly damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dscaml1	A	G	9: 45,661,430 (GRCm39)	D1776G	probably damaging	Het
Erbin	A	G	13: 103,966,824 (GRCm39)	S1209P	probably benign	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fbxo45	G	T	16: 32,057,346 (GRCm39)	Q183K	possibly damaging	Het
Frmd4b	C	T	6: 97,389,448 (GRCm39)		probably null	Het
Fzd7	A	G	1: 59,523,361 (GRCm39)	S415G	probably benign	Het
Gpd2	T	A	2: 57,229,025 (GRCm39)		probably null	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gstcd	T	C	3: 132,787,814 (GRCm39)	I295V	probably benign	Het
Il12b	A	C	11: 44,298,727 (GRCm39)	T61P	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Itih3	A	C	14: 30,631,481 (GRCm39)		probably null	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Kif11	A	G	19: 37,390,660 (GRCm39)	N408D	probably benign	Het
Kng2	TATGACCATGACCATGACCATGACCATGACCATGACCAT	TATGACCATGACCATGACCATGACCATGACCAT	16: 22,806,703 (GRCm39)		probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Krt9	G	T	11: 100,082,321 (GRCm39)	N201K	probably damaging	Het
Lmbr1	G	A	5: 29,438,092 (GRCm39)	P304L	probably benign	Het
Lrrfip1	A	G	1: 91,043,539 (GRCm39)	N648S	probably benign	Het
Mab21l3	C	A	3: 101,722,469 (GRCm39)	V386L	possibly damaging	Het
Mamdc4	T	C	2: 25,454,180 (GRCm39)	Q1149R	probably benign	Het
Mast1	A	G	8: 85,646,995 (GRCm39)	F677L	possibly damaging	Het
Mcoln3	A	G	3: 145,833,979 (GRCm39)	D173G	probably benign	Het
Mmrn1	C	T	6: 60,921,789 (GRCm39)	T82I	probably benign	Het
Mtcl2	C	T	2: 156,864,747 (GRCm39)	G1154S	probably benign	Het
Muc5ac	A	G	7: 141,345,772 (GRCm39)	T203A	probably benign	Het
Myo9b	T	C	8: 71,812,334 (GRCm39)	I2035T	possibly damaging	Het
Ndst3	T	C	3: 123,465,534 (GRCm39)	N146S	probably damaging	Het
Neu4	A	G	1: 93,950,172 (GRCm39)	T21A	possibly damaging	Het
Nos1ap	G	A	1: 170,155,215 (GRCm39)	L267F	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or3a4	A	T	11: 73,944,819 (GRCm39)	Y255*	probably null	Het
Or4p8	A	G	2: 88,727,105 (GRCm39)	F279L	probably damaging	Het
Phc1	T	C	6: 122,310,299 (GRCm39)	N136S	probably damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Psd2	A	G	18: 36,139,744 (GRCm39)	D596G	possibly damaging	Het
Psmc3	T	C	2: 90,888,433 (GRCm39)	F315L	probably benign	Het
Rerg	G	A	6: 137,034,878 (GRCm39)	T42I	probably benign	Het
Rif1	T	A	2: 51,983,588 (GRCm39)	M577K	probably damaging	Het
Sap30	T	C	8: 57,940,282 (GRCm39)		probably null	Het
Scn2b	T	C	9: 45,036,815 (GRCm39)	Y108H	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb2	T	C	1: 107,451,543 (GRCm39)	V232A	probably damaging	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Slc27a4	T	C	2: 29,700,953 (GRCm39)	W320R	probably damaging	Het
Spmip4	T	C	6: 50,550,725 (GRCm39)	R575G	possibly damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thbs4	T	A	13: 92,927,387 (GRCm39)	D34V	probably benign	Het
Tlcd4	T	G	3: 121,001,070 (GRCm39)	I188L	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmod2	T	C	9: 75,484,524 (GRCm39)	E248G	probably benign	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ttn	T	C	2: 76,615,882 (GRCm39)	D8360G	possibly damaging	Het
Unc80	A	G	1: 66,679,711 (GRCm39)	E2094G	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,160 (GRCm39)	D321E	probably damaging	Het

Other mutations in Gucy1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Gucy1a1	APN	3	82,018,498 (GRCm39)	missense	probably benign	0.00
IGL01626:Gucy1a1	APN	3	82,015,926 (GRCm39)	missense	probably damaging	1.00
IGL01662:Gucy1a1	APN	3	82,016,560 (GRCm39)	missense	possibly damaging	0.63
IGL02480:Gucy1a1	APN	3	82,005,040 (GRCm39)	missense	probably damaging	1.00
IGL02902:Gucy1a1	APN	3	82,026,224 (GRCm39)	missense	possibly damaging	0.87
IGL03022:Gucy1a1	APN	3	82,016,404 (GRCm39)	missense	probably benign	0.30
IGL03056:Gucy1a1	APN	3	82,020,594 (GRCm39)	missense	probably benign	0.00
IGL03089:Gucy1a1	APN	3	82,004,988 (GRCm39)	missense	probably damaging	1.00
IGL03226:Gucy1a1	APN	3	82,026,331 (GRCm39)	missense	probably benign	0.00
IGL03377:Gucy1a1	APN	3	82,013,322 (GRCm39)	missense	probably damaging	1.00
R0245:Gucy1a1	UTSW	3	82,016,094 (GRCm39)	missense	possibly damaging	0.67
R0762:Gucy1a1	UTSW	3	82,002,203 (GRCm39)	missense	unknown
R0907:Gucy1a1	UTSW	3	82,018,498 (GRCm39)	missense	probably benign	0.00
R1242:Gucy1a1	UTSW	3	82,013,260 (GRCm39)	splice site	probably null
R1625:Gucy1a1	UTSW	3	82,009,362 (GRCm39)	missense	probably benign	0.02
R1671:Gucy1a1	UTSW	3	82,013,529 (GRCm39)	missense	probably damaging	1.00
R2094:Gucy1a1	UTSW	3	82,020,639 (GRCm39)	missense	probably benign
R2140:Gucy1a1	UTSW	3	82,026,193 (GRCm39)	splice site	probably null
R2154:Gucy1a1	UTSW	3	82,018,458 (GRCm39)	critical splice donor site	probably null
R3418:Gucy1a1	UTSW	3	82,013,440 (GRCm39)	missense	probably damaging	1.00
R3419:Gucy1a1	UTSW	3	82,013,440 (GRCm39)	missense	probably damaging	1.00
R4290:Gucy1a1	UTSW	3	82,002,066 (GRCm39)	missense	possibly damaging	0.95
R4291:Gucy1a1	UTSW	3	82,002,066 (GRCm39)	missense	possibly damaging	0.95
R4292:Gucy1a1	UTSW	3	82,002,066 (GRCm39)	missense	possibly damaging	0.95
R4294:Gucy1a1	UTSW	3	82,002,066 (GRCm39)	missense	possibly damaging	0.95
R4573:Gucy1a1	UTSW	3	82,016,229 (GRCm39)	missense	possibly damaging	0.95
R4629:Gucy1a1	UTSW	3	82,004,931 (GRCm39)	missense	probably damaging	1.00
R4755:Gucy1a1	UTSW	3	82,002,102 (GRCm39)	missense	probably benign	0.40
R4865:Gucy1a1	UTSW	3	82,026,469 (GRCm39)	utr 5 prime	probably benign
R5528:Gucy1a1	UTSW	3	82,016,380 (GRCm39)	missense	probably damaging	1.00
R5933:Gucy1a1	UTSW	3	82,002,114 (GRCm39)	missense	probably damaging	0.96
R6278:Gucy1a1	UTSW	3	82,004,941 (GRCm39)	missense	probably damaging	1.00
R6385:Gucy1a1	UTSW	3	82,016,313 (GRCm39)	missense	probably benign
R7011:Gucy1a1	UTSW	3	82,016,422 (GRCm39)	missense	probably damaging	1.00
R7361:Gucy1a1	UTSW	3	82,005,027 (GRCm39)	missense	probably damaging	1.00
R7648:Gucy1a1	UTSW	3	82,016,014 (GRCm39)	missense	possibly damaging	0.63
R7709:Gucy1a1	UTSW	3	82,002,096 (GRCm39)	missense	unknown
R7770:Gucy1a1	UTSW	3	82,016,112 (GRCm39)	missense	possibly damaging	0.95
R8443:Gucy1a1	UTSW	3	82,005,000 (GRCm39)	missense	probably damaging	1.00
R8531:Gucy1a1	UTSW	3	82,018,468 (GRCm39)	missense	probably benign
R8872:Gucy1a1	UTSW	3	82,016,049 (GRCm39)	missense	probably damaging	0.99
R9055:Gucy1a1	UTSW	3	82,016,433 (GRCm39)	missense	possibly damaging	0.73
R9168:Gucy1a1	UTSW	3	82,009,353 (GRCm39)	missense	probably damaging	0.97
R9231:Gucy1a1	UTSW	3	82,013,308 (GRCm39)	missense	probably damaging	1.00
R9316:Gucy1a1	UTSW	3	82,016,250 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TTGTCCAGGCATAAGATGGAG -3'
(R):5'- CTGGTGCTCAGAGTCACAAG -3'

Sequencing Primer
(F):5'- CATAAGATGGAGGCATCTTCCAGTC -3'
(R):5'- TGCTCAGAGTCACAAGAGTTC -3'

Posted On

2014-09-17