Mutagenetix > Incidental Mutation

Incidental Mutation 'R0245:Gucy1a1'

36148

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

038483-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R0245 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81999734-82053096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82016094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 298 (I298T)

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: I298T

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000048918
Gene: ENSMUSG00000033910
AA Change: I298T

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: I298T

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142138
Gene: ENSMUSG00000033910
AA Change: I298T

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

Meta Mutation Damage Score

0.4637

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.9%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 125,378,168 (GRCm39)		probably benign	Het
Actmap	T	A	7: 26,900,028 (GRCm39)	C98S	possibly damaging	Het
Adgrg6	T	A	10: 14,333,810 (GRCm39)		probably benign	Het
Adra2a	G	C	19: 54,035,840 (GRCm39)	V399L	probably damaging	Het
Arpc1b	A	G	5: 145,063,670 (GRCm39)	D306G	probably damaging	Het
Asic3	C	A	5: 24,618,836 (GRCm39)	R43S	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Btbd2	A	T	10: 80,483,640 (GRCm39)	Y178N	probably damaging	Het
Cacna1c	T	C	6: 118,581,415 (GRCm39)	N1647D	probably benign	Het
Cacna2d4	A	T	6: 119,285,682 (GRCm39)	D803V	probably damaging	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cmpk2	A	T	12: 26,519,517 (GRCm39)	D56V	probably benign	Het
Dnah7a	T	C	1: 53,540,685 (GRCm39)	Y2563C	probably damaging	Het
Dock7	T	C	4: 98,943,586 (GRCm39)	D552G	possibly damaging	Het
E2f7	C	A	10: 110,610,656 (GRCm39)	S427*	probably null	Het
Eps8	T	C	6: 137,456,126 (GRCm39)	D785G	probably benign	Het
Ereg	G	A	5: 91,222,659 (GRCm39)	C14Y	possibly damaging	Het
Fah	A	C	7: 84,244,706 (GRCm39)	H222Q	probably benign	Het
Fbxw16	T	A	9: 109,265,236 (GRCm39)	S432C	possibly damaging	Het
Fdps	A	G	3: 89,001,078 (GRCm39)	S334P	possibly damaging	Het
Fgf7	A	G	2: 125,877,875 (GRCm39)	K81E	probably benign	Het
Gfra1	T	C	19: 58,288,986 (GRCm39)	N153S	possibly damaging	Het
Golga1	A	G	2: 38,925,271 (GRCm39)	V351A	probably benign	Het
Got1	A	T	19: 43,492,946 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,746,457 (GRCm39)	Y1271C	probably damaging	Het
Gtf3c4	A	G	2: 28,724,976 (GRCm39)	I252T	possibly damaging	Het
Hivep1	A	G	13: 42,317,766 (GRCm39)	I2081V	possibly damaging	Het
Hps3	A	T	3: 20,066,960 (GRCm39)	C535*	probably null	Het
Hspg2	T	C	4: 137,242,033 (GRCm39)	F589S	probably damaging	Het
Itgb8	T	A	12: 119,154,290 (GRCm39)	N249I	probably damaging	Het
Itprid1	A	G	6: 55,874,992 (GRCm39)	E314G	probably damaging	Het
Kdm4a	T	C	4: 118,032,886 (GRCm39)	D60G	probably benign	Het
Kng2	A	T	16: 22,830,931 (GRCm39)		probably benign	Het
Marchf4	A	T	1: 72,573,940 (GRCm39)	D119E	probably benign	Het
Mrpl34	T	C	8: 71,917,719 (GRCm39)		probably benign	Het
Ncoa6	C	T	2: 155,233,131 (GRCm39)	G2059D	probably benign	Het
Nhsl1	A	G	10: 18,400,856 (GRCm39)	K660R	probably damaging	Het
Nr2c2ap	T	C	8: 70,584,228 (GRCm39)	V6A	possibly damaging	Het
Or10j3b	T	A	1: 173,043,524 (GRCm39)	I102N	possibly damaging	Het
Or4c29	C	A	2: 88,740,219 (GRCm39)	D173Y	possibly damaging	Het
Or4k52	A	G	2: 111,610,680 (GRCm39)	N5S	probably damaging	Het
Or5k14	A	T	16: 58,693,229 (GRCm39)	Y95N	probably benign	Het
Or7g33	C	A	9: 19,448,408 (GRCm39)	V273L	probably benign	Het
Oscar	C	T	7: 3,614,573 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,610,624 (GRCm39)	S1046G	probably benign	Het
Ptk6	T	C	2: 180,844,284 (GRCm39)	D5G	probably benign	Het
Rgs12	A	G	5: 35,187,424 (GRCm39)	H486R	probably benign	Het
Rnf111	C	T	9: 70,361,113 (GRCm39)		probably benign	Het
Rnf17	A	G	14: 56,676,066 (GRCm39)	Y309C	probably damaging	Het
Rnf19a	A	T	15: 36,253,178 (GRCm39)	I387N	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sdk1	A	G	5: 141,940,713 (GRCm39)	T494A	probably benign	Het
Serac1	G	T	17: 6,102,031 (GRCm39)	D384E	probably damaging	Het
Sez6l	T	C	5: 112,623,432 (GRCm39)	M40V	probably benign	Het
Slc17a5	A	G	9: 78,448,206 (GRCm39)	I416T	probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata32	C	T	11: 103,099,921 (GRCm39)	A195T	probably damaging	Het
Srrd	A	G	5: 112,485,394 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,067 (GRCm39)		probably benign	Het
Supt3	T	C	17: 45,347,662 (GRCm39)	V208A	probably benign	Het
Taok3	G	A	5: 117,390,744 (GRCm39)		probably benign	Het
Tbxas1	G	T	6: 39,004,702 (GRCm39)	R316S	probably benign	Het
Tgfbrap1	A	T	1: 43,114,752 (GRCm39)	I116N	possibly damaging	Het
Tm7sf3	T	C	6: 146,520,107 (GRCm39)	T260A	possibly damaging	Het
Top2a	T	C	11: 98,900,922 (GRCm39)	I556V	probably benign	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Xpo4	G	T	14: 57,867,697 (GRCm39)	H183Q	probably damaging	Het
Zcchc17	T	A	4: 130,230,947 (GRCm39)	I81L	probably benign	Het
Zfp455	A	T	13: 67,355,899 (GRCm39)	Y389F	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
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
R2056:Gucy1a1	UTSW	3	82,016,592 (GRCm39)	missense	possibly damaging	0.89
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'- TCTCCTCACCCGGATGACAAACTG -3'
(R):5'- GATGCCTCCATCTTATGCCTGGAC -3'

Sequencing Primer
(F):5'- CGGATGACAAACTGCATGTTC -3'
(R):5'- TCTTATGCCTGGACAAGGAC -3'

Posted On

2013-05-09