Mutagenetix > Incidental Mutation

Incidental Mutation 'R7841:Gucy1a2'

606307

Institutional Source

Beutler Lab

Gene Symbol

Gucy1a2

Ensembl Gene

ENSMUSG00000041624

Gene Name

guanylate cyclase 1, soluble, alpha 2

Synonyms

6330407I18Rik, A230060L24Rik

MMRRC Submission

045895-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.279) question?

Stock #

R7841 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3532778-3894736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3634766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 270 (E270G)

Ref Sequence

ENSEMBL: ENSMUSP00000111398 (fasta)

Gene Model

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

AlphaFold

F8VQK3

Predicted Effect

probably benign
Transcript: ENSMUST00000115733
AA Change: E270G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: E270G

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	C	5: 103,802,806 (GRCm39)	K16R	possibly damaging	Het
2810408A11Rik	A	G	11: 69,790,112 (GRCm39)	F210L	probably benign	Het
Adam6a	G	T	12: 113,509,078 (GRCm39)	D484Y	probably damaging	Het
B9d1	A	G	11: 61,397,192 (GRCm39)	Y29C	possibly damaging	Het
Cald1	T	C	6: 34,722,696 (GRCm39)	F115L	unknown	Het
Ccnd1	A	T	7: 144,491,718 (GRCm39)	M107K	probably damaging	Het
Ccnh	G	A	13: 85,337,712 (GRCm39)	A20T	probably benign	Het
Cep162	T	C	9: 87,126,369 (GRCm39)	D181G	probably benign	Het
Cep44	AACGC	A	8: 56,994,018 (GRCm39)		probably null	Het
Ces2b	A	G	8: 105,561,692 (GRCm39)	D262G	probably benign	Het
Cic	A	G	7: 24,985,192 (GRCm39)	Y1146C	probably damaging	Het
Cmtm1	G	A	8: 105,036,108 (GRCm39)	R174C	possibly damaging	Het
Cobl	G	T	11: 12,203,324 (GRCm39)	P1126H	probably damaging	Het
Col14a1	T	A	15: 55,245,876 (GRCm39)	M460K	unknown	Het
Cst11	G	A	2: 148,613,227 (GRCm39)	R33W	possibly damaging	Het
Cyp19a1	A	T	9: 54,079,089 (GRCm39)	V340E	probably benign	Het
Dbt	A	T	3: 116,339,746 (GRCm39)	Q378L	possibly damaging	Het
Dchs1	A	G	7: 105,412,180 (GRCm39)	V1312A	probably benign	Het
Eif3l	T	C	15: 78,973,779 (GRCm39)	M398T	probably benign	Het
Faxc	A	G	4: 21,958,584 (GRCm39)	H247R	probably benign	Het
Fbxl17	T	C	17: 63,794,820 (GRCm39)	R421G	probably damaging	Het
Fbxo3	T	A	2: 103,890,337 (GRCm39)	D450E	unknown	Het
Fmn1	T	C	2: 113,359,810 (GRCm39)		probably null	Het
Foxs1	T	A	2: 152,774,907 (GRCm39)	M49L	possibly damaging	Het
Helz2	T	C	2: 180,874,695 (GRCm39)	D1933G	probably damaging	Het
Hspa4	G	A	11: 53,157,887 (GRCm39)	A572V	possibly damaging	Het
Ica1	T	A	6: 8,737,072 (GRCm39)	D174V	probably damaging	Het
Igfbp6	A	T	15: 102,056,352 (GRCm39)	Q137L	possibly damaging	Het
Il1r2	T	C	1: 40,144,628 (GRCm39)	L105P	probably damaging	Het
Iqca1	A	T	1: 89,987,337 (GRCm39)	C72S		Het
Itgbl1	T	C	14: 124,209,645 (GRCm39)		probably null	Het
Ivl	T	A	3: 92,479,699 (GRCm39)	Q122L	possibly damaging	Het
Kdsr	T	C	1: 106,671,415 (GRCm39)	E198G	probably damaging	Het
Lama2	T	C	10: 27,031,529 (GRCm39)	T1510A	probably benign	Het
Lrrc37a	A	T	11: 103,391,931 (GRCm39)	Y1165N	probably benign	Het
Mycbp2	A	G	14: 103,384,267 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,989,518 (GRCm39)	E1546G	probably damaging	Het
Nacad	A	T	11: 6,551,031 (GRCm39)	V720E	probably benign	Het
Napa	A	G	7: 15,849,559 (GRCm39)	D257G	possibly damaging	Het
Nif3l1	T	C	1: 58,487,042 (GRCm39)	V76A	probably damaging	Het
Nkapd1	A	C	9: 50,521,716 (GRCm39)	S68R	probably damaging	Het
Nphp4	G	A	4: 152,581,140 (GRCm39)	S108N	probably benign	Het
Npr1	A	T	3: 90,362,175 (GRCm39)	L990H	probably damaging	Het
Nup205	A	G	6: 35,224,372 (GRCm39)	R322G	unknown	Het
Or4a79	C	A	2: 89,552,309 (GRCm39)	A49S	probably benign	Het
Or4q3	G	T	14: 50,583,285 (GRCm39)	Q174K	probably benign	Het
Or52n2c	T	A	7: 104,574,066 (GRCm39)	I302F	possibly damaging	Het
Or8c14-ps1	T	G	9: 38,101,777 (GRCm39)	M252R	unknown	Het
Or8c19-ps1	T	A	9: 38,220,817 (GRCm39)	V242E	unknown	Het
Ovch2	G	T	7: 107,393,298 (GRCm39)	Q192K	probably benign	Het
Pcca	T	A	14: 122,800,384 (GRCm39)	D91E	probably benign	Het
Pole2	T	C	12: 69,251,032 (GRCm39)	T444A	probably damaging	Het
Ppip5k1	T	C	2: 121,173,276 (GRCm39)	K466E	probably benign	Het
Prr35	A	T	17: 26,167,458 (GRCm39)	Y26*	probably null	Het
Ptgfrn	A	T	3: 100,968,126 (GRCm39)	I489N	probably damaging	Het
Rassf1	A	G	9: 107,438,744 (GRCm39)	*341W	probably null	Het
Ret	G	A	6: 118,132,321 (GRCm39)	P1040S	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Slc6a17	A	T	3: 107,384,214 (GRCm39)	Y377N	possibly damaging	Het
Snrnp200	C	A	2: 127,078,754 (GRCm39)	D1806E	probably benign	Het
Synj2	G	A	17: 6,094,419 (GRCm39)	R1215H	unknown	Het
Tbc1d5	TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG	TTGCTGCTG	17: 51,106,950 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,913,176 (GRCm39)	D85E	probably damaging	Het
Tram1l1	A	T	3: 124,115,353 (GRCm39)	Q171L	probably damaging	Het
Tram1l1	G	T	3: 124,115,354 (GRCm39)	Q171H	probably damaging	Het
Tspyl4	A	G	10: 34,174,267 (GRCm39)	H253R	probably damaging	Het
Ttn	T	C	2: 76,662,490 (GRCm39)	I23V		Het
Ubr5	T	C	15: 37,981,150 (GRCm39)	N2376D		Het
Ugt2b37	T	C	5: 87,398,489 (GRCm39)	N316D	probably benign	Het
Usp31	A	C	7: 121,247,679 (GRCm39)	S1255A	probably benign	Het
Usp31	A	T	7: 121,276,535 (GRCm39)	V334E	probably damaging	Het
Vmn2r108	A	G	17: 20,690,305 (GRCm39)		probably null	Het
Vmn2r87	T	A	10: 130,333,095 (GRCm39)	T52S	probably benign	Het
Vrk2	C	A	11: 26,421,457 (GRCm39)	L500F	probably damaging	Het
Zan	T	A	5: 137,435,064 (GRCm39)	I2110F	unknown	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
IGL00768:Gucy1a2	APN	9	3,635,111 (GRCm39)	missense	possibly damaging	0.65
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
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

Predicted Primers

PCR Primer
(F):5'- TGGGAAACAGGCCACTCTAG -3'
(R):5'- CAGTGCTCTGTGAGTGTCATATC -3'

Sequencing Primer
(F):5'- GGCCACTCTAGAGTCATCATC -3'
(R):5'- CTGAAGGACCACCATGTTAGAGTC -3'

Posted On

2019-12-20