Mutagenetix > Incidental Mutations

Incidental Mutation 'R0183:Gucy1b2'

23924

Institutional Source

Beutler Lab

Gene Symbol

Gucy1b2

Ensembl Gene

ENSMUSG00000021933

Gene Name

guanylate cyclase 1, soluble, beta 2

Synonyms

MMRRC Submission

038448-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

R0183 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

62392676-62456289 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62419140 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 256 (K256M)

Ref Sequence

ENSEMBL: ENSMUSP00000128114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022501] [ENSMUST00000128573] [ENSMUST00000165651]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022501
AA Change: K256M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: K256M

Domain	Start	End	E-Value	Type
Pfam:HNOB	83	244	6e-60	PFAM
Blast:CYCc	263	362	3e-24	BLAST
PDB:4GJ4\|D	350	471	4e-8	PDB
CYCc	513	712	1.11e-108	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128573

SMART Domains

Protein: ENSMUSP00000120329
Gene: ENSMUSG00000021933

Domain	Start	End	E-Value	Type
Pfam:HNOB	1	167	1.5e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165651
AA Change: K256M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933
AA Change: K256M

Domain	Start	End	E-Value	Type
Pfam:HNOB	82	250	1.1e-53	PFAM
Blast:CYCc	263	347	6e-25	BLAST
PDB:4GJ4\|D	335	456	5e-8	PDB
CYCc	498	697	1.11e-108	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

84% (42/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal hyperventilation response to a 10% oxygen environment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 76,886,235	D490N	probably benign	Het
Aatf	A	T	11: 84,510,425		probably null	Het
Amer3	T	A	1: 34,587,757	I359K	probably damaging	Het
Appl1	A	T	14: 26,962,854	D79E	probably damaging	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Baz1a	T	A	12: 54,911,387	E1026D	probably damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Card14	C	T	11: 119,326,698	R386C	probably damaging	Het
Cenpb	T	C	2: 131,178,453		probably benign	Het
Clcn4	G	A	7: 7,295,091	Q40*	probably null	Het
Clec16a	T	C	16: 10,560,022	Y28H	probably damaging	Het
Cul4a	T	C	8: 13,133,790	S393P	probably damaging	Het
Dcbld2	A	G	16: 58,445,359	D194G	possibly damaging	Het
Dnah6	C	T	6: 73,082,923	V2841I	probably damaging	Het
Eaf1	T	A	14: 31,495,315	L16Q	probably damaging	Het
Eef1e1	C	T	13: 38,656,186	A48T	probably damaging	Het
Exoc3l	C	A	8: 105,295,300	R57L	probably damaging	Het
Faf1	A	G	4: 109,935,610	N593S	probably benign	Het
Fosb	A	G	7: 19,307,385	I61T	probably damaging	Het
Fstl5	A	C	3: 76,322,272	I127L	possibly damaging	Het
Gas2l2	T	A	11: 83,429,056	M125L	probably benign	Het
Gcnt1	C	T	19: 17,329,117	D415N	probably benign	Het
Gtpbp4	A	G	13: 8,974,961	M531T	probably benign	Het
Igf2bp2	A	T	16: 22,078,730	Y244*	probably null	Het
Jkamp	T	C	12: 72,094,035	I118T	possibly damaging	Het
Kalrn	A	T	16: 34,171,379		probably null	Het
Kcnma1	A	T	14: 23,508,052	D317E	probably damaging	Het
Lipo2	A	T	19: 33,749,551		probably null	Het
Lrig3	T	A	10: 126,010,192	I830K	probably damaging	Het
Map3k4	A	G	17: 12,235,128	I1429T	probably damaging	Het
Mkks	G	A	2: 136,880,686	L184F	probably benign	Het
Mmp19	C	T	10: 128,799,003	T424I	possibly damaging	Het
Mrps23	A	G	11: 88,210,154	E57G	probably damaging	Het
Myh7	T	C	14: 54,978,876	T1282A	probably benign	Het
Olfr1046	T	A	2: 86,216,829	S294C	probably damaging	Het
Olfr1380	A	G	11: 49,564,848	D309G	probably benign	Het
Phf19	T	C	2: 34,911,202	N75S	probably damaging	Het
Pink1	T	G	4: 138,314,179	H477P	probably damaging	Het
Ppp6r2	G	A	15: 89,285,787	C835Y	probably damaging	Het
Prkcq	T	C	2: 11,253,162	I295T	probably damaging	Het
Ptpn13	T	C	5: 103,516,408	S421P	probably benign	Het
Ptpn6	A	G	6: 124,728,951	S77P	probably damaging	Het
Ptpre	G	T	7: 135,669,845	M389I	probably benign	Het
Ranbp9	T	C	13: 43,425,123	D158G	probably damaging	Het
Sec14l3	C	T	11: 4,075,547	S357L	probably benign	Het
Slc1a6	A	G	10: 78,791,233	T135A	probably damaging	Het
Spef2	A	T	15: 9,716,359	D323E	possibly damaging	Het
Taf2	T	A	15: 55,055,790	K396N	possibly damaging	Het
Tcf12	A	T	9: 71,917,027	V94E	probably damaging	Het
Trim24	T	A	6: 37,943,480	I404N	possibly damaging	Het

Other mutations in Gucy1b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Gucy1b2	APN	14	62406245	missense	probably damaging	1.00
IGL00465:Gucy1b2	APN	14	62403200	missense	probably benign
IGL00756:Gucy1b2	APN	14	62403209	missense	probably benign
IGL01800:Gucy1b2	APN	14	62411655	missense	probably benign	0.03
IGL01875:Gucy1b2	APN	14	62420146	missense	probably damaging	1.00
IGL03033:Gucy1b2	APN	14	62415944	missense	probably benign	0.00
IGL03110:Gucy1b2	APN	14	62433834	splice site	probably benign
IGL02796:Gucy1b2	UTSW	14	62407694	missense	probably benign	0.42
R0605:Gucy1b2	UTSW	14	62403159	splice site	probably benign
R0815:Gucy1b2	UTSW	14	62419062	missense	probably benign	0.00
R0863:Gucy1b2	UTSW	14	62419062	missense	probably benign	0.00
R0972:Gucy1b2	UTSW	14	62408678	missense	possibly damaging	0.88
R0972:Gucy1b2	UTSW	14	62414369	missense	possibly damaging	0.61
R1438:Gucy1b2	UTSW	14	62414321	missense	probably damaging	0.98
R2011:Gucy1b2	UTSW	14	62408758	missense	probably damaging	0.99
R2409:Gucy1b2	UTSW	14	62406179	frame shift	probably null
R3692:Gucy1b2	UTSW	14	62404627	missense	probably damaging	1.00
R4484:Gucy1b2	UTSW	14	62411589	missense	possibly damaging	0.88
R4715:Gucy1b2	UTSW	14	62423017	missense	possibly damaging	0.95
R4730:Gucy1b2	UTSW	14	62407759	missense	probably damaging	1.00
R4812:Gucy1b2	UTSW	14	62415897	splice site	probably null
R4839:Gucy1b2	UTSW	14	62448246	missense	probably damaging	1.00
R5261:Gucy1b2	UTSW	14	62404579	missense	probably damaging	1.00
R5326:Gucy1b2	UTSW	14	62453330	critical splice donor site	probably null
R5656:Gucy1b2	UTSW	14	62422981	missense	probably damaging	1.00
R5779:Gucy1b2	UTSW	14	62414301	missense	possibly damaging	0.82
R6000:Gucy1b2	UTSW	14	62419050	missense	probably benign	0.00
R6274:Gucy1b2	UTSW	14	62415939	missense	probably damaging	1.00
R7457:Gucy1b2	UTSW	14	62392952	missense	probably benign	0.08
R7487:Gucy1b2	UTSW	14	62448223	missense	probably damaging	0.97
R7607:Gucy1b2	UTSW	14	62419177	missense	probably damaging	1.00
RF030:Gucy1b2	UTSW	14	62408641	critical splice donor site	probably benign
RF035:Gucy1b2	UTSW	14	62408641	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGATTCTCAGCTAGAAGTGGGTTTCC -3'
(R):5'- TATCGTGAAGCAAGGCACGGAC -3'

Sequencing Primer
(F):5'- gcctgaatacatttttgattgcc -3'
(R):5'- CTTGGGTTTGGTAAACTGAAGAACAC -3'

Posted On

2013-04-16