Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00756:Gucy1b2'

11186

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gucy1b2

Ensembl Gene

ENSMUSG00000021933

Gene Name

guanylate cyclase 1, soluble, beta 2

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

IGL00756

Quality Score

Status

Chromosome

Chromosomal Location

62630125-62693738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62640658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 749 (H749R)

Ref Sequence

ENSEMBL: ENSMUSP00000128114 (fasta)

Gene Model

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

AlphaFold

Q8BXH3

Predicted Effect

probably benign
Transcript: ENSMUST00000022501
AA Change: H764R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: H764R

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

probably benign
Transcript: ENSMUST00000165651
AA Change: H749R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933
AA Change: H749R

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

Coding Region Coverage

Validation Efficiency

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	T	2: 48,763,064 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 36,962,367 (GRCm39)	H489Q	probably damaging	Het
Col19a1	T	A	1: 24,362,023 (GRCm39)	K583N	possibly damaging	Het
Cplane1	A	G	15: 8,293,931 (GRCm39)		probably benign	Het
Crot	C	A	5: 9,026,072 (GRCm39)	R305L	probably damaging	Het
Ctnnal1	A	T	4: 56,829,544 (GRCm39)	N428K	possibly damaging	Het
Dab1	A	G	4: 104,585,075 (GRCm39)	K405R	probably benign	Het
Dnah6	A	C	6: 73,100,754 (GRCm39)	F2016L	possibly damaging	Het
Fgfrl1	A	G	5: 108,853,819 (GRCm39)	K309E	possibly damaging	Het
Mki67	A	T	7: 135,300,460 (GRCm39)	S1525T	possibly damaging	Het
Mob1a	T	A	6: 83,309,468 (GRCm39)	Y72N	probably damaging	Het
Ntrk1	C	T	3: 87,691,004 (GRCm39)	E387K	probably benign	Het
Qser1	A	G	2: 104,618,016 (GRCm39)	M932T	possibly damaging	Het
Rarb	C	A	14: 16,443,791 (GRCm38)	E166*	probably null	Het
Thnsl1	T	A	2: 21,217,423 (GRCm39)	H392Q	probably benign	Het
Tmem171	T	A	13: 98,822,934 (GRCm39)	R288S	probably benign	Het
Zc4h2	T	A	X: 94,685,807 (GRCm39)	R186*	probably null	Het

Other mutations in Gucy1b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Gucy1b2	APN	14	62,643,694 (GRCm39)	missense	probably damaging	1.00
IGL00465:Gucy1b2	APN	14	62,640,649 (GRCm39)	missense	probably benign
IGL01800:Gucy1b2	APN	14	62,649,104 (GRCm39)	missense	probably benign	0.03
IGL01875:Gucy1b2	APN	14	62,657,595 (GRCm39)	missense	probably damaging	1.00
IGL03033:Gucy1b2	APN	14	62,653,393 (GRCm39)	missense	probably benign	0.00
IGL03110:Gucy1b2	APN	14	62,671,283 (GRCm39)	splice site	probably benign
IGL02796:Gucy1b2	UTSW	14	62,645,143 (GRCm39)	missense	probably benign	0.42
R0183:Gucy1b2	UTSW	14	62,656,589 (GRCm39)	missense	probably damaging	1.00
R0605:Gucy1b2	UTSW	14	62,640,608 (GRCm39)	splice site	probably benign
R0815:Gucy1b2	UTSW	14	62,656,511 (GRCm39)	missense	probably benign	0.00
R0863:Gucy1b2	UTSW	14	62,656,511 (GRCm39)	missense	probably benign	0.00
R0972:Gucy1b2	UTSW	14	62,651,818 (GRCm39)	missense	possibly damaging	0.61
R0972:Gucy1b2	UTSW	14	62,646,127 (GRCm39)	missense	possibly damaging	0.88
R1438:Gucy1b2	UTSW	14	62,651,770 (GRCm39)	missense	probably damaging	0.98
R2011:Gucy1b2	UTSW	14	62,646,207 (GRCm39)	missense	probably damaging	0.99
R2409:Gucy1b2	UTSW	14	62,643,628 (GRCm39)	frame shift	probably null
R3692:Gucy1b2	UTSW	14	62,642,076 (GRCm39)	missense	probably damaging	1.00
R4484:Gucy1b2	UTSW	14	62,649,038 (GRCm39)	missense	possibly damaging	0.88
R4715:Gucy1b2	UTSW	14	62,660,466 (GRCm39)	missense	possibly damaging	0.95
R4730:Gucy1b2	UTSW	14	62,645,208 (GRCm39)	missense	probably damaging	1.00
R4812:Gucy1b2	UTSW	14	62,653,346 (GRCm39)	splice site	probably null
R4839:Gucy1b2	UTSW	14	62,685,695 (GRCm39)	missense	probably damaging	1.00
R5261:Gucy1b2	UTSW	14	62,642,028 (GRCm39)	missense	probably damaging	1.00
R5326:Gucy1b2	UTSW	14	62,690,779 (GRCm39)	critical splice donor site	probably null
R5656:Gucy1b2	UTSW	14	62,660,430 (GRCm39)	missense	probably damaging	1.00
R5779:Gucy1b2	UTSW	14	62,651,750 (GRCm39)	missense	possibly damaging	0.82
R6000:Gucy1b2	UTSW	14	62,656,499 (GRCm39)	missense	probably benign	0.00
R6274:Gucy1b2	UTSW	14	62,653,388 (GRCm39)	missense	probably damaging	1.00
R7457:Gucy1b2	UTSW	14	62,630,401 (GRCm39)	missense	probably benign	0.08
R7487:Gucy1b2	UTSW	14	62,685,672 (GRCm39)	missense	probably damaging	0.97
R7607:Gucy1b2	UTSW	14	62,656,626 (GRCm39)	missense	probably damaging	1.00
R8030:Gucy1b2	UTSW	14	62,630,319 (GRCm39)	missense	probably benign
R8285:Gucy1b2	UTSW	14	62,657,556 (GRCm39)	missense	probably damaging	0.98
R8287:Gucy1b2	UTSW	14	62,649,265 (GRCm39)	missense	probably damaging	1.00
R8970:Gucy1b2	UTSW	14	62,656,664 (GRCm39)	missense	possibly damaging	0.95
RF030:Gucy1b2	UTSW	14	62,646,090 (GRCm39)	critical splice donor site	probably benign
RF035:Gucy1b2	UTSW	14	62,646,090 (GRCm39)	critical splice donor site	probably benign
Z1177:Gucy1b2	UTSW	14	62,690,902 (GRCm39)	missense	unknown

Posted On

2012-12-06