Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02796:Gucy1b2'

392038

Institutional Source

Beutler Lab

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 #

IGL02796 (G1)

Quality Score

111

Status

Validated

Chromosome

Chromosomal Location

62630125-62693738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62645143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 639 (P639S)

Ref Sequence

ENSEMBL: ENSMUSP00000022501 (fasta)

Gene Model

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

AlphaFold

Q8BXH3

Predicted Effect

probably benign
Transcript: ENSMUST00000022501
AA Change: P639S

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: P639S

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: P624S

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933
AA Change: P624S

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

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (50/51)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	A	T	19: 55,266,601 (GRCm39)	K86*	probably null	Het
Ambp	C	A	4: 63,072,169 (GRCm39)		probably benign	Het
Atp6v0d2	A	T	4: 19,887,324 (GRCm39)	M208K	probably damaging	Het
Brinp1	C	G	4: 68,680,427 (GRCm39)	R701P	probably damaging	Het
Btnl9	T	C	11: 49,060,008 (GRCm39)	D580G	probably damaging	Het
Cand1	A	T	10: 119,049,543 (GRCm39)	L401H	probably damaging	Het
Ccdc66	T	C	14: 27,208,523 (GRCm39)	E577G	possibly damaging	Het
Ccdc93	C	A	1: 121,418,895 (GRCm39)	D483E	probably damaging	Het
Cd38	T	C	5: 44,063,555 (GRCm39)	L216P	probably damaging	Het
Cdr1	C	T	X: 60,228,087 (GRCm39)	D360N	possibly damaging	Het
Cibar2	C	T	8: 120,904,138 (GRCm39)		probably benign	Het
Col9a3	G	T	2: 180,255,955 (GRCm39)	D443Y	probably damaging	Het
Cpt1b	C	T	15: 89,309,005 (GRCm39)	V66I	probably benign	Het
Cyp8b1	T	A	9: 121,744,564 (GRCm39)	Y256F	probably benign	Het
Dennd10	A	G	19: 60,806,081 (GRCm39)		probably benign	Het
Dync1i1	A	G	6: 5,757,385 (GRCm39)	N48S	probably benign	Het
Ehd3	T	A	17: 74,123,396 (GRCm39)	L133Q	probably damaging	Het
Eif6	C	A	2: 155,668,068 (GRCm39)	R57L	probably damaging	Het
Fcgbp	T	A	7: 27,800,576 (GRCm39)		probably benign	Het
Fgl1	C	T	8: 41,650,095 (GRCm39)	A229T	probably benign	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Gdf7	A	T	12: 8,351,666 (GRCm39)	S90T	unknown	Het
Ggta1	T	C	2: 35,303,329 (GRCm39)		probably benign	Het
Gm44859	C	T	19: 12,014,112 (GRCm39)		probably benign	Het
Grin2a	T	C	16: 9,402,972 (GRCm39)	E838G	possibly damaging	Het
Grin2c	A	G	11: 115,141,543 (GRCm39)		probably benign	Het
Grm1	T	C	10: 10,565,411 (GRCm39)	T966A	probably benign	Het
Gtpbp1	A	G	15: 79,601,186 (GRCm39)	I468M	possibly damaging	Het
Hat1	T	C	2: 71,250,700 (GRCm39)		probably null	Het
Hira	A	T	16: 18,744,404 (GRCm39)	I374F	probably benign	Het
Htt	C	A	5: 35,034,826 (GRCm39)	Q2024K	probably benign	Het
Kcnj6	A	G	16: 94,633,778 (GRCm39)	M111T	probably benign	Het
Loxhd1	T	A	18: 77,456,811 (GRCm39)		probably benign	Het
Lrif1	T	A	3: 106,642,752 (GRCm39)	M619K	probably benign	Het
Lrrc8b	G	A	5: 105,629,211 (GRCm39)	G519D	probably damaging	Het
Map3k7	A	G	4: 31,979,692 (GRCm39)		probably benign	Het
Or2ah1	T	C	2: 85,653,933 (GRCm39)	I206T	probably benign	Het
Or4d6	T	A	19: 12,086,248 (GRCm39)	I221F	possibly damaging	Het
P2ry12	T	C	3: 59,125,302 (GRCm39)	I124M	probably damaging	Het
Paxbp1	A	G	16: 90,822,182 (GRCm39)		probably benign	Het
Polb	A	T	8: 23,121,474 (GRCm39)	I257N	probably damaging	Het
Psg27	A	T	7: 18,295,875 (GRCm39)	V190E	probably benign	Het
Rabgap1	T	A	2: 37,362,318 (GRCm39)	N54K	probably damaging	Het
Sacm1l	T	A	9: 123,377,989 (GRCm39)	W90R	possibly damaging	Het
Snrpb2	A	T	2: 142,906,487 (GRCm39)	M1L	probably benign	Het
Spata31d1d	A	G	13: 59,876,057 (GRCm39)	Y493H	possibly damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Spocd1	A	G	4: 129,841,548 (GRCm39)		probably benign	Het
Tbc1d5	G	T	17: 51,273,652 (GRCm39)	H123Q	probably damaging	Het
Ttn	T	C	2: 76,608,445 (GRCm39)	N17826S	probably damaging	Het
Tubgcp6	A	G	15: 89,006,593 (GRCm39)	I143T	probably benign	Het
Usp48	A	G	4: 137,338,029 (GRCm39)	Y268C	probably damaging	Het
Zfhx4	G	A	3: 5,464,599 (GRCm39)	V1586M	probably damaging	Het
Zfp146	C	T	7: 29,861,983 (GRCm39)	V20I	probably benign	Het
Zfp263	G	A	16: 3,564,740 (GRCm39)	E252K	probably benign	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
IGL00756:Gucy1b2	APN	14	62,640,658 (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
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

Predicted Primers

PCR Primer
(F):5'- AAGAGCCAATAGCCTCCTCTG -3'
(R):5'- TCTAGGAAATGGCAGGCACATG -3'

Sequencing Primer
(F):5'- AATAGCCTCCTCTGGGGTCTG -3'
(R):5'- AATGGCAGGCACATGTAAGTGTTTG -3'

Posted On

2016-06-08