Mutagenetix > Incidental Mutation

Incidental Mutation 'R6274:Gucy1b2'

507545

Institutional Source

Beutler Lab

Gene Symbol

Gucy1b2

Ensembl Gene

ENSMUSG00000021933

Gene Name

guanylate cyclase 1, soluble, beta 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R6274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62392676-62456289 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62415939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 336 (C336S)

Ref Sequence

ENSEMBL: ENSMUSP00000128114 (fasta)

Gene Model

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

AlphaFold

Q8BXH3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022501
AA Change: C351S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: C351S

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: C336S

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

SMART Domains

Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933
AA Change: C336S

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (56/56)

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
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ano1	A	T	7: 144,618,863	S528T	probably benign	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Bcl2l10	T	C	9: 75,351,072	I172T	possibly damaging	Het
Bpifb3	A	T	2: 153,929,323	N385I	possibly damaging	Het
Bsnd	A	G	4: 106,486,635	V158A	probably damaging	Het
Cacna1s	A	G	1: 136,089,045	N481S	probably benign	Het
Cdk5rap1	A	G	2: 154,368,241	V138A	probably damaging	Het
Cep290	A	G	10: 100,530,207	E1099G	probably damaging	Het
Cers1	T	A	8: 70,331,077	L225Q	probably damaging	Het
Cfb	T	C	17: 34,862,093	Q7R	probably benign	Het
Clk4	A	G	11: 51,271,921	S98G	possibly damaging	Het
Clock	A	G	5: 76,237,153	S406P	probably benign	Het
Csmd3	T	C	15: 47,621,437	I3178V	probably benign	Het
Dock10	A	G	1: 80,538,823	S1397P	probably damaging	Het
Fer1l4	A	G	2: 156,029,268	L1421P	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Greb1	G	T	12: 16,735,151	T91K	probably damaging	Het
Grid2ip	G	A	5: 143,380,429	S379N	probably damaging	Het
Hdac1	A	G	4: 129,519,109	C261R	probably damaging	Het
Hrasls5	C	T	19: 7,637,466	T231I	probably damaging	Het
Htt	T	C	5: 34,852,087	S1471P	possibly damaging	Het
Ice1	A	G	13: 70,594,839	V2134A	probably damaging	Het
Ikzf1	C	T	11: 11,768,961	Q310*	probably null	Het
Il3ra	G	A	14: 14,350,180	V112I	probably benign	Het
Kif21b	A	G	1: 136,149,418	I393V	possibly damaging	Het
Krt74	T	C	15: 101,763,437		noncoding transcript	Het
Krtap29-1	T	C	11: 99,978,983	N24S	probably null	Het
Mut	T	C	17: 40,956,245	V570A	probably benign	Het
Myh7	T	C	14: 54,979,486	D1138G	probably damaging	Het
Nktr	T	C	9: 121,731,565	I125T	probably damaging	Het
Nlrp2	A	T	7: 5,317,555	L861Q	probably damaging	Het
Notch3	C	A	17: 32,147,290	R990L	probably benign	Het
Nrap	T	C	19: 56,361,721	D655G	probably benign	Het
Olfr1329	A	T	4: 118,917,230	V79E	probably benign	Het
Olfr1451	G	A	19: 12,999,870	V295I	probably damaging	Het
Osbpl11	T	A	16: 33,227,056	I463N	probably damaging	Het
Pcsk6	A	T	7: 66,033,844	R749W	probably damaging	Het
Plxnb1	T	C	9: 109,112,141		probably null	Het
Polr1a	T	A	6: 71,954,890		probably null	Het
Ppm1g	T	C	5: 31,206,406	I153V	probably damaging	Het
Ppp1r12a	T	C	10: 108,260,890	S191P	probably benign	Het
Prodh	T	C	16: 18,081,058	K178E	possibly damaging	Het
Rilpl2	A	G	5: 124,469,848	V103A	possibly damaging	Het
Sap18b	C	T	8: 95,825,541	H60Y	probably benign	Het
Sclt1	A	G	3: 41,629,516		probably null	Het
Serpinb1a	G	T	13: 32,842,866	H364Q	probably damaging	Het
Sez6l	G	A	5: 112,475,365	Q107*	probably null	Het
Sipa1l2	C	T	8: 125,469,872	V708I	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Uaca	T	A	9: 60,850,291		probably null	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Usp9y	C	T	Y: 1,316,735	R1938H	probably damaging	Homo
Wnk4	C	T	11: 101,265,431	R42W	probably damaging	Het
Zfp326	T	A	5: 105,905,980	L242Q	probably 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
R0183:Gucy1b2	UTSW	14	62419140	missense	probably damaging	1.00
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
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
R8030:Gucy1b2	UTSW	14	62392870	missense	probably benign
R8285:Gucy1b2	UTSW	14	62420107	missense	probably damaging	0.98
R8287:Gucy1b2	UTSW	14	62411816	missense	probably damaging	1.00
R8970:Gucy1b2	UTSW	14	62419215	missense	possibly damaging	0.95
RF030:Gucy1b2	UTSW	14	62408641	critical splice donor site	probably benign
RF035:Gucy1b2	UTSW	14	62408641	critical splice donor site	probably benign
Z1177:Gucy1b2	UTSW	14	62453453	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGATCATGAATTCCAGACGAGCC -3'
(R):5'- TGTGCTAAAGAGTGGGAATCAC -3'

Sequencing Primer
(F):5'- AGGAACGTCAGGAGACCCTC -3'
(R):5'- TGGGAATCACACTCAGCCTGTG -3'

Posted On

2018-03-15