Mutagenetix > Incidental Mutation

Incidental Mutation 'R2842:Gucy2g'

254363

Institutional Source

Beutler Lab

Gene Symbol

Gucy2g

Ensembl Gene

ENSMUSG00000055523

Gene Name

guanylate cyclase 2g

Synonyms

2410077I05Rik, GC-G

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55186531-55229668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55229379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 97 (C97Y)

Ref Sequence

ENSEMBL: ENSMUSP00000068253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069183]

AlphaFold

Q6TL19

Predicted Effect

probably damaging
Transcript: ENSMUST00000069183
AA Change: C97Y

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

SMART Domains

Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: C97Y

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
Pfam:ANF_receptor	65	416	5.2e-36	PFAM
low complexity region	471	487	N/A	INTRINSIC
Pfam:Pkinase	574	826	2e-26	PFAM
Pfam:Pkinase_Tyr	577	826	6e-35	PFAM
CYCc	865	1059	6.42e-96	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities and are protected against acute ischemia induced renal injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aplp2	C	T	9: 31,069,122 (GRCm39)	R569Q	probably benign	Het
Arl8a	T	C	1: 135,082,989 (GRCm39)	S181P	probably damaging	Het
Armc8	A	G	9: 99,387,734 (GRCm39)	S396P	probably benign	Het
Baz2b	A	G	2: 59,743,348 (GRCm39)	V1541A	probably benign	Het
Crebbp	G	A	16: 3,927,062 (GRCm39)	R628C	probably damaging	Het
Ep400	T	A	5: 110,846,681 (GRCm39)	K295*	probably null	Het
Frem3	T	A	8: 81,395,978 (GRCm39)		probably null	Het
Gon4l	T	C	3: 88,802,794 (GRCm39)	V1135A	probably damaging	Het
Gprc5b	G	A	7: 118,583,302 (GRCm39)	T189M	possibly damaging	Het
Heatr5a	T	A	12: 52,002,261 (GRCm39)	K225M	probably null	Het
Heatr5a	C	T	12: 52,002,260 (GRCm39)		probably null	Het
Insr	A	G	8: 3,252,986 (GRCm39)	I391T	probably damaging	Het
Lce1e	T	A	3: 92,615,056 (GRCm39)	H97L	unknown	Het
Macf1	A	G	4: 123,270,210 (GRCm39)	V6647A	probably damaging	Het
Mast1	T	C	8: 85,650,537 (GRCm39)	R399G	probably damaging	Het
Mast4	C	A	13: 102,872,939 (GRCm39)	S1951I	probably benign	Het
Mdc1	C	T	17: 36,159,686 (GRCm39)	P648S	probably benign	Het
Mgam	T	C	6: 40,638,279 (GRCm39)	F410L	probably benign	Het
Nr2e1	T	C	10: 42,444,441 (GRCm39)	R223G	probably damaging	Het
Otud7b	G	A	3: 96,043,905 (GRCm39)	E19K	probably damaging	Het
Plce1	T	C	19: 38,512,727 (GRCm39)	S9P	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Plxna4	A	G	6: 32,192,566 (GRCm39)		probably null	Het
Prkag3	T	C	1: 74,780,334 (GRCm39)	I444V	probably benign	Het
Rsph10b	T	G	5: 143,916,710 (GRCm39)	V310G	possibly damaging	Het
Tmem225	T	C	9: 40,061,097 (GRCm39)	Y135H	probably damaging	Het
Tox2	G	A	2: 163,046,550 (GRCm39)		probably benign	Het
Ttc3	C	T	16: 94,232,857 (GRCm39)	P1003L	probably damaging	Het
Wfikkn2	G	A	11: 94,129,085 (GRCm39)	T352I	probably benign	Het

Other mutations in Gucy2g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Gucy2g	APN	19	55,221,535 (GRCm39)	missense	probably benign	0.01
IGL01954:Gucy2g	APN	19	55,187,123 (GRCm39)	missense	probably benign	0.01
IGL01969:Gucy2g	APN	19	55,215,870 (GRCm39)	missense	probably benign	0.00
IGL02164:Gucy2g	APN	19	55,226,455 (GRCm39)	missense	probably benign
IGL02534:Gucy2g	APN	19	55,229,500 (GRCm39)	missense	probably damaging	1.00
IGL02667:Gucy2g	APN	19	55,194,609 (GRCm39)	missense	possibly damaging	0.64
IGL02755:Gucy2g	APN	19	55,198,786 (GRCm39)	missense	probably benign	0.10
IGL03187:Gucy2g	APN	19	55,219,484 (GRCm39)	missense	possibly damaging	0.91
IGL03354:Gucy2g	APN	19	55,221,512 (GRCm39)	missense	possibly damaging	0.95
PIT4366001:Gucy2g	UTSW	19	55,226,214 (GRCm39)	missense	probably null	0.51
R0040:Gucy2g	UTSW	19	55,205,734 (GRCm39)	missense	possibly damaging	0.73
R0126:Gucy2g	UTSW	19	55,229,598 (GRCm39)	missense	probably benign
R0318:Gucy2g	UTSW	19	55,226,230 (GRCm39)	missense	probably benign	0.00
R0576:Gucy2g	UTSW	19	55,187,202 (GRCm39)	missense	probably damaging	1.00
R0604:Gucy2g	UTSW	19	55,191,519 (GRCm39)	missense	probably benign	0.00
R0962:Gucy2g	UTSW	19	55,198,716 (GRCm39)	nonsense	probably null
R1348:Gucy2g	UTSW	19	55,211,338 (GRCm39)	missense	possibly damaging	0.68
R1458:Gucy2g	UTSW	19	55,203,468 (GRCm39)	splice site	probably benign
R1693:Gucy2g	UTSW	19	55,211,358 (GRCm39)	missense	probably damaging	1.00
R1795:Gucy2g	UTSW	19	55,187,973 (GRCm39)	missense	probably damaging	1.00
R1804:Gucy2g	UTSW	19	55,198,741 (GRCm39)	missense	probably benign	0.34
R1830:Gucy2g	UTSW	19	55,211,362 (GRCm39)	missense	possibly damaging	0.94
R1902:Gucy2g	UTSW	19	55,198,669 (GRCm39)	missense	probably benign	0.20
R1927:Gucy2g	UTSW	19	55,226,191 (GRCm39)	missense	probably benign	0.02
R1969:Gucy2g	UTSW	19	55,221,485 (GRCm39)	missense	probably benign	0.42
R1969:Gucy2g	UTSW	19	55,211,328 (GRCm39)	missense	possibly damaging	0.90
R2071:Gucy2g	UTSW	19	55,210,772 (GRCm39)	missense	possibly damaging	0.72
R2971:Gucy2g	UTSW	19	55,198,708 (GRCm39)	missense	probably damaging	1.00
R4202:Gucy2g	UTSW	19	55,218,201 (GRCm39)	missense	possibly damaging	0.96
R4405:Gucy2g	UTSW	19	55,226,269 (GRCm39)	missense	probably benign	0.08
R4407:Gucy2g	UTSW	19	55,226,269 (GRCm39)	missense	probably benign	0.08
R4614:Gucy2g	UTSW	19	55,190,579 (GRCm39)	nonsense	probably null
R4671:Gucy2g	UTSW	19	55,226,500 (GRCm39)	missense	probably damaging	1.00
R4684:Gucy2g	UTSW	19	55,194,688 (GRCm39)	missense	probably damaging	1.00
R4837:Gucy2g	UTSW	19	55,214,485 (GRCm39)	missense	probably benign
R4969:Gucy2g	UTSW	19	55,214,445 (GRCm39)	missense	probably benign
R5050:Gucy2g	UTSW	19	55,229,367 (GRCm39)	missense	probably benign	0.05
R5059:Gucy2g	UTSW	19	55,214,503 (GRCm39)	missense	probably benign	0.00
R5070:Gucy2g	UTSW	19	55,218,219 (GRCm39)	missense	probably damaging	0.98
R5288:Gucy2g	UTSW	19	55,203,548 (GRCm39)	missense	probably damaging	1.00
R5384:Gucy2g	UTSW	19	55,203,548 (GRCm39)	missense	probably damaging	1.00
R5386:Gucy2g	UTSW	19	55,203,548 (GRCm39)	missense	probably damaging	1.00
R5497:Gucy2g	UTSW	19	55,187,133 (GRCm39)	missense	probably benign	0.00
R5531:Gucy2g	UTSW	19	55,229,572 (GRCm39)	missense	probably benign	0.24
R5536:Gucy2g	UTSW	19	55,226,359 (GRCm39)	missense	probably benign	0.05
R5679:Gucy2g	UTSW	19	55,219,511 (GRCm39)	missense	possibly damaging	0.87
R5715:Gucy2g	UTSW	19	55,221,587 (GRCm39)	missense	possibly damaging	0.93
R5941:Gucy2g	UTSW	19	55,203,563 (GRCm39)	missense	probably damaging	1.00
R6250:Gucy2g	UTSW	19	55,205,856 (GRCm39)	missense	probably damaging	0.99
R6288:Gucy2g	UTSW	19	55,215,945 (GRCm39)	missense	probably benign	0.01
R6378:Gucy2g	UTSW	19	55,229,377 (GRCm39)	missense	probably benign	0.00
R6605:Gucy2g	UTSW	19	55,229,460 (GRCm39)	missense	probably damaging	1.00
R7020:Gucy2g	UTSW	19	55,221,482 (GRCm39)	missense	probably damaging	0.98
R7064:Gucy2g	UTSW	19	55,198,764 (GRCm39)	missense	probably benign	0.01
R7078:Gucy2g	UTSW	19	55,229,583 (GRCm39)	missense	probably damaging	1.00
R7402:Gucy2g	UTSW	19	55,194,725 (GRCm39)	missense	probably damaging	1.00
R7539:Gucy2g	UTSW	19	55,191,586 (GRCm39)	missense	probably damaging	0.99
R7561:Gucy2g	UTSW	19	55,194,772 (GRCm39)	missense	probably benign	0.38
R7583:Gucy2g	UTSW	19	55,224,047 (GRCm39)	missense	probably damaging	1.00
R7804:Gucy2g	UTSW	19	55,216,584 (GRCm39)	missense	probably benign	0.02
R7880:Gucy2g	UTSW	19	55,194,712 (GRCm39)	missense	probably damaging	1.00
R8442:Gucy2g	UTSW	19	55,205,833 (GRCm39)	missense	probably benign	0.00
R8559:Gucy2g	UTSW	19	55,198,786 (GRCm39)	missense	probably benign	0.10
R8970:Gucy2g	UTSW	19	55,191,478 (GRCm39)	missense	possibly damaging	0.56
R8972:Gucy2g	UTSW	19	55,226,406 (GRCm39)	missense	probably benign	0.17
R9085:Gucy2g	UTSW	19	55,221,597 (GRCm39)	nonsense	probably null
R9390:Gucy2g	UTSW	19	55,190,607 (GRCm39)	missense	probably null	1.00
R9462:Gucy2g	UTSW	19	55,221,469 (GRCm39)	critical splice donor site	probably null
R9502:Gucy2g	UTSW	19	55,198,816 (GRCm39)	missense	probably damaging	1.00
R9610:Gucy2g	UTSW	19	55,194,605 (GRCm39)	missense	probably damaging	1.00
R9611:Gucy2g	UTSW	19	55,194,605 (GRCm39)	missense	probably damaging	1.00
R9644:Gucy2g	UTSW	19	55,219,537 (GRCm39)	missense	probably benign	0.05
Z1177:Gucy2g	UTSW	19	55,198,809 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTCCTTATATAATGCAGTGCCATCTAC -3'
(R):5'- GACTTGTCTCGAAGCTGCTAAG -3'

Sequencing Primer
(F):5'- GAAGAGATGAATGGAATGTGTGTC -3'
(R):5'- TGCTAAGCTCACCGTGGG -3'

Posted On

2014-12-04