Mutagenetix > Incidental Mutations

Incidental Mutation 'R5531:Gucy2g'

433724

Institutional Source

Beutler Lab

Gene Symbol

Gucy2g

Ensembl Gene

ENSMUSG00000055523

Gene Name

guanylate cyclase 2g

Synonyms

GC-G, 2410077I05Rik

MMRRC Submission

043089-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5531 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55198297-55241236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55241140 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 33 (S33P)

Ref Sequence

ENSEMBL: ENSMUSP00000068253 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069183
AA Change: S33P

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: S33P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.6%
3x: 97.5%
10x: 95.6%
20x: 92.2%

Validation Efficiency

97% (64/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	G	19: 29,753,672	S647P	possibly damaging	Het
Acacb	T	C	5: 114,204,706	F878L	possibly damaging	Het
Acr	T	A	15: 89,573,943	Y276N	probably damaging	Het
AI987944	A	T	7: 41,374,390	Y388*	probably null	Het
Ankrd29	G	A	18: 12,279,778	T114I	probably damaging	Het
Ap5z1	T	C	5: 142,467,781	M168T	probably benign	Het
Bard1	A	C	1: 71,046,721	C608W	probably damaging	Het
Clspn	A	G	4: 126,577,773	R907G	probably benign	Het
Cubn	C	T	2: 13,350,932	V1830I	probably benign	Het
Cwc22	T	C	2: 77,924,569	N221S	probably damaging	Het
Dact3	A	G	7: 16,875,615	E64G	possibly damaging	Het
Dhx40	T	C	11: 86,789,504	E381G	possibly damaging	Het
Dnah7a	A	G	1: 53,419,748	S3744P	possibly damaging	Het
Epha4	A	G	1: 77,374,876	V914A	probably benign	Het
Fbxw10	G	A	11: 62,862,656	C492Y	probably damaging	Het
G930045G22Rik	C	A	6: 50,847,776		noncoding transcript	Het
Gm21103	A	T	14: 6,303,861	I63K	probably damaging	Het
Gpr156	T	C	16: 38,005,257	V612A	probably benign	Het
Hibch	A	G	1: 52,845,069		probably benign	Het
Hmcn1	A	T	1: 150,743,788	C1192S	probably damaging	Het
Hsd11b1	CGG	CG	1: 193,240,249		probably null	Het
Ifi214	A	G	1: 173,525,120	Y248H	probably damaging	Het
Igf2bp2	T	G	16: 22,089,085	I89L	probably damaging	Het
Il2ra	A	T	2: 11,676,892	T103S	possibly damaging	Het
Ino80	T	A	2: 119,445,575	M407L	probably benign	Het
Jade1	A	C	3: 41,613,511	K671N	probably benign	Het
Lca5	C	T	9: 83,398,595	S384N	probably benign	Het
Lce1l	G	T	3: 92,850,497	P18H	unknown	Het
Lrrc8d	T	C	5: 105,797,670		probably benign	Het
Ly75	T	C	2: 60,365,145	N223S	probably damaging	Het
Mcm3	A	T	1: 20,803,544	F784Y	possibly damaging	Het
Ncf4	T	G	15: 78,260,788		probably benign	Het
Ncoa1	T	A	12: 4,253,746	M1362L	probably benign	Het
Olfr1	T	C	11: 73,395,177	T282A	probably benign	Het
Olfr467	A	G	7: 107,815,244	Y220C	probably benign	Het
Olfr765	G	C	10: 129,046,564	F166L	probably damaging	Het
Prkg2	T	C	5: 98,967,734	R543G	probably damaging	Het
Ptprd	A	C	4: 76,059,667		probably null	Het
Scap	A	G	9: 110,381,429	S969G	possibly damaging	Het
Sgk2	T	C	2: 162,994,704	F60S	probably benign	Het
Sgpp1	G	T	12: 75,735,207	Y119*	probably null	Het
Siglech	A	T	7: 55,768,665	K31*	probably null	Het
Slc40a1	A	G	1: 45,912,338	Y220H	probably damaging	Het
Smurf2	G	A	11: 106,852,563	T219M	possibly damaging	Het
Speer4f2	A	G	5: 17,376,528	K156R	possibly damaging	Het
Spp1	T	G	5: 104,440,558	D276E	probably benign	Het
Stk32b	T	C	5: 37,459,734		probably null	Het
Stxbp5	G	A	10: 9,762,924	Q1044*	probably null	Het
Sv2c	T	A	13: 95,961,378	T696S	probably damaging	Het
Tubgcp2	A	C	7: 140,005,024		probably null	Het
Ubap1l	C	T	9: 65,371,691	P91S	probably damaging	Het
Vmn2r76	A	T	7: 86,225,449	D773E	probably damaging	Het
Xirp2	C	G	2: 67,515,302	S2629C	probably benign	Het
Zbtb20	C	A	16: 43,610,867	C580*	probably null	Het
Zfp957	T	A	14: 79,213,182	Q392H	unknown	Het
Zfyve19	C	T	2: 119,211,946	T178M	probably damaging	Het
Zswim6	T	C	13: 107,769,593		noncoding transcript	Het

Other mutations in Gucy2g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Gucy2g	APN	19	55233103	missense	probably benign	0.01
IGL01954:Gucy2g	APN	19	55198691	missense	probably benign	0.01
IGL01969:Gucy2g	APN	19	55227438	missense	probably benign	0.00
IGL02164:Gucy2g	APN	19	55238023	missense	probably benign
IGL02534:Gucy2g	APN	19	55241068	missense	probably damaging	1.00
IGL02667:Gucy2g	APN	19	55206177	missense	possibly damaging	0.64
IGL02755:Gucy2g	APN	19	55210354	missense	probably benign	0.10
IGL03187:Gucy2g	APN	19	55231052	missense	possibly damaging	0.91
IGL03354:Gucy2g	APN	19	55233080	missense	possibly damaging	0.95
PIT4366001:Gucy2g	UTSW	19	55237782	missense	probably null	0.51
R0040:Gucy2g	UTSW	19	55217302	missense	possibly damaging	0.73
R0126:Gucy2g	UTSW	19	55241166	missense	probably benign
R0318:Gucy2g	UTSW	19	55237798	missense	probably benign	0.00
R0576:Gucy2g	UTSW	19	55198770	missense	probably damaging	1.00
R0604:Gucy2g	UTSW	19	55203087	missense	probably benign	0.00
R0962:Gucy2g	UTSW	19	55210284	nonsense	probably null
R1348:Gucy2g	UTSW	19	55222906	missense	possibly damaging	0.68
R1458:Gucy2g	UTSW	19	55215036	splice site	probably benign
R1693:Gucy2g	UTSW	19	55222926	missense	probably damaging	1.00
R1795:Gucy2g	UTSW	19	55199541	missense	probably damaging	1.00
R1804:Gucy2g	UTSW	19	55210309	missense	probably benign	0.34
R1830:Gucy2g	UTSW	19	55222930	missense	possibly damaging	0.94
R1902:Gucy2g	UTSW	19	55210237	missense	probably benign	0.20
R1927:Gucy2g	UTSW	19	55237759	missense	probably benign	0.02
R1969:Gucy2g	UTSW	19	55222896	missense	possibly damaging	0.90
R1969:Gucy2g	UTSW	19	55233053	missense	probably benign	0.42
R2071:Gucy2g	UTSW	19	55222340	missense	possibly damaging	0.72
R2842:Gucy2g	UTSW	19	55240947	missense	probably damaging	1.00
R2971:Gucy2g	UTSW	19	55210276	missense	probably damaging	1.00
R4202:Gucy2g	UTSW	19	55229769	missense	possibly damaging	0.96
R4405:Gucy2g	UTSW	19	55237837	missense	probably benign	0.08
R4407:Gucy2g	UTSW	19	55237837	missense	probably benign	0.08
R4614:Gucy2g	UTSW	19	55202147	nonsense	probably null
R4671:Gucy2g	UTSW	19	55238068	missense	probably damaging	1.00
R4684:Gucy2g	UTSW	19	55206256	missense	probably damaging	1.00
R4837:Gucy2g	UTSW	19	55226053	missense	probably benign
R4969:Gucy2g	UTSW	19	55226013	missense	probably benign
R5050:Gucy2g	UTSW	19	55240935	missense	probably benign	0.05
R5059:Gucy2g	UTSW	19	55226071	missense	probably benign	0.00
R5070:Gucy2g	UTSW	19	55229787	missense	probably damaging	0.98
R5288:Gucy2g	UTSW	19	55215116	missense	probably damaging	1.00
R5384:Gucy2g	UTSW	19	55215116	missense	probably damaging	1.00
R5386:Gucy2g	UTSW	19	55215116	missense	probably damaging	1.00
R5497:Gucy2g	UTSW	19	55198701	missense	probably benign	0.00
R5536:Gucy2g	UTSW	19	55237927	missense	probably benign	0.05
R5679:Gucy2g	UTSW	19	55231079	missense	possibly damaging	0.87
R5715:Gucy2g	UTSW	19	55233155	missense	possibly damaging	0.93
R5941:Gucy2g	UTSW	19	55215131	missense	probably damaging	1.00
R6250:Gucy2g	UTSW	19	55217424	missense	probably damaging	0.99
R6288:Gucy2g	UTSW	19	55227513	missense	probably benign	0.01
R6378:Gucy2g	UTSW	19	55240945	missense	probably benign	0.00
R6605:Gucy2g	UTSW	19	55241028	missense	probably damaging	1.00
R7020:Gucy2g	UTSW	19	55233050	missense	probably damaging	0.98
R7064:Gucy2g	UTSW	19	55210332	missense	probably benign	0.01
R7078:Gucy2g	UTSW	19	55241151	missense	probably damaging	1.00
R7402:Gucy2g	UTSW	19	55206293	missense	probably damaging	1.00
R7539:Gucy2g	UTSW	19	55203154	missense	probably damaging	0.99
R7561:Gucy2g	UTSW	19	55206340	missense	probably benign	0.38
R7583:Gucy2g	UTSW	19	55235615	missense	probably damaging	1.00
R7804:Gucy2g	UTSW	19	55228152	missense	probably benign	0.02
R7880:Gucy2g	UTSW	19	55206280	missense	probably damaging	1.00
R7963:Gucy2g	UTSW	19	55206280	missense	probably damaging	1.00
Z1177:Gucy2g	UTSW	19	55210377	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCACTGCATGTTGAATTG -3'
(R):5'- TGATCTCTGGGGACTCTTCAC -3'

Sequencing Primer
(F):5'- ATTGGTGTAAGTGAACTCCCAGCTC -3'
(R):5'- ACTCTCATATAAGTTCTGGGCACG -3'

Posted On

2016-10-06