Mutagenetix > Incidental Mutation

Incidental Mutation 'R5679:Gucy2g'

442954

Institutional Source

Beutler Lab

Gene Symbol

Gucy2g

Ensembl Gene

ENSMUSG00000055523

Gene Name

guanylate cyclase 2g

Synonyms

GC-G, 2410077I05Rik

MMRRC Submission

043176-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5679 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55198297-55241236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55231079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 370 (K370N)

Ref Sequence

ENSEMBL: ENSMUSP00000068253 (fasta)

Gene Model

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

AlphaFold

Q6TL19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069183
AA Change: K370N

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: K370N

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	G	A	11: 61,217,168	R346Q	probably benign	Het
Bcat1	A	T	6: 145,007,748	F304L	probably damaging	Het
Ccdc178	T	G	18: 22,067,429	K439N	probably benign	Het
Cdkn2a	T	C	4: 89,276,861	D84G	possibly damaging	Het
Chst8	T	A	7: 34,675,304	H370L	probably damaging	Het
Dimt1	A	G	13: 106,947,600	T32A	possibly damaging	Het
Dph6	T	C	2: 114,567,941	I162V	probably benign	Het
E230025N22Rik	C	T	18: 36,685,382	G465R	possibly damaging	Het
Fbxw7	T	A	3: 84,977,487	N612K	probably damaging	Het
Gpr179	A	G	11: 97,336,745	V1528A	probably benign	Het
Ipo13	A	T	4: 117,894,832	W903R	probably damaging	Het
Itgax	T	A	7: 128,134,990	H311Q	probably benign	Het
Kmt2d	T	C	15: 98,854,272		probably benign	Het
Lox	T	C	18: 52,528,917	N138S	probably benign	Het
Mre11a	T	A	9: 14,786,919	I21N	probably damaging	Het
Ncan	T	G	8: 70,112,626	Y217S	probably damaging	Het
Nfil3	A	G	13: 52,968,491	F126L	possibly damaging	Het
Nfu1	T	C	6: 87,019,397	V110A	probably damaging	Het
Oit1	T	C	14: 8,349,305	E215G	probably damaging	Het
Olfr1009	A	T	2: 85,722,046	I214F	probably damaging	Het
Olfr1120	T	C	2: 87,357,545	F34L	possibly damaging	Het
Olfr513	A	G	7: 108,754,996	I47V	probably damaging	Het
Palld	T	C	8: 61,684,945	Q592R	possibly damaging	Het
Pcdhac1	T	A	18: 37,092,477	L781Q	probably damaging	Het
Rcl1	A	G	19: 29,121,258		probably null	Het
Saxo1	C	T	4: 86,445,035	V404I	possibly damaging	Het
Scrt1	T	A	15: 76,519,062	T243S	unknown	Het
Slc22a30	G	T	19: 8,335,771	T550K	possibly damaging	Het
Strc	A	G	2: 121,368,100	S1437P	probably benign	Het
Tecpr1	T	A	5: 144,207,423	I654F	possibly damaging	Het
Tfcp2l1	A	G	1: 118,668,647	M371V	probably benign	Het
Vmn2r11	T	C	5: 109,054,842	N123S	probably benign	Het
Wdr81	T	C	11: 75,452,923	D506G	probably damaging	Het
Xylt1	A	G	7: 117,643,650	D640G	probably damaging	Het
Zfp148	T	G	16: 33,495,786	M276R	probably damaging	Het
Zfp329	G	A	7: 12,810,031	T522I	probably damaging	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
R5531:Gucy2g	UTSW	19	55241140	missense	probably benign	0.24
R5536:Gucy2g	UTSW	19	55237927	missense	probably benign	0.05
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
R8442:Gucy2g	UTSW	19	55217401	missense	probably benign	0.00
R8559:Gucy2g	UTSW	19	55210354	missense	probably benign	0.10
R8970:Gucy2g	UTSW	19	55203046	missense	possibly damaging	0.56
R8972:Gucy2g	UTSW	19	55237974	missense	probably benign	0.17
R9085:Gucy2g	UTSW	19	55233165	nonsense	probably null
R9390:Gucy2g	UTSW	19	55202175	missense	probably null	1.00
R9462:Gucy2g	UTSW	19	55233037	critical splice donor site	probably null
R9502:Gucy2g	UTSW	19	55210384	missense	probably damaging	1.00
R9610:Gucy2g	UTSW	19	55206173	missense	probably damaging	1.00
R9611:Gucy2g	UTSW	19	55206173	missense	probably damaging	1.00
R9644:Gucy2g	UTSW	19	55231105	missense	probably benign	0.05
Z1177:Gucy2g	UTSW	19	55210377	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGAAGCTCTAAGCCCATATGC -3'
(R):5'- AGGTTTGCTATCATCCGGTG -3'

Sequencing Primer
(F):5'- TGCCCTATGGAAAACTGGAATTGTG -3'
(R):5'- ACACACACACTGGCGTGG -3'

Posted On

2016-11-09