Mutagenetix > Incidental Mutations

Incidental Mutation 'R1804:Gucy2g'

203426

Institutional Source

Beutler Lab

Gene Symbol

Gucy2g

Ensembl Gene

ENSMUSG00000055523

Gene Name

guanylate cyclase 2g

Synonyms

GC-G, 2410077I05Rik

MMRRC Submission

039834-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55198297-55241236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55210309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 801 (I801F)

Ref Sequence

ENSEMBL: ENSMUSP00000068253 (fasta)

Gene Model

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

AlphaFold

Q6TL19

Predicted Effect

probably benign
Transcript: ENSMUST00000069183
AA Change: I801F

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: I801F

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: 97.4%
3x: 96.7%
10x: 94.5%
20x: 89.8%

Validation Efficiency

96% (77/80)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 184,033,203	Y220H	probably benign	Het
2610507B11Rik	A	G	11: 78,273,469	H1165R	probably damaging	Het
4930579C12Rik	T	C	9: 89,152,060		noncoding transcript	Het
Abcc8	T	C	7: 46,120,479	S871G	probably benign	Het
Acly	T	C	11: 100,515,905	Y288C	probably damaging	Het
Adgrb1	T	A	15: 74,529,540	D128E	probably damaging	Het
AF529169	T	A	9: 89,603,099	M82L	possibly damaging	Het
Alms1	C	T	6: 85,621,275	Q1497*	probably null	Het
Cacna1c	G	A	6: 118,687,046	T688M	probably damaging	Het
Ccdc7a	A	T	8: 128,988,766	L279*	probably null	Het
Cep135	A	G	5: 76,636,932	E958G	probably benign	Het
Clec4n	G	T	6: 123,230,022	V2L	possibly damaging	Het
Col28a1	C	T	6: 8,164,612		probably null	Het
Dcaf5	A	G	12: 80,339,829	S508P	probably benign	Het
Dlgap2	C	A	8: 14,727,809	N351K	possibly damaging	Het
Dnah8	T	A	17: 30,708,407	Y1346N	probably benign	Het
Dqx1	T	C	6: 83,060,322	V322A	probably damaging	Het
Ebf3	A	C	7: 137,200,521	L412V	possibly damaging	Het
Epha5	T	C	5: 84,331,815	N110S	probably benign	Het
Fcgbp	T	C	7: 28,086,139	C334R	probably benign	Het
Glp1r	T	A	17: 30,930,713		probably null	Het
Gm4952	G	T	19: 12,618,420	R58L	probably damaging	Het
Gm7579	G	A	7: 142,211,938	C27Y	unknown	Het
Golm1	T	A	13: 59,642,389		probably null	Het
H2-D1	T	C	17: 35,263,552	Y83H	probably damaging	Het
Homez	A	T	14: 54,857,141	I19N	probably damaging	Het
Hoxa5	T	C	6: 52,202,648	K249R	probably damaging	Het
Hsd17b4	A	T	18: 50,177,984	N550Y	probably damaging	Het
Ipo4	A	T	14: 55,629,456	N668K	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Klb	A	G	5: 65,379,853	D842G	probably damaging	Het
Mmp21	G	T	7: 133,678,882	P120T	probably benign	Het
Mroh7	T	A	4: 106,694,392	I918F	possibly damaging	Het
Muc5b	A	G	7: 141,863,780	T3488A	possibly damaging	Het
Npc1	C	T	18: 12,223,088	C42Y	probably damaging	Het
Ogdh	A	G	11: 6,338,565	Y214C	probably damaging	Het
Olfr1042	G	T	2: 86,160,073	T99N	probably benign	Het
Olfr1277	T	C	2: 111,269,930	M146V	probably benign	Het
Olfr450	G	A	6: 42,818,221	C250Y	possibly damaging	Het
Olfr726	A	T	14: 50,083,902	W260R	probably damaging	Het
Olfr930	A	G	9: 38,930,650	T160A	possibly damaging	Het
Phtf1	A	G	3: 103,987,567		probably benign	Het
Plb1	A	G	5: 32,353,697	N1302S	possibly damaging	Het
Prex2	A	G	1: 11,132,342	K492E	probably damaging	Het
Prkaa1	A	G	15: 5,178,778	D509G	probably benign	Het
Rims2	C	T	15: 39,437,043	Q57*	probably null	Het
Rnf40	T	C	7: 127,595,948	V411A	possibly damaging	Het
Rraga	A	G	4: 86,576,444	I176V	probably damaging	Het
Rrm2	T	C	12: 24,708,612	I51T	probably benign	Het
Serpina3a	T	A	12: 104,118,416		probably benign	Het
Skint7	T	C	4: 111,982,012	W168R	probably damaging	Het
Slc27a4	A	G	2: 29,811,267	M357V	probably benign	Het
Slc4a3	A	G	1: 75,551,717	H452R	probably damaging	Het
Smc1b	A	T	15: 85,127,790	I127K	possibly damaging	Het
Snap91	T	A	9: 86,783,417	M383L	probably benign	Het
Taf6l	A	T	19: 8,773,634	L52Q	probably damaging	Het
Tas1r3	G	A	4: 155,860,470	R765C	probably damaging	Het
Tas2r124	A	G	6: 132,755,525	I266V	probably benign	Het
Tesk2	T	C	4: 116,800,621		probably benign	Het
Tmem131l	T	G	3: 83,910,479	Q1237P	possibly damaging	Het
Tmem67	A	G	4: 12,045,789		probably null	Het
Tnfaip8	T	A	18: 50,090,661	C179S	probably damaging	Het
Ush2a	G	A	1: 188,633,729		probably null	Het
Vps13b	A	T	15: 35,917,137	E3709V	probably damaging	Het
Wdr7	A	T	18: 63,865,440	S1153C	probably damaging	Het
Zc2hc1b	A	C	10: 13,171,268		probably benign	Het
Zfp438	A	G	18: 5,213,689	I423T	probably damaging	Het
Zfp592	C	A	7: 81,023,695	P136T	probably damaging	Het
Zfp783	T	A	6: 47,945,885		noncoding transcript	Het
Zfp804b	A	T	5: 6,771,756	S400T	possibly 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
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
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
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
Z1177:Gucy2g	UTSW	19	55210377	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGTGCACATGATCTGGTAATTAGG -3'
(R):5'- TTAAGCTGGAGGATGCCGTC -3'

Sequencing Primer
(F):5'- GCACATGATCTGGTAATTAGGTCTAG -3'
(R):5'- GGATGCCGTCACTATTTAGACAG -3'

Posted On

2014-06-23