Mutagenetix > Incidental Mutations

Incidental Mutation 'R6250:Gucy2g'

505946

Institutional Source

Beutler Lab

Gene Symbol

Gucy2g

Ensembl Gene

ENSMUSG00000055523

Gene Name

guanylate cyclase 2g

Synonyms

GC-G, 2410077I05Rik

MMRRC Submission

044367-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55198297-55241236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55217424 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 668 (L668Q)

Ref Sequence

ENSEMBL: ENSMUSP00000068253 (fasta)

Gene Model

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

AlphaFold

Q6TL19

Predicted Effect

probably damaging
Transcript: ENSMUST00000069183
AA Change: L668Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: L668Q

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	A	7: 28,150,714	G1195D	probably damaging	Het
Abhd12	T	C	2: 150,839,747	Y241C	probably damaging	Het
Ak9	T	C	10: 41,389,034	V929A	possibly damaging	Het
Ap3s1	T	C	18: 46,754,447	F49S	probably damaging	Het
Atp9b	T	C	18: 80,756,521	H801R	probably benign	Het
B430218F22Rik	A	G	13: 118,387,408		probably benign	Het
BC030867	A	G	11: 102,255,062	T55A	probably benign	Het
Ccnd3	T	A	17: 47,597,562	L186*	probably null	Het
Cnbd1	T	A	4: 19,098,255	Q55L	probably benign	Het
Commd10	A	G	18: 46,963,688	E54G	probably damaging	Het
D6Ertd527e	G	A	6: 87,111,212	G119D	unknown	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Disp2	A	T	2: 118,790,766	I660F	probably damaging	Het
Eef1a2	A	G	2: 181,151,060	F211L	possibly damaging	Het
Epb41	A	T	4: 131,989,873	F323L	probably damaging	Het
Eps8l3	A	T	3: 107,890,465	I403F	probably benign	Het
Ercc5	T	A	1: 44,164,049	V282D	probably damaging	Het
Faim	A	T	9: 98,992,123	M1L	probably benign	Het
Fbxo24	A	G	5: 137,621,281	F111L	probably damaging	Het
Glrx	A	T	13: 75,840,110	I48F	probably damaging	Het
Hectd4	A	G	5: 121,339,498	D2828G	possibly damaging	Het
Hivep2	T	C	10: 14,131,759	V1367A	probably benign	Het
Ipo13	A	G	4: 117,912,154	V147A	possibly damaging	Het
Jchain	T	C	5: 88,526,175	T37A	probably benign	Het
Kif1b	A	G	4: 149,213,643	V1034A	probably benign	Het
Krt25	T	A	11: 99,321,163	N216I	probably damaging	Het
Lman1l	A	G	9: 57,615,624	V151A	probably benign	Het
Mfsd4b1	T	C	10: 40,003,110	S264G	possibly damaging	Het
Mxra8	G	T	4: 155,841,089	R82L	possibly damaging	Het
Nlrp1b	A	T	11: 71,181,799	I406N	probably benign	Het
Olfr1381	A	T	11: 49,551,884	I46F	probably damaging	Het
Olfr155	T	C	4: 43,854,363	L18P	possibly damaging	Het
Olfr191	G	A	16: 59,085,832	S217F	probably damaging	Het
Pak7	T	C	2: 136,174,269		probably benign	Het
Pcsk4	T	C	10: 80,325,592	R222G	probably benign	Het
Pik3cb	A	C	9: 99,094,598	F149V	probably benign	Het
Plscr4	G	A	9: 92,484,828	R165Q	possibly damaging	Het
Ppp2r2a	A	T	14: 67,038,954	V34E	probably damaging	Het
Prpf8	T	G	11: 75,493,508	S659R	possibly damaging	Het
Ptprd	A	G	4: 76,128,995	S342P	probably damaging	Het
Pum2	T	C	12: 8,744,755		probably null	Het
Ranbp3	T	G	17: 56,677,208		probably null	Het
Rassf7	A	G	7: 141,217,243	E123G	probably damaging	Het
Rcor1	G	T	12: 111,111,877	A469S	probably benign	Het
Rcor3	G	T	1: 192,100,896	P524Q	probably damaging	Het
Rnf44	A	T	13: 54,682,107		probably null	Het
Rtf1	T	C	2: 119,675,177	V37A	unknown	Het
Sdc4	A	T	2: 164,431,218	D57E	probably damaging	Het
Setbp1	T	C	18: 78,858,002	T817A	probably benign	Het
Setd1a	A	G	7: 127,791,299	E506G	unknown	Het
Slc30a8	G	A	15: 52,335,149	R330Q	probably benign	Het
Snx22	C	A	9: 66,069,641	E14*	probably null	Het
Spata31d1a	A	G	13: 59,701,801	S838P	possibly damaging	Het
Sprr4	G	T	3: 92,500,463	Q11K	unknown	Het
Trpm3	A	G	19: 22,910,054	N839S	probably benign	Het
Vps9d1	T	C	8: 123,248,208		probably null	Het
Vwa3b	T	C	1: 37,051,885		probably null	Het
Ythdf1	T	C	2: 180,911,100	T414A	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	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
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
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'- GCCAATGGCTACCTGAATGG -3'
(R):5'- AGTCCCAGACGCTCCATTAG -3'

Sequencing Primer
(F):5'- CTGAATGGTCTGTGGCCTCC -3'
(R):5'- ATGGAAAGGCCCCAGTGCTC -3'

Posted On

2018-02-28