Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4366001:Gucy2g'

554800

Institutional Source

Beutler Lab

Gene Symbol

Gucy2g

Ensembl Gene

ENSMUSG00000055523

Gene Name

guanylate cyclase 2g

Synonyms

GC-G, 2410077I05Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4366001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55198297-55241236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55237782 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 234 (E234V)

Ref Sequence

ENSEMBL: ENSMUSP00000068253 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000069183
AA Change: E234V

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: E234V

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: 93.0%
3x: 90.7%
10x: 85.5%
20x: 73.8%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	A	11: 120,010,960	S870I	possibly damaging	Het
Abca13	T	C	11: 9,294,962	V2275A	probably benign	Het
Abcb5	T	C	12: 118,936,098	K278R	probably damaging	Het
Adcy2	TA	TAA	13: 68,709,990		probably benign	Het
Add3	C	T	19: 53,216,867	P16L	unknown	Het
Akap9	T	A	5: 4,046,221	D2365E	probably benign	Het
Asah1	A	G	8: 41,343,746	S300P	possibly damaging	Het
Astn1	A	T	1: 158,597,209	H655L	probably benign	Het
Astn1	A	T	1: 158,597,211	I656F	probably benign	Het
Bmpr1b	T	A	3: 141,880,463	T13S	probably benign	Het
Camsap2	A	G	1: 136,280,317	F478L		Het
Card10	G	A	15: 78,787,431	S611L	probably benign	Het
Cep68	T	C	11: 20,240,007	N335S	probably benign	Het
Chac1	T	C	2: 119,351,505	W35R	probably damaging	Het
Cntn6	T	C	6: 104,832,537	V511A	probably benign	Het
Cpne9	G	T	6: 113,294,746	G356W	probably damaging	Het
Dnah10	C	A	5: 124,775,524	T1939K	possibly damaging	Het
Dock10	T	C	1: 80,595,721	N239D	probably benign	Het
Dock5	T	C	14: 67,824,674	K415R	possibly damaging	Het
Dtd2	C	A	12: 51,999,799	D86Y	probably damaging	Het
Efcab9	A	G	11: 32,523,608	F127S	probably damaging	Het
Ermp1	T	C	19: 29,628,789	H375R	probably benign	Het
Frem2	A	T	3: 53,653,201	M1295K	probably damaging	Het
Gbp7	T	G	3: 142,542,951	I325R	probably benign	Het
Gpr179	T	C	11: 97,336,851	K1493E	probably benign	Het
Itpr1	T	A	6: 108,493,757	C2215*	probably null	Het
Ltn1	G	A	16: 87,380,840	R1634*	probably null	Het
Lynx1	A	T	15: 74,751,409	M58K	possibly damaging	Het
Macc1	T	C	12: 119,446,949	V484A	probably benign	Het
Map3k9	C	T	12: 81,772,761	V240M	possibly damaging	Het
Marc1	A	G	1: 184,807,186	F96S	probably benign	Het
Mars	A	G	10: 127,299,398	M608T	possibly damaging	Het
Mc2r	T	C	18: 68,407,755	M156V	probably benign	Het
Mchr1	G	T	15: 81,237,216	V56L	probably benign	Het
Mlxip	C	T	5: 123,395,110	P61S	probably benign	Het
Muc4	A	G	16: 32,754,796	T1557A	unknown	Het
Myt1	T	C	2: 181,825,938	V1135A	probably damaging	Het
Ndufaf6	A	T	4: 11,073,215	S76T	probably benign	Het
Ntrk2	A	G	13: 59,060,335	Y665C	probably damaging	Het
Oaz3	T	G	3: 94,433,594	R215S	unknown	Het
Olfr1022	T	C	2: 85,868,882	C97R	probably damaging	Het
Olfr1031	A	T	2: 85,992,041	N75Y	probably damaging	Het
Olfr1133	C	T	2: 87,645,190	W311*	probably null	Het
Olfr417	T	C	1: 174,369,090	Y58H	probably damaging	Het
Perm1	G	T	4: 156,218,735	V579L	probably benign	Het
Phyhipl	A	G	10: 70,568,958	V140A	probably benign	Het
Pip5k1c	T	A	10: 81,309,008	S228T	probably damaging	Het
Plekhn1	T	G	4: 156,224,811	T213P	probably damaging	Het
Pomt2	A	T	12: 87,116,529		probably null	Het
Ptcd1	A	G	5: 145,151,335	V622A	probably benign	Het
Ptn	T	A	6: 36,741,349	H127L	probably benign	Het
Ptprk	A	T	10: 28,586,019	M1193L	probably benign	Het
Ptpru	G	A	4: 131,799,712	P650S	probably benign	Het
Pum2	T	A	12: 8,733,390	L613Q	probably damaging	Het
Rapgef6	A	G	11: 54,691,620	T1458A	probably damaging	Het
Sap130	C	T	18: 31,677,409	A470V	probably benign	Het
Sertad2	C	A	11: 20,648,116	P104Q	probably benign	Het
Sfrp4	A	T	13: 19,630,244	M324L	unknown	Het
Sh3bp4	A	G	1: 89,145,434	N668S	probably benign	Het
Snx30	C	A	4: 59,894,653	D410E	probably benign	Het
Spata31	C	A	13: 64,921,505	S489*	probably null	Het
Taok3	T	A	5: 117,227,985	M367K	probably benign	Het
Tfap2a	T	C	13: 40,721,374	N254D	possibly damaging	Het
Tgtp1	T	G	11: 48,987,040	L279F	possibly damaging	Het
Tmpo	A	G	10: 91,163,310	F205S	probably damaging	Het
Tmprss5	A	T	9: 49,112,217	I218L	probably benign	Het
Tti2	A	G	8: 31,151,196	E116G	probably benign	Het
Vmn2r59	A	T	7: 42,045,781	N402K	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
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
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
Z1177:Gucy2g	UTSW	19	55210377	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCACAACTCTATAAGATCTGTG -3'
(R):5'- CCAAGCAGGAAATCAGTGCG -3'

Sequencing Primer
(F):5'- GTGATTTCACATCACATGCata -3'
(R):5'- CAGGAAATCAGTGCGGTGCTTC -3'

Posted On

2019-06-07