Mutagenetix > Incidental Mutations

Incidental Mutation 'R0126:Gucy2g'

21417

Institutional Source

Beutler Lab

Gene Symbol

Gucy2g

Ensembl Gene

ENSMUSG00000055523

Gene Name

guanylate cyclase 2g

Synonyms

GC-G, 2410077I05Rik

MMRRC Submission

038411-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0126 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

55198297-55241236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55241166 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 24 (D24A)

Ref Sequence

ENSEMBL: ENSMUSP00000068253 (fasta)

Gene Model

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

AlphaFold

Q6TL19

Predicted Effect

probably benign
Transcript: ENSMUST00000069183
AA Change: D24A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: D24A

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: 98.8%
3x: 97.6%
10x: 93.2%
20x: 81.8%

Validation Efficiency

98% (102/104)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,443,730	L1730P	possibly damaging	Het
Adam9	T	C	8: 24,970,737	N577S	probably damaging	Het
Add1	T	C	5: 34,613,579	Y316H	probably benign	Het
Agpat3	T	C	10: 78,278,056	D266G	probably null	Het
Aldh3a2	C	A	11: 61,224,558	Q524H	probably benign	Het
Alox12b	A	C	11: 69,167,471	S550R	probably benign	Het
Ano4	T	A	10: 88,952,292	I753F	possibly damaging	Het
AW011738	T	A	4: 156,203,647		probably benign	Het
B4galt3	C	T	1: 171,276,165	T103M	probably damaging	Het
Cabs1	C	T	5: 87,980,195	T235I	probably damaging	Het
Casc4	T	C	2: 121,906,084		probably benign	Het
Casq2	A	G	3: 102,133,399	H272R	probably damaging	Het
Ccdc180	T	C	4: 45,912,866		probably null	Het
Cdh12	A	T	15: 21,583,945	M624L	probably benign	Het
Cdh5	A	C	8: 104,140,682		probably null	Het
Col7a1	A	G	9: 108,969,583		probably benign	Het
Cpne2	A	T	8: 94,554,933	I199F	probably damaging	Het
Crebbp	A	T	16: 4,084,063	F2399L	possibly damaging	Het
Defb36	T	C	2: 152,612,579	C53R	probably damaging	Het
Degs1	T	C	1: 182,279,692	M1V	probably null	Het
Disp2	T	A	2: 118,790,338	F517Y	probably damaging	Het
Dnah5	A	G	15: 28,246,319	D601G	probably benign	Het
Dnpep	G	A	1: 75,312,538	Q310*	probably null	Het
Dsg1a	A	G	18: 20,340,878	T1003A	probably benign	Het
Fbrsl1	C	G	5: 110,396,040		probably benign	Het
Foxh1	A	T	15: 76,669,254	L116H	probably damaging	Het
Gigyf2	G	A	1: 87,411,875		probably benign	Het
Gp1ba	A	T	11: 70,641,033		probably benign	Het
Gucy1b1	A	G	3: 82,037,911		probably benign	Het
Hirip3	A	G	7: 126,863,442	K190R	probably damaging	Het
Hmmr	T	C	11: 40,705,954	N717D	probably damaging	Het
Il12b	A	T	11: 44,410,218	Y187F	probably damaging	Het
Iqgap1	A	G	7: 80,738,322	I859T	probably benign	Het
Jmjd1c	T	C	10: 67,219,326	L175P	probably damaging	Het
Klc2	T	C	19: 5,112,746	M242V	possibly damaging	Het
Klf3	T	C	5: 64,822,103	M96T	probably benign	Het
Lrrc66	G	T	5: 73,607,088	H871N	probably benign	Het
Ltn1	A	T	16: 87,425,640	D168E	probably benign	Het
Mak	T	C	13: 41,032,596	D532G	probably damaging	Het
March6	A	G	15: 31,462,005	M859T	probably benign	Het
Mlxipl	C	A	5: 135,132,323	N365K	probably damaging	Het
Mplkip	T	C	13: 17,695,752	S90P	possibly damaging	Het
Myo5c	A	T	9: 75,269,525	H584L	probably benign	Het
Myt1l	A	G	12: 29,851,720	T228A	possibly damaging	Het
Nxpe3	A	T	16: 55,866,229	Y139N	possibly damaging	Het
Olfr1090	T	A	2: 86,754,637	I34L	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr568	A	G	7: 102,877,140	T7A	probably benign	Het
Pak6	C	T	2: 118,690,332	S268F	possibly damaging	Het
Parp10	G	A	15: 76,243,066	A57V	probably damaging	Het
Pik3r3	T	A	4: 116,256,268	D69E	probably damaging	Het
Polr2a	T	G	11: 69,747,425	K105T	probably damaging	Het
Prdm16	A	T	4: 154,328,838		probably benign	Het
Prepl	G	A	17: 85,083,242	T96I	probably benign	Het
Ret	C	T	6: 118,165,995		probably benign	Het
Rgl3	A	T	9: 21,975,812	D541E	probably benign	Het
Rpa1	A	C	11: 75,318,529	Y143D	probably benign	Het
Rps16	T	A	7: 28,351,083	L47Q	probably damaging	Het
Sbno2	A	T	10: 80,068,853		probably null	Het
Scube1	A	T	15: 83,621,063	N385K	probably damaging	Het
Shank2	A	G	7: 144,031,355	E31G	probably damaging	Het
Slc38a9	G	T	13: 112,729,257	C496F	possibly damaging	Het
Snap47	A	G	11: 59,437,987	V163A	probably damaging	Het
Sntg2	T	C	12: 30,201,261		probably benign	Het
Sp7	C	A	15: 102,358,460	V322F	probably damaging	Het
Spic	T	C	10: 88,676,062	K111E	probably damaging	Het
Sqor	T	C	2: 122,798,027		probably benign	Het
St6galnac1	T	A	11: 116,766,584	M385L	probably benign	Het
Synpo2	A	T	3: 123,079,862	S1211T	possibly damaging	Het
Sytl2	T	A	7: 90,396,589	V638E	probably damaging	Het
Taar1	T	A	10: 23,920,547	S48T	probably benign	Het
Tbx18	T	A	9: 87,729,653	D108V	possibly damaging	Het
Tdh	C	T	14: 63,497,593		probably benign	Het
Tldc1	T	C	8: 119,762,350	D398G	possibly damaging	Het
Tlr9	T	A	9: 106,225,682	L724Q	probably benign	Het
Tmem270	T	A	5: 134,902,788	Y100F	probably benign	Het
Trim65	G	C	11: 116,124,604		probably benign	Het
Trrap	A	T	5: 144,805,750	K1393*	probably null	Het
Ttc13	A	G	8: 124,683,291	V523A	probably damaging	Het
Utrn	T	A	10: 12,711,475	D939V	probably benign	Het
Vmn1r46	G	T	6: 89,976,953	M261I	probably benign	Het
Vwa5a	A	G	9: 38,737,807		probably null	Het
Zfp108	A	T	7: 24,260,724	T247S	probably benign	Het
Zfp366	A	T	13: 99,228,621	I97F	probably benign	Het
Zfp986	C	T	4: 145,898,943	R58C	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
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
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'- ACCTGGTCGATGAAAACCGCAAG -3'
(R):5'- AAGTTCTGGGCACGAATGGTCAAG -3'

Sequencing Primer
(F):5'- ATTGGTGTAAGTGAACTCCCAGC -3'
(R):5'- GTCAAGAGGCTGAGCCTAC -3'

Posted On

2013-04-11