Mutagenetix > Incidental Mutation

Incidental Mutation 'R1348:Gucy2g'

156586

Institutional Source

Beutler Lab

Gene Symbol

Gucy2g

Ensembl Gene

ENSMUSG00000055523

Gene Name

guanylate cyclase 2g

Synonyms

2410077I05Rik, GC-G

MMRRC Submission

039413-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55186531-55229668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55211338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 631 (V631I)

Ref Sequence

ENSEMBL: ENSMUSP00000068253 (fasta)

Gene Model

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

AlphaFold

Q6TL19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069183
AA Change: V631I

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: V631I

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: 98.8%
3x: 97.6%
10x: 94.2%
20x: 87.2%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,593,212 (GRCm39)		probably null	Het
Art1	G	A	7: 101,756,579 (GRCm39)	A33T	possibly damaging	Het
Aspa	G	A	11: 73,215,309 (GRCm39)	T2I	probably damaging	Het
Cntn1	C	T	15: 92,212,544 (GRCm39)	T902I	probably damaging	Het
Dpep1	G	A	8: 123,925,899 (GRCm39)	C118Y	probably benign	Het
Garin1a	A	G	6: 29,283,284 (GRCm39)	H36R	probably benign	Het
Igf1r	C	G	7: 67,868,216 (GRCm39)	N1220K	probably damaging	Het
Insr	A	T	8: 3,242,635 (GRCm39)	I28N	probably damaging	Het
Katnal2	T	C	18: 77,066,238 (GRCm39)		probably null	Het
Klrb1a	T	C	6: 128,586,797 (GRCm39)	D156G	possibly damaging	Het
Kpna6	G	A	4: 129,555,152 (GRCm39)	R26*	probably null	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Naa15	C	G	3: 51,373,091 (GRCm39)	C661W	probably damaging	Het
Or10g7	T	C	9: 39,905,124 (GRCm39)	I6T	probably benign	Het
Or1e1	G	T	11: 73,244,682 (GRCm39)	M34I	probably benign	Het
Or8g20	A	G	9: 39,396,532 (GRCm39)	S3P	probably benign	Het
Paxbp1	A	G	16: 90,831,904 (GRCm39)	V328A	probably damaging	Het
Pkd1l1	T	C	11: 8,784,806 (GRCm39)	T1993A	probably benign	Het
Pold1	C	T	7: 44,184,106 (GRCm39)	V865I	probably benign	Het
Racgap1	A	G	15: 99,524,246 (GRCm39)	I387T	possibly damaging	Het
Rbm15	G	T	3: 107,239,946 (GRCm39)	R151S	possibly damaging	Het
Rbms2	C	T	10: 128,012,214 (GRCm39)		probably null	Het
Recql4	A	G	15: 76,593,411 (GRCm39)	I140T	probably benign	Het
Shld2	T	A	14: 33,990,880 (GRCm39)	I9F	probably damaging	Het
Sorl1	A	T	9: 41,911,708 (GRCm39)		probably null	Het
Speg	G	A	1: 75,399,516 (GRCm39)	G2321D	probably damaging	Het
Trp53tg5	A	G	2: 164,315,521 (GRCm39)		probably null	Het
Tyw3	A	C	3: 154,299,451 (GRCm39)	M86R	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,963 (GRCm39)	C209Y	probably benign	Het
Zfp472	T	A	17: 33,196,794 (GRCm39)	F290I	probably benign	Het

Other mutations in Gucy2g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Gucy2g	APN	19	55,221,535 (GRCm39)	missense	probably benign	0.01
IGL01954:Gucy2g	APN	19	55,187,123 (GRCm39)	missense	probably benign	0.01
IGL01969:Gucy2g	APN	19	55,215,870 (GRCm39)	missense	probably benign	0.00
IGL02164:Gucy2g	APN	19	55,226,455 (GRCm39)	missense	probably benign
IGL02534:Gucy2g	APN	19	55,229,500 (GRCm39)	missense	probably damaging	1.00
IGL02667:Gucy2g	APN	19	55,194,609 (GRCm39)	missense	possibly damaging	0.64
IGL02755:Gucy2g	APN	19	55,198,786 (GRCm39)	missense	probably benign	0.10
IGL03187:Gucy2g	APN	19	55,219,484 (GRCm39)	missense	possibly damaging	0.91
IGL03354:Gucy2g	APN	19	55,221,512 (GRCm39)	missense	possibly damaging	0.95
PIT4366001:Gucy2g	UTSW	19	55,226,214 (GRCm39)	missense	probably null	0.51
R0040:Gucy2g	UTSW	19	55,205,734 (GRCm39)	missense	possibly damaging	0.73
R0126:Gucy2g	UTSW	19	55,229,598 (GRCm39)	missense	probably benign
R0318:Gucy2g	UTSW	19	55,226,230 (GRCm39)	missense	probably benign	0.00
R0576:Gucy2g	UTSW	19	55,187,202 (GRCm39)	missense	probably damaging	1.00
R0604:Gucy2g	UTSW	19	55,191,519 (GRCm39)	missense	probably benign	0.00
R0962:Gucy2g	UTSW	19	55,198,716 (GRCm39)	nonsense	probably null
R1458:Gucy2g	UTSW	19	55,203,468 (GRCm39)	splice site	probably benign
R1693:Gucy2g	UTSW	19	55,211,358 (GRCm39)	missense	probably damaging	1.00
R1795:Gucy2g	UTSW	19	55,187,973 (GRCm39)	missense	probably damaging	1.00
R1804:Gucy2g	UTSW	19	55,198,741 (GRCm39)	missense	probably benign	0.34
R1830:Gucy2g	UTSW	19	55,211,362 (GRCm39)	missense	possibly damaging	0.94
R1902:Gucy2g	UTSW	19	55,198,669 (GRCm39)	missense	probably benign	0.20
R1927:Gucy2g	UTSW	19	55,226,191 (GRCm39)	missense	probably benign	0.02
R1969:Gucy2g	UTSW	19	55,221,485 (GRCm39)	missense	probably benign	0.42
R1969:Gucy2g	UTSW	19	55,211,328 (GRCm39)	missense	possibly damaging	0.90
R2071:Gucy2g	UTSW	19	55,210,772 (GRCm39)	missense	possibly damaging	0.72
R2842:Gucy2g	UTSW	19	55,229,379 (GRCm39)	missense	probably damaging	1.00
R2971:Gucy2g	UTSW	19	55,198,708 (GRCm39)	missense	probably damaging	1.00
R4202:Gucy2g	UTSW	19	55,218,201 (GRCm39)	missense	possibly damaging	0.96
R4405:Gucy2g	UTSW	19	55,226,269 (GRCm39)	missense	probably benign	0.08
R4407:Gucy2g	UTSW	19	55,226,269 (GRCm39)	missense	probably benign	0.08
R4614:Gucy2g	UTSW	19	55,190,579 (GRCm39)	nonsense	probably null
R4671:Gucy2g	UTSW	19	55,226,500 (GRCm39)	missense	probably damaging	1.00
R4684:Gucy2g	UTSW	19	55,194,688 (GRCm39)	missense	probably damaging	1.00
R4837:Gucy2g	UTSW	19	55,214,485 (GRCm39)	missense	probably benign
R4969:Gucy2g	UTSW	19	55,214,445 (GRCm39)	missense	probably benign
R5050:Gucy2g	UTSW	19	55,229,367 (GRCm39)	missense	probably benign	0.05
R5059:Gucy2g	UTSW	19	55,214,503 (GRCm39)	missense	probably benign	0.00
R5070:Gucy2g	UTSW	19	55,218,219 (GRCm39)	missense	probably damaging	0.98
R5288:Gucy2g	UTSW	19	55,203,548 (GRCm39)	missense	probably damaging	1.00
R5384:Gucy2g	UTSW	19	55,203,548 (GRCm39)	missense	probably damaging	1.00
R5386:Gucy2g	UTSW	19	55,203,548 (GRCm39)	missense	probably damaging	1.00
R5497:Gucy2g	UTSW	19	55,187,133 (GRCm39)	missense	probably benign	0.00
R5531:Gucy2g	UTSW	19	55,229,572 (GRCm39)	missense	probably benign	0.24
R5536:Gucy2g	UTSW	19	55,226,359 (GRCm39)	missense	probably benign	0.05
R5679:Gucy2g	UTSW	19	55,219,511 (GRCm39)	missense	possibly damaging	0.87
R5715:Gucy2g	UTSW	19	55,221,587 (GRCm39)	missense	possibly damaging	0.93
R5941:Gucy2g	UTSW	19	55,203,563 (GRCm39)	missense	probably damaging	1.00
R6250:Gucy2g	UTSW	19	55,205,856 (GRCm39)	missense	probably damaging	0.99
R6288:Gucy2g	UTSW	19	55,215,945 (GRCm39)	missense	probably benign	0.01
R6378:Gucy2g	UTSW	19	55,229,377 (GRCm39)	missense	probably benign	0.00
R6605:Gucy2g	UTSW	19	55,229,460 (GRCm39)	missense	probably damaging	1.00
R7020:Gucy2g	UTSW	19	55,221,482 (GRCm39)	missense	probably damaging	0.98
R7064:Gucy2g	UTSW	19	55,198,764 (GRCm39)	missense	probably benign	0.01
R7078:Gucy2g	UTSW	19	55,229,583 (GRCm39)	missense	probably damaging	1.00
R7402:Gucy2g	UTSW	19	55,194,725 (GRCm39)	missense	probably damaging	1.00
R7539:Gucy2g	UTSW	19	55,191,586 (GRCm39)	missense	probably damaging	0.99
R7561:Gucy2g	UTSW	19	55,194,772 (GRCm39)	missense	probably benign	0.38
R7583:Gucy2g	UTSW	19	55,224,047 (GRCm39)	missense	probably damaging	1.00
R7804:Gucy2g	UTSW	19	55,216,584 (GRCm39)	missense	probably benign	0.02
R7880:Gucy2g	UTSW	19	55,194,712 (GRCm39)	missense	probably damaging	1.00
R8442:Gucy2g	UTSW	19	55,205,833 (GRCm39)	missense	probably benign	0.00
R8559:Gucy2g	UTSW	19	55,198,786 (GRCm39)	missense	probably benign	0.10
R8970:Gucy2g	UTSW	19	55,191,478 (GRCm39)	missense	possibly damaging	0.56
R8972:Gucy2g	UTSW	19	55,226,406 (GRCm39)	missense	probably benign	0.17
R9085:Gucy2g	UTSW	19	55,221,597 (GRCm39)	nonsense	probably null
R9390:Gucy2g	UTSW	19	55,190,607 (GRCm39)	missense	probably null	1.00
R9462:Gucy2g	UTSW	19	55,221,469 (GRCm39)	critical splice donor site	probably null
R9502:Gucy2g	UTSW	19	55,198,816 (GRCm39)	missense	probably damaging	1.00
R9610:Gucy2g	UTSW	19	55,194,605 (GRCm39)	missense	probably damaging	1.00
R9611:Gucy2g	UTSW	19	55,194,605 (GRCm39)	missense	probably damaging	1.00
R9644:Gucy2g	UTSW	19	55,219,537 (GRCm39)	missense	probably benign	0.05
Z1177:Gucy2g	UTSW	19	55,198,809 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGAAGCAGCCCAAGGTAATTCAG -3'
(R):5'- ACAGTGATGCAGGGTCACACAC -3'

Sequencing Primer
(F):5'- GCCCAAGGTAATTCAGGTCTC -3'
(R):5'- ccttccaggcatccgttc -3'

Posted On

2014-02-11