Mutagenetix > Incidental Mutation

Incidental Mutation 'R8442:Gucy2g'

654273

Institutional Source

Beutler Lab

Gene Symbol

Gucy2g

Ensembl Gene

ENSMUSG00000055523

Gene Name

guanylate cyclase 2g

Synonyms

2410077I05Rik, GC-G

MMRRC Submission

067779-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8442 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55186531-55229668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55205833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 676 (R676G)

Ref Sequence

ENSEMBL: ENSMUSP00000068253 (fasta)

Gene Model

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

AlphaFold

Q6TL19

Predicted Effect

probably benign
Transcript: ENSMUST00000069183
AA Change: R676G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: R676G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apof	T	C	10: 128,104,891 (GRCm39)	L15P	probably damaging	Het
BC048671	T	C	6: 90,282,095 (GRCm39)	F84S	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
C2cd4a	C	T	9: 67,739,039 (GRCm39)	M1I	probably null	Het
Cd72	T	A	4: 43,450,109 (GRCm39)	K266N	possibly damaging	Het
Col12a1	A	G	9: 79,542,781 (GRCm39)	F2328S	probably damaging	Het
Cubn	T	C	2: 13,318,855 (GRCm39)	Y2948C	probably damaging	Het
Dagla	A	G	19: 10,240,456 (GRCm39)		probably null	Het
Dagla	A	G	19: 10,248,883 (GRCm39)	F24L	probably damaging	Het
Dnah14	A	G	1: 181,568,849 (GRCm39)	T2860A	probably damaging	Het
Efcab2	A	T	1: 178,265,001 (GRCm39)	K22N	probably benign	Het
Flt1	C	T	5: 147,512,983 (GRCm39)	R1118Q	probably damaging	Het
Foxl1	T	A	8: 121,855,224 (GRCm39)	L175Q	possibly damaging	Het
Gm572	G	T	4: 148,743,450 (GRCm39)	R140L	possibly damaging	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hspb8	T	C	5: 116,560,504 (GRCm39)	Y12C	probably damaging	Het
Igf2bp2	A	C	16: 21,883,841 (GRCm39)		probably null	Het
Igkv9-129	T	A	6: 67,816,784 (GRCm39)	M3K	probably damaging	Het
Il5	C	T	11: 53,612,651 (GRCm39)	P54S	probably damaging	Het
Kif18a	T	C	2: 109,125,318 (GRCm39)	I245T	possibly damaging	Het
Kif2b	T	A	11: 91,467,140 (GRCm39)	N381I	possibly damaging	Het
Lrrc49	A	G	9: 60,500,908 (GRCm39)	F679S	probably benign	Het
Med24	A	G	11: 98,598,383 (GRCm39)	F742L	probably benign	Het
Msh3	T	C	13: 92,349,020 (GRCm39)	T1071A	probably benign	Het
Neb	T	C	2: 52,177,220 (GRCm39)	T1374A	probably damaging	Het
Or4d6	A	T	19: 12,086,091 (GRCm39)	I47N	probably damaging	Het
Or5p75-ps1	A	C	7: 108,107,851 (GRCm39)	Q196P	unknown	Het
P3h2	A	G	16: 25,805,955 (GRCm39)	I296T	probably benign	Het
Pcdhb21	A	T	18: 37,646,841 (GRCm39)		probably benign	Het
Prkab2	G	T	3: 97,566,002 (GRCm39)	G25C	probably damaging	Het
Ptprm	C	A	17: 67,251,312 (GRCm39)	A522S	possibly damaging	Het
Scarf2	A	G	16: 17,624,231 (GRCm39)	D512G	probably benign	Het
Sema3d	A	G	5: 12,592,608 (GRCm39)	T346A	probably damaging	Het
Septin7	T	C	9: 25,163,938 (GRCm39)	S2P	unknown	Het
Sfrp5	A	G	19: 42,187,236 (GRCm39)	V278A	probably benign	Het
Taar1	T	A	10: 23,796,522 (GRCm39)	C73*	probably null	Het
Tek	T	A	4: 94,715,922 (GRCm39)	L448Q	probably benign	Het
Tmem132a	A	C	19: 10,835,833 (GRCm39)	L899R	probably damaging	Het
Txndc5	T	C	13: 38,711,845 (GRCm39)		probably benign	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Uggt1	A	G	1: 36,212,568 (GRCm39)	S925P	probably damaging	Het
Unc13d	A	T	11: 115,958,657 (GRCm39)	D786E	probably damaging	Het
Vmn1r26	T	C	6: 57,985,728 (GRCm39)	T154A	possibly damaging	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
R1348:Gucy2g	UTSW	19	55,211,338 (GRCm39)	missense	possibly damaging	0.68
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
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'- CCCATAGGTTCCCACGAAAG -3'
(R):5'- GCATCGTCTCTAAATTCTGAGC -3'

Sequencing Primer
(F):5'- TCTGACCATTTAGCCCACAG -3'
(R):5'- GAGCCTGCTTCCTTCTGGG -3'

Posted On

2020-10-20