Mutagenetix > Incidental Mutation

Incidental Mutation 'R5679:Gucy2g'

442954

Institutional Source

Beutler Lab

Gene Symbol

Gucy2g

Ensembl Gene

ENSMUSG00000055523

Gene Name

guanylate cyclase 2g

Synonyms

2410077I05Rik, GC-G

MMRRC Submission

043176-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5679 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55186531-55229668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55219511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 370 (K370N)

Ref Sequence

ENSEMBL: ENSMUSP00000068253 (fasta)

Gene Model

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

AlphaFold

Q6TL19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069183
AA Change: K370N

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: K370N

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	G	A	11: 61,107,994 (GRCm39)	R346Q	probably benign	Het
Bcat1	A	T	6: 144,953,474 (GRCm39)	F304L	probably damaging	Het
Ccdc178	T	G	18: 22,200,486 (GRCm39)	K439N	probably benign	Het
Cdkn2a	T	C	4: 89,195,098 (GRCm39)	D84G	possibly damaging	Het
Chst8	T	A	7: 34,374,729 (GRCm39)	H370L	probably damaging	Het
Dimt1	A	G	13: 107,084,108 (GRCm39)	T32A	possibly damaging	Het
Dph6	T	C	2: 114,398,422 (GRCm39)	I162V	probably benign	Het
E230025N22Rik	C	T	18: 36,818,435 (GRCm39)	G465R	possibly damaging	Het
Fam3d	T	C	14: 8,349,305 (GRCm38)	E215G	probably damaging	Het
Fbxw7	T	A	3: 84,884,794 (GRCm39)	N612K	probably damaging	Het
Gpr179	A	G	11: 97,227,571 (GRCm39)	V1528A	probably benign	Het
Ipo13	A	T	4: 117,752,029 (GRCm39)	W903R	probably damaging	Het
Itgax	T	A	7: 127,734,162 (GRCm39)	H311Q	probably benign	Het
Kmt2d	T	C	15: 98,752,153 (GRCm39)		probably benign	Het
Lox	T	C	18: 52,661,989 (GRCm39)	N138S	probably benign	Het
Mre11a	T	A	9: 14,698,215 (GRCm39)	I21N	probably damaging	Het
Ncan	T	G	8: 70,565,276 (GRCm39)	Y217S	probably damaging	Het
Nfil3	A	G	13: 53,122,527 (GRCm39)	F126L	possibly damaging	Het
Nfu1	T	C	6: 86,996,379 (GRCm39)	V110A	probably damaging	Het
Or12e8	T	C	2: 87,187,889 (GRCm39)	F34L	possibly damaging	Het
Or5e1	A	G	7: 108,354,203 (GRCm39)	I47V	probably damaging	Het
Or5g9	A	T	2: 85,552,390 (GRCm39)	I214F	probably damaging	Het
Palld	T	C	8: 62,137,979 (GRCm39)	Q592R	possibly damaging	Het
Pcdhac1	T	A	18: 37,225,530 (GRCm39)	L781Q	probably damaging	Het
Rcl1	A	G	19: 29,098,658 (GRCm39)		probably null	Het
Saxo1	C	T	4: 86,363,272 (GRCm39)	V404I	possibly damaging	Het
Scrt1	T	A	15: 76,403,262 (GRCm39)	T243S	unknown	Het
Slc22a30	G	T	19: 8,313,135 (GRCm39)	T550K	possibly damaging	Het
Strc	A	G	2: 121,198,581 (GRCm39)	S1437P	probably benign	Het
Tecpr1	T	A	5: 144,144,241 (GRCm39)	I654F	possibly damaging	Het
Tfcp2l1	A	G	1: 118,596,377 (GRCm39)	M371V	probably benign	Het
Vmn2r11	T	C	5: 109,202,708 (GRCm39)	N123S	probably benign	Het
Wdr81	T	C	11: 75,343,749 (GRCm39)	D506G	probably damaging	Het
Xylt1	A	G	7: 117,242,877 (GRCm39)	D640G	probably damaging	Het
Zfp148	T	G	16: 33,316,156 (GRCm39)	M276R	probably damaging	Het
Zfp329	G	A	7: 12,543,958 (GRCm39)	T522I	probably 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
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'- AGGAAGCTCTAAGCCCATATGC -3'
(R):5'- AGGTTTGCTATCATCCGGTG -3'

Sequencing Primer
(F):5'- TGCCCTATGGAAAACTGGAATTGTG -3'
(R):5'- ACACACACACTGGCGTGG -3'

Posted On

2016-11-09