Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Gucy2g'

15418

Institutional Source

Beutler Lab

Gene Symbol

Gucy2g

Ensembl Gene

ENSMUSG00000055523

Gene Name

guanylate cyclase 2g

Synonyms

GC-G, 2410077I05Rik

MMRRC Submission

038334-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0040 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

55198297-55241236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55217302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 709 (T709S)

Ref Sequence

ENSEMBL: ENSMUSP00000068253 (fasta)

Gene Model

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

AlphaFold

Q6TL19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069183
AA Change: T709S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: T709S

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

0.1795

Coding Region Coverage

1x: 84.2%
3x: 77.3%
10x: 61.4%
20x: 43.8%

Validation Efficiency

96% (74/77)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,645,206 (GRCm38)	L356R	possibly damaging	Het
Antxr2	G	A	5: 97,938,425 (GRCm38)	T441I	possibly damaging	Het
Apcs	A	G	1: 172,894,456 (GRCm38)	Y108H	probably benign	Het
Arpp21	T	C	9: 112,147,409 (GRCm38)		probably benign	Het
Atcay	C	T	10: 81,210,519 (GRCm38)		probably null	Het
Bahcc1	A	G	11: 120,268,370 (GRCm38)	D141G	probably damaging	Het
Cacng5	A	T	11: 107,884,510 (GRCm38)	L11Q	probably damaging	Het
Ccdc73	T	C	2: 104,992,084 (GRCm38)	S793P	probably damaging	Het
Ceacam10	A	G	7: 24,778,264 (GRCm38)	Y68C	probably damaging	Het
Csmd3	G	A	15: 47,633,816 (GRCm38)	P3062S	probably damaging	Het
Dctn4	A	G	18: 60,544,042 (GRCm38)	N145D	possibly damaging	Het
Dusp12	A	G	1: 170,880,657 (GRCm38)	Y164H	probably damaging	Het
Fat1	A	G	8: 45,026,404 (GRCm38)	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,486,373 (GRCm38)	T671A	probably damaging	Het
Fndc3b	T	A	3: 27,556,117 (GRCm38)		probably null	Het
Gprc6a	T	A	10: 51,614,984 (GRCm38)	K819*	probably null	Het
Gxylt1	A	T	15: 93,254,555 (GRCm38)		probably benign	Het
Idh2	A	G	7: 80,097,822 (GRCm38)	S317P	probably damaging	Het
Ifi30	T	C	8: 70,763,776 (GRCm38)		probably null	Het
Ifna16	G	A	4: 88,676,630 (GRCm38)	A76V	probably benign	Het
Itpr2	C	T	6: 146,345,140 (GRCm38)	E1127K	probably damaging	Het
Kank4	A	G	4: 98,779,220 (GRCm38)	V330A	probably benign	Het
Kri1	T	C	9: 21,281,105 (GRCm38)	Y131C	probably damaging	Het
Krt71	T	A	15: 101,738,433 (GRCm38)	H280L	possibly damaging	Het
Lox	A	T	18: 52,520,826 (GRCm38)	H399Q	possibly damaging	Het
Mapt	A	G	11: 104,305,398 (GRCm38)	M446V	probably damaging	Het
Mpp7	A	T	18: 7,403,180 (GRCm38)		probably benign	Het
Mycbp2	A	G	14: 103,224,272 (GRCm38)	V1447A	probably benign	Het
Myl3	A	C	9: 110,767,929 (GRCm38)	D119A	probably damaging	Het
Myo1b	A	T	1: 51,781,989 (GRCm38)	I451N	probably damaging	Het
Nubp1	A	G	16: 10,421,117 (GRCm38)	T199A	probably damaging	Het
Olfml2b	A	G	1: 170,668,751 (GRCm38)	H317R	probably benign	Het
Pard3b	A	T	1: 62,637,820 (GRCm38)	Y1170F	probably damaging	Het
Pear1	T	C	3: 87,754,358 (GRCm38)	D536G	probably damaging	Het
Pira6	A	G	7: 4,281,483 (GRCm38)		noncoding transcript	Het
Pkhd1l1	T	A	15: 44,573,625 (GRCm38)	Y3460N	probably damaging	Het
Plxna2	G	T	1: 194,643,896 (GRCm38)	R46L	probably benign	Het
Rnf168	T	A	16: 32,278,173 (GRCm38)		probably null	Het
Rpl14	C	G	9: 120,572,101 (GRCm38)	F3L	possibly damaging	Het
Scara5	C	T	14: 65,762,717 (GRCm38)		probably benign	Het
Sh3rf1	T	A	8: 61,329,252 (GRCm38)	Y143N	possibly damaging	Het
Slc4a8	T	A	15: 100,789,846 (GRCm38)	I288N	probably damaging	Het
Synpr	G	A	14: 13,563,024 (GRCm38)	A86T	probably damaging	Het
Ttc38	C	A	15: 85,841,489 (GRCm38)	F184L	probably damaging	Het
Wdpcp	A	G	11: 21,711,638 (GRCm38)	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,867,914 (GRCm38)	A483T	probably benign	Het
Zfp106	C	A	2: 120,531,613 (GRCm38)	K1008N	probably damaging	Het
Zfp68	G	A	5: 138,607,779 (GRCm38)	T94I	probably benign	Het
Zfp867	C	T	11: 59,463,865 (GRCm38)	A213T	possibly damaging	Het
Zkscan3	A	T	13: 21,394,920 (GRCm38)		probably null	Het

Other mutations in Gucy2g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Gucy2g	APN	19	55,233,103 (GRCm38)	missense	probably benign	0.01
IGL01954:Gucy2g	APN	19	55,198,691 (GRCm38)	missense	probably benign	0.01
IGL01969:Gucy2g	APN	19	55,227,438 (GRCm38)	missense	probably benign	0.00
IGL02164:Gucy2g	APN	19	55,238,023 (GRCm38)	missense	probably benign
IGL02534:Gucy2g	APN	19	55,241,068 (GRCm38)	missense	probably damaging	1.00
IGL02667:Gucy2g	APN	19	55,206,177 (GRCm38)	missense	possibly damaging	0.64
IGL02755:Gucy2g	APN	19	55,210,354 (GRCm38)	missense	probably benign	0.10
IGL03187:Gucy2g	APN	19	55,231,052 (GRCm38)	missense	possibly damaging	0.91
IGL03354:Gucy2g	APN	19	55,233,080 (GRCm38)	missense	possibly damaging	0.95
PIT4366001:Gucy2g	UTSW	19	55,237,782 (GRCm38)	missense	probably null	0.51
R0126:Gucy2g	UTSW	19	55,241,166 (GRCm38)	missense	probably benign
R0318:Gucy2g	UTSW	19	55,237,798 (GRCm38)	missense	probably benign	0.00
R0576:Gucy2g	UTSW	19	55,198,770 (GRCm38)	missense	probably damaging	1.00
R0604:Gucy2g	UTSW	19	55,203,087 (GRCm38)	missense	probably benign	0.00
R0962:Gucy2g	UTSW	19	55,210,284 (GRCm38)	nonsense	probably null
R1348:Gucy2g	UTSW	19	55,222,906 (GRCm38)	missense	possibly damaging	0.68
R1458:Gucy2g	UTSW	19	55,215,036 (GRCm38)	splice site	probably benign
R1693:Gucy2g	UTSW	19	55,222,926 (GRCm38)	missense	probably damaging	1.00
R1795:Gucy2g	UTSW	19	55,199,541 (GRCm38)	missense	probably damaging	1.00
R1804:Gucy2g	UTSW	19	55,210,309 (GRCm38)	missense	probably benign	0.34
R1830:Gucy2g	UTSW	19	55,222,930 (GRCm38)	missense	possibly damaging	0.94
R1902:Gucy2g	UTSW	19	55,210,237 (GRCm38)	missense	probably benign	0.20
R1927:Gucy2g	UTSW	19	55,237,759 (GRCm38)	missense	probably benign	0.02
R1969:Gucy2g	UTSW	19	55,233,053 (GRCm38)	missense	probably benign	0.42
R1969:Gucy2g	UTSW	19	55,222,896 (GRCm38)	missense	possibly damaging	0.90
R2071:Gucy2g	UTSW	19	55,222,340 (GRCm38)	missense	possibly damaging	0.72
R2842:Gucy2g	UTSW	19	55,240,947 (GRCm38)	missense	probably damaging	1.00
R2971:Gucy2g	UTSW	19	55,210,276 (GRCm38)	missense	probably damaging	1.00
R4202:Gucy2g	UTSW	19	55,229,769 (GRCm38)	missense	possibly damaging	0.96
R4405:Gucy2g	UTSW	19	55,237,837 (GRCm38)	missense	probably benign	0.08
R4407:Gucy2g	UTSW	19	55,237,837 (GRCm38)	missense	probably benign	0.08
R4614:Gucy2g	UTSW	19	55,202,147 (GRCm38)	nonsense	probably null
R4671:Gucy2g	UTSW	19	55,238,068 (GRCm38)	missense	probably damaging	1.00
R4684:Gucy2g	UTSW	19	55,206,256 (GRCm38)	missense	probably damaging	1.00
R4837:Gucy2g	UTSW	19	55,226,053 (GRCm38)	missense	probably benign
R4969:Gucy2g	UTSW	19	55,226,013 (GRCm38)	missense	probably benign
R5050:Gucy2g	UTSW	19	55,240,935 (GRCm38)	missense	probably benign	0.05
R5059:Gucy2g	UTSW	19	55,226,071 (GRCm38)	missense	probably benign	0.00
R5070:Gucy2g	UTSW	19	55,229,787 (GRCm38)	missense	probably damaging	0.98
R5288:Gucy2g	UTSW	19	55,215,116 (GRCm38)	missense	probably damaging	1.00
R5384:Gucy2g	UTSW	19	55,215,116 (GRCm38)	missense	probably damaging	1.00
R5386:Gucy2g	UTSW	19	55,215,116 (GRCm38)	missense	probably damaging	1.00
R5497:Gucy2g	UTSW	19	55,198,701 (GRCm38)	missense	probably benign	0.00
R5531:Gucy2g	UTSW	19	55,241,140 (GRCm38)	missense	probably benign	0.24
R5536:Gucy2g	UTSW	19	55,237,927 (GRCm38)	missense	probably benign	0.05
R5679:Gucy2g	UTSW	19	55,231,079 (GRCm38)	missense	possibly damaging	0.87
R5715:Gucy2g	UTSW	19	55,233,155 (GRCm38)	missense	possibly damaging	0.93
R5941:Gucy2g	UTSW	19	55,215,131 (GRCm38)	missense	probably damaging	1.00
R6250:Gucy2g	UTSW	19	55,217,424 (GRCm38)	missense	probably damaging	0.99
R6288:Gucy2g	UTSW	19	55,227,513 (GRCm38)	missense	probably benign	0.01
R6378:Gucy2g	UTSW	19	55,240,945 (GRCm38)	missense	probably benign	0.00
R6605:Gucy2g	UTSW	19	55,241,028 (GRCm38)	missense	probably damaging	1.00
R7020:Gucy2g	UTSW	19	55,233,050 (GRCm38)	missense	probably damaging	0.98
R7064:Gucy2g	UTSW	19	55,210,332 (GRCm38)	missense	probably benign	0.01
R7078:Gucy2g	UTSW	19	55,241,151 (GRCm38)	missense	probably damaging	1.00
R7402:Gucy2g	UTSW	19	55,206,293 (GRCm38)	missense	probably damaging	1.00
R7539:Gucy2g	UTSW	19	55,203,154 (GRCm38)	missense	probably damaging	0.99
R7561:Gucy2g	UTSW	19	55,206,340 (GRCm38)	missense	probably benign	0.38
R7583:Gucy2g	UTSW	19	55,235,615 (GRCm38)	missense	probably damaging	1.00
R7804:Gucy2g	UTSW	19	55,228,152 (GRCm38)	missense	probably benign	0.02
R7880:Gucy2g	UTSW	19	55,206,280 (GRCm38)	missense	probably damaging	1.00
R8442:Gucy2g	UTSW	19	55,217,401 (GRCm38)	missense	probably benign	0.00
R8559:Gucy2g	UTSW	19	55,210,354 (GRCm38)	missense	probably benign	0.10
R8970:Gucy2g	UTSW	19	55,203,046 (GRCm38)	missense	possibly damaging	0.56
R8972:Gucy2g	UTSW	19	55,237,974 (GRCm38)	missense	probably benign	0.17
R9085:Gucy2g	UTSW	19	55,233,165 (GRCm38)	nonsense	probably null
R9390:Gucy2g	UTSW	19	55,202,175 (GRCm38)	missense	probably null	1.00
R9462:Gucy2g	UTSW	19	55,233,037 (GRCm38)	critical splice donor site	probably null
R9502:Gucy2g	UTSW	19	55,210,384 (GRCm38)	missense	probably damaging	1.00
R9610:Gucy2g	UTSW	19	55,206,173 (GRCm38)	missense	probably damaging	1.00
R9611:Gucy2g	UTSW	19	55,206,173 (GRCm38)	missense	probably damaging	1.00
R9644:Gucy2g	UTSW	19	55,231,105 (GRCm38)	missense	probably benign	0.05
Z1177:Gucy2g	UTSW	19	55,210,377 (GRCm38)	missense	probably benign	0.00

Posted On

2012-12-21