Mutagenetix > Incidental Mutations

Incidental Mutation 'R7733:G6pc2'

595960

Institutional Source

Beutler Lab

Gene Symbol

G6pc2

Ensembl Gene

ENSMUSG00000005232

Gene Name

glucose-6-phosphatase, catalytic, 2

Synonyms

IGRP, G6pc-rs, islet specific glucose-6-phosphatase

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7733 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69211073-69227841 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 69220183 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 51 (Q51*)

Ref Sequence

ENSEMBL: ENSMUSP00000005364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005364] [ENSMUST00000112317]

Predicted Effect

probably null
Transcript: ENSMUST00000005364
AA Change: Q51*

SMART Domains

Protein: ENSMUSP00000005364
Gene: ENSMUSG00000005232
AA Change: Q51*

Domain	Start	End	E-Value	Type
acidPPc	53	194	7.83e-21	SMART
transmembrane domain	212	234	N/A	INTRINSIC
transmembrane domain	254	273	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112317
AA Change: Q51*

SMART Domains

Protein: ENSMUSP00000107936
Gene: ENSMUSG00000005232
AA Change: Q51*

Domain	Start	End	E-Value	Type
SCOP:d1d2ta_	6	126	5e-13	SMART
Blast:acidPPc	53	147	1e-65	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an enzyme that belongs to the glucose-6-phosphatase catalytic subunit family. Members of this family catalyze the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, to release glucose into the bloodstream. The family member encoded by this gene is found specifically in pancreatic islets but has not been shown to have phosphotransferase or phosphatase activity exhibited by a similar liver enzyme. The non-obese diabetic (NOD) mouse is a model for human type 1 diabetes, an autoimmune disease in which T lymphocytes attack and destroy insulin-producing pancreatic beta cells. In NOD mice, the protein encoded by this gene is a major target of cell-mediated autoimmunity. Variations in the human and mouse genes are associated with lower fasting plasma glucose levels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a disruption of this gene show a significant drop in fasting blood glucose. Females also show a significant drop in plasma triacylglycerol. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	T	A	6: 133,294,277	S95T	probably benign	Het
9530053A07Rik	A	T	7: 28,139,965	D401V	probably damaging	Het
Abca8a	A	G	11: 110,054,587	F1070L	probably benign	Het
Acsl3	G	C	1: 78,688,236		probably null	Het
Adarb2	T	A	13: 8,752,608	S640T	possibly damaging	Het
Adgre5	T	C	8: 83,729,396	D257G	probably benign	Het
Adora2b	A	T	11: 62,265,339	I205F	possibly damaging	Het
Asb14	A	G	14: 26,912,352	M505V	probably benign	Het
Atrnl1	T	C	19: 57,701,988	V876A	probably benign	Het
AU040320	A	G	4: 126,835,529	N495D	possibly damaging	Het
BC005561	T	C	5: 104,519,960	F783L	possibly damaging	Het
Bcam	A	T	7: 19,760,388	V361E	probably benign	Het
Cbwd1	T	C	19: 24,940,794	D204G	probably damaging	Het
Ccdc7a	T	A	8: 128,993,052	E247V	probably damaging	Het
Cd84	T	A	1: 171,840,659	M1K	probably null	Het
Cfap43	C	T	19: 47,897,993	R61H	possibly damaging	Het
Clec4a1	A	G	6: 122,932,150	D159G	possibly damaging	Het
Ctcfl	C	T	2: 173,117,192	R247Q	probably benign	Het
Ctdnep1	G	A	11: 69,990,009	R236Q	probably damaging	Het
Cwf19l2	A	T	9: 3,450,066	H589L	probably benign	Het
Cyp2u1	G	T	3: 131,303,027	A34E	probably benign	Het
Cyp4x1	A	G	4: 115,120,194	S281P	possibly damaging	Het
Dag1	T	C	9: 108,208,848	T365A	probably benign	Het
Dhx57	A	T	17: 80,265,074		probably null	Het
Dnajb1	T	G	8: 83,608,377	S16A	probably benign	Het
Dsc2	A	T	18: 20,048,315	L145Q	probably benign	Het
Dsc2	G	C	18: 20,048,316	L145V	probably benign	Het
Eefsec	T	C	6: 88,376,220	T156A	possibly damaging	Het
Eif6	T	A	2: 155,823,232	D169V	probably benign	Het
Ell3	C	A	2: 121,442,520	G3V	possibly damaging	Het
Eprs	A	T	1: 185,397,161	H615L	probably benign	Het
Fbxw10	A	G	11: 62,873,397	Y630C	unknown	Het
Glt8d1	C	T	14: 31,001,978		probably benign	Het
Gm16486	A	G	8: 70,717,451	T1397A	possibly damaging	Het
Gpr4	T	C	7: 19,222,710	Y186H	probably damaging	Het
Grhpr	T	C	4: 44,981,494		probably benign	Het
Gsdma3	A	G	11: 98,635,215	H264R	probably damaging	Het
Hcfc2	A	G	10: 82,739,179	Y224C	probably benign	Het
Helz2	A	G	2: 181,230,355	F2608S	possibly damaging	Het
Herc2	C	T	7: 56,188,664	T3313M	probably damaging	Het
Hmgcl	A	T	4: 135,960,083	H223L	probably benign	Het
Igf2r	A	G	17: 12,739,369	V139A	possibly damaging	Het
Kif5a	T	A	10: 127,236,740	T727S	probably benign	Het
Kifc1	G	A	17: 33,883,569	R357W	probably damaging	Het
Krt81	T	A	15: 101,463,514	S62C	probably damaging	Het
Lgi2	T	C	5: 52,538,531	N362S	probably benign	Het
Lig1	G	T	7: 13,296,231	R378L	possibly damaging	Het
Map3k13	C	T	16: 21,921,686	R588C	probably damaging	Het
Mov10l1	T	A	15: 89,024,801	F1008L	probably damaging	Het
Nr4a2	A	G	2: 57,112,321	V40A	probably benign	Het
Nrde2	A	T	12: 100,144,140	C206S	possibly damaging	Het
Olfr1316	C	T	2: 112,130,041	V257I	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Pcdhb12	A	G	18: 37,437,036	T412A	probably damaging	Het
Plekhh2	T	A	17: 84,583,524	Y839*	probably null	Het
Pnpla6	T	A	8: 3,522,660	F316I	probably benign	Het
Prcp	C	T	7: 92,901,298	T101M	probably damaging	Het
Prex2	G	T	1: 11,181,959	R1076L	probably benign	Het
Prpf40b	T	C	15: 99,308,343		probably null	Het
Psd3	T	G	8: 68,120,916	K204N	possibly damaging	Het
Ptpro	C	A	6: 137,414,286	C801*	probably null	Het
Ptprt	A	G	2: 161,575,787	V923A	probably damaging	Het
Ptprz1	T	A	6: 23,000,384	D824E	probably benign	Het
Rasgrf1	A	G	9: 89,981,727	D582G	probably benign	Het
Rfc2	T	C	5: 134,593,216	L183P	probably damaging	Het
Rnf114	T	C	2: 167,512,518	V173A	probably damaging	Het
Scn3a	T	A	2: 65,508,650	I562F	probably benign	Het
Setmar	T	C	6: 108,076,127	I194T	probably damaging	Het
Sptbn2	C	G	19: 4,749,012	R2037G	probably benign	Het
Sptlc3	G	T	2: 139,631,368	M512I	possibly damaging	Het
Svep1	C	A	4: 58,049,239	A3423S	probably benign	Het
Sycp1	T	C	3: 102,895,962	T511A	probably benign	Het
Tada1	C	T	1: 166,389,942	P216L	probably damaging	Het
Tas2r117	T	A	6: 132,803,175	M92K	probably benign	Het
Thsd1	T	C	8: 22,258,721	L536P	probably damaging	Het
Timp2	T	G	11: 118,317,529		probably null	Het
Ubqln3	T	A	7: 104,141,076	L602F	probably damaging	Het
Vmn2r59	A	G	7: 42,012,019	F791L	probably benign	Het
Wbp4	A	G	14: 79,477,040		probably null	Het

Other mutations in G6pc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:G6pc2	APN	2	69222967	missense	probably damaging	1.00
IGL02031:G6pc2	APN	2	69222991	missense	probably benign	0.36
IGL02504:G6pc2	APN	2	69226595	missense	probably damaging	0.99
IGL02674:G6pc2	APN	2	69226566	critical splice acceptor site	probably null
IGL03339:G6pc2	APN	2	69220895	splice site	probably benign
R0011:G6pc2	UTSW	2	69226565	splice site	probably benign
R1113:G6pc2	UTSW	2	69220226	missense	probably damaging	1.00
R1308:G6pc2	UTSW	2	69220226	missense	probably damaging	1.00
R1417:G6pc2	UTSW	2	69222968	missense	probably damaging	1.00
R1441:G6pc2	UTSW	2	69220854	missense	probably damaging	0.97
R1658:G6pc2	UTSW	2	69227069	missense	probably damaging	1.00
R1762:G6pc2	UTSW	2	69220842	missense	possibly damaging	0.53
R1768:G6pc2	UTSW	2	69222977	missense	probably damaging	1.00
R3161:G6pc2	UTSW	2	69220112	missense	probably damaging	0.98
R5487:G6pc2	UTSW	2	69226577	missense	probably damaging	0.99
R5623:G6pc2	UTSW	2	69226583	missense	probably damaging	1.00
R5686:G6pc2	UTSW	2	69220784	missense	probably benign	0.03
R7493:G6pc2	UTSW	2	69223000	missense	probably benign	0.00
X0040:G6pc2	UTSW	2	69223010	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GTCACGTAATGGCTCAGTGC -3'
(R):5'- TTGGAAGATTTCTGTGTCGAAGTAC -3'

Sequencing Primer
(F):5'- CGTAATGGCTCAGTGCATCAC -3'
(R):5'- TGTGTCGAAGTACATGCACC -3'

Posted On

2019-11-12