Mutagenetix > Incidental Mutation

Incidental Mutation 'R7733:G6pc2'

595960

Institutional Source

Beutler Lab

Gene Symbol

G6pc2

Ensembl Gene

ENSMUSG00000005232

Gene Name

glucose-6-phosphatase, catalytic, 2

Synonyms

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

MMRRC Submission

045789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7733 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69041417-69058185 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 69050527 bp (GRCm39)

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]

AlphaFold

Q9Z186

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

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

Validation Efficiency

100% (83/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	T	A	6: 133,271,240 (GRCm39)	S95T	probably benign	Het
Abca8a	A	G	11: 109,945,413 (GRCm39)	F1070L	probably benign	Het
Acsl3	G	C	1: 78,665,953 (GRCm39)		probably null	Het
Adarb2	T	A	13: 8,802,644 (GRCm39)	S640T	possibly damaging	Het
Adgre5	T	C	8: 84,456,025 (GRCm39)	D257G	probably benign	Het
Adora2b	A	T	11: 62,156,165 (GRCm39)	I205F	possibly damaging	Het
Asb14	A	G	14: 26,634,309 (GRCm39)	M505V	probably benign	Het
Atrnl1	T	C	19: 57,690,420 (GRCm39)	V876A	probably benign	Het
AU040320	A	G	4: 126,729,322 (GRCm39)	N495D	possibly damaging	Het
Bcam	A	T	7: 19,494,313 (GRCm39)	V361E	probably benign	Het
Ccdc7a	T	A	8: 129,719,533 (GRCm39)	E247V	probably damaging	Het
Cd84	T	A	1: 171,668,226 (GRCm39)	M1K	probably null	Het
Cfap43	C	T	19: 47,886,432 (GRCm39)	R61H	possibly damaging	Het
Clec4a1	A	G	6: 122,909,109 (GRCm39)	D159G	possibly damaging	Het
Ctcfl	C	T	2: 172,958,985 (GRCm39)	R247Q	probably benign	Het
Ctdnep1	G	A	11: 69,880,835 (GRCm39)	R236Q	probably damaging	Het
Cwf19l2	A	T	9: 3,450,066 (GRCm39)	H589L	probably benign	Het
Cyp2u1	G	T	3: 131,096,676 (GRCm39)	A34E	probably benign	Het
Cyp4x1	A	G	4: 114,977,391 (GRCm39)	S281P	possibly damaging	Het
Dag1	T	C	9: 108,086,047 (GRCm39)	T365A	probably benign	Het
Dhx57	A	T	17: 80,572,503 (GRCm39)		probably null	Het
Dnajb1	T	G	8: 84,335,006 (GRCm39)	S16A	probably benign	Het
Dsc2	A	T	18: 20,181,372 (GRCm39)	L145Q	probably benign	Het
Dsc2	G	C	18: 20,181,373 (GRCm39)	L145V	probably benign	Het
Eefsec	T	C	6: 88,353,202 (GRCm39)	T156A	possibly damaging	Het
Eif6	T	A	2: 155,665,152 (GRCm39)	D169V	probably benign	Het
Ell3	C	A	2: 121,273,001 (GRCm39)	G3V	possibly damaging	Het
Eprs1	A	T	1: 185,129,358 (GRCm39)	H615L	probably benign	Het
Fbxw10	A	G	11: 62,764,223 (GRCm39)	Y630C	unknown	Het
Fcgbpl1	A	T	7: 27,839,390 (GRCm39)	D401V	probably damaging	Het
Glt8d1	C	T	14: 30,723,935 (GRCm39)		probably benign	Het
Gpr4	T	C	7: 18,956,635 (GRCm39)	Y186H	probably damaging	Het
Grhpr	T	C	4: 44,981,494 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,526,041 (GRCm39)	H264R	probably damaging	Het
Hcfc2	A	G	10: 82,575,013 (GRCm39)	Y224C	probably benign	Het
Helz2	A	G	2: 180,872,148 (GRCm39)	F2608S	possibly damaging	Het
Herc2	C	T	7: 55,838,412 (GRCm39)	T3313M	probably damaging	Het
Hmgcl	A	T	4: 135,687,394 (GRCm39)	H223L	probably benign	Het
Igf2r	A	G	17: 12,958,256 (GRCm39)	V139A	possibly damaging	Het
Iqcn	A	G	8: 71,170,100 (GRCm39)	T1397A	possibly damaging	Het
Kif5a	T	A	10: 127,072,609 (GRCm39)	T727S	probably benign	Het
Kifc1	G	A	17: 34,102,543 (GRCm39)	R357W	probably damaging	Het
Krt81	T	A	15: 101,361,395 (GRCm39)	S62C	probably damaging	Het
Lgi2	T	C	5: 52,695,873 (GRCm39)	N362S	probably benign	Het
Lig1	G	T	7: 13,030,157 (GRCm39)	R378L	possibly damaging	Het
Map3k13	C	T	16: 21,740,436 (GRCm39)	R588C	probably damaging	Het
Mov10l1	T	A	15: 88,909,004 (GRCm39)	F1008L	probably damaging	Het
Nr4a2	A	G	2: 57,002,333 (GRCm39)	V40A	probably benign	Het
Nrde2	A	T	12: 100,110,399 (GRCm39)	C206S	possibly damaging	Het
Or4f14d	C	T	2: 111,960,386 (GRCm39)	V257I	probably benign	Het
Parp1	T	C	1: 180,427,777 (GRCm39)		probably null	Het
Pcdhb12	A	G	18: 37,570,089 (GRCm39)	T412A	probably damaging	Het
Plekhh2	T	A	17: 84,890,952 (GRCm39)	Y839*	probably null	Het
Pnpla6	T	A	8: 3,572,660 (GRCm39)	F316I	probably benign	Het
Prcp	C	T	7: 92,550,506 (GRCm39)	T101M	probably damaging	Het
Prex2	G	T	1: 11,252,183 (GRCm39)	R1076L	probably benign	Het
Prpf40b	T	C	15: 99,206,224 (GRCm39)		probably null	Het
Psd3	T	G	8: 68,573,568 (GRCm39)	K204N	possibly damaging	Het
Ptpro	C	A	6: 137,391,284 (GRCm39)	C801*	probably null	Het
Ptprt	A	G	2: 161,417,707 (GRCm39)	V923A	probably damaging	Het
Ptprz1	T	A	6: 23,000,383 (GRCm39)	D824E	probably benign	Het
Rasgrf1	A	G	9: 89,863,780 (GRCm39)	D582G	probably benign	Het
Rfc2	T	C	5: 134,622,070 (GRCm39)	L183P	probably damaging	Het
Rnf114	T	C	2: 167,354,438 (GRCm39)	V173A	probably damaging	Het
Scn3a	T	A	2: 65,338,994 (GRCm39)	I562F	probably benign	Het
Setmar	T	C	6: 108,053,088 (GRCm39)	I194T	probably damaging	Het
Sptb	A	T	12: 76,644,695 (GRCm39)		probably null	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Sptlc3	G	T	2: 139,473,288 (GRCm39)	M512I	possibly damaging	Het
Svep1	C	A	4: 58,049,239 (GRCm39)	A3423S	probably benign	Het
Sycp1	T	C	3: 102,803,278 (GRCm39)	T511A	probably benign	Het
Synm	T	A	7: 67,385,693 (GRCm39)		probably null	Het
Tada1	C	T	1: 166,217,511 (GRCm39)	P216L	probably damaging	Het
Tas2r117	T	A	6: 132,780,138 (GRCm39)	M92K	probably benign	Het
Thoc2l	T	C	5: 104,667,826 (GRCm39)	F783L	possibly damaging	Het
Thsd1	T	C	8: 22,748,737 (GRCm39)	L536P	probably damaging	Het
Timp2	T	G	11: 118,208,355 (GRCm39)		probably null	Het
Trak1	T	A	9: 121,196,291 (GRCm39)	V41D	possibly damaging	Het
Ubqln3	T	A	7: 103,790,283 (GRCm39)	L602F	probably damaging	Het
Vmn2r59	A	G	7: 41,661,443 (GRCm39)	F791L	probably benign	Het
Wbp4	A	G	14: 79,714,480 (GRCm39)		probably null	Het
Zng1	T	C	19: 24,918,158 (GRCm39)	D204G	probably damaging	Het

Other mutations in G6pc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:G6pc2	APN	2	69,053,311 (GRCm39)	missense	probably damaging	1.00
IGL02031:G6pc2	APN	2	69,053,335 (GRCm39)	missense	probably benign	0.36
IGL02504:G6pc2	APN	2	69,056,939 (GRCm39)	missense	probably damaging	0.99
IGL02674:G6pc2	APN	2	69,056,910 (GRCm39)	critical splice acceptor site	probably null
IGL03339:G6pc2	APN	2	69,051,239 (GRCm39)	splice site	probably benign
R0011:G6pc2	UTSW	2	69,056,909 (GRCm39)	splice site	probably benign
R1113:G6pc2	UTSW	2	69,050,570 (GRCm39)	missense	probably damaging	1.00
R1308:G6pc2	UTSW	2	69,050,570 (GRCm39)	missense	probably damaging	1.00
R1417:G6pc2	UTSW	2	69,053,312 (GRCm39)	missense	probably damaging	1.00
R1441:G6pc2	UTSW	2	69,051,198 (GRCm39)	missense	probably damaging	0.97
R1658:G6pc2	UTSW	2	69,057,413 (GRCm39)	missense	probably damaging	1.00
R1762:G6pc2	UTSW	2	69,051,186 (GRCm39)	missense	possibly damaging	0.53
R1768:G6pc2	UTSW	2	69,053,321 (GRCm39)	missense	probably damaging	1.00
R3161:G6pc2	UTSW	2	69,050,456 (GRCm39)	missense	probably damaging	0.98
R5487:G6pc2	UTSW	2	69,056,921 (GRCm39)	missense	probably damaging	0.99
R5623:G6pc2	UTSW	2	69,056,927 (GRCm39)	missense	probably damaging	1.00
R5686:G6pc2	UTSW	2	69,051,128 (GRCm39)	missense	probably benign	0.03
R7493:G6pc2	UTSW	2	69,053,344 (GRCm39)	missense	probably benign	0.00
R8492:G6pc2	UTSW	2	69,050,586 (GRCm39)	missense	probably damaging	1.00
R8534:G6pc2	UTSW	2	69,050,469 (GRCm39)	missense	probably benign	0.00
R8749:G6pc2	UTSW	2	69,057,140 (GRCm39)	missense	probably damaging	1.00
R8797:G6pc2	UTSW	2	69,050,441 (GRCm39)	missense	probably benign	0.03
X0040:G6pc2	UTSW	2	69,053,354 (GRCm39)	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