Mutagenetix > Incidental Mutation

Incidental Mutation 'R5623:G6pc2'

441669

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

043162-MU

Accession Numbers

Essential gene?

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

Stock #

R5623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69041417-69058185 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69056927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 191 (E191G)

Ref Sequence

ENSEMBL: ENSMUSP00000005364 (fasta)

Gene Model

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

AlphaFold

Q9Z186

Predicted Effect

probably damaging
Transcript: ENSMUST00000005364
AA Change: E191G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005364
Gene: ENSMUSG00000005232
AA Change: E191G

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

silent
Transcript: ENSMUST00000112317

SMART Domains

Protein: ENSMUSP00000107936
Gene: ENSMUSG00000005232

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151953

Meta Mutation Damage Score

0.2299

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (65/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b1	T	G	18: 64,679,165 (GRCm39)	Q772P	possibly damaging	Het
B3gnt2	C	G	11: 22,787,018 (GRCm39)	A57P	probably damaging	Het
Birc6	T	G	17: 74,835,651 (GRCm39)	D63E	probably damaging	Het
Ccdc13	T	C	9: 121,662,799 (GRCm39)	E72G	probably damaging	Het
Cfap221	C	T	1: 119,881,898 (GRCm39)	A297T	probably benign	Het
Chd1	T	A	17: 15,975,194 (GRCm39)	N1081K	probably damaging	Het
Chrm3	C	A	13: 9,927,423 (GRCm39)	V538L	possibly damaging	Het
Clec16a	T	A	16: 10,428,985 (GRCm39)	N37K	probably benign	Het
Cnksr3	T	A	10: 7,070,548 (GRCm39)	I229F	probably damaging	Het
Cspg4b	T	C	13: 113,483,168 (GRCm39)	I1590T	possibly damaging	Het
Dchs1	T	C	7: 105,421,976 (GRCm39)	E148G	probably damaging	Het
Diaph1	A	T	18: 38,029,146 (GRCm39)		probably benign	Het
Dis3l	A	G	9: 64,214,885 (GRCm39)	F895L	possibly damaging	Het
Dnah1	G	T	14: 31,007,980 (GRCm39)	D2142E	possibly damaging	Het
Dst	T	C	1: 34,229,214 (GRCm39)	V1944A	possibly damaging	Het
Eif4a2	C	T	16: 22,928,969 (GRCm39)		probably benign	Het
Ephb6	T	A	6: 41,593,415 (GRCm39)	M487K	probably benign	Het
Fgf18	T	G	11: 33,084,272 (GRCm39)	T61P	probably damaging	Het
Gm10717	C	T	9: 3,026,318 (GRCm39)	S55L	probably benign	Het
Gm5414	A	G	15: 101,534,246 (GRCm39)	F286S	probably damaging	Het
Gpcpd1	G	T	2: 132,376,637 (GRCm39)	A553E	probably damaging	Het
Gpr153	A	G	4: 152,366,398 (GRCm39)	D321G	possibly damaging	Het
Hecw2	T	A	1: 53,871,782 (GRCm39)	Q1388L	probably null	Het
Ighv14-3	A	C	12: 114,023,710 (GRCm39)	S36A	probably damaging	Het
Inpp5j	C	A	11: 3,444,766 (GRCm39)	G969V	probably damaging	Het
Kat5	G	A	19: 5,657,590 (GRCm39)	R307W	probably damaging	Het
Klk1b21	A	G	7: 43,754,989 (GRCm39)	S95G	probably damaging	Het
Mdm1	G	A	10: 117,986,694 (GRCm39)	V171I	possibly damaging	Het
Nfu1	TCGC	T	6: 86,993,188 (GRCm39)		probably benign	Het
Or5k8	C	T	16: 58,644,706 (GRCm39)	R122H	probably benign	Het
Or6c206	G	A	10: 129,096,901 (GRCm39)	V24M	probably benign	Het
Phkb	T	A	8: 86,569,677 (GRCm39)		probably benign	Het
Pkd1l3	A	T	8: 110,350,351 (GRCm39)	T399S	possibly damaging	Het
Prr14l	A	T	5: 33,001,852 (GRCm39)		probably benign	Het
Psg21	A	C	7: 18,388,939 (GRCm39)	L51R	probably damaging	Het
Ptprg	T	A	14: 12,153,857 (GRCm38)	I526N	probably damaging	Het
Rab1a	T	C	11: 20,151,626 (GRCm39)		probably benign	Het
Rims2	A	T	15: 39,342,011 (GRCm39)	Q620L	probably damaging	Het
Rnf215	T	G	11: 4,085,453 (GRCm39)	S58A	probably benign	Het
Scaper	A	C	9: 55,771,791 (GRCm39)	V375G	probably benign	Het
Sgk3	A	T	1: 9,872,520 (GRCm39)		probably benign	Het
Skic2	T	C	17: 35,066,408 (GRCm39)	K192E	probably benign	Het
Slc34a3	T	A	2: 25,123,312 (GRCm39)		probably null	Het
Sspn	T	A	6: 145,906,952 (GRCm39)	C52S	probably damaging	Het
Strip1	T	C	3: 107,534,142 (GRCm39)	E164G	possibly damaging	Het
Sult5a1	A	C	8: 123,884,181 (GRCm39)	S47A	probably damaging	Het
Svep1	T	C	4: 58,091,964 (GRCm39)	D1557G	possibly damaging	Het
Tdrd6	T	C	17: 43,940,224 (GRCm39)	I275V	probably damaging	Het
Thada	C	T	17: 84,499,411 (GRCm39)	V1929I	probably benign	Het
Tmem132b	G	A	5: 125,700,416 (GRCm39)	R318Q	probably damaging	Het
Tmem176b	T	G	6: 48,811,004 (GRCm39)	I259L	probably benign	Het
Tmppe	C	A	9: 114,234,964 (GRCm39)	P421Q	possibly damaging	Het
Tmprss11e	G	A	5: 86,857,315 (GRCm39)	Q333*	probably null	Het
Tpcn2	T	A	7: 144,821,071 (GRCm39)	R328W	possibly damaging	Het
Trem1	C	T	17: 48,544,083 (GRCm39)	T36I	probably damaging	Het
Trpm2	C	A	10: 77,767,973 (GRCm39)	R842L	probably damaging	Het
Zfp319	A	G	8: 96,052,199 (GRCm39)		probably benign	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
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
R7733:G6pc2	UTSW	2	69,050,527 (GRCm39)	nonsense	probably null
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'- GATTTATCCTTCTTGGCCAGTG -3'
(R):5'- AAGGCGTGCTGTCAATGTGG -3'

Sequencing Primer
(F):5'- CCAGTGTAGGTAGTTGAAAGACTATG -3'
(R):5'- GCTGTCAATGTGGATCCAGTC -3'

Posted On

2016-11-08