Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:G6pc2'

501283

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

043319-MU

Accession Numbers

Essential gene?

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

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69041417-69058185 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69051128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 74 (I74L)

Ref Sequence

ENSEMBL: ENSMUSP00000107936 (fasta)

Gene Model

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

AlphaFold

Q9Z186

Predicted Effect

probably benign
Transcript: ENSMUST00000005364
AA Change: I74L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000005364
Gene: ENSMUSG00000005232
AA Change: I74L

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 benign
Transcript: ENSMUST00000112317
AA Change: I74L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107936
Gene: ENSMUSG00000005232
AA Change: I74L

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

0.1283

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,451,433 (GRCm39)	E839G	possibly damaging	Het
Adgrf3	T	A	5: 30,402,304 (GRCm39)	T575S	probably damaging	Het
Akap9	T	A	5: 4,021,926 (GRCm39)	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,610,833 (GRCm39)	F926L	probably damaging	Het
BC035947	G	T	1: 78,474,567 (GRCm39)	T655K	probably benign	Het
Bcas1	T	C	2: 170,248,730 (GRCm39)	T64A	probably benign	Het
Bltp1	T	A	3: 36,971,809 (GRCm39)	F514Y	probably benign	Het
Brca2	A	G	5: 150,464,369 (GRCm39)	K1378E	probably benign	Het
Card6	A	T	15: 5,130,435 (GRCm39)	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,142,871 (GRCm39)	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,610,527 (GRCm39)	S212P	probably damaging	Het
Cdh8	T	C	8: 99,759,854 (GRCm39)	I632V	probably benign	Het
Col25a1	A	G	3: 130,357,803 (GRCm39)	E477G	probably damaging	Het
Cpne5	A	T	17: 29,402,991 (GRCm39)	C215S	possibly damaging	Het
Crim1	T	A	17: 78,681,512 (GRCm39)	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,582,838 (GRCm39)	N340K	probably benign	Het
Eif4e2	G	A	1: 87,153,960 (GRCm39)		probably null	Het
Ephb6	G	T	6: 41,596,638 (GRCm39)	R895L	possibly damaging	Het
Esrrg	T	A	1: 187,882,395 (GRCm39)	H217Q	probably benign	Het
Fgl1	T	A	8: 41,653,594 (GRCm39)	K100*	probably null	Het
Flt4	T	C	11: 49,521,430 (GRCm39)	V450A	probably benign	Het
Gabrr1	T	C	4: 33,161,684 (GRCm39)	M336T	probably damaging	Het
Gli1	T	A	10: 127,173,305 (GRCm39)	T118S	probably benign	Het
Gm5435	A	T	12: 82,542,800 (GRCm39)		noncoding transcript	Het
Got1l1	A	G	8: 27,688,087 (GRCm39)	L314P	probably damaging	Het
Hk3	T	A	13: 55,154,626 (GRCm39)	I740F	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,235,475 (GRCm39)	T508A	probably damaging	Het
Il16	T	A	7: 83,297,936 (GRCm39)	N431I	probably benign	Het
Lax1	G	A	1: 133,607,914 (GRCm39)	P276S	probably damaging	Het
Lrp2	A	T	2: 69,341,405 (GRCm39)	V925E	possibly damaging	Het
Lrp3	T	A	7: 34,902,910 (GRCm39)	T479S	possibly damaging	Het
Metrn	G	A	17: 26,014,191 (GRCm39)	R212C	probably damaging	Het
Mlip	A	C	9: 77,254,975 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,641,697 (GRCm39)	T175I	probably damaging	Het
N6amt1	A	T	16: 87,151,223 (GRCm39)	D28V	probably damaging	Het
Or1e21	A	T	11: 73,344,677 (GRCm39)	Y120*	probably null	Het
Or4f4b	G	A	2: 111,314,488 (GRCm39)	G238R	probably damaging	Het
Or5p52	A	G	7: 107,502,119 (GRCm39)	H65R	probably damaging	Het
Or5p66	G	T	7: 107,885,949 (GRCm39)	A128E	probably damaging	Het
Or6d15	T	C	6: 116,559,890 (GRCm39)	T6A	probably benign	Het
Or8b12i	T	A	9: 20,082,265 (GRCm39)	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,770,433 (GRCm39)	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,128,389 (GRCm39)	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,558,290 (GRCm39)	L323P	probably damaging	Het
Psg21	G	T	7: 18,386,183 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,573 (GRCm39)	V664A	probably benign	Het
Sco2	G	A	15: 89,256,175 (GRCm39)	R160*	probably null	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,569,392 (GRCm39)	M329K	probably benign	Het
Slco1a5	G	A	6: 142,182,033 (GRCm39)	P564S	probably damaging	Het
Stk38	A	G	17: 29,201,103 (GRCm39)	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826 (GRCm39)	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 83,970,428 (GRCm39)	T441M	possibly damaging	Het
Tg	T	A	15: 66,560,738 (GRCm39)	N1033K	probably benign	Het
Thoc3	A	T	13: 54,615,686 (GRCm39)	I126N	probably damaging	Het
Tnc	T	C	4: 63,925,967 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,927,032 (GRCm39)	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,038,787 (GRCm39)	V100E	probably damaging	Het
Usp43	G	A	11: 67,812,742 (GRCm39)		probably benign	Het
Vmn2r90	A	T	17: 17,933,712 (GRCm39)	Y424F	probably benign	Het
Vps33a	C	T	5: 123,685,064 (GRCm39)		probably null	Het
Xirp2	A	T	2: 67,312,642 (GRCm39)	K37I	probably damaging	Het
Zfp106	A	T	2: 120,363,988 (GRCm39)		probably null	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	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
R5623:G6pc2	UTSW	2	69,056,927 (GRCm39)	missense	probably damaging	1.00
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'- TGCTCTTTCATGATGAGAGACCAG -3'
(R):5'- ACTTTAAGCATCCTTACCCATGAC -3'

Sequencing Primer
(F):5'- CTTTCATGATGAGAGACCAGGACTC -3'
(R):5'- CCATGACATTTACCTTGAGATCCTAG -3'

Posted On

2017-12-01