Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02357:Gckr'

290574

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gckr

Ensembl Gene

ENSMUSG00000059434

Gene Name

glucokinase regulatory protein

Synonyms

GKRP

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02357

Quality Score

Status

Chromosome

Chromosomal Location

31297443-31327314 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31307790 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 368 (H368N)

Ref Sequence

ENSEMBL: ENSMUSP00000072084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072228] [ENSMUST00000201166]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072228
AA Change: H368N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
AA Change: H368N

Domain	Start	End	E-Value	Type
PDB:4LC9\|A	1	584	N/A	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201166
AA Change: H368N

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
AA Change: H368N

Domain	Start	End	E-Value	Type
PDB:4LC9\|A	1	620	N/A	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202909

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced glucokinase protein levels and activity in the liver and altered glucose homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,613,319	I44T	possibly damaging	Het
Abhd8	A	G	8: 71,461,477	V169A	probably benign	Het
Adamts16	T	A	13: 70,738,585	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,270,855	C6007F	probably benign	Het
Ak8	A	T	2: 28,700,213	H8L	probably benign	Het
Apol7b	A	G	15: 77,423,632	V221A	probably benign	Het
BC005624	G	A	2: 30,973,767	P235S	probably benign	Het
Casp9	C	A	4: 141,805,472	D226E	probably benign	Het
Cd96	A	G	16: 46,069,776		probably benign	Het
Celf1	A	T	2: 90,998,588	K27I	probably damaging	Het
Cfap65	A	T	1: 74,928,348	C190*	probably null	Het
Cib2	A	T	9: 54,549,886	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,079,342	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,162,359	M2104V	possibly damaging	Het
Emb	A	G	13: 117,249,471		probably benign	Het
Fbn2	G	T	18: 58,103,995	N645K	possibly damaging	Het
Fes	T	C	7: 80,383,830		probably null	Het
Flnc	A	T	6: 29,438,493	K129*	probably null	Het
Gm5145	A	T	17: 20,570,440	I27F	probably damaging	Het
Hecw1	A	G	13: 14,248,338		probably null	Het
Hook2	C	T	8: 84,994,985	Q291*	probably null	Het
Jakmip2	T	C	18: 43,547,127	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,351,269	I53V	probably benign	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,325,721	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,912,000	N338S	probably benign	Het
Mrpl23	T	A	7: 142,536,065		probably benign	Het
Myo18a	A	G	11: 77,850,247	N1442S	probably benign	Het
Ngdn	T	A	14: 55,021,936	V179E	probably damaging	Het
Nxn	A	G	11: 76,274,654		probably benign	Het
Olfr1349	T	A	7: 6,515,226	M68L	probably damaging	Het
Olfr1535	A	G	13: 21,555,602	L140P	probably damaging	Het
Osmr	A	T	15: 6,828,663	N441K	probably benign	Het
Plcb3	A	C	19: 6,958,178	L789R	probably damaging	Het
Plek	C	T	11: 16,981,846	R335H	probably damaging	Het
Pmp22	G	T	11: 63,158,308	V126F	probably benign	Het
Prom1	A	G	5: 44,029,604		probably benign	Het
Prss1	C	A	6: 41,463,205	Q159K	probably damaging	Het
Psd3	G	T	8: 67,963,869	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351	V1152G	possibly damaging	Het
Slc16a4	A	G	3: 107,303,099	I362V	probably benign	Het
Slc22a22	A	G	15: 57,247,448	V461A	probably benign	Het
Slc35e4	C	T	11: 3,912,640	R183Q	probably benign	Het
Spen	T	C	4: 141,477,579	T1246A	unknown	Het
Syt16	T	C	12: 74,266,842	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,652,428	V79A	possibly damaging	Het
Tpgs1	A	G	10: 79,675,759	D245G	probably benign	Het
Ttn	A	G	2: 76,709,619	V34341A	probably benign	Het
Wwox	T	C	8: 114,712,142	V316A	possibly damaging	Het

Other mutations in Gckr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Gckr	APN	5	31299576	missense	probably damaging	1.00
IGL00325:Gckr	APN	5	31307767	missense	possibly damaging	0.92
IGL00958:Gckr	APN	5	31298785	splice site	probably null
IGL01102:Gckr	APN	5	31309037	missense	probably damaging	0.97
IGL01380:Gckr	APN	5	31299633	unclassified	probably benign
IGL01780:Gckr	APN	5	31307790	missense	possibly damaging	0.82
IGL02110:Gckr	APN	5	31298738	missense	possibly damaging	0.94
IGL02187:Gckr	APN	5	31307424	splice site	probably benign
IGL02350:Gckr	APN	5	31307790	missense	possibly damaging	0.82
IGL02600:Gckr	APN	5	31305030	missense	probably benign	0.01
IGL02616:Gckr	APN	5	31327075	missense	probably benign	0.07
IGL02803:Gckr	APN	5	31298204	missense	probably damaging	1.00
R0004:Gckr	UTSW	5	31297589	unclassified	probably benign
R0079:Gckr	UTSW	5	31306539	missense	probably benign	0.01
R0165:Gckr	UTSW	5	31326948	missense	possibly damaging	0.90
R0853:Gckr	UTSW	5	31305048	missense	probably damaging	1.00
R0964:Gckr	UTSW	5	31326915	splice site	probably benign
R2174:Gckr	UTSW	5	31327009	missense	possibly damaging	0.95
R2212:Gckr	UTSW	5	31300867	critical splice donor site	probably null
R2892:Gckr	UTSW	5	31326472	missense	probably benign	0.00
R3412:Gckr	UTSW	5	31300867	critical splice donor site	probably null
R3413:Gckr	UTSW	5	31300867	critical splice donor site	probably null
R3764:Gckr	UTSW	5	31326498	splice site	probably benign
R4608:Gckr	UTSW	5	31307797	missense	probably damaging	0.99
R4757:Gckr	UTSW	5	31307384	missense	possibly damaging	0.49
R4814:Gckr	UTSW	5	31298300	nonsense	probably null
R4953:Gckr	UTSW	5	31308264	missense	probably damaging	1.00
R5906:Gckr	UTSW	5	31306578	missense	probably damaging	1.00
R7030:Gckr	UTSW	5	31302210	missense	possibly damaging	0.89
R7665:Gckr	UTSW	5	31297555
R7684:Gckr	UTSW	5	31307797	missense	probably damaging	1.00
R8432:Gckr	UTSW	5	31309103	missense	possibly damaging	0.82
Z1176:Gckr	UTSW	5	31300831	missense	probably damaging	0.99

Posted On

2015-04-16