Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Gckr'

735306

Institutional Source

Beutler Lab

Gene Symbol

Gckr

Ensembl Gene

ENSMUSG00000059434

Gene Name

glucokinase regulatory protein

Synonyms

GKRP

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31297443-31327314 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31300024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 127 (G127D)

Ref Sequence

ENSEMBL: ENSMUSP00000072084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041266] [ENSMUST00000072228] [ENSMUST00000172435] [ENSMUST00000201166] [ENSMUST00000201417] [ENSMUST00000201675] [ENSMUST00000202615]

AlphaFold

Q91X44

Predicted Effect

probably benign
Transcript: ENSMUST00000041266

SMART Domains

Protein: ENSMUSP00000047185
Gene: ENSMUSG00000038552

Domain	Start	End	E-Value	Type
FN3	43	123	4.35e-11	SMART
transmembrane domain	161	183	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000072228
AA Change: G127D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
AA Change: G127D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172435

SMART Domains

Protein: ENSMUSP00000127404
Gene: ENSMUSG00000038552

Domain	Start	End	E-Value	Type
FN3	43	123	4.35e-11	SMART
transmembrane domain	161	183	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201166
AA Change: G127D

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

SMART Domains

Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
AA Change: G127D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201417

SMART Domains

Protein: ENSMUSP00000144142
Gene: ENSMUSG00000038552

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
FN3	43	118	9.4e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201675
AA Change: G104D

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

SMART Domains

Protein: ENSMUSP00000144568
Gene: ENSMUSG00000059434
AA Change: G104D

Domain	Start	End	E-Value	Type
PDB:4LC9\|A	1	120	7e-64	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000202615

SMART Domains

Protein: ENSMUSP00000144195
Gene: ENSMUSG00000038552

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
FN3	43	123	2.2e-13	SMART
transmembrane domain	161	183	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,703,903	S52P	unknown	Het
Ank2	A	G	3: 126,959,077	M330T	possibly damaging	Het
Ankar	C	T	1: 72,659,181	V905I	possibly damaging	Het
Anln	G	T	9: 22,372,222	D438E	probably damaging	Het
C1ql3	T	C	2: 13,004,389	N215S	probably damaging	Het
Ccdc110	A	G	8: 45,942,589	S506G	probably benign	Het
Ccdc87	A	G	19: 4,841,147	T556A	probably benign	Het
Cma1	A	T	14: 55,941,729	N236K	probably benign	Het
Csmd2	T	C	4: 128,369,193	F724S		Het
Cts8	T	C	13: 61,253,322	K130R	possibly damaging	Het
Daam1	A	T	12: 71,944,148	T179S	unknown	Het
Fancd2os	T	C	6: 113,597,977	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,504,854	I168N	probably damaging	Het
Gm11444	G	A	11: 85,846,873	Q164*	probably null	Het
Gm28042	T	A	2: 120,038,503	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,192,971	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,668,903	H198Q	possibly damaging	Het
Hps6	T	A	19: 46,005,508	L628*	probably null	Het
Igha	G	A	12: 113,259,139	H221Y		Het
Ighm	A	G	12: 113,419,015	S453P		Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Lfng	A	G	5: 140,607,773	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,200	A172T	probably benign	Het
Lrrc56	A	G	7: 141,207,607	T386A	probably benign	Het
Mapkbp1	A	T	2: 120,010,775	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mrto4	T	A	4: 139,349,070	N70I	probably damaging	Het
Mxra8	C	T	4: 155,839,825		probably benign	Het
Myo1h	A	G	5: 114,345,936	E548G		Het
Ncan	C	T	8: 70,108,101	D739N	probably benign	Het
Olfr315	T	C	11: 58,778,769	V214A	probably benign	Het
Oxgr1	T	C	14: 120,022,151	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,035	V86E	probably damaging	Het
Pclo	G	A	5: 14,712,615	V416M		Het
Phf3	G	T	1: 30,830,791	T392K	probably benign	Het
Pkhd1	A	T	1: 20,566,849	V379E	probably damaging	Het
Ppfia3	T	C	7: 45,341,115	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,422,217	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,782,670	D384E	probably benign	Het
Rergl	A	G	6: 139,500,763	F23L	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Sidt2	A	G	9: 45,943,614	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,141,132	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,272,075	D474V	probably damaging	Het
Tenm4	G	A	7: 96,553,478	G100D	probably damaging	Het
Tmem258	G	A	19: 10,207,273	V75I	probably benign	Het
Tmem91	G	T	7: 25,670,563	H95N	probably damaging	Het
Trps1	T	C	15: 50,846,694	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,943,717	M209K	probably benign	Het
Tspan17	C	A	13: 54,793,279	Q124K	probably benign	Het
Uts2b	G	A	16: 27,360,942	R105*	probably null	Het
Vmn2r110	T	A	17: 20,583,468	T282S	probably benign	Het
Xdh	T	A	17: 73,922,460	M333L	probably benign	Het
Zbtb3	A	G	19: 8,804,469	E482G	probably 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
IGL02357: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
R8925:Gckr	UTSW	5	31299559	missense	probably damaging	0.98
R8927:Gckr	UTSW	5	31299559	missense	probably damaging	0.98
R9045:Gckr	UTSW	5	31300009	missense	possibly damaging	0.94
R9628:Gckr	UTSW	5	31300590	missense	probably damaging	1.00
R9783:Gckr	UTSW	5	31309055	missense	probably benign
Z1176:Gckr	UTSW	5	31300831	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCTTTAAGTGGCGGACTCC -3'
(R):5'- TGTTGGAGACTAAGGCAGGTTC -3'

Sequencing Primer
(F):5'- CTTTAAGTGGCGGACTCCAAACAAG -3'
(R):5'- TGTAATGGGATCCAATGCCC -3'

Posted On

2022-11-14