Mutagenetix > Incidental Mutation

Incidental Mutation 'R3412:Gckr'

ID

267759

Institutional Source

Beutler Lab

Gene Symbol

Gckr

Ensembl Gene

ENSMUSG00000059434

Gene Name

glucokinase regulatory protein

Synonyms

GKRP

MMRRC Submission

040630-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

question?

Stock #

R3412 (G1)

Quality Score

225

Status

Validated

Chromosome

5

Chromosomal Location

31454787-31484658 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 31458211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144202 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000072228

SMART Domains

Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434

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

Predicted Effect

probably null
Transcript: ENSMUST00000072228

SMART Domains

Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434

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

Predicted Effect

probably null
Transcript: ENSMUST00000072228

SMART Domains

Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434

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

Predicted Effect

probably null
Transcript: ENSMUST00000072228

SMART Domains

Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434

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

Predicted Effect

probably null
Transcript: ENSMUST00000072228

SMART Domains

Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434

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

Predicted Effect

probably null
Transcript: ENSMUST00000072228

SMART Domains

Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434

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 null
Transcript: ENSMUST00000201166

SMART Domains

Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434

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

Predicted Effect

probably null
Transcript: ENSMUST00000201166

SMART Domains

Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434

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

Predicted Effect

probably null
Transcript: ENSMUST00000201166

SMART Domains

Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434

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

Predicted Effect

probably null
Transcript: ENSMUST00000201166

SMART Domains

Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434

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

Predicted Effect

probably null
Transcript: ENSMUST00000201166

SMART Domains

Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434

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

Predicted Effect

probably null
Transcript: ENSMUST00000201166

SMART Domains

Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434

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 benign
Transcript: ENSMUST00000201675

SMART Domains

Protein: ENSMUSP00000144568
Gene: ENSMUSG00000059434

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202909

Meta Mutation Damage Score

0.9477

question?

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (40/41)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	T	C	13: 8,802,654 (GRCm39)	F643S	probably damaging	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Arhgef5	A	G	6: 43,250,724 (GRCm39)	I492V	probably benign	Het
Atp8b4	C	A	2: 126,217,677 (GRCm39)	W613L	probably damaging	Het
Ccdc162	T	C	10: 41,415,545 (GRCm39)		probably benign	Het
Duxf4	G	A	10: 58,072,175 (GRCm39)	T13I	possibly damaging	Het
Esp24	T	A	17: 39,349,207 (GRCm39)	I11N	possibly damaging	Het
Exoc4	A	G	6: 33,242,910 (GRCm39)	E41G	probably damaging	Het
Eya1	T	A	1: 14,344,433 (GRCm39)		probably null	Het
Gria4	T	A	9: 4,513,278 (GRCm39)	D277V	probably benign	Het
Il18r1	A	T	1: 40,530,227 (GRCm39)	D318V	probably damaging	Het
Il4i1	T	C	7: 44,486,082 (GRCm39)	L22P	probably damaging	Het
Inpp5d	C	A	1: 87,595,779 (GRCm39)	T175N	possibly damaging	Het
Krt90	T	A	15: 101,469,028 (GRCm39)	L171F	probably damaging	Het
Mthfd1	A	G	12: 76,350,523 (GRCm39)		probably null	Het
Or51f5	T	C	7: 102,423,962 (GRCm39)	L77P	possibly damaging	Het
Or51q1	T	C	7: 103,628,609 (GRCm39)	L76P	probably damaging	Het
Or5an1c	T	C	19: 12,218,954 (GRCm39)	I24V	probably benign	Het
Or6c1b	A	T	10: 129,273,176 (GRCm39)	D165V	probably damaging	Het
Pla2g4f	T	C	2: 120,133,587 (GRCm39)	S579G	probably benign	Het
Ppef2	T	G	5: 92,376,581 (GRCm39)	S649R	probably damaging	Het
Prss43	G	C	9: 110,658,532 (GRCm39)	Q277H	probably damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,137,371 (GRCm39)		probably benign	Het
Rusc2	T	G	4: 43,415,935 (GRCm39)	S414A	probably damaging	Het
Sez6l	A	G	5: 112,623,227 (GRCm39)	L108P	possibly damaging	Het
Slc12a5	A	G	2: 164,810,351 (GRCm39)	D10G	probably benign	Het
Slc1a7	A	G	4: 107,868,191 (GRCm39)	E497G	probably benign	Het
Sos1	T	C	17: 80,714,146 (GRCm39)	D1108G	probably benign	Het
Spag8	T	A	4: 43,651,606 (GRCm39)	S423C	probably damaging	Het
Tacc2	A	G	7: 130,336,724 (GRCm39)	T2369A	probably benign	Het
Taok2	T	C	7: 126,470,030 (GRCm39)	I933V	possibly damaging	Het
Tex9	C	A	9: 72,385,040 (GRCm39)	Q265H	possibly damaging	Het
Trim69	T	C	2: 122,009,125 (GRCm39)	V395A	probably benign	Het
Tusc1	C	A	4: 93,223,173 (GRCm39)	R162L	probably damaging	Het
Ubr5	T	C	15: 38,004,479 (GRCm39)		probably benign	Het
Utp25	A	C	1: 192,810,810 (GRCm39)	S64R	possibly damaging	Het
Zfyve28	C	T	5: 34,357,028 (GRCm39)	M723I	probably benign	Het
Zmynd8	A	T	2: 165,657,371 (GRCm39)	M533K	probably damaging	Het

Other mutations in Gckr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Gckr	APN	5	31,456,920 (GRCm39)	missense	probably damaging	1.00
IGL00325:Gckr	APN	5	31,465,111 (GRCm39)	missense	possibly damaging	0.92
IGL00958:Gckr	APN	5	31,456,129 (GRCm39)	splice site	probably null
IGL01102:Gckr	APN	5	31,466,381 (GRCm39)	missense	probably damaging	0.97
IGL01380:Gckr	APN	5	31,456,977 (GRCm39)	unclassified	probably benign
IGL01780:Gckr	APN	5	31,465,134 (GRCm39)	missense	possibly damaging	0.82
IGL02110:Gckr	APN	5	31,456,082 (GRCm39)	missense	possibly damaging	0.94
IGL02187:Gckr	APN	5	31,464,768 (GRCm39)	splice site	probably benign
IGL02350:Gckr	APN	5	31,465,134 (GRCm39)	missense	possibly damaging	0.82
IGL02357:Gckr	APN	5	31,465,134 (GRCm39)	missense	possibly damaging	0.82
IGL02600:Gckr	APN	5	31,462,374 (GRCm39)	missense	probably benign	0.01
IGL02616:Gckr	APN	5	31,484,419 (GRCm39)	missense	probably benign	0.07
IGL02803:Gckr	APN	5	31,455,548 (GRCm39)	missense	probably damaging	1.00
R0004:Gckr	UTSW	5	31,454,933 (GRCm39)	unclassified	probably benign
R0079:Gckr	UTSW	5	31,463,883 (GRCm39)	missense	probably benign	0.01
R0165:Gckr	UTSW	5	31,484,292 (GRCm39)	missense	possibly damaging	0.90
R0853:Gckr	UTSW	5	31,462,392 (GRCm39)	missense	probably damaging	1.00
R0964:Gckr	UTSW	5	31,484,259 (GRCm39)	splice site	probably benign
R2174:Gckr	UTSW	5	31,484,353 (GRCm39)	missense	possibly damaging	0.95
R2212:Gckr	UTSW	5	31,458,211 (GRCm39)	critical splice donor site	probably null
R2892:Gckr	UTSW	5	31,483,816 (GRCm39)	missense	probably benign	0.00
R3413:Gckr	UTSW	5	31,458,211 (GRCm39)	critical splice donor site	probably null
R3764:Gckr	UTSW	5	31,483,842 (GRCm39)	splice site	probably benign
R4608:Gckr	UTSW	5	31,465,141 (GRCm39)	missense	probably damaging	0.99
R4757:Gckr	UTSW	5	31,464,728 (GRCm39)	missense	possibly damaging	0.49
R4814:Gckr	UTSW	5	31,455,644 (GRCm39)	nonsense	probably null
R4953:Gckr	UTSW	5	31,465,608 (GRCm39)	missense	probably damaging	1.00
R5906:Gckr	UTSW	5	31,463,922 (GRCm39)	missense	probably damaging	1.00
R7030:Gckr	UTSW	5	31,459,554 (GRCm39)	missense	possibly damaging	0.89
R7665:Gckr	UTSW	5	31,454,899 (GRCm39)
R7684:Gckr	UTSW	5	31,465,141 (GRCm39)	missense	probably damaging	1.00
R8432:Gckr	UTSW	5	31,466,447 (GRCm39)	missense	possibly damaging	0.82
R8925:Gckr	UTSW	5	31,456,903 (GRCm39)	missense	probably damaging	0.98
R8927:Gckr	UTSW	5	31,456,903 (GRCm39)	missense	probably damaging	0.98
R9045:Gckr	UTSW	5	31,457,353 (GRCm39)	missense	possibly damaging	0.94
R9628:Gckr	UTSW	5	31,457,934 (GRCm39)	missense	probably damaging	1.00
R9783:Gckr	UTSW	5	31,466,399 (GRCm39)	missense	probably benign
R9803:Gckr	UTSW	5	31,457,368 (GRCm39)	missense	probably damaging	1.00
Z1176:Gckr	UTSW	5	31,458,175 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAAGAAGGTCTGTGTCTCCTG -3'
(R):5'- CACTGACTGCCAGAGTAGCTTG -3'

Sequencing Primer
(F):5'- ACCTGGAGATGCCCATATATTC -3'
(R):5'- CAGAGTAGCTTGCTGACTCCTG -3'

Posted On

2015-02-18