Mutagenetix > Incidental Mutation

Incidental Mutation 'R4608:Gckr'

350872

Institutional Source

Beutler Lab

Gene Symbol

Gckr

Ensembl Gene

ENSMUSG00000059434

Gene Name

glucokinase regulatory protein

Synonyms

GKRP

MMRRC Submission

041819-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31454787-31484658 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31465141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 370 (D370G)

Ref Sequence

ENSEMBL: ENSMUSP00000072084 (fasta)

Gene Model

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

AlphaFold

Q91X44

Predicted Effect

probably damaging
Transcript: ENSMUST00000072228
AA Change: D370G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
AA Change: D370G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201166
AA Change: D370G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
AA Change: D370G

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

Meta Mutation Damage Score

0.0779

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,308,855 (GRCm39)	I74V	unknown	Het
Acss3	T	A	10: 106,802,890 (GRCm39)	I452F	possibly damaging	Het
Adam10	T	C	9: 70,651,173 (GRCm39)	L66P	probably damaging	Het
Adamts18	A	T	8: 114,464,245 (GRCm39)	C738S	probably damaging	Het
Adamts7	T	G	9: 90,056,593 (GRCm39)	S221A	probably damaging	Het
Adrm1	A	G	2: 179,816,648 (GRCm39)		probably benign	Het
Aqp1	T	C	6: 55,313,624 (GRCm39)	V50A	possibly damaging	Het
Aqp4	T	C	18: 15,531,183 (GRCm39)	I193V	probably benign	Het
B130006D01Rik	A	T	11: 95,617,066 (GRCm39)		probably benign	Het
Bbs10	T	G	10: 111,136,681 (GRCm39)	I598S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Ccdc121rt2	A	G	5: 112,597,764 (GRCm39)	S104G	possibly damaging	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcdc2a	T	A	13: 25,245,223 (GRCm39)	L100*	probably null	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
F5	C	T	1: 164,036,598 (GRCm39)	P1920S	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fancc	C	A	13: 63,479,637 (GRCm39)		probably benign	Het
Fastk	G	T	5: 24,648,117 (GRCm39)	P233H	probably damaging	Het
Fbn1	A	C	2: 125,148,420 (GRCm39)	D2609E	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Ggt6	T	C	11: 72,328,769 (GRCm39)	M385T	probably benign	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints1	C	T	5: 139,745,599 (GRCm39)	S1353N	probably benign	Het
Ints10	G	A	8: 69,263,271 (GRCm39)	R394Q	probably damaging	Het
Ints6	T	G	14: 62,940,678 (GRCm39)	R557S	probably damaging	Het
Ints9	T	A	14: 65,269,729 (GRCm39)	I473N	possibly damaging	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kif1a	C	A	1: 92,952,368 (GRCm39)	A1304S	possibly damaging	Het
Kif21b	C	T	1: 136,075,924 (GRCm39)		probably benign	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Krtap4-8	C	T	11: 99,671,321 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Lrch4	T	A	5: 137,637,408 (GRCm39)	L526*	probably null	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Nod1	C	A	6: 54,920,741 (GRCm39)	A526S	probably damaging	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Nxf1	A	G	19: 8,740,127 (GRCm39)	D98G	probably benign	Het
Or13a24	A	G	7: 140,154,554 (GRCm39)	M163V	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or2t1	A	G	14: 14,328,887 (GRCm38)	M259V	probably benign	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Osgep	T	C	14: 51,155,378 (GRCm39)	Y60C	probably damaging	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdha7	A	T	18: 37,108,870 (GRCm39)	S632C	possibly damaging	Het
Pms1	T	A	1: 53,234,097 (GRCm39)	R806S	possibly damaging	Het
Qars1	T	A	9: 108,386,625 (GRCm39)		probably null	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Slc12a5	A	T	2: 164,815,685 (GRCm39)	N67I	probably damaging	Het
Slc1a4	G	T	11: 20,254,348 (GRCm39)	T506K	probably damaging	Het
Stimate	C	A	14: 30,594,490 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,173 (GRCm39)	I488N	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Xab2	A	G	8: 3,668,105 (GRCm39)	S158P	probably benign	Het
Ythdc1	T	C	5: 86,970,667 (GRCm39)	S418P	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp367	C	T	13: 64,283,238 (GRCm39)	D305N	probably damaging	Het
Zfp804b	C	T	5: 6,822,584 (GRCm39)	V160I	probably benign	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
R3412:Gckr	UTSW	5	31,458,211 (GRCm39)	critical splice donor site	probably null
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
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'- CGAAGCATCAAATTCCATGTGG -3'
(R):5'- GATCTCCATGTCCTCTGACCAG -3'

Sequencing Primer
(F):5'- CATCAAATTCCATGTGGGTCCTTGAG -3'
(R):5'- GACCAGTCCTTCCTGAGATTG -3'

Posted On

2015-10-08