Mutagenetix > Incidental Mutation

Incidental Mutation 'R6792:Gk2'

532636

Institutional Source

Beutler Lab

Gene Symbol

Gk2

Ensembl Gene

ENSMUSG00000050553

Gene Name

glycerol kinase 2

Synonyms

Gk-rs2

MMRRC Submission

044905-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97603001-97604880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97603588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 417 (I417V)

Ref Sequence

ENSEMBL: ENSMUSP00000052226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059657]

AlphaFold

Q9WU65

Predicted Effect

probably benign
Transcript: ENSMUST00000059657
AA Change: I417V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000052226
Gene: ENSMUSG00000050553
AA Change: I417V

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	12	266	2.3e-82	PFAM
Pfam:FGGY_C	275	467	5.8e-66	PFAM

Meta Mutation Damage Score

0.1747

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	A	6: 128,523,292 (GRCm39)	Q1215*	probably null	Het
Aldh2	C	T	5: 121,718,712 (GRCm39)	G64R	probably damaging	Het
Atp11a	G	A	8: 12,911,939 (GRCm39)		probably benign	Het
Bcl11b	T	C	12: 107,955,993 (GRCm39)	D52G	probably damaging	Het
Bltp1	A	G	3: 37,065,715 (GRCm39)		probably null	Het
Capg	T	A	6: 72,532,537 (GRCm39)	I34K	possibly damaging	Het
Card11	T	A	5: 140,899,064 (GRCm39)	I37F	probably damaging	Het
Col27a1	G	T	4: 63,235,740 (GRCm39)	R724L	unknown	Het
Cryl1	T	C	14: 57,620,224 (GRCm39)	E47G	probably damaging	Het
Dgkb	A	T	12: 38,150,424 (GRCm39)	D70V	possibly damaging	Het
Dscam	T	C	16: 96,394,455 (GRCm39)	E1949G	probably damaging	Het
Dscam	A	G	16: 96,449,437 (GRCm39)	V1387A	probably damaging	Het
Exph5	G	A	9: 53,286,617 (GRCm39)	V1233M	possibly damaging	Het
Fat3	A	T	9: 16,286,940 (GRCm39)	V861E	probably damaging	Het
Fgfr4	T	G	13: 55,304,711 (GRCm39)	D184E	possibly damaging	Het
Fkbp14	G	T	6: 54,562,837 (GRCm39)	S49*	probably null	Het
Ginm1	T	C	10: 7,649,747 (GRCm39)	D182G	probably damaging	Het
Kmt2e	TGCCGCCGCCGCCGCCACCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC	5: 23,704,474 (GRCm39)		probably benign	Het
Malrd1	C	T	2: 16,155,567 (GRCm39)	P1992L	unknown	Het
Mapk6	A	T	9: 75,302,830 (GRCm39)	I221N	probably damaging	Het
Mup9	A	G	4: 60,377,354 (GRCm39)	V65A	possibly damaging	Het
Myo15b	A	G	11: 115,775,923 (GRCm39)	D805G	probably damaging	Het
Nup50l	T	C	6: 96,142,096 (GRCm39)	E316G	possibly damaging	Het
Or52a5b	A	G	7: 103,417,346 (GRCm39)	I86T	possibly damaging	Het
Or8k35	A	T	2: 86,424,283 (GRCm39)	D296E	probably benign	Het
Otof	T	A	5: 30,532,978 (GRCm39)	H1588L	probably damaging	Het
Pakap	A	G	4: 57,855,880 (GRCm39)	D403G	possibly damaging	Het
Pde4a	A	G	9: 21,103,886 (GRCm39)	K145R	probably benign	Het
Pik3ap1	A	T	19: 41,310,065 (GRCm39)	D418E	probably benign	Het
Pilrb2	C	A	5: 137,866,852 (GRCm39)	R217M	possibly damaging	Het
Plcb2	T	C	2: 118,549,922 (GRCm39)	N232S	probably damaging	Het
Ppargc1b	C	A	18: 61,440,747 (GRCm39)	G724W	probably damaging	Het
Ppp2r5d	A	G	17: 47,015,782 (GRCm39)	S2P	probably benign	Het
Prr5l	T	G	2: 101,547,769 (GRCm39)	N252T	probably benign	Het
Rbmyf5	A	G	Y: 3,298,867 (GRCm39)	Y206H	possibly damaging	Homo
Rilp	A	T	11: 75,403,601 (GRCm39)	K348*	probably null	Het
Slc17a7	A	G	7: 44,824,299 (GRCm39)	E505G	possibly damaging	Het
Slc6a21	T	A	7: 44,929,309 (GRCm39)	M1K	probably null	Het
Sorcs1	T	C	19: 50,666,606 (GRCm39)	T101A	probably benign	Het
Sorl1	A	T	9: 42,010,559 (GRCm39)	V137E	probably damaging	Het
Stam2	T	C	2: 52,597,993 (GRCm39)	I270V	probably benign	Het
Synj2	G	A	17: 6,040,565 (GRCm39)	A214T	probably benign	Het
Tars3	G	T	7: 65,312,051 (GRCm39)	C321F	probably damaging	Het
Tcea1	T	A	1: 4,962,268 (GRCm39)	D229E	probably benign	Het
Tdrd9	C	T	12: 111,993,547 (GRCm39)	R692W	probably benign	Het
Tkfc	T	C	19: 10,571,888 (GRCm39)	T383A	probably benign	Het
Traf1	T	C	2: 34,846,287 (GRCm39)	D43G	probably benign	Het
Tubgcp6	C	T	15: 89,007,080 (GRCm39)		probably benign	Het
Vit	A	T	17: 78,886,828 (GRCm39)	Y152F	probably damaging	Het
Vmn1r66	A	T	7: 10,008,412 (GRCm39)	M207K	possibly damaging	Het

Other mutations in Gk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01519:Gk2	APN	5	97,603,646 (GRCm39)	missense	probably damaging	1.00
R0967:Gk2	UTSW	5	97,604,155 (GRCm39)	missense	probably benign
R1307:Gk2	UTSW	5	97,603,268 (GRCm39)	missense	probably benign
R2111:Gk2	UTSW	5	97,604,164 (GRCm39)	missense	probably benign	0.00
R3939:Gk2	UTSW	5	97,603,211 (GRCm39)	missense	possibly damaging	0.81
R4646:Gk2	UTSW	5	97,604,056 (GRCm39)	missense	probably damaging	0.98
R4648:Gk2	UTSW	5	97,603,579 (GRCm39)	missense	probably benign	0.04
R4718:Gk2	UTSW	5	97,603,725 (GRCm39)	missense	probably benign	0.02
R6139:Gk2	UTSW	5	97,604,139 (GRCm39)	missense	probably benign	0.03
R7078:Gk2	UTSW	5	97,604,195 (GRCm39)	missense	probably benign	0.00
R7088:Gk2	UTSW	5	97,603,534 (GRCm39)	missense	probably damaging	0.97
R7388:Gk2	UTSW	5	97,604,757 (GRCm39)	missense	probably damaging	1.00
R7699:Gk2	UTSW	5	97,604,257 (GRCm39)	missense	probably benign
R8766:Gk2	UTSW	5	97,604,110 (GRCm39)	missense	probably benign	0.00
R8878:Gk2	UTSW	5	97,604,341 (GRCm39)	missense	probably benign	0.00
X0062:Gk2	UTSW	5	97,604,508 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GTGGTTCATATCGTTCCATCAAGATC -3'
(R):5'- TGGCTGCTACTTTGTCCCAG -3'

Sequencing Primer
(F):5'- TCGTTCCATCAAGATCGTAGAC -3'
(R):5'- TGTCCCAGCCTTTTCGGGG -3'

Posted On

2018-08-29