Mutagenetix > Incidental Mutation

Incidental Mutation 'R6139:Gk2'

488481

Institutional Source

Beutler Lab

Gene Symbol

Gk2

Ensembl Gene

ENSMUSG00000050553

Gene Name

glycerol kinase 2

Synonyms

Gk-rs2

MMRRC Submission

044286-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6139 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97603001-97604880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97604139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 233 (V233A)

Ref Sequence

ENSEMBL: ENSMUSP00000052226 (fasta)

Gene Model

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

AlphaFold

Q9WU65

Predicted Effect

probably benign
Transcript: ENSMUST00000059657
AA Change: V233A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000052226
Gene: ENSMUSG00000050553
AA Change: V233A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181724

Meta Mutation Damage Score

0.6345

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	G	11: 117,697,150 (GRCm39)	T250A	probably damaging	Het
Acacb	T	C	5: 114,350,713 (GRCm39)	I1074T	probably damaging	Het
Acsl6	C	A	11: 54,231,368 (GRCm39)	P462T	probably damaging	Het
Aebp1	A	G	11: 5,821,842 (GRCm39)	D747G	probably damaging	Het
Antxr2	A	C	5: 98,125,565 (GRCm39)		probably null	Het
Arhgap35	T	C	7: 16,297,392 (GRCm39)	T558A	possibly damaging	Het
Asap1	T	A	15: 64,038,388 (GRCm39)	I223F	possibly damaging	Het
C2cd5	A	C	6: 142,980,784 (GRCm39)	D669E	probably damaging	Het
Casz1	C	T	4: 149,036,154 (GRCm39)	T1472M	probably damaging	Het
Catsper4	A	G	4: 133,945,177 (GRCm39)	L154P	probably damaging	Het
Cep350	T	C	1: 155,829,025 (GRCm39)	E293G	probably benign	Het
Cma1	T	A	14: 56,180,157 (GRCm39)		probably null	Het
Ddx42	C	T	11: 106,130,843 (GRCm39)	A439V	probably damaging	Het
Disp2	T	A	2: 118,621,143 (GRCm39)	L625Q	probably damaging	Het
Dnah1	T	C	14: 31,007,984 (GRCm39)	D2141G	probably benign	Het
Dsp	T	C	13: 38,376,382 (GRCm39)	I1389T	probably damaging	Het
Fam81a	A	T	9: 70,010,100 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,821,388 (GRCm39)	D5707G	possibly damaging	Het
Gcnt4	G	A	13: 97,083,360 (GRCm39)	V219I	probably benign	Het
Grm1	T	C	10: 10,622,075 (GRCm39)		probably benign	Het
Gsap	T	A	5: 21,486,538 (GRCm39)	V649D	probably damaging	Het
Kif1b	G	A	4: 149,321,989 (GRCm39)	H977Y	possibly damaging	Het
Ktn1	T	A	14: 47,963,672 (GRCm39)		probably null	Het
Lgals12	T	A	19: 7,581,742 (GRCm39)	T29S	probably benign	Het
Me3	G	T	7: 89,282,108 (GRCm39)		probably benign	Het
Mgst3	T	G	1: 167,205,874 (GRCm39)	K35T	possibly damaging	Het
Mtmr9	T	C	14: 63,767,227 (GRCm39)	R354G	probably benign	Het
Myh11	T	C	16: 14,033,738 (GRCm39)	E1059G	probably damaging	Het
Nr4a2	T	A	2: 56,998,701 (GRCm39)	H408L	probably damaging	Het
Or56b35	A	T	7: 104,963,453 (GRCm39)	T81S	probably damaging	Het
Or5ak23	A	T	2: 85,244,690 (GRCm39)	F178I	probably damaging	Het
Pds5b	T	A	5: 150,724,242 (GRCm39)	L1275Q	possibly damaging	Het
Pfkfb4	A	G	9: 108,856,825 (GRCm39)	Y412C	probably damaging	Het
Pop1	T	A	15: 34,529,204 (GRCm39)	C745S	probably benign	Het
Ptpn14	T	G	1: 189,583,362 (GRCm39)	S736R	probably benign	Het
Rdh9	A	T	10: 127,612,606 (GRCm39)	T85S	possibly damaging	Het
Rnf223	T	C	4: 156,217,260 (GRCm39)	C212R	probably damaging	Het
Rnf39	A	G	17: 37,254,230 (GRCm39)	E84G	probably damaging	Het
Sfmbt1	T	A	14: 30,533,375 (GRCm39)	V584D	probably damaging	Het
Slc12a5	T	A	2: 164,834,231 (GRCm39)	S728T	probably damaging	Het
Slc16a12	T	A	19: 34,648,295 (GRCm39)		probably null	Het
Snupn	C	A	9: 56,890,108 (GRCm39)	Q310K	possibly damaging	Het
St7	T	C	6: 17,694,353 (GRCm39)	L48P	probably damaging	Het
Thsd7a	T	C	6: 12,379,572 (GRCm39)	N951D	possibly damaging	Het
Ttn	G	A	2: 76,682,413 (GRCm39)	R959*	probably null	Het
Ugt2b36	A	T	5: 87,240,030 (GRCm39)	D118E	probably benign	Het
Vmn2r7	G	A	3: 64,623,339 (GRCm39)	T327I	probably damaging	Het
Wdr70	T	C	15: 8,108,735 (GRCm39)	D137G	probably benign	Het
Wrn	A	T	8: 33,843,360 (GRCm39)	M14K	probably damaging	Het
Xpot	T	A	10: 121,447,613 (GRCm39)	E283V	probably benign	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
R6792:Gk2	UTSW	5	97,603,588 (GRCm39)	missense	probably benign	0.02
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'- AATGTGGTCAGAAGGCCATGTTC -3'
(R):5'- GCAGAGCCATGTTTGGAACC -3'

Sequencing Primer
(F):5'- GAAAACACACATTTCTGGCCTG -3'
(R):5'- GAGCCATGTTTGGAACCATCGAC -3'

Posted On

2017-10-10