Mutagenetix > Incidental Mutation

Incidental Mutation 'R3939:Gk2'

308593

Institutional Source

Beutler Lab

Gene Symbol

Gk2

Ensembl Gene

ENSMUSG00000050553

Gene Name

glycerol kinase 2

Synonyms

Gk-rs2

MMRRC Submission

040826-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3939 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97603001-97604880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97603211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 542 (L542F)

Ref Sequence

ENSEMBL: ENSMUSP00000052226 (fasta)

Gene Model

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

AlphaFold

Q9WU65

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059657
AA Change: L542F

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052226
Gene: ENSMUSG00000050553
AA Change: L542F

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Atp13a2	T	C	4: 140,733,733 (GRCm39)	S1041P	probably damaging	Het
Brinp3	C	A	1: 146,627,599 (GRCm39)	D277E	probably damaging	Het
Cacnb4	C	A	2: 52,359,501 (GRCm39)	R169L	probably damaging	Het
Col13a1	T	C	10: 61,698,861 (GRCm39)	I491V	unknown	Het
Corin	T	C	5: 72,497,222 (GRCm39)	D531G	possibly damaging	Het
Cx3cr1	C	T	9: 119,880,710 (GRCm39)	V231I	probably benign	Het
Dennd4c	T	G	4: 86,692,517 (GRCm39)	V9G	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Faf1	T	G	4: 109,719,076 (GRCm39)	L394R	probably damaging	Het
Fgfr4	G	A	13: 55,304,307 (GRCm39)	D116N	probably null	Het
Flt3	A	G	5: 147,293,053 (GRCm39)	Y518H	possibly damaging	Het
Frem3	T	C	8: 81,341,649 (GRCm39)	I1314T	possibly damaging	Het
Gm4922	T	A	10: 18,660,362 (GRCm39)	E120V	probably damaging	Het
Hip1	A	T	5: 135,457,618 (GRCm39)	I285N	probably benign	Het
Kcnd2	C	A	6: 21,217,095 (GRCm39)	D266E	probably damaging	Het
Kdr	C	T	5: 76,133,089 (GRCm39)	W63*	probably null	Het
Kit	A	G	5: 75,769,978 (GRCm39)	D130G	probably benign	Het
Megf8	G	A	7: 25,058,627 (GRCm39)	V2208I	probably benign	Het
Neto2	G	A	8: 86,400,747 (GRCm39)	T16I	probably damaging	Het
Nktr	T	A	9: 121,578,135 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 90,515,849 (GRCm39)	I1207T	probably damaging	Het
Obox7	G	A	7: 14,397,972 (GRCm39)	G4D	probably benign	Het
Ogdh	G	A	11: 6,300,655 (GRCm39)	W827*	probably null	Het
Or13g1	T	C	7: 85,955,437 (GRCm39)	M295V	probably benign	Het
Or4c118	T	A	2: 88,974,474 (GRCm39)	K298*	probably null	Het
Or4k15c	A	G	14: 50,321,173 (GRCm39)	*322Q	probably null	Het
Pcdhga9	G	A	18: 37,871,995 (GRCm39)	R608H	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Sbpl	T	A	17: 24,172,617 (GRCm39)	I101L	probably benign	Het
Serpina9	T	A	12: 103,975,151 (GRCm39)	M1L	probably benign	Het
Stxbp6	A	G	12: 44,949,641 (GRCm39)		probably null	Het
Synpo2	A	G	3: 122,908,239 (GRCm39)	V359A	probably damaging	Het
Ttyh1	T	A	7: 4,132,317 (GRCm39)	L155H	probably damaging	Het
Vil1	A	G	1: 74,471,574 (GRCm39)	D785G	probably benign	Het
Zfp345	G	A	2: 150,314,473 (GRCm39)	H355Y	probably 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
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
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'- AAGGAGTATTTGTAGGGGCCTC -3'
(R):5'- TGTCATGCCTGAAACGACGG -3'

Sequencing Primer
(F):5'- CCTCATGGGTTCCTGTAAGCAAG -3'
(R):5'- CGATCTTGATGGAACGATATGAACC -3'

Posted On

2015-04-17