Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4531001:Adpgk'

556462

Institutional Source

Beutler Lab

Gene Symbol

Adpgk

Ensembl Gene

ENSMUSG00000025236

Gene Name

ADP-dependent glucokinase

Synonyms

2610017G09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4531001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59198855-59223483 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59217600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 204 (D204E)

Ref Sequence

ENSEMBL: ENSMUSP00000149882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026266] [ENSMUST00000217570]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026266
AA Change: D204E

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026266
Gene: ENSMUSG00000025236
AA Change: D204E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ADP_PFK_GK	73	490	1.9e-140	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217570
AA Change: D204E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 93.0%
3x: 90.6%
10x: 84.3%
20x: 70.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqr	C	A	2: 113,961,215 (GRCm39)	V682L	possibly damaging	Het
Bmper	A	T	9: 23,136,113 (GRCm39)	N65Y	possibly damaging	Het
Calb1	T	C	4: 15,900,925 (GRCm39)	L171P	probably damaging	Het
Card11	T	C	5: 140,892,415 (GRCm39)	M217V	probably damaging	Het
Col11a2	A	G	17: 34,265,412 (GRCm39)		probably null	Het
Dpm1	T	C	2: 168,052,472 (GRCm39)	T255A	probably benign	Het
Efhb	A	G	17: 53,752,803 (GRCm39)	Y440H	probably damaging	Het
Elp2	T	C	18: 24,737,170 (GRCm39)	V40A	probably damaging	Het
Far2	A	T	6: 148,076,629 (GRCm39)	N491Y	possibly damaging	Het
Frem1	T	A	4: 82,868,517 (GRCm39)	H1488L	probably benign	Het
Frrs1l	C	A	4: 56,990,144 (GRCm39)	R43L	unknown	Het
Galnt3	G	A	2: 65,937,432 (GRCm39)	R93C	probably benign	Het
Gm8225	A	G	17: 26,762,363 (GRCm39)	T185A	possibly damaging	Het
H2-Q1	T	C	17: 35,539,892 (GRCm39)	F54L	probably benign	Het
H2-Q1	A	T	17: 35,540,055 (GRCm39)	Q108L	probably damaging	Het
Hoxc12	T	G	15: 102,846,855 (GRCm39)	L249W	probably damaging	Het
Lrrc75b	A	T	10: 75,393,099 (GRCm39)	H83Q	probably damaging	Het
Muc4	A	T	16: 32,576,391 (GRCm39)	T1964S	unknown	Het
Nob1	T	C	8: 108,145,049 (GRCm39)	D142G	probably benign	Het
Or2y1d	T	C	11: 49,321,753 (GRCm39)	V150A	probably benign	Het
Or4p19	A	T	2: 88,242,104 (GRCm39)	H299Q	probably benign	Het
Or4p22	A	T	2: 88,317,601 (GRCm39)	Y175F	possibly damaging	Het
Or5b24	G	A	19: 12,912,641 (GRCm39)	D180N	probably damaging	Het
Or5d16	A	G	2: 87,773,571 (GRCm39)	Y134H	probably damaging	Het
Patj	A	T	4: 98,329,327 (GRCm39)	N527I	probably damaging	Het
Pik3c2g	A	G	6: 139,805,096 (GRCm39)	I543V		Het
Ppp1r2	A	T	16: 31,077,279 (GRCm39)	N150K	probably damaging	Het
Prl7d1	A	T	13: 27,894,161 (GRCm39)	L135Q	probably damaging	Het
Ralgds	G	T	2: 28,435,226 (GRCm39)	E461*	probably null	Het
Ramac	C	T	7: 81,417,327 (GRCm39)	P9L	possibly damaging	Het
Rasa3	T	A	8: 13,655,887 (GRCm39)	H116L	probably benign	Het
Sec24d	C	T	3: 123,136,827 (GRCm39)	P520L	probably damaging	Het
Sfmbt1	T	G	14: 30,518,283 (GRCm39)	S376A	probably benign	Het
Sspo	A	G	6: 48,458,173 (GRCm39)	T3290A	probably benign	Het
Stk25	G	A	1: 93,552,346 (GRCm39)	P345S	probably benign	Het
Sycp2l	A	G	13: 41,300,148 (GRCm39)	E454G	probably null	Het
Tecpr1	T	C	5: 144,150,885 (GRCm39)	K308E	probably damaging	Het
Thtpa	C	T	14: 55,332,962 (GRCm39)	P16S	probably damaging	Het
Trim65	T	A	11: 116,018,535 (GRCm39)	I247F	possibly damaging	Het
Trpc6	T	G	9: 8,610,149 (GRCm39)	Y206D	probably benign	Het
Ttn	G	A	2: 76,703,307 (GRCm39)	T9357I	unknown	Het
Ugt2b1	C	A	5: 87,074,342 (GRCm39)	A6S	probably benign	Het
Vmn1r175	A	G	7: 23,508,603 (GRCm39)	V8A	possibly damaging	Het
Vps13b	T	A	15: 35,878,971 (GRCm39)	I2990N	probably damaging	Het
Xirp2	G	A	2: 67,345,826 (GRCm39)	R2689Q	possibly damaging	Het
Zfp831	T	A	2: 174,488,516 (GRCm39)	Y1064N	possibly damaging	Het

Other mutations in Adpgk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03129:Adpgk	APN	9	59,221,088 (GRCm39)	missense	probably damaging	1.00
R1103:Adpgk	UTSW	9	59,221,079 (GRCm39)	missense	probably damaging	1.00
R1158:Adpgk	UTSW	9	59,217,566 (GRCm39)	missense	possibly damaging	0.70
R1857:Adpgk	UTSW	9	59,222,248 (GRCm39)	missense	probably benign	0.00
R2363:Adpgk	UTSW	9	59,222,136 (GRCm39)	missense	probably benign
R2483:Adpgk	UTSW	9	59,221,036 (GRCm39)	missense	probably benign	0.03
R3623:Adpgk	UTSW	9	59,221,036 (GRCm39)	missense	probably benign	0.03
R4549:Adpgk	UTSW	9	59,217,511 (GRCm39)	missense	probably damaging	1.00
R5124:Adpgk	UTSW	9	59,222,561 (GRCm39)	missense	possibly damaging	0.85
R5426:Adpgk	UTSW	9	59,204,832 (GRCm39)	missense	probably damaging	1.00
R7055:Adpgk	UTSW	9	59,220,476 (GRCm39)	missense	possibly damaging	0.75
R7348:Adpgk	UTSW	9	59,221,069 (GRCm39)	missense	probably benign	0.00
R7901:Adpgk	UTSW	9	59,222,300 (GRCm39)	missense	probably benign
R8706:Adpgk	UTSW	9	59,222,456 (GRCm39)	missense	probably benign	0.00
R8892:Adpgk	UTSW	9	59,217,623 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTGCTGGTTACTGTGTAG -3'
(R):5'- GCAATGCTGTTAGCCTATCAC -3'

Sequencing Primer
(F):5'- AGATTCTATGGGTTGGGAACTGATC -3'
(R):5'- AATGCTGTTAGCCTATCACCCTACAG -3'

Posted On

2019-06-07