Mutagenetix > Incidental Mutation

Incidental Mutation 'R2048:Adk'

222265

Institutional Source

Beutler Lab

Gene Symbol

Adk

Ensembl Gene

ENSMUSG00000039197

Gene Name

adenosine kinase

Synonyms

2310026J05Rik, 5033405D03Rik, AK

MMRRC Submission

040055-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2048 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21102642-21498637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21368244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 223 (N223S)

Ref Sequence

ENSEMBL: ENSMUSP00000153089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045376] [ENSMUST00000223915] [ENSMUST00000224069]

AlphaFold

P55264

Predicted Effect

probably damaging
Transcript: ENSMUST00000045376
AA Change: N239S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047665
Gene: ENSMUSG00000039197
AA Change: N239S

Domain	Start	End	E-Value	Type
Pfam:PfkB	41	359	1.1e-81	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000223645
AA Change: N17S

Predicted Effect

probably benign
Transcript: ENSMUST00000223915

Predicted Effect

probably damaging
Transcript: ENSMUST00000224069
AA Change: N223S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225742

Meta Mutation Damage Score

0.8525

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in death before 14 days of age, growth retardation, liver abnormalities, apnea, and impaired temperature regulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	G	9: 70,647,357 (GRCm39)	D19G	possibly damaging	Het
Adhfe1	A	G	1: 9,633,778 (GRCm39)	K342R	probably benign	Het
Aff4	A	G	11: 53,289,212 (GRCm39)	S454G	probably benign	Het
Ahnak	T	A	19: 8,984,420 (GRCm39)	N1901K	probably damaging	Het
Camsap1	T	C	2: 25,819,755 (GRCm39)	T1578A	probably benign	Het
Ccdc63	A	C	5: 122,268,350 (GRCm39)		probably null	Het
Ceacam1	G	T	7: 25,176,113 (GRCm39)	S27Y	probably benign	Het
Cit	T	C	5: 116,024,872 (GRCm39)		probably null	Het
Cntn4	A	G	6: 106,414,825 (GRCm39)		probably benign	Het
Cyp2d26	A	G	15: 82,676,928 (GRCm39)		probably benign	Het
Cyp3a13	A	T	5: 137,908,237 (GRCm39)	V204E	probably damaging	Het
Cyp51	G	A	5: 4,136,636 (GRCm39)		probably benign	Het
Dipk1a	T	C	5: 108,057,886 (GRCm39)	D179G	probably damaging	Het
Epb41l4b	T	G	4: 57,142,866 (GRCm39)	E96D	probably benign	Het
Epg5	A	G	18: 78,067,202 (GRCm39)	E2221G	probably damaging	Het
Fbxo21	T	A	5: 118,146,169 (GRCm39)	N597K	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fsip1	C	A	2: 118,072,197 (GRCm39)	E195D	probably damaging	Het
Gm10152	T	C	7: 144,317,049 (GRCm39)	F35L	unknown	Het
Gtpbp6	A	C	5: 110,254,931 (GRCm39)	V87G	probably damaging	Het
Hal	A	G	10: 93,327,002 (GRCm39)	T176A	probably damaging	Het
Il12rb2	G	T	6: 67,337,529 (GRCm39)	N117K	probably benign	Het
Kalrn	A	G	16: 34,072,680 (GRCm39)	V734A	probably benign	Het
Klf7	A	G	1: 64,117,913 (GRCm39)	V228A	possibly damaging	Het
Kng1	A	G	16: 22,877,354 (GRCm39)	Y54C	probably damaging	Het
Lpcat2	T	G	8: 93,596,471 (GRCm39)	N169K	possibly damaging	Het
Magohb	A	T	6: 131,266,385 (GRCm39)	S40R	probably damaging	Het
Mgam	A	G	6: 40,633,363 (GRCm39)	D186G	possibly damaging	Het
Mycbp2	A	G	14: 103,469,960 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,975,928 (GRCm39)	D1332G	probably damaging	Het
Myh9	G	A	15: 77,655,332 (GRCm39)	T1208M	possibly damaging	Het
Ncor2	C	T	5: 125,161,996 (GRCm39)	R426H	unknown	Het
Nradd	T	C	9: 110,450,697 (GRCm39)	E160G	probably benign	Het
Or10u4	G	A	10: 129,801,861 (GRCm39)	S230L	probably damaging	Het
Or2a54	T	A	6: 43,093,312 (GRCm39)	M212K	probably benign	Het
Otog	A	T	7: 45,937,063 (GRCm39)	T1591S	probably damaging	Het
Oxsr1	A	G	9: 119,076,140 (GRCm39)	S389P	probably benign	Het
Pde3a	A	G	6: 141,434,732 (GRCm39)		probably benign	Het
Pi4k2b	A	T	5: 52,905,773 (GRCm39)	I105L	probably benign	Het
Pilrb1	T	C	5: 137,853,153 (GRCm39)	R217G	possibly damaging	Het
Poteg	A	T	8: 27,946,774 (GRCm39)	I159L	probably benign	Het
Ppargc1a	A	G	5: 51,705,858 (GRCm39)	F75S	probably damaging	Het
Ptk2b	T	G	14: 66,409,954 (GRCm39)	D466A	probably benign	Het
Ptpn21	A	G	12: 98,655,785 (GRCm39)	V394A	possibly damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Shisa3	G	A	5: 67,768,651 (GRCm39)	E184K	possibly damaging	Het
Slc4a2	A	G	5: 24,636,557 (GRCm39)	H283R	probably damaging	Het
Slc9a3	A	G	13: 74,311,860 (GRCm39)	S603G	probably damaging	Het
Tas2r124	A	G	6: 132,731,858 (GRCm39)	I56V	possibly damaging	Het
Tbcd	G	T	11: 121,431,762 (GRCm39)	C470F	probably damaging	Het
Thsd1	A	G	8: 22,749,333 (GRCm39)	R674G	probably benign	Het
Zbtb11	T	A	16: 55,818,372 (GRCm39)	C599S	probably damaging	Het
Zfp541	A	G	7: 15,812,252 (GRCm39)	R302G	possibly damaging	Het

Other mutations in Adk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Adk	APN	14	21,142,461 (GRCm39)	missense	probably damaging	1.00
IGL01403:Adk	APN	14	21,284,983 (GRCm39)	missense	probably damaging	0.99
IGL01701:Adk	APN	14	21,153,922 (GRCm39)	missense	probably damaging	1.00
IGL02405:Adk	APN	14	21,153,899 (GRCm39)	missense	probably benign	0.06
IGL02808:Adk	APN	14	21,153,901 (GRCm39)	missense	probably benign	0.08
jeopardy	UTSW	14	21,284,982 (GRCm39)	missense	probably damaging	0.99
presumption	UTSW	14	21,290,599 (GRCm39)	missense	probably damaging	1.00
R0385:Adk	UTSW	14	21,368,142 (GRCm39)	missense	probably benign	0.01
R0463:Adk	UTSW	14	21,473,604 (GRCm39)	missense	probably benign	0.35
R0904:Adk	UTSW	14	21,142,496 (GRCm39)	missense	probably damaging	0.96
R1448:Adk	UTSW	14	21,102,708 (GRCm39)	start codon destroyed	probably null	0.00
R1695:Adk	UTSW	14	21,431,668 (GRCm39)	missense	probably benign	0.01
R4838:Adk	UTSW	14	21,419,154 (GRCm39)	missense	probably damaging	1.00
R5183:Adk	UTSW	14	21,290,599 (GRCm39)	missense	probably damaging	1.00
R5988:Adk	UTSW	14	21,473,616 (GRCm39)	missense	probably benign	0.03
R6770:Adk	UTSW	14	21,284,982 (GRCm39)	missense	probably damaging	0.99
R6932:Adk	UTSW	14	21,126,376 (GRCm39)	start codon destroyed	probably null	0.23
R7146:Adk	UTSW	14	21,376,682 (GRCm39)	missense
R7257:Adk	UTSW	14	21,102,739 (GRCm39)	missense	probably damaging	0.99
R7491:Adk	UTSW	14	21,284,997 (GRCm39)	missense	probably damaging	0.96
R7806:Adk	UTSW	14	21,376,679 (GRCm39)	missense
R7922:Adk	UTSW	14	21,368,111 (GRCm39)	missense	probably benign
R8465:Adk	UTSW	14	21,153,892 (GRCm39)	missense	possibly damaging	0.80
R9709:Adk	UTSW	14	21,126,386 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AAGCTGTATGGAGGTGACCG -3'
(R):5'- CAGTGTTAGAGAAATGTACACTGAG -3'

Sequencing Primer
(F):5'- GAGGTGACCGTTCTAATTTCATC -3'
(R):5'- TTATGCATTCCTAAACATACACACAG -3'

Posted On

2014-08-25