Mutagenetix > Incidental Mutation

Incidental Mutation 'R6932:Adk'

540123

Institutional Source

Beutler Lab

Gene Symbol

Adk

Ensembl Gene

ENSMUSG00000039197

Gene Name

adenosine kinase

Synonyms

2310026J05Rik, 5033405D03Rik, AK

MMRRC Submission

045047-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6932 (G1)

Quality Score

178.009

Status

Validated

Chromosome

Chromosomal Location

21102642-21498637 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 21126376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000153089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045376] [ENSMUST00000223915] [ENSMUST00000224069] [ENSMUST00000224899]

AlphaFold

P55264

Predicted Effect

probably benign
Transcript: ENSMUST00000045376

SMART Domains

Protein: ENSMUSP00000047665
Gene: ENSMUSG00000039197

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223915

Predicted Effect

probably null
Transcript: ENSMUST00000224069
AA Change: M1V

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000224899

Meta Mutation Damage Score

0.6472

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

98% (80/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,250,331 (GRCm39)	F198I	probably damaging	Het
Acy1	A	G	9: 106,314,826 (GRCm39)		probably null	Het
Ahi1	A	G	10: 20,839,590 (GRCm39)	D167G	probably benign	Het
Ankrd16	T	C	2: 11,791,054 (GRCm39)	V290A	possibly damaging	Het
Arhgef5	T	A	6: 43,251,351 (GRCm39)	S701T	possibly damaging	Het
Atp13a5	C	A	16: 29,100,769 (GRCm39)	M673I	probably damaging	Het
BC005624	T	C	2: 30,868,940 (GRCm39)	D78G	possibly damaging	Het
Bcat2	C	T	7: 45,238,745 (GRCm39)	H347Y	probably damaging	Het
Bpifb4	A	G	2: 153,784,547 (GRCm39)	Y85C	possibly damaging	Het
Cdc42	T	A	4: 137,049,932 (GRCm39)		probably null	Het
Cep170	G	A	1: 176,589,003 (GRCm39)	L541F	possibly damaging	Het
Cfap97d2	CA	CAA	8: 13,784,865 (GRCm39)		probably null	Het
Cgrrf1	T	A	14: 47,091,179 (GRCm39)	N234K	probably benign	Het
Ctrc	C	T	4: 141,568,879 (GRCm39)	C108Y	probably damaging	Het
Cyp2u1	C	T	3: 131,091,945 (GRCm39)	V192M	possibly damaging	Het
Dhx38	A	T	8: 110,279,307 (GRCm39)	L1013Q	probably damaging	Het
Dnah1	T	A	14: 31,009,733 (GRCm39)	N1945I	probably damaging	Het
Dnah10	C	G	5: 124,898,514 (GRCm39)	N3765K	possibly damaging	Het
Dnah17	C	A	11: 117,950,905 (GRCm39)	R2906L	possibly damaging	Het
Dnajc10	C	T	2: 80,161,680 (GRCm39)	T306I	probably benign	Het
Efemp2	T	A	19: 5,530,273 (GRCm39)	C287S	probably damaging	Het
Efna1	T	C	3: 89,180,091 (GRCm39)	R143G	probably benign	Het
Emilin1	A	C	5: 31,074,421 (GRCm39)	N221H	probably damaging	Het
Epg5	A	G	18: 77,991,824 (GRCm39)	T174A	probably benign	Het
Fam184b	T	A	5: 45,690,243 (GRCm39)		probably null	Het
Fchsd2	T	A	7: 100,926,621 (GRCm39)	C570*	probably null	Het
Gm4787	A	T	12: 81,425,974 (GRCm39)	D61E	probably benign	Het
Gm7356	C	T	17: 14,221,925 (GRCm39)	G35R	probably damaging	Het
Gm8220	A	G	14: 44,525,645 (GRCm39)	T20A	probably damaging	Het
Hivep2	C	T	10: 14,004,245 (GRCm39)	T281M	probably damaging	Het
Ighv2-9-1	A	G	12: 113,733,692 (GRCm39)	V43A	probably damaging	Het
Klhl33	A	T	14: 51,129,373 (GRCm39)	C619S	probably benign	Het
Kmt2a	A	T	9: 44,740,558 (GRCm39)		probably benign	Het
Lax1	A	G	1: 133,607,896 (GRCm39)	C282R	probably benign	Het
Lrrd1	A	G	5: 3,901,395 (GRCm39)	K567E	probably benign	Het
Luzp1	C	T	4: 136,268,124 (GRCm39)	R116*	probably null	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Macrod2	A	T	2: 140,261,833 (GRCm39)	N38I	probably damaging	Het
Map3k14	A	T	11: 103,132,958 (GRCm39)	I80N	probably damaging	Het
Mcm9	A	G	10: 53,496,299 (GRCm39)	S368P	probably benign	Het
Mfge8	T	C	7: 78,793,049 (GRCm39)	D139G	probably benign	Het
Mmp19	A	T	10: 128,627,523 (GRCm39)	I54F	probably benign	Het
Myo15a	G	T	11: 60,390,320 (GRCm39)	W2114L	probably damaging	Het
Myo1a	G	T	10: 127,546,327 (GRCm39)	V277L	probably benign	Het
Myoc	A	G	1: 162,466,915 (GRCm39)	D28G	probably damaging	Het
Myrf	G	T	19: 10,196,924 (GRCm39)	N487K	probably damaging	Het
Omd	T	A	13: 49,743,710 (GRCm39)	F253L	probably damaging	Het
Or2ag19	G	T	7: 106,444,009 (GRCm39)	G64*	probably null	Het
Or5t5	C	G	2: 86,616,499 (GRCm39)	L142V	probably damaging	Het
Or6n1	G	A	1: 173,917,316 (GRCm39)	A237T	probably damaging	Het
Papss1	T	G	3: 131,305,732 (GRCm39)	I238S	probably damaging	Het
Pkhd1	A	T	1: 20,632,675 (GRCm39)	F580Y	probably benign	Het
Polk	T	A	13: 96,653,189 (GRCm39)	K70N	probably damaging	Het
Ppig	T	A	2: 69,562,755 (GRCm39)	D31E	probably benign	Het
Ppp6r1	G	T	7: 4,636,291 (GRCm39)	S766R	possibly damaging	Het
Rab11fip5	T	C	6: 85,318,540 (GRCm39)	D783G	probably benign	Het
Reln	T	C	5: 22,190,855 (GRCm39)	I1511V	probably benign	Het
Rnh1	T	C	7: 140,743,096 (GRCm39)	N268S	probably damaging	Het
Rpia	A	G	6: 70,750,424 (GRCm39)	V236A	probably benign	Het
Rpl10a	G	T	17: 28,548,424 (GRCm39)	V80L	probably benign	Het
Sap130	T	G	18: 31,799,407 (GRCm39)	S295A	possibly damaging	Het
Sgms1	C	T	19: 32,120,193 (GRCm39)	V238I	probably benign	Het
Sh3tc1	A	G	5: 35,864,778 (GRCm39)	S470P	probably benign	Het
Slc25a32	A	G	15: 38,960,984 (GRCm39)	V233A	possibly damaging	Het
Slc2a2	T	C	3: 28,771,668 (GRCm39)	S158P	probably benign	Het
Slc6a2	A	G	8: 93,722,653 (GRCm39)	Y550C	probably benign	Het
Slc7a9	C	A	7: 35,151,936 (GRCm39)	T77K	probably benign	Het
Snd1	A	T	6: 28,626,100 (GRCm39)	D385V	probably benign	Het
Ssh3	A	T	19: 4,314,448 (GRCm39)	F369I	probably damaging	Het
Syk	A	G	13: 52,766,495 (GRCm39)		probably null	Het
Tbc1d16	A	G	11: 119,099,742 (GRCm39)	S211P	probably damaging	Het
Ttc3	A	G	16: 94,244,312 (GRCm39)	T1439A	probably benign	Het
Usp18	A	G	6: 121,229,473 (GRCm39)	M31V	probably benign	Het
Vav1	G	T	17: 57,609,330 (GRCm39)	E415D	possibly damaging	Het
Vps13a	A	T	19: 16,655,439 (GRCm39)	V1863D	probably benign	Het
Xdh	T	A	17: 74,229,557 (GRCm39)	I299F	probably damaging	Het
Zc3h14	A	G	12: 98,737,336 (GRCm39)		probably benign	Het
Zfp345	G	A	2: 150,315,331 (GRCm39)	H69Y	probably damaging	Het
Zfp652	G	T	11: 95,654,667 (GRCm39)	V357L	probably benign	Het
Zfp712	A	T	13: 67,188,891 (GRCm39)	Y545*	probably null	Het
Zgrf1	T	C	3: 127,353,281 (GRCm39)		probably null	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
R2048:Adk	UTSW	14	21,368,244 (GRCm39)	missense	probably damaging	1.00
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
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'- GTTACCAGGACTCAAGATGGCC -3'
(R):5'- AGCGCCTTCTGCTACTAATGC -3'

Sequencing Primer
(F):5'- ACTCAAGATGGCCACCGTG -3'
(R):5'- CTGCTACTAATGCAAAAACTTCGG -3'

Posted On

2018-11-06