Mutagenetix > Incidental Mutation

Incidental Mutation 'R7806:Adk'

600811

Institutional Source

Beutler Lab

Gene Symbol

Adk

Ensembl Gene

ENSMUSG00000039197

Gene Name

adenosine kinase

Synonyms

2310026J05Rik, 5033405D03Rik, AK

MMRRC Submission

045861-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21102642-21498637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21376679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 26 (N26S)

Gene Model

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

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 benign
Transcript: ENSMUST00000224069

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (83/85)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 125,569,143 (GRCm39)	V144F	probably benign	Het
Aar2	T	A	2: 156,393,031 (GRCm39)	I140N	possibly damaging	Het
Abca15	A	G	7: 119,932,059 (GRCm39)	N104S	probably damaging	Het
Adam22	A	T	5: 8,142,825 (GRCm39)	N803K	probably damaging	Het
Ak9	A	C	10: 41,309,080 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,482,487 (GRCm39)	D40G	probably benign	Het
Ankrd65	A	T	4: 155,877,437 (GRCm39)	H316L	probably benign	Het
Cabp7	C	T	11: 4,688,889 (GRCm39)	A194T	probably damaging	Het
Ccdc180	A	C	4: 45,912,801 (GRCm39)	K593N	possibly damaging	Het
Cd80	A	G	16: 38,294,315 (GRCm39)	D66G	probably benign	Het
Cdh5	T	C	8: 104,867,448 (GRCm39)	V575A	probably damaging	Het
Cep350	T	C	1: 155,737,809 (GRCm39)	Q2678R	probably benign	Het
Cideb	G	A	14: 55,992,625 (GRCm39)	T97M	probably damaging	Het
Clca4b	T	C	3: 144,638,157 (GRCm39)	D35G	probably benign	Het
Clpx	T	C	9: 65,207,213 (GRCm39)	V37A	probably benign	Het
Cmya5	A	C	13: 93,230,770 (GRCm39)	S1439R	probably benign	Het
Cndp2	T	A	18: 84,688,945 (GRCm39)	H279L	probably benign	Het
Cngb1	A	T	8: 96,025,432 (GRCm39)		probably null	Het
Cpq	T	A	15: 33,497,443 (GRCm39)	N394K	possibly damaging	Het
Dedd	T	C	1: 171,166,062 (GRCm39)	L60P	probably benign	Het
Dennd3	C	A	15: 73,442,624 (GRCm39)	L1216M	possibly damaging	Het
Dntt	A	T	19: 41,018,071 (GRCm39)	N65I	probably benign	Het
Fap	T	A	2: 62,333,758 (GRCm39)	E662V	probably damaging	Het
Fasn	A	T	11: 120,700,821 (GRCm39)	M2066K	probably benign	Het
Fggy	G	A	4: 95,489,203 (GRCm39)	G69E	probably benign	Het
Foxc1	G	T	13: 31,992,739 (GRCm39)	G517C	unknown	Het
Gas2l3	A	G	10: 89,249,232 (GRCm39)	Y629H	probably benign	Het
Gcnt2	A	G	13: 41,071,717 (GRCm39)	N120S	probably damaging	Het
Gfpt2	A	G	11: 49,714,142 (GRCm39)	T300A	probably benign	Het
Glud1	A	G	14: 34,065,606 (GRCm39)	R535G	probably damaging	Het
Gm3248	T	A	14: 5,943,883 (GRCm38)	I114L	probably benign	Het
Gm3278	G	A	14: 16,082,211 (GRCm39)		probably null	Het
Gm3402	A	C	5: 146,451,090 (GRCm39)	K44Q	probably damaging	Het
Gm3696	C	G	14: 18,433,094 (GRCm39)	R188S	probably benign	Het
Gm3696	C	A	14: 18,433,095 (GRCm39)	R188M	probably benign	Het
Gmppa	T	C	1: 75,415,581 (GRCm39)	L113P	probably damaging	Het
Gmps	A	G	3: 63,890,091 (GRCm39)		probably null	Het
Gnal	T	A	18: 67,346,145 (GRCm39)	M275K	probably damaging	Het
Gopc	G	C	10: 52,229,525 (GRCm39)	N231K	probably damaging	Het
Gpr152	T	C	19: 4,193,487 (GRCm39)	S343P	probably benign	Het
Gpr17	T	C	18: 32,080,593 (GRCm39)	I157V	probably benign	Het
Grm7	T	A	6: 111,223,314 (GRCm39)	Y451*	probably null	Het
Ikbke	T	C	1: 131,199,635 (GRCm39)	E286G	probably damaging	Het
Inpp5b	A	T	4: 124,678,881 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,818,765 (GRCm39)	L664F	probably benign	Het
Kif17	A	G	4: 138,015,507 (GRCm39)	E552G	possibly damaging	Het
Lamtor1	T	A	7: 101,555,220 (GRCm39)	Y5*	probably null	Het
Lpin2	A	G	17: 71,552,166 (GRCm39)	I829V	probably damaging	Het
Lrg1	T	G	17: 56,426,967 (GRCm39)	D335A	probably benign	Het
Lrriq3	T	C	3: 154,804,444 (GRCm39)	Y35H	probably damaging	Het
Mkx	T	A	18: 7,000,607 (GRCm39)	M112L	probably benign	Het
Mlxipl	A	C	5: 135,163,397 (GRCm39)	D760A	possibly damaging	Het
Muc6	T	C	7: 141,217,387 (GRCm39)	T2429A	possibly damaging	Het
N4bp2l2	A	G	5: 150,566,715 (GRCm39)	C134R	unknown	Het
Nanos1	A	G	19: 60,744,972 (GRCm39)	E90G	probably benign	Het
Nckap1	T	C	2: 80,371,843 (GRCm39)	D329G	probably damaging	Het
Or13a18	T	C	7: 140,190,685 (GRCm39)	I194T	probably benign	Het
Or14j9	A	C	17: 37,875,112 (GRCm39)	L30R	probably damaging	Het
Or8b12c	T	C	9: 37,715,872 (GRCm39)	S222P	probably damaging	Het
Or8g51	G	T	9: 38,609,567 (GRCm39)	L32I	probably benign	Het
Osbpl7	A	G	11: 96,946,954 (GRCm39)	H419R	probably benign	Het
Otog	C	T	7: 45,935,200 (GRCm39)	T1395I	probably benign	Het
Pigq	T	A	17: 26,150,700 (GRCm39)	I451F	probably benign	Het
Ptgfrn	A	G	3: 100,984,448 (GRCm39)	V248A	possibly damaging	Het
Rdh19	G	T	10: 127,692,740 (GRCm39)	V136L	probably damaging	Het
Rfesd	T	C	13: 76,156,308 (GRCm39)	T33A	possibly damaging	Het
Rnf213	G	A	11: 119,302,371 (GRCm39)	V432M		Het
Rpl22l1	T	A	3: 28,860,962 (GRCm39)	L60Q	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Samd3	A	G	10: 26,120,425 (GRCm39)	T140A	probably benign	Het
Sbf1	A	G	15: 89,189,623 (GRCm39)	V419A	possibly damaging	Het
Serpinb6a	T	C	13: 34,119,548 (GRCm39)		probably null	Het
Slc22a4	A	G	11: 53,881,476 (GRCm39)	L414P	probably damaging	Het
Smarcd3	A	T	5: 24,798,260 (GRCm39)	V420D	probably benign	Het
Tcaim	A	G	9: 122,663,995 (GRCm39)	D495G	probably damaging	Het
Tep1	A	G	14: 51,074,266 (GRCm39)	V1873A	possibly damaging	Het
Tmcc2	T	C	1: 132,288,527 (GRCm39)	N387D	probably damaging	Het
Tmed8	A	T	12: 87,219,204 (GRCm39)	I322N	probably damaging	Het
Tmod4	A	C	3: 95,034,915 (GRCm39)	D168A	probably benign	Het
Trgc2	A	T	13: 19,491,390 (GRCm39)		probably benign	Het
Trp53bp1	C	T	2: 121,035,542 (GRCm39)	E1520K	probably damaging	Het
Trpv5	T	A	6: 41,651,867 (GRCm39)	I183F	probably damaging	Het
Vmn2r70	A	T	7: 85,208,401 (GRCm39)	I692K	probably benign	Het
Vmn2r87	T	A	10: 130,315,679 (GRCm39)	Y129F	probably benign	Het
Vps8	A	G	16: 21,278,501 (GRCm39)	D253G	probably damaging	Het
Ythdc2	T	C	18: 44,977,353 (GRCm39)	I383T	possibly damaging	Het
Ythdc2	T	C	18: 44,983,491 (GRCm39)	S553P	probably benign	Het
Zfyve26	A	G	12: 79,327,129 (GRCm39)		probably null	Het
Zic1	G	A	9: 91,247,024 (GRCm39)	T16I	probably 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
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
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
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'- TTAAGGCAGTCCCAGAATCTCA -3'
(R):5'- GTTGGGAAGAACAGAAAATTCATCT -3'

Sequencing Primer
(F):5'- AGAGGTACTATTTCAGGGTGAATTCC -3'
(R):5'- GACGGCAATGTTTTAGAAGC -3'

Posted On

2019-11-26