Mutagenetix > Incidental Mutation

Incidental Mutation 'R1448:Adk'

159073

Institutional Source

Beutler Lab

Gene Symbol

Adk

Ensembl Gene

ENSMUSG00000039197

Gene Name

adenosine kinase

Synonyms

2310026J05Rik, 5033405D03Rik, AK

MMRRC Submission

039503-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1448 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

21102642-21498637 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 21102708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000047665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022371] [ENSMUST00000045376] [ENSMUST00000126536] [ENSMUST00000130291] [ENSMUST00000130370] [ENSMUST00000154460] [ENSMUST00000223915] [ENSMUST00000224899] [ENSMUST00000224016]

AlphaFold

P55264

Predicted Effect

probably benign
Transcript: ENSMUST00000022371

SMART Domains

Protein: ENSMUSP00000022371
Gene: ENSMUSG00000021824

Domain	Start	End	E-Value	Type
SCOP:d1gw5m2	1	96	1e-23	SMART
Pfam:Adap_comp_sub	111	364	9.1e-77	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000045376
AA Change: M1K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047665
Gene: ENSMUSG00000039197
AA Change: M1K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126536

SMART Domains

Protein: ENSMUSP00000116046
Gene: ENSMUSG00000021824

Domain	Start	End	E-Value	Type
SCOP:d1gw5m2	1	91	9e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130291

SMART Domains

Protein: ENSMUSP00000118259
Gene: ENSMUSG00000021824

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	138	9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130370

SMART Domains

Protein: ENSMUSP00000115157
Gene: ENSMUSG00000021824

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	138	1.6e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148886

Predicted Effect

probably benign
Transcript: ENSMUST00000154460

SMART Domains

Protein: ENSMUSP00000117346
Gene: ENSMUSG00000021824

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	136	1.8e-8	PFAM
Pfam:Adap_comp_sub	165	418	1e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156716

Predicted Effect

probably null
Transcript: ENSMUST00000223915

Predicted Effect

probably benign
Transcript: ENSMUST00000224899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223861

Predicted Effect

probably benign
Transcript: ENSMUST00000224016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225742

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.6%
20x: 87.0%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	T	A	7: 107,223,952 (GRCm39)		probably benign	Het
A1cf	A	T	19: 31,886,196 (GRCm39)	N35I	possibly damaging	Het
Abca2	T	C	2: 25,330,542 (GRCm39)	I1106T	possibly damaging	Het
Abca4	G	A	3: 121,956,577 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,581,632 (GRCm39)	D4804G	probably benign	Het
Aff3	T	C	1: 38,230,364 (GRCm39)	N1006D	probably damaging	Het
Akap12	A	G	10: 4,305,475 (GRCm39)	T762A	probably benign	Het
Atosa	C	G	9: 74,917,456 (GRCm39)	S685*	probably null	Het
Atp12a	T	A	14: 56,623,296 (GRCm39)	M843K	probably damaging	Het
Bbx	T	A	16: 50,086,633 (GRCm39)	K169*	probably null	Het
Bicra	A	T	7: 15,722,284 (GRCm39)	V411E	possibly damaging	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Cel	T	C	2: 28,446,338 (GRCm39)	Y511C	probably damaging	Het
Celf4	G	T	18: 25,636,140 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,436,646 (GRCm39)	N310S	probably benign	Het
Col6a3	T	C	1: 90,709,577 (GRCm39)	K1873R	unknown	Het
Cstf1	A	G	2: 172,217,795 (GRCm39)	D136G	probably damaging	Het
Cwc22	T	A	2: 77,741,899 (GRCm39)	E470D	probably damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Cytip	A	G	2: 58,035,192 (GRCm39)	I168T	probably damaging	Het
D5Ertd579e	A	G	5: 36,760,083 (GRCm39)	L1359P	probably benign	Het
Ddx25	A	C	9: 35,469,034 (GRCm39)	V26G	probably benign	Het
Dennd4a	T	A	9: 64,813,327 (GRCm39)	S1429T	possibly damaging	Het
Dmd	A	G	X: 83,892,306 (GRCm39)	D2990G	probably damaging	Het
Dop1a	C	A	9: 86,424,785 (GRCm39)		probably null	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Fabp6	T	A	11: 43,486,992 (GRCm39)	I112F	probably benign	Het
Fbxw10	T	C	11: 62,738,418 (GRCm39)	V104A	possibly damaging	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Grin3a	T	C	4: 49,702,804 (GRCm39)	Y894C	probably damaging	Het
Hydin	C	T	8: 111,173,217 (GRCm39)	H967Y	probably benign	Het
Ip6k3	T	C	17: 27,364,242 (GRCm39)	K269E	possibly damaging	Het
Jup	T	C	11: 100,274,026 (GRCm39)	K172E	probably damaging	Het
Katnal1	T	C	5: 148,841,486 (GRCm39)	D126G	probably benign	Het
Knl1	A	T	2: 118,898,788 (GRCm39)	K163M	probably damaging	Het
Krt17	C	T	11: 100,148,365 (GRCm39)	E359K	possibly damaging	Het
Lct	T	A	1: 128,235,559 (GRCm39)	I483F	probably damaging	Het
Loxl2	G	A	14: 69,930,489 (GRCm39)	G751D	probably damaging	Het
Ltbp4	G	A	7: 27,006,002 (GRCm39)	R1559C	possibly damaging	Het
Man2c1	T	A	9: 57,042,503 (GRCm39)	D183E	probably benign	Het
Med17	T	C	9: 15,187,139 (GRCm39)		probably null	Het
Mrgpra9	A	C	7: 46,885,561 (GRCm39)	S34R	probably benign	Het
Mrpl44	T	A	1: 79,755,677 (GRCm39)	N94K	probably damaging	Het
Nat8f1	A	G	6: 85,887,924 (GRCm39)	V12A	probably benign	Het
Nr2e3	C	A	9: 59,850,797 (GRCm39)	G354V	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup155	T	C	15: 8,141,890 (GRCm39)	V94A	probably benign	Het
Or14a256	A	T	7: 86,265,569 (GRCm39)	C95S	probably damaging	Het
Or52h2	C	T	7: 103,839,082 (GRCm39)	V111I	possibly damaging	Het
Or5p76	T	C	7: 108,122,525 (GRCm39)	I211V	probably benign	Het
Or9q2	A	T	19: 13,772,140 (GRCm39)	Y278*	probably null	Het
Pcdhb10	A	T	18: 37,545,556 (GRCm39)	I211F	possibly damaging	Het
Phip	A	C	9: 82,797,476 (GRCm39)	I509S	possibly damaging	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Psme4	T	G	11: 30,802,744 (GRCm39)	L1487R	probably damaging	Het
Ptgdr2	A	G	19: 10,917,857 (GRCm39)	S125G	probably damaging	Het
Ptpro	A	G	6: 137,418,114 (GRCm39)	K126E	probably damaging	Het
Rdh16f2	T	A	10: 127,712,794 (GRCm39)	V264E	probably benign	Het
Ric8b	C	T	10: 84,783,535 (GRCm39)	A131V	possibly damaging	Het
Rock1	A	T	18: 10,070,233 (GRCm39)	I1280N	probably damaging	Het
Rprd2	A	G	3: 95,725,888 (GRCm39)	V59A	possibly damaging	Het
Ruvbl1	T	A	6: 88,444,551 (GRCm39)	C49S	probably benign	Het
Scn2a	A	G	2: 65,514,189 (GRCm39)	N291S	probably benign	Het
Serbp1	T	A	6: 67,254,904 (GRCm39)	H325Q	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Shisal2b	T	C	13: 104,982,470 (GRCm39)	I151V	probably benign	Het
Slitrk3	G	A	3: 72,957,674 (GRCm39)	T366I	probably damaging	Het
Spryd3	A	T	15: 102,026,827 (GRCm39)	H307Q	possibly damaging	Het
Spx	A	T	6: 142,364,239 (GRCm39)	D100V	probably benign	Het
Surf4	A	G	2: 26,814,476 (GRCm39)	F142L	probably damaging	Het
Syne2	T	A	12: 76,067,099 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,952 (GRCm39)	M5278T	possibly damaging	Het
Thap12	T	C	7: 98,365,230 (GRCm39)	V466A	probably benign	Het
Thap3	T	C	4: 152,067,673 (GRCm39)	K135R	possibly damaging	Het
Tmem131	G	T	1: 36,866,439 (GRCm39)	D448E	probably benign	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Trim43a	G	T	9: 88,464,146 (GRCm39)	C19F	probably damaging	Het
Trp63	C	T	16: 25,707,870 (GRCm39)	P526L	possibly damaging	Het
Ubqln3	T	C	7: 103,791,997 (GRCm39)	D31G	probably damaging	Het
Utp14b	C	A	1: 78,643,162 (GRCm39)	N353K	probably damaging	Het
Vmn1r40	A	G	6: 89,691,558 (GRCm39)	K125R	probably damaging	Het
Vmn2r1	A	G	3: 64,008,734 (GRCm39)	Y471C	probably damaging	Het
Vmn2r13	A	G	5: 109,322,001 (GRCm39)	I232T	probably damaging	Het
Zfp263	A	C	16: 3,564,323 (GRCm39)	E204D	probably benign	Het
Zfp865	A	T	7: 5,032,278 (GRCm39)	K88*	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
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
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'- AGCAGATTGCCTGACTAGCAGC -3'
(R):5'- ATGCACCTGAGCAGAGTCCAGAAC -3'

Sequencing Primer
(F):5'- GAGGTTGAAGATCTGACTCTTCCAC -3'
(R):5'- GAACAGCAGCTACGCGG -3'

Posted On

2014-03-14