Mutagenetix > Incidental Mutation

Incidental Mutation 'R4570:Ak2'

342068

Institutional Source

Beutler Lab

Gene Symbol

Ak2

Ensembl Gene

ENSMUSG00000028792

Gene Name

adenylate kinase 2

Synonyms

D4Ertd220e, Ak-2

MMRRC Submission

041794-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R4570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128887017-128905322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128895960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 79 (V79A)

Ref Sequence

ENSEMBL: ENSMUSP00000099664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030583] [ENSMUST00000102604] [ENSMUST00000152762]

AlphaFold

Q9WTP6

Predicted Effect

probably damaging
Transcript: ENSMUST00000030583
AA Change: V79A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030583
Gene: ENSMUSG00000028792
AA Change: V79A

Domain	Start	End	E-Value	Type
Pfam:ADK	20	206	2.2e-62	PFAM
Pfam:ADK_lid	142	177	4.2e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102604
AA Change: V79A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099664
Gene: ENSMUSG00000028792
AA Change: V79A

Domain	Start	End	E-Value	Type
Pfam:ADK	20	206	2.3e-62	PFAM
Pfam:ADK_lid	142	177	9.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141982

Predicted Effect

probably benign
Transcript: ENSMUST00000152762

SMART Domains

Protein: ENSMUSP00000122284
Gene: ENSMUSG00000028792

Domain	Start	End	E-Value	Type
Pfam:ADK	17	72	9.3e-26	PFAM

Meta Mutation Damage Score

0.7423

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,842,528 (GRCm39)	D1154G	probably damaging	Het
Acsl5	T	A	19: 55,280,206 (GRCm39)	I493N	probably damaging	Het
Adgrf5	T	A	17: 43,756,006 (GRCm39)	S450T	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arfgef2	C	A	2: 166,698,458 (GRCm39)	Q643K	probably damaging	Het
Asap3	A	G	4: 135,967,496 (GRCm39)	D605G	probably damaging	Het
Ccr5	C	T	9: 123,924,912 (GRCm39)	Q172*	probably null	Het
Cpxm2	T	C	7: 131,745,435 (GRCm39)	D130G	probably benign	Het
Cspg4b	T	A	13: 113,454,725 (GRCm39)	V257D	probably damaging	Het
Cxcl12	T	C	6: 117,145,633 (GRCm39)	V6A	probably benign	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dzip1l	A	T	9: 99,529,221 (GRCm39)	K317*	probably null	Het
Edil3	A	G	13: 89,280,016 (GRCm39)		probably benign	Het
Enpep	A	T	3: 129,075,197 (GRCm39)	I707K	possibly damaging	Het
Fcrlb	A	G	1: 170,740,189 (GRCm39)		probably null	Het
Flt1	C	T	5: 147,531,423 (GRCm39)	A847T	probably damaging	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gemin6	C	T	17: 80,535,498 (GRCm39)	R153*	probably null	Het
Gldc	T	A	19: 30,151,839 (GRCm39)	M112L	probably benign	Het
Gm10267	C	T	18: 44,289,492 (GRCm39)	M79I	probably benign	Het
Gm10803	A	G	2: 93,394,597 (GRCm39)	Y123C	unknown	Het
Gm28040	C	A	1: 133,257,119 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,056,570 (GRCm39)		noncoding transcript	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Hba-a2	T	C	11: 32,247,200 (GRCm39)	Y141H	probably damaging	Het
Hmbox1	T	A	14: 65,061,111 (GRCm39)	I388F	possibly damaging	Het
Hs6st1	G	T	1: 36,142,628 (GRCm39)	V188L	possibly damaging	Het
Ipmk	T	G	10: 71,208,569 (GRCm39)	H118Q	probably benign	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Kcna2	A	G	3: 107,012,111 (GRCm39)	I231V	probably benign	Het
Kcnh7	T	C	2: 62,667,439 (GRCm39)	T367A	possibly damaging	Het
Kcp	A	T	6: 29,491,847 (GRCm39)	C197*	probably null	Het
Klra2	C	A	6: 131,220,900 (GRCm39)	C54F	probably damaging	Het
Lcn9	T	C	2: 25,713,591 (GRCm39)	L39P	probably benign	Het
Lct	T	C	1: 128,227,641 (GRCm39)	N1284S	probably benign	Het
Map6	T	G	7: 98,985,763 (GRCm39)	S556A	possibly damaging	Het
Mdn1	C	A	4: 32,741,812 (GRCm39)	T3861K	probably damaging	Het
Mrps12	A	G	7: 28,439,388 (GRCm39)	L109P	probably damaging	Het
Mucl3	T	C	17: 35,948,883 (GRCm39)	T239A	possibly damaging	Het
Mybphl	G	A	3: 108,272,347 (GRCm39)	C12Y	possibly damaging	Het
Nek9	T	C	12: 85,367,508 (GRCm39)	K388E	probably damaging	Het
Nvl	A	G	1: 180,971,647 (GRCm39)	V9A	probably benign	Het
Obscn	T	C	11: 58,897,654 (GRCm39)		probably null	Het
Or2h2	T	C	17: 37,396,471 (GRCm39)	I195M	probably damaging	Het
Pik3c3	T	A	18: 30,423,603 (GRCm39)	I233N	possibly damaging	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Ppara	A	G	15: 85,671,398 (GRCm39)	I100V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,546,156 (GRCm39)		noncoding transcript	Het
Scmh1	T	A	4: 120,385,495 (GRCm39)	H623Q	probably damaging	Het
Scn9a	A	G	2: 66,313,902 (GRCm39)	S1939P	possibly damaging	Het
Slc6a13	T	C	6: 121,313,101 (GRCm39)		probably null	Het
Slc7a4	G	A	16: 17,392,141 (GRCm39)	T431I	probably benign	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Spopl	T	A	2: 23,427,497 (GRCm39)	K212*	probably null	Het
Strn	T	A	17: 78,984,801 (GRCm39)	T281S	possibly damaging	Het
Supt3	T	A	17: 45,352,116 (GRCm39)	L265*	probably null	Het
Taf5l	G	A	8: 124,724,289 (GRCm39)	T510M	probably damaging	Het
Tapbp	C	A	17: 34,145,427 (GRCm39)	D415E	probably damaging	Het
Tarbp1	A	T	8: 127,178,972 (GRCm39)	D702E	probably benign	Het
Tfap2c	C	A	2: 172,399,247 (GRCm39)	P473Q	probably damaging	Het
Tnc	T	C	4: 63,913,909 (GRCm39)	N1301S	probably damaging	Het
Trim33	A	G	3: 103,237,481 (GRCm39)	Q179R	probably damaging	Het
Txnrd2	A	G	16: 18,287,554 (GRCm39)	N335S	probably benign	Het
Uggt1	T	A	1: 36,189,154 (GRCm39)	D1444V	probably damaging	Het
Ugt3a1	T	C	15: 9,338,807 (GRCm39)	L57P	probably benign	Het
Vmn2r6	A	T	3: 64,467,068 (GRCm39)	W144R	probably benign	Het
Vmn2r98	T	A	17: 19,286,354 (GRCm39)	M284K	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	Het
Zfp703	T	C	8: 27,468,981 (GRCm39)	V215A	probably benign	Het

Other mutations in Ak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02279:Ak2	APN	4	128,893,030 (GRCm39)	missense	probably benign	0.01
IGL03068:Ak2	APN	4	128,901,819 (GRCm39)	splice site	probably benign
R0587:Ak2	UTSW	4	128,896,171 (GRCm39)	missense	probably damaging	1.00
R1464:Ak2	UTSW	4	128,896,152 (GRCm39)	splice site	probably benign
R1727:Ak2	UTSW	4	128,901,556 (GRCm39)	missense	probably damaging	1.00
R1878:Ak2	UTSW	4	128,895,960 (GRCm39)	missense	probably damaging	1.00
R2002:Ak2	UTSW	4	128,902,022 (GRCm39)	missense	probably benign	0.00
R2030:Ak2	UTSW	4	128,902,013 (GRCm39)	missense	probably benign	0.00
R2061:Ak2	UTSW	4	128,901,990 (GRCm39)	missense	probably damaging	0.99
R5108:Ak2	UTSW	4	128,896,034 (GRCm39)	missense	probably damaging	0.98
R5386:Ak2	UTSW	4	128,901,965 (GRCm39)	missense	probably benign	0.41
R5667:Ak2	UTSW	4	128,902,040 (GRCm39)	missense	probably damaging	1.00
R5671:Ak2	UTSW	4	128,902,040 (GRCm39)	missense	probably damaging	1.00
R6190:Ak2	UTSW	4	128,892,976 (GRCm39)	missense	probably damaging	1.00
R6936:Ak2	UTSW	4	128,893,005 (GRCm39)	missense	probably damaging	1.00
R7584:Ak2	UTSW	4	128,893,005 (GRCm39)	missense	probably damaging	1.00
R9424:Ak2	UTSW	4	128,896,195 (GRCm39)	missense	possibly damaging	0.93
R9742:Ak2	UTSW	4	128,901,961 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- AAATTGACATGGAGGCCCC -3'
(R):5'- TCTCCATGAGGTCATCAAGCTG -3'

Sequencing Primer
(F):5'- ATGGAGGCCCCCGACATTTC -3'
(R):5'- TGTGACCCACCTAAGCTTGATCAG -3'

Posted On

2015-09-24