Mutagenetix > Incidental Mutation

Incidental Mutation 'R5595:Alpk2'

437804

Institutional Source

Beutler Lab

Gene Symbol

Alpk2

Ensembl Gene

ENSMUSG00000032845

Gene Name

alpha-kinase 2

Synonyms

Hak

MMRRC Submission

043147-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5595 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65398600-65526959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65399319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2086 (D2086E)

Ref Sequence

ENSEMBL: ENSMUSP00000048752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035548]

AlphaFold

Q91ZB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000035548
AA Change: D2086E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048752
Gene: ENSMUSG00000032845
AA Change: D2086E

Domain	Start	End	E-Value	Type
IGc2	24	94	9.34e-4	SMART
low complexity region	196	209	N/A	INTRINSIC
low complexity region	722	734	N/A	INTRINSIC
low complexity region	1025	1037	N/A	INTRINSIC
low complexity region	1337	1353	N/A	INTRINSIC
IG	1766	1849	2.27e-2	SMART
Alpha_kinase	1879	2098	3.72e-79	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,682,143 (GRCm39)	F991S	probably benign	Het
4931406B18Rik	A	G	7: 43,147,296 (GRCm39)	I218T	possibly damaging	Het
9930111J21Rik2	C	T	11: 48,910,538 (GRCm39)	A632T	possibly damaging	Het
Akt1	A	T	12: 112,625,050 (GRCm39)	L166Q	probably null	Het
Ankrd11	A	T	8: 123,621,043 (GRCm39)	C915*	probably null	Het
Ankrd44	T	C	1: 54,801,506 (GRCm39)	T274A	probably damaging	Het
Ankrd44	A	T	1: 54,774,209 (GRCm39)	I398K	probably damaging	Het
Arhgef2	A	G	3: 88,550,283 (GRCm39)	T663A	probably benign	Het
Btbd16	G	A	7: 130,425,033 (GRCm39)	M471I	possibly damaging	Het
Btbd16	C	A	7: 130,425,034 (GRCm39)	Q472K	probably damaging	Het
Cdc37	G	A	9: 21,054,509 (GRCm39)	R39C	probably damaging	Het
Cnnm1	A	G	19: 43,453,596 (GRCm39)	N537S	possibly damaging	Het
Cop1	T	A	1: 159,077,643 (GRCm39)	D159E	probably benign	Het
Crtac1	C	T	19: 42,402,390 (GRCm39)	V73I	probably benign	Het
Cryz	T	A	3: 154,312,155 (GRCm39)	V84E	probably damaging	Het
Ctnnd2	C	T	15: 30,669,689 (GRCm39)	L433F	probably benign	Het
Ctsq	C	A	13: 61,184,874 (GRCm39)	D271Y	probably benign	Het
Cyp3a25	A	C	5: 145,931,673 (GRCm39)		probably null	Het
Dmbt1	G	C	7: 130,655,797 (GRCm39)	W412C	probably benign	Het
Eif4e1b	G	A	13: 54,934,529 (GRCm39)	V131I	possibly damaging	Het
Epha1	A	G	6: 42,341,568 (GRCm39)	V494A	possibly damaging	Het
Fbxl4	T	C	4: 22,433,641 (GRCm39)	S593P	probably damaging	Het
Fbxo41	G	A	6: 85,456,883 (GRCm39)	P429S	probably benign	Het
Fem1al	T	C	11: 29,774,288 (GRCm39)	N390D	probably benign	Het
Fgfr3	G	A	5: 33,887,347 (GRCm39)	C204Y	probably damaging	Het
Gbf1	T	C	19: 46,272,861 (GRCm39)	V1665A	possibly damaging	Het
Htt	T	A	5: 35,062,741 (GRCm39)	V2825E	probably damaging	Het
Irs1	A	T	1: 82,267,646 (GRCm39)	V190E	probably damaging	Het
Kics2	T	C	10: 121,576,052 (GRCm39)		probably benign	Het
Klk1	T	C	7: 43,878,161 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,747,905 (GRCm39)		probably benign	Het
Meox1	T	C	11: 101,770,169 (GRCm39)	E186G	probably damaging	Het
Micu2	G	A	14: 58,209,201 (GRCm39)	R86W	probably damaging	Het
Mrgprb1	A	T	7: 48,097,432 (GRCm39)	I160K	probably damaging	Het
Nckap1l	T	A	15: 103,384,085 (GRCm39)	M561K	possibly damaging	Het
Or4c104	A	T	2: 88,586,749 (GRCm39)	I90N	probably damaging	Het
Or52s6	A	T	7: 103,091,635 (GRCm39)	S232T	probably damaging	Het
Or56b35	A	T	7: 104,963,213 (GRCm39)	M1L	probably benign	Het
Otoa	T	A	7: 120,721,200 (GRCm39)	L405H	probably damaging	Het
Phyhip	A	T	14: 70,704,314 (GRCm39)	M178L	probably benign	Het
Pkd1l3	A	T	8: 110,382,152 (GRCm39)	N1630I	probably damaging	Het
Plek2	T	A	12: 78,940,883 (GRCm39)	T247S	probably benign	Het
Rhbdl3	T	C	11: 80,228,409 (GRCm39)	V293A	probably damaging	Het
Rock2	T	A	12: 16,992,810 (GRCm39)	F193Y	probably damaging	Het
Scn3a	C	T	2: 65,291,057 (GRCm39)	M1896I	probably benign	Het
Snrnp200	T	C	2: 127,067,933 (GRCm39)	V810A	probably damaging	Het
Taar4	G	A	10: 23,836,639 (GRCm39)	S83N	probably damaging	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Tec	T	A	5: 72,926,087 (GRCm39)	I322F	possibly damaging	Het
Teddm2	T	C	1: 153,726,146 (GRCm39)	I190V	probably benign	Het
Tmem117	A	G	15: 94,992,765 (GRCm39)	E475G	probably damaging	Het
Trip10	T	A	17: 57,569,460 (GRCm39)	Y495N	probably damaging	Het
Ush2a	T	C	1: 188,638,695 (GRCm39)	V4035A	possibly damaging	Het
Utrn	C	T	10: 12,558,062 (GRCm39)	V1466M	possibly damaging	Het
Vasp	A	G	7: 18,991,816 (GRCm39)		probably benign	Het
Vmn1r89	A	T	7: 12,953,857 (GRCm39)	M130L	possibly damaging	Het
Vmn2r2	A	T	3: 64,034,036 (GRCm39)	D495E	possibly damaging	Het
Zfp213	A	G	17: 23,780,160 (GRCm39)	V120A	possibly damaging	Het

Other mutations in Alpk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Alpk2	APN	18	65,438,894 (GRCm39)	missense	probably benign	0.27
IGL00478:Alpk2	APN	18	65,440,297 (GRCm39)	nonsense	probably null
IGL00898:Alpk2	APN	18	65,483,644 (GRCm39)	missense	probably benign	0.29
IGL00978:Alpk2	APN	18	65,424,605 (GRCm39)	splice site	probably benign
IGL01093:Alpk2	APN	18	65,482,400 (GRCm39)	missense	probably damaging	0.98
IGL01094:Alpk2	APN	18	65,439,673 (GRCm39)	missense	probably damaging	0.96
IGL01109:Alpk2	APN	18	65,440,211 (GRCm39)	missense	probably benign	0.09
IGL01370:Alpk2	APN	18	65,483,662 (GRCm39)	missense	possibly damaging	0.56
IGL01393:Alpk2	APN	18	65,440,779 (GRCm39)	missense	possibly damaging	0.88
IGL01629:Alpk2	APN	18	65,433,113 (GRCm39)	missense	probably damaging	1.00
IGL01872:Alpk2	APN	18	65,437,824 (GRCm39)	missense	probably benign	0.01
IGL01983:Alpk2	APN	18	65,483,753 (GRCm39)	missense	probably damaging	1.00
IGL02294:Alpk2	APN	18	65,439,146 (GRCm39)	missense	possibly damaging	0.45
IGL02333:Alpk2	APN	18	65,482,551 (GRCm39)	missense	probably damaging	0.99
IGL02493:Alpk2	APN	18	65,483,402 (GRCm39)	missense	probably benign	0.02
IGL02551:Alpk2	APN	18	65,505,822 (GRCm39)	missense	probably damaging	1.00
IGL02864:Alpk2	APN	18	65,440,670 (GRCm39)	missense	probably benign	0.12
IGL02901:Alpk2	APN	18	65,439,482 (GRCm39)	missense	probably benign
IGL02954:Alpk2	APN	18	65,439,207 (GRCm39)	missense	probably benign
IGL03257:Alpk2	APN	18	65,482,945 (GRCm39)	missense	probably damaging	0.99
IGL03389:Alpk2	APN	18	65,437,937 (GRCm39)	missense	possibly damaging	0.92
3-1:Alpk2	UTSW	18	65,437,959 (GRCm39)	missense	probably damaging	0.99
PIT4131001:Alpk2	UTSW	18	65,439,450 (GRCm39)	missense	possibly damaging	0.84
R0098:Alpk2	UTSW	18	65,482,982 (GRCm39)	missense	probably damaging	1.00
R0098:Alpk2	UTSW	18	65,482,982 (GRCm39)	missense	probably damaging	1.00
R0414:Alpk2	UTSW	18	65,439,230 (GRCm39)	missense	probably benign	0.04
R0546:Alpk2	UTSW	18	65,439,788 (GRCm39)	missense	probably benign	0.05
R0628:Alpk2	UTSW	18	65,440,367 (GRCm39)	missense	possibly damaging	0.94
R0658:Alpk2	UTSW	18	65,482,558 (GRCm39)	missense	probably damaging	1.00
R0731:Alpk2	UTSW	18	65,438,461 (GRCm39)	missense	probably damaging	0.98
R0919:Alpk2	UTSW	18	65,440,544 (GRCm39)	missense	probably benign
R1069:Alpk2	UTSW	18	65,438,085 (GRCm39)	missense	probably benign	0.25
R1186:Alpk2	UTSW	18	65,427,412 (GRCm39)	critical splice acceptor site	probably null
R1508:Alpk2	UTSW	18	65,482,376 (GRCm39)	missense	probably damaging	1.00
R1535:Alpk2	UTSW	18	65,483,275 (GRCm39)	missense	probably benign
R1558:Alpk2	UTSW	18	65,483,301 (GRCm39)	missense	probably benign
R1600:Alpk2	UTSW	18	65,511,108 (GRCm39)	missense	probably damaging	0.96
R1664:Alpk2	UTSW	18	65,482,944 (GRCm39)	missense	probably damaging	0.96
R1672:Alpk2	UTSW	18	65,414,030 (GRCm39)	missense	probably damaging	1.00
R1829:Alpk2	UTSW	18	65,427,165 (GRCm39)	missense	possibly damaging	0.75
R2110:Alpk2	UTSW	18	65,440,151 (GRCm39)	missense	possibly damaging	0.94
R2111:Alpk2	UTSW	18	65,482,845 (GRCm39)	missense	probably benign
R2113:Alpk2	UTSW	18	65,438,754 (GRCm39)	missense	probably benign	0.31
R2126:Alpk2	UTSW	18	65,483,439 (GRCm39)	nonsense	probably null
R2198:Alpk2	UTSW	18	65,483,255 (GRCm39)	missense	probably benign	0.42
R2227:Alpk2	UTSW	18	65,511,147 (GRCm39)	missense	probably damaging	1.00
R2245:Alpk2	UTSW	18	65,438,234 (GRCm39)	missense	probably benign	0.02
R2282:Alpk2	UTSW	18	65,440,697 (GRCm39)	missense	probably benign
R2421:Alpk2	UTSW	18	65,439,687 (GRCm39)	missense	probably benign	0.00
R2512:Alpk2	UTSW	18	65,483,591 (GRCm39)	missense	probably damaging	0.96
R3105:Alpk2	UTSW	18	65,483,281 (GRCm39)	missense	possibly damaging	0.57
R3700:Alpk2	UTSW	18	65,438,222 (GRCm39)	missense	probably damaging	0.99
R4205:Alpk2	UTSW	18	65,438,282 (GRCm39)	missense	possibly damaging	0.76
R4239:Alpk2	UTSW	18	65,433,212 (GRCm39)	missense	probably damaging	1.00
R4353:Alpk2	UTSW	18	65,424,523 (GRCm39)	missense	possibly damaging	0.73
R4572:Alpk2	UTSW	18	65,414,075 (GRCm39)	missense	probably damaging	1.00
R4584:Alpk2	UTSW	18	65,440,035 (GRCm39)	missense	probably damaging	0.99
R4591:Alpk2	UTSW	18	65,438,894 (GRCm39)	missense	probably benign	0.27
R4595:Alpk2	UTSW	18	65,422,819 (GRCm39)	missense	probably damaging	1.00
R4648:Alpk2	UTSW	18	65,482,953 (GRCm39)	missense	probably damaging	0.99
R4815:Alpk2	UTSW	18	65,483,026 (GRCm39)	missense	probably damaging	1.00
R4828:Alpk2	UTSW	18	65,482,184 (GRCm39)	missense	probably benign
R4910:Alpk2	UTSW	18	65,399,357 (GRCm39)	nonsense	probably null
R5042:Alpk2	UTSW	18	65,483,579 (GRCm39)	nonsense	probably null
R5295:Alpk2	UTSW	18	65,438,109 (GRCm39)	missense	probably damaging	0.98
R5375:Alpk2	UTSW	18	65,505,809 (GRCm39)	missense	probably damaging	1.00
R5475:Alpk2	UTSW	18	65,440,083 (GRCm39)	missense	probably benign	0.16
R5480:Alpk2	UTSW	18	65,482,979 (GRCm39)	missense	probably damaging	1.00
R5486:Alpk2	UTSW	18	65,427,425 (GRCm39)	splice site	probably null
R5503:Alpk2	UTSW	18	65,439,312 (GRCm39)	missense	probably benign	0.00
R5648:Alpk2	UTSW	18	65,482,988 (GRCm39)	missense	probably damaging	0.96
R5714:Alpk2	UTSW	18	65,438,532 (GRCm39)	missense	possibly damaging	0.55
R5862:Alpk2	UTSW	18	65,440,360 (GRCm39)	missense	probably damaging	1.00
R5894:Alpk2	UTSW	18	65,414,143 (GRCm39)	missense	probably damaging	0.99
R5898:Alpk2	UTSW	18	65,440,694 (GRCm39)	missense	probably damaging	0.99
R5936:Alpk2	UTSW	18	65,483,591 (GRCm39)	missense	probably damaging	0.96
R6142:Alpk2	UTSW	18	65,438,456 (GRCm39)	missense	possibly damaging	0.94
R6291:Alpk2	UTSW	18	65,438,972 (GRCm39)	missense	possibly damaging	0.93
R6339:Alpk2	UTSW	18	65,482,877 (GRCm39)	missense	probably benign	0.00
R6407:Alpk2	UTSW	18	65,422,809 (GRCm39)	missense	probably benign	0.22
R6487:Alpk2	UTSW	18	65,399,254 (GRCm39)	missense	possibly damaging	0.62
R6667:Alpk2	UTSW	18	65,440,811 (GRCm39)	missense	probably damaging	1.00
R6786:Alpk2	UTSW	18	65,439,705 (GRCm39)	missense	probably benign
R6833:Alpk2	UTSW	18	65,439,480 (GRCm39)	missense	probably benign	0.08
R6984:Alpk2	UTSW	18	65,438,749 (GRCm39)	missense	possibly damaging	0.95
R6999:Alpk2	UTSW	18	65,437,584 (GRCm39)	missense	probably damaging	0.99
R7157:Alpk2	UTSW	18	65,399,348 (GRCm39)	nonsense	probably null
R7167:Alpk2	UTSW	18	65,440,049 (GRCm39)	missense	probably benign	0.40
R7225:Alpk2	UTSW	18	65,438,270 (GRCm39)	missense	probably benign	0.00
R7409:Alpk2	UTSW	18	65,440,023 (GRCm39)	missense	probably benign	0.01
R7533:Alpk2	UTSW	18	65,437,674 (GRCm39)	missense	probably damaging	1.00
R7576:Alpk2	UTSW	18	65,439,887 (GRCm39)	missense	possibly damaging	0.89
R7589:Alpk2	UTSW	18	65,433,144 (GRCm39)	missense	probably damaging	1.00
R7598:Alpk2	UTSW	18	65,437,637 (GRCm39)	missense	probably damaging	1.00
R7664:Alpk2	UTSW	18	65,440,073 (GRCm39)	missense	probably benign	0.03
R7711:Alpk2	UTSW	18	65,439,555 (GRCm39)	missense	probably benign
R7722:Alpk2	UTSW	18	65,483,228 (GRCm39)	missense	probably damaging	1.00
R7783:Alpk2	UTSW	18	65,439,325 (GRCm39)	nonsense	probably null
R7806:Alpk2	UTSW	18	65,482,487 (GRCm39)	missense	probably benign
R7953:Alpk2	UTSW	18	65,482,901 (GRCm39)	missense	probably damaging	1.00
R8024:Alpk2	UTSW	18	65,438,106 (GRCm39)	missense	probably benign	0.01
R8043:Alpk2	UTSW	18	65,482,901 (GRCm39)	missense	probably damaging	1.00
R8063:Alpk2	UTSW	18	65,483,417 (GRCm39)	missense	probably benign	0.15
R8171:Alpk2	UTSW	18	65,439,054 (GRCm39)	missense	probably benign	0.00
R8280:Alpk2	UTSW	18	65,440,274 (GRCm39)	missense	probably benign
R8383:Alpk2	UTSW	18	65,438,469 (GRCm39)	missense	probably benign	0.03
R8414:Alpk2	UTSW	18	65,440,542 (GRCm39)	missense	possibly damaging	0.89
R8791:Alpk2	UTSW	18	65,438,597 (GRCm39)	missense	probably benign	0.00
R8872:Alpk2	UTSW	18	65,413,977 (GRCm39)	missense	probably damaging	1.00
R9352:Alpk2	UTSW	18	65,439,783 (GRCm39)	missense	probably benign	0.01
R9449:Alpk2	UTSW	18	65,424,464 (GRCm39)	missense	probably damaging	1.00
R9525:Alpk2	UTSW	18	65,399,288 (GRCm39)	missense	probably damaging	1.00
R9564:Alpk2	UTSW	18	65,439,014 (GRCm39)	missense	probably damaging	1.00
R9710:Alpk2	UTSW	18	65,482,646 (GRCm39)	missense	probably damaging	1.00
X0023:Alpk2	UTSW	18	65,424,471 (GRCm39)	missense	probably damaging	1.00
X0027:Alpk2	UTSW	18	65,440,542 (GRCm39)	missense	possibly damaging	0.89
X0063:Alpk2	UTSW	18	65,440,434 (GRCm39)	missense	probably benign
X0064:Alpk2	UTSW	18	65,482,755 (GRCm39)	missense	probably benign	0.09
Z1176:Alpk2	UTSW	18	65,438,682 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCAGATGTCCACGTGCAAG -3'
(R):5'- CAACCATGTGACTGTTCTTACC -3'

Sequencing Primer
(F):5'- AAGCCTGCGCGATGCTG -3'
(R):5'- TGTGACTGTTCTTACCAAAAATAGG -3'

Posted On

2016-10-26