Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Alpk2'

67597

Institutional Source

Beutler Lab

Gene Symbol

Alpk2

Ensembl Gene

ENSMUSG00000032845

Gene Name

alpha-kinase 2

Synonyms

Hak

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65398600-65526959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65438461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1444 (D1444E)

Ref Sequence

ENSEMBL: ENSMUSP00000048752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035548] [ENSMUST00000141250]

AlphaFold

Q91ZB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000035548
AA Change: D1444E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048752
Gene: ENSMUSG00000032845
AA Change: D1444E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000141250
AA Change: D977E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114658
Gene: ENSMUSG00000032845
AA Change: D977E

Domain	Start	End	E-Value	Type
low complexity region	255	267	N/A	INTRINSIC
low complexity region	558	570	N/A	INTRINSIC
low complexity region	870	886	N/A	INTRINSIC
IG	1299	1382	2.27e-2	SMART
Alpha_kinase	1412	1603	2.45e-56	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

Allele List at MGI

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

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,247 (GRCm39)	R27*	probably null	Het
Actg1	A	G	11: 120,237,775 (GRCm39)	F255S	probably damaging	Het
Ahdc1	T	A	4: 132,790,262 (GRCm39)	V501E	possibly damaging	Het
Btaf1	T	G	19: 36,974,895 (GRCm39)		probably null	Het
Cacnb2	A	G	2: 14,990,517 (GRCm39)	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,455,139 (GRCm39)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,203,259 (GRCm39)	S145R	probably damaging	Het
Cdh11	T	A	8: 103,394,651 (GRCm39)	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,785,798 (GRCm39)	D2892G	probably benign	Het
Chuk	A	G	19: 44,092,205 (GRCm39)		probably benign	Het
Clk3	T	C	9: 57,658,409 (GRCm39)		probably benign	Het
Dcaf8	A	T	1: 172,000,076 (GRCm39)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,160,071 (GRCm39)	T87A	probably damaging	Het
Ddx50	T	C	10: 62,452,028 (GRCm39)	N732D	unknown	Het
Dnah5	A	T	15: 28,311,289 (GRCm39)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,847,055 (GRCm39)	V858E	probably damaging	Het
Fer1l4	A	G	2: 155,865,990 (GRCm39)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,334,116 (GRCm39)	I125V	probably benign	Het
Fuca2	C	T	10: 13,381,771 (GRCm39)	P228L	probably benign	Het
Galntl6	A	G	8: 58,989,018 (GRCm39)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,335,449 (GRCm39)		probably benign	Het
Gm16505	A	T	13: 3,411,329 (GRCm39)		noncoding transcript	Het
Gm4781	T	C	10: 100,232,639 (GRCm39)		noncoding transcript	Het
Gm9956	T	A	10: 56,621,639 (GRCm39)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,483,806 (GRCm39)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,779,940 (GRCm39)	R331G	probably benign	Het
Hlcs	T	A	16: 93,932,711 (GRCm39)	H851L	probably damaging	Het
Irag1	T	C	7: 110,476,107 (GRCm39)	S615G	probably benign	Het
Kbtbd6	C	A	14: 79,689,324 (GRCm39)	Y6*	probably null	Het
Kif23	T	C	9: 61,832,314 (GRCm39)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,832,361 (GRCm39)	T487I	probably damaging	Het
Klra5	A	C	6: 129,885,759 (GRCm39)	D133E	possibly damaging	Het
Klra6	T	C	6: 129,999,668 (GRCm39)	E100G	probably damaging	Het
Klre1	T	A	6: 129,562,531 (GRCm39)		probably benign	Het
Lancl1	C	T	1: 67,049,069 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Man1b1	A	G	2: 25,228,167 (GRCm39)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,921,038 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,233,965 (GRCm39)	S178P	probably damaging	Het
Mau2	A	G	8: 70,476,262 (GRCm39)		probably null	Het
Mgat4f	A	C	1: 134,317,713 (GRCm39)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,591,612 (GRCm39)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,093,359 (GRCm39)	E150G	probably damaging	Het
Myo7b	T	A	18: 32,094,878 (GRCm39)		probably null	Het
Nyap1	A	G	5: 137,733,560 (GRCm39)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,480,740 (GRCm39)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,209,638 (GRCm39)	M98V	probably damaging	Het
Or5p60	T	C	7: 107,723,941 (GRCm39)	I176M	probably benign	Het
Or8g34	T	C	9: 39,372,828 (GRCm39)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 62,892,590 (GRCm39)	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,017,744 (GRCm39)	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,390,700 (GRCm39)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 76,983,479 (GRCm39)	S141P	probably benign	Het
Rdx	A	G	9: 51,979,518 (GRCm39)	T214A	probably benign	Het
Ripor2	A	T	13: 24,864,627 (GRCm39)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,422,065 (GRCm39)	T66A	probably damaging	Het
Rufy2	G	A	10: 62,847,623 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,964,165 (GRCm39)		probably benign	Het
Snrnp200	G	T	2: 127,068,065 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,560,761 (GRCm39)		probably null	Het
Tcerg1	C	T	18: 42,704,905 (GRCm39)	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,765,252 (GRCm39)	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,194,556 (GRCm39)	D860G	probably damaging	Het
Try4	T	C	6: 41,281,301 (GRCm39)	L81P	probably benign	Het
Ucp1	T	C	8: 84,024,476 (GRCm39)		probably benign	Het
Ugt2b38	G	A	5: 87,568,311 (GRCm39)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 26,096,991 (GRCm39)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,246,537 (GRCm39)	T875A	probably benign	Het
Zfp11	A	G	5: 129,734,328 (GRCm39)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,840,689 (GRCm39)	N54I	probably 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
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
R5595:Alpk2	UTSW	18	65,399,319 (GRCm39)	missense	probably damaging	1.00
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'- GTATGTGTCACTCCTGTGAGACAGC -3'
(R):5'- TGGAATCCTCTGTGGACCCCATTG -3'

Sequencing Primer
(F):5'- GGAAATGACCTCGGTCTCATC -3'
(R):5'- TGTGGACCCCATTGACGAC -3'

Posted On

2013-09-03