Mutagenetix > Incidental Mutation

Incidental Mutation 'R7167:Alpk2'

558024

Institutional Source

Beutler Lab

Gene Symbol

Alpk2

Ensembl Gene

ENSMUSG00000032845

Gene Name

alpha-kinase 2

Synonyms

Hak

MMRRC Submission

045228-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7167 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65398600-65526959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 65440049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 448 (T448K)

Ref Sequence

ENSEMBL: ENSMUSP00000114658 (fasta)

Gene Model

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

AlphaFold

Q91ZB0

Predicted Effect

probably benign
Transcript: ENSMUST00000035548
AA Change: T915K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000048752
Gene: ENSMUSG00000032845
AA Change: T915K

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 benign
Transcript: ENSMUST00000141250
AA Change: T448K

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114658
Gene: ENSMUSG00000032845
AA Change: T448K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

94% (65/69)

Allele List at MGI

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

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,624,930 (GRCm39)	V436A	probably benign	Het
Abcc5	T	C	16: 20,224,251 (GRCm39)	T111A	possibly damaging	Het
Acsbg2	T	A	17: 57,164,000 (GRCm39)	D203V	probably benign	Het
Arhgef2	A	G	3: 88,551,179 (GRCm39)	N780S	possibly damaging	Het
Atxn2l	T	C	7: 126,098,394 (GRCm39)	N252S	possibly damaging	Het
Bmpr1b	A	T	3: 141,568,841 (GRCm39)	L163Q	probably benign	Het
Clca3a2	T	C	3: 144,803,545 (GRCm39)	R100G	probably benign	Het
Col2a1	A	G	15: 97,898,337 (GRCm39)	I79T	unknown	Het
Csmd1	A	G	8: 15,976,524 (GRCm39)	V2898A	probably benign	Het
Cux1	G	A	5: 136,338,895 (GRCm39)		probably null	Het
Cyp2u1	A	G	3: 131,096,773 (GRCm39)	S2P	probably benign	Het
Daam1	C	A	12: 72,035,678 (GRCm39)	H958N	probably damaging	Het
Dnah7a	C	T	1: 53,542,935 (GRCm39)	V2412I	probably benign	Het
Ergic2	T	C	6: 148,108,133 (GRCm39)	R2G	probably damaging	Het
Fat2	T	C	11: 55,175,827 (GRCm39)	T1629A	possibly damaging	Het
Ftl1	T	A	7: 45,109,202 (GRCm39)		probably benign	Het
Fut8	T	C	12: 77,495,406 (GRCm39)	V332A	possibly damaging	Het
Gm28363	T	C	1: 117,655,119 (GRCm39)	S113P	probably damaging	Het
Hfe	A	T	13: 23,892,052 (GRCm39)	V104E	probably damaging	Het
Ifih1	A	T	2: 62,429,240 (GRCm39)	N899K	probably benign	Het
Krt75	A	G	15: 101,476,750 (GRCm39)	S380P	possibly damaging	Het
Meiob	T	G	17: 25,055,419 (GRCm39)	F409V	probably damaging	Het
Mkrn2os	A	T	6: 115,562,474 (GRCm39)	I163N	probably damaging	Het
Nanos1	G	T	19: 60,745,046 (GRCm39)	G115W	probably damaging	Het
Naprt	C	T	15: 75,764,461 (GRCm39)	A276T	probably damaging	Het
Oas1e	G	T	5: 120,933,487 (GRCm39)	T26N	probably benign	Het
Oog2	T	G	4: 143,921,745 (GRCm39)	D218E	probably benign	Het
Optn	T	C	2: 5,047,294 (GRCm39)	N207S	probably benign	Het
Or13a20	T	A	7: 140,232,466 (GRCm39)	C191*	probably null	Het
Or1l8	T	C	2: 36,817,533 (GRCm39)	I198V	probably benign	Het
Or4g16	T	C	2: 111,136,793 (GRCm39)	M81T	probably benign	Het
Or4p18	A	G	2: 88,232,552 (GRCm39)	V242A	possibly damaging	Het
Or6c63-ps1	T	G	10: 128,899,141 (GRCm39)	Q245P	probably damaging	Het
Or6c66b	T	C	10: 129,376,607 (GRCm39)	L67P	possibly damaging	Het
Or8g4	T	C	9: 39,661,865 (GRCm39)	F61S	probably damaging	Het
Oxnad1	G	T	14: 31,822,976 (GRCm39)	E236*	probably null	Het
Pcdha3	G	A	18: 37,080,046 (GRCm39)	A263T	probably damaging	Het
Pex13	A	T	11: 23,605,472 (GRCm39)	W253R	possibly damaging	Het
Pip5k1b	T	A	19: 24,374,433 (GRCm39)	E49D	probably benign	Het
Plau	C	A	14: 20,889,518 (GRCm39)	F194L	possibly damaging	Het
Ppm1n	A	G	7: 19,013,666 (GRCm39)	L95S	probably damaging	Het
Pramel40	G	A	5: 94,464,984 (GRCm39)	A457T	possibly damaging	Het
Radil	G	T	5: 142,471,260 (GRCm39)		probably null	Het
Ralgapa2	C	T	2: 146,190,374 (GRCm39)	M1266I	probably benign	Het
Reln	A	T	5: 22,147,618 (GRCm39)	L2444Q	probably damaging	Het
Rims2	T	C	15: 39,300,473 (GRCm39)	V260A	probably benign	Het
Rnase2b	T	A	14: 51,400,222 (GRCm39)	V101E	probably damaging	Het
Rtp3	T	A	9: 110,815,772 (GRCm39)	T198S	probably benign	Het
Shisal2b	A	G	13: 105,000,166 (GRCm39)	V19A	probably damaging	Het
Smad3	T	A	9: 63,573,435 (GRCm39)	D201V	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spata7	T	G	12: 98,630,555 (GRCm39)	F371C	probably damaging	Het
Stag1	T	G	9: 100,827,942 (GRCm39)	N990K	probably benign	Het
Tbx18	C	T	9: 87,589,883 (GRCm39)	A352T	probably damaging	Het
Thada	C	T	17: 84,538,391 (GRCm39)	R1539Q	probably benign	Het
Thrap3	A	C	4: 126,078,920 (GRCm39)		probably benign	Het
Tnks	G	A	8: 35,316,458 (GRCm39)	T887M	probably damaging	Het
Trap1	A	C	16: 3,870,792 (GRCm39)	V393G	probably damaging	Het
Trpm4	A	G	7: 44,977,143 (GRCm39)		probably null	Het
Trrap	G	T	5: 144,776,424 (GRCm39)	G3007C	probably benign	Het
U2surp	A	T	9: 95,363,726 (GRCm39)	N611K	probably damaging	Het
Usp12	A	G	5: 146,705,745 (GRCm39)		probably null	Het
Vmn1r200	A	G	13: 22,579,487 (GRCm39)	T97A	possibly damaging	Het
Vmn2r110	C	T	17: 20,794,441 (GRCm39)	V743I	probably benign	Het
Vps50	C	T	6: 3,600,256 (GRCm39)	T905M	probably damaging	Het
Wdr48	T	A	9: 119,736,855 (GRCm39)		probably null	Het
Zfp446	C	T	7: 12,712,049 (GRCm39)		probably benign	Het
Zfr	T	C	15: 12,181,015 (GRCm39)	S1012P	probably benign	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
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
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'- ATCTCCCTGGTCACCTGATG -3'
(R):5'- TACAGACACAAGGTTCTGAGC -3'

Sequencing Primer
(F):5'- CTGATGACAGTCGACATTAGCAGTTG -3'
(R):5'- ACAAGGTTCTGAGCCTCCACG -3'

Posted On

2019-06-26