Mutagenetix > Incidental Mutation

Incidental Mutation 'R6339:Alpk2'

513860

Institutional Source

Beutler Lab

Gene Symbol

Alpk2

Ensembl Gene

ENSMUSG00000032845

Gene Name

alpha-kinase 2

Synonyms

Hak

MMRRC Submission

044493-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65398600-65526959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65482877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 377 (M377T)

Ref Sequence

ENSEMBL: ENSMUSP00000048752 (fasta)

Gene Model

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

AlphaFold

Q91ZB0

Predicted Effect

probably benign
Transcript: ENSMUST00000035548
AA Change: M377T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000048752
Gene: ENSMUSG00000032845
AA Change: M377T

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

SMART Domains

Protein: ENSMUSP00000114658
Gene: ENSMUSG00000032845

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

97% (69/71)

Allele List at MGI

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

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933424G06Rik	A	T	1: 36,749,542 (GRCm39)		probably benign	Het
Adgrg6	G	T	10: 14,310,091 (GRCm39)	S743R	probably damaging	Het
Ak8	A	G	2: 28,624,460 (GRCm39)		probably null	Het
Ap1g1	G	A	8: 110,571,000 (GRCm39)	V425I	possibly damaging	Het
Apob	A	T	12: 8,066,188 (GRCm39)	R4353W	probably damaging	Het
Arhgef38	T	C	3: 132,839,423 (GRCm39)	K540R	probably benign	Het
B3galt2	A	T	1: 143,522,640 (GRCm39)	T259S	possibly damaging	Het
Btbd8	G	A	5: 107,651,583 (GRCm39)	V159I	probably benign	Het
C2cd2l	T	C	9: 44,224,788 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Ccdc171	A	T	4: 83,661,234 (GRCm39)	T1115S	probably damaging	Het
Chst2	C	T	9: 95,287,803 (GRCm39)	G181D	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Cpt1a	A	C	19: 3,412,152 (GRCm39)	D208A	probably benign	Het
Crocc2	A	G	1: 93,141,754 (GRCm39)	E1183G	probably benign	Het
Defa39	G	A	8: 22,193,485 (GRCm39)	S45F	possibly damaging	Het
Dlg5	T	A	14: 24,208,128 (GRCm39)	H1003L	probably damaging	Het
Dok2	A	T	14: 71,013,158 (GRCm39)	I109L	probably benign	Het
Dpy19l4	A	T	4: 11,285,111 (GRCm39)	I465K	probably damaging	Het
Dync1h1	A	T	12: 110,612,639 (GRCm39)	D2838V	probably damaging	Het
Frem3	A	G	8: 81,339,644 (GRCm39)	R646G	possibly damaging	Het
Gcfc2	T	A	6: 81,923,477 (GRCm39)	F514I	probably damaging	Het
Gm8104	T	C	14: 42,958,942 (GRCm39)	M44T	probably benign	Het
Golph3l	T	A	3: 95,524,750 (GRCm39)	W334R	probably damaging	Het
Gpr179	A	T	11: 97,235,002 (GRCm39)	F443I	probably damaging	Het
Ift172	A	G	5: 31,413,927 (GRCm39)	V1467A	probably benign	Het
Ift172	A	T	5: 31,444,289 (GRCm39)	D44E	probably damaging	Het
Il1rl1	C	T	1: 40,501,016 (GRCm39)	A464V	possibly damaging	Het
Irx5	A	G	8: 93,086,481 (GRCm39)	E188G	probably damaging	Het
Jak1	A	G	4: 101,019,123 (GRCm39)	V710A	probably damaging	Het
Kcng4	A	T	8: 120,359,693 (GRCm39)	F228I	probably damaging	Het
Lifr	A	G	15: 7,196,530 (GRCm39)	N238S	probably benign	Het
Ltbp3	C	A	19: 5,797,505 (GRCm39)	H414Q	probably damaging	Het
Mcpt8	A	G	14: 56,319,794 (GRCm39)	C219R	probably benign	Het
Mepce	A	T	5: 137,783,950 (GRCm39)	N125K	possibly damaging	Het
Mfap3	T	C	11: 57,420,598 (GRCm39)	F193S	probably damaging	Het
Miox	T	A	15: 89,219,702 (GRCm39)	Y63*	probably null	Het
Msl2	A	T	9: 100,978,949 (GRCm39)	H441L	probably benign	Het
Nemp2	T	A	1: 52,680,069 (GRCm39)	S98T	possibly damaging	Het
Neto2	G	T	8: 86,367,187 (GRCm39)	A547E	probably benign	Het
Nol12	T	C	15: 78,825,033 (GRCm39)		probably benign	Het
Npr3	T	C	15: 11,845,361 (GRCm39)	I504V	probably damaging	Het
Or4c106	A	G	2: 88,683,215 (GRCm39)	D307G	probably null	Het
Pcdhb3	T	C	18: 37,433,998 (GRCm39)		probably benign	Het
Pear1	C	A	3: 87,659,827 (GRCm39)	G720W	probably damaging	Het
Pibf1	T	G	14: 99,344,834 (GRCm39)	D151E	probably damaging	Het
Pla2g6	T	A	15: 79,193,016 (GRCm39)	N217I	probably damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Plcl1	C	T	1: 55,735,474 (GRCm39)	L272F	probably damaging	Het
Ppp4r4	A	T	12: 103,571,228 (GRCm39)	K656*	probably null	Het
Prr22	G	A	17: 57,078,490 (GRCm39)	M214I	probably benign	Het
Ror1	G	T	4: 100,269,128 (GRCm39)	R322L	possibly damaging	Het
Sh3tc2	G	A	18: 62,108,642 (GRCm39)	W244*	probably null	Het
Slamf6	A	G	1: 171,775,615 (GRCm39)	N320S	probably null	Het
Slc1a6	A	C	10: 78,635,919 (GRCm39)	D328A	possibly damaging	Het
Sorl1	G	T	9: 41,881,038 (GRCm39)	T2161K	probably benign	Het
Spata31e2	T	A	1: 26,721,586 (GRCm39)	D1198V	probably benign	Het
Sstr2	T	C	11: 113,515,375 (GRCm39)	F98S	probably damaging	Het
Stk33	A	T	7: 108,920,672 (GRCm39)	D348E	probably benign	Het
Sulf1	T	A	1: 12,908,664 (GRCm39)	L559Q	probably damaging	Het
Syne2	A	G	12: 76,035,927 (GRCm39)	D3738G	probably benign	Het
Taok3	A	T	5: 117,366,095 (GRCm39)	Q382L	probably benign	Het
Tet2	T	A	3: 133,192,178 (GRCm39)	H752L	possibly damaging	Het
Tia1	A	C	6: 86,403,638 (GRCm39)	K285T	probably damaging	Het
Tle3	G	T	9: 61,309,206 (GRCm39)		probably null	Het
Top1mt	T	C	15: 75,537,505 (GRCm39)	T414A	possibly damaging	Het
Ubc	A	T	5: 125,464,406 (GRCm39)	I307N	probably damaging	Het
Vmn2r96	A	T	17: 18,804,124 (GRCm39)	D266V	possibly damaging	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zfp456	T	A	13: 67,510,483 (GRCm39)	K102*	probably null	Het
Zkscan1	T	C	5: 138,091,567 (GRCm39)	V100A	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
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
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'- TTTTCAACAGCCTCGGGAGC -3'
(R):5'- ATGACCTGGAGTATCTGGAATGTTC -3'

Sequencing Primer
(F):5'- CAACAGCCTCGGGAGCAGTAG -3'
(R):5'- GGAATGTTCCGATGTTATGACG -3'

Posted On

2018-04-27