Mutagenetix > Incidental Mutation

Incidental Mutation 'R2512:Alpk2'

253526

Institutional Source

Beutler Lab

Gene Symbol

Alpk2

Ensembl Gene

ENSMUSG00000032845

Gene Name

alpha-kinase 2

Synonyms

Hak

MMRRC Submission

040418-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65398600-65526959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65483591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 139 (T139M)

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: T139M

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048752
Gene: ENSMUSG00000032845
AA Change: T139M

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

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
2700049A03Rik	A	G	12: 71,219,945 (GRCm39)	T831A	possibly damaging	Het
Actg2	T	A	6: 83,503,829 (GRCm39)	I72F	probably damaging	Het
Add1	A	G	5: 34,774,030 (GRCm39)	T80A	probably benign	Het
Aplp2	C	T	9: 31,078,973 (GRCm39)	R325H	probably damaging	Het
Aptx	G	A	4: 40,694,917 (GRCm39)	P140S	probably benign	Het
Carm1	A	G	9: 21,486,708 (GRCm39)		probably null	Het
Carmil2	A	T	8: 106,424,025 (GRCm39)	I1293F	probably benign	Het
Cdh8	T	C	8: 100,127,495 (GRCm39)	T39A	probably benign	Het
Cimip3	T	C	17: 47,724,651 (GRCm39)	T60A	probably benign	Het
Col15a1	T	A	4: 47,245,868 (GRCm39)	N206K	possibly damaging	Het
Copg2	C	T	6: 30,873,591 (GRCm39)		probably null	Het
Ctr9	T	G	7: 110,646,078 (GRCm39)	I690S	probably damaging	Het
Dcaf8	T	G	1: 172,016,602 (GRCm39)	I463S	possibly damaging	Het
Dcp1b	G	T	6: 119,183,473 (GRCm39)	A187S	possibly damaging	Het
Ddo	T	A	10: 40,508,935 (GRCm39)	D58E	possibly damaging	Het
Dkkl1	G	T	7: 44,857,157 (GRCm39)	R137S	probably damaging	Het
Dxo	A	G	17: 35,056,718 (GRCm39)	N115S	probably benign	Het
Ep400	A	T	5: 110,856,781 (GRCm39)		probably benign	Het
F11	A	G	8: 45,714,098 (GRCm39)	V7A	probably benign	Het
Fermt1	G	T	2: 132,781,438 (GRCm39)		probably null	Het
Fign	A	T	2: 63,810,143 (GRCm39)	F376I	probably benign	Het
Flg2	G	T	3: 93,109,082 (GRCm39)	G370V	probably damaging	Het
Fndc3a	A	T	14: 72,793,715 (GRCm39)	D953E	probably benign	Het
Fsip2	A	T	2: 82,808,511 (GRCm39)	H1610L	probably benign	Het
Gfra3	T	C	18: 34,837,564 (GRCm39)	N145D	probably benign	Het
Inpp4b	G	T	8: 82,737,179 (GRCm39)	W525C	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lgi2	A	G	5: 52,695,307 (GRCm39)	*543R	probably null	Het
Lyn	A	G	4: 3,745,542 (GRCm39)	T114A	probably benign	Het
Lynx1	A	G	15: 74,623,169 (GRCm39)	Y88H	probably damaging	Het
Map4	C	A	9: 109,863,770 (GRCm39)	P332T	possibly damaging	Het
Mapk8ip3	A	T	17: 25,133,677 (GRCm39)	C250*	probably null	Het
Metap1d	A	G	2: 71,352,954 (GRCm39)	H261R	probably damaging	Het
Mfrp	T	C	9: 44,013,835 (GRCm39)	V115A	probably benign	Het
Mtbp	A	G	15: 55,440,932 (GRCm39)	Y373C	probably damaging	Het
Mtor	C	A	4: 148,614,948 (GRCm39)	R1628S	possibly damaging	Het
Muc5b	A	G	7: 141,412,813 (GRCm39)	N1920D	unknown	Het
Myo1d	T	A	11: 80,670,543 (GRCm39)	M26L	probably benign	Het
Neb	A	C	2: 52,100,843 (GRCm39)	D643E	probably damaging	Het
Nme1	A	G	11: 93,851,513 (GRCm39)	F108L	possibly damaging	Het
Or2r11	A	G	6: 42,437,207 (GRCm39)	S249P	probably damaging	Het
Or8c15	G	T	9: 38,120,670 (GRCm39)	C54F	probably damaging	Het
Pan2	T	A	10: 128,140,326 (GRCm39)	D82E	probably damaging	Het
Pclo	A	G	5: 14,762,612 (GRCm39)	D3695G	unknown	Het
Pcnx4	A	T	12: 72,603,573 (GRCm39)		probably null	Het
Plg	A	G	17: 12,622,116 (GRCm39)	T479A	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Pramel32	T	G	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Ptgis	T	C	2: 167,049,196 (GRCm39)	D372G	probably damaging	Het
Ranbp3l	A	G	15: 8,997,949 (GRCm39)	T14A	probably benign	Het
Rcc1l	A	T	5: 134,195,508 (GRCm39)	V230D	probably damaging	Het
Reln	T	C	5: 22,184,688 (GRCm39)	D1609G	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,802,967 (GRCm39)	L696F	possibly damaging	Het
Sacs	T	A	14: 61,440,529 (GRCm39)	D858E	probably benign	Het
Sec16a	C	T	2: 26,329,037 (GRCm39)	V993I	probably benign	Het
Skint5	T	A	4: 113,487,616 (GRCm39)	I901F	unknown	Het
Slc17a3	A	T	13: 24,030,230 (GRCm39)	I114F	probably benign	Het
Slc17a7	T	A	7: 44,818,288 (GRCm39)	L71Q	probably damaging	Het
Slc43a2	T	C	11: 75,461,403 (GRCm39)	S452P	probably damaging	Het
Smarca4	A	G	9: 21,546,994 (GRCm39)	N173S	possibly damaging	Het
Tbc1d21	T	C	9: 58,270,195 (GRCm39)	Y161C	probably damaging	Het
Tpsab1	C	A	17: 25,564,081 (GRCm39)	C94F	probably damaging	Het
Ubr5	G	A	15: 38,002,563 (GRCm39)	P1496L	probably damaging	Het
Unc80	G	T	1: 66,710,767 (GRCm39)	A2679S	possibly damaging	Het
Vdac1	T	A	11: 52,274,904 (GRCm39)	V184E	probably damaging	Het
Vmn2r24	T	A	6: 123,763,985 (GRCm39)	S287R	probably benign	Het
Vmn2r91	T	C	17: 18,356,048 (GRCm39)	F572L	probably benign	Het
Vps13b	G	A	15: 35,884,701 (GRCm39)	E3125K	probably benign	Het
Ythdf3	A	G	3: 16,259,059 (GRCm39)	N406S	possibly damaging	Het
Zfp708	T	C	13: 67,219,251 (GRCm39)	K158E	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
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'- TGAATTGTACTGCCCCATCC -3'
(R):5'- GTGCAAGCCTTCACTTACCTG -3'

Sequencing Primer
(F):5'- GAATTGTACTGCCCCATCCTTTGTC -3'
(R):5'- TTCCTAGCTGTACCCAGAGCG -3'

Posted On

2014-12-04