Mutagenetix > Incidental Mutation

Incidental Mutation 'R0546:Alpk2'

44878

Institutional Source

Beutler Lab

Gene Symbol

Alpk2

Ensembl Gene

ENSMUSG00000032845

Gene Name

alpha-kinase 2

Synonyms

Hak

MMRRC Submission

038738-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0546 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65398600-65526959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65439788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1002 (D1002G)

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: D1002G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048752
Gene: ENSMUSG00000032845
AA Change: D1002G

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: D535G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000114658
Gene: ENSMUSG00000032845
AA Change: D535G

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: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (74/75)

Allele List at MGI

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

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,077,076 (GRCm39)		probably null	Het
Actn1	C	T	12: 80,225,208 (GRCm39)	R418Q	probably benign	Het
Adam39	G	A	8: 41,279,468 (GRCm39)	V620M	probably damaging	Het
Agr3	C	A	12: 35,978,329 (GRCm39)	T14K	probably benign	Het
Amz2	T	A	11: 109,324,780 (GRCm39)	N221K	probably benign	Het
Aox4	A	G	1: 58,289,333 (GRCm39)	E752G	probably damaging	Het
Ap2a1	C	T	7: 44,554,132 (GRCm39)	G500S	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Ccdc112	A	G	18: 46,424,139 (GRCm39)	S200P	possibly damaging	Het
Ccdc18	A	T	5: 108,322,830 (GRCm39)	E643D	probably benign	Het
Ccdc180	A	T	4: 45,904,597 (GRCm39)	T398S	possibly damaging	Het
Cnp	A	G	11: 100,471,549 (GRCm39)	Y397C	probably damaging	Het
Cpa4	T	C	6: 30,580,962 (GRCm39)	W184R	probably damaging	Het
Crebbp	A	T	16: 3,903,671 (GRCm39)	I1856N	probably damaging	Het
Ctrl	A	G	8: 106,658,966 (GRCm39)	I200T	probably damaging	Het
Cyfip1	C	T	7: 55,572,564 (GRCm39)	R934*	probably null	Het
Dennd5a	A	G	7: 109,520,633 (GRCm39)	V408A	probably benign	Het
Dhfr	G	A	13: 92,504,692 (GRCm39)		probably null	Het
Dnajc6	A	T	4: 101,492,388 (GRCm39)	N740Y	probably damaging	Het
Fam110a	T	C	2: 151,812,732 (GRCm39)	T13A	probably benign	Het
Fars2	G	T	13: 36,388,569 (GRCm39)	K19N	probably benign	Het
Fer1l6	A	T	15: 58,430,257 (GRCm39)		probably null	Het
Gabra1	T	A	11: 42,053,428 (GRCm39)	T69S	probably damaging	Het
Galnt18	T	G	7: 111,107,348 (GRCm39)	N475T	probably damaging	Het
Gbp4	T	C	5: 105,268,836 (GRCm39)	Y439C	probably damaging	Het
Gpatch2l	A	G	12: 86,335,622 (GRCm39)	*409W	probably null	Het
Hip1r	T	C	5: 124,137,114 (GRCm39)	V658A	possibly damaging	Het
Hspg2	A	G	4: 137,229,605 (GRCm39)	D73G	probably benign	Het
Ifitm2	A	G	7: 140,535,656 (GRCm39)	V58A	possibly damaging	Het
Ift172	T	C	5: 31,414,945 (GRCm39)	D1359G	probably benign	Het
Ing1	A	G	8: 11,607,031 (GRCm39)	D41G	probably damaging	Het
Itgal	C	T	7: 126,909,486 (GRCm39)	T446I	probably benign	Het
Itgav	G	T	2: 83,633,586 (GRCm39)	M978I	probably benign	Het
Jazf1	A	G	6: 52,754,681 (GRCm39)	Y132H	possibly damaging	Het
Lgr4	T	A	2: 109,829,766 (GRCm39)	N211K	probably damaging	Het
Mgat4d	A	G	8: 84,082,350 (GRCm39)	N100S	possibly damaging	Het
Mrgprb3	T	C	7: 48,293,263 (GRCm39)	Y96C	probably damaging	Het
Myh11	A	C	16: 14,023,492 (GRCm39)	L1562R	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo15a	A	G	11: 60,397,139 (GRCm39)	Y2667C	probably damaging	Het
Or14j7	T	A	17: 38,235,229 (GRCm39)	C257*	probably null	Het
Or52ae7	A	G	7: 103,119,907 (GRCm39)	I220M	possibly damaging	Het
Or6c70	G	A	10: 129,710,407 (GRCm39)	T73I	possibly damaging	Het
Or8k37	T	A	2: 86,469,573 (GRCm39)	T160S	possibly damaging	Het
Or8k38	C	T	2: 86,488,235 (GRCm39)	C189Y	possibly damaging	Het
Or9m2	T	A	2: 87,820,816 (GRCm39)	Y120*	probably null	Het
Paox	G	T	7: 139,711,591 (GRCm39)	G148W	probably damaging	Het
Pkd1	T	C	17: 24,799,112 (GRCm39)	V2777A	probably benign	Het
Plod2	T	A	9: 92,477,388 (GRCm39)	V360E	probably damaging	Het
Prune2	T	C	19: 16,998,030 (GRCm39)		probably benign	Het
Sbds	G	T	5: 130,282,919 (GRCm39)	A3D	possibly damaging	Het
Sec23a	T	C	12: 59,031,953 (GRCm39)	T426A	probably benign	Het
Sec31a	T	C	5: 100,551,929 (GRCm39)	Y148C	probably damaging	Het
Shprh	T	A	10: 11,059,631 (GRCm39)		probably benign	Het
Slc16a7	A	G	10: 125,066,742 (GRCm39)	V299A	probably benign	Het
Smg8	T	C	11: 86,974,439 (GRCm39)	Y174C	possibly damaging	Het
Snx22	T	A	9: 65,976,059 (GRCm39)	Y58F	probably damaging	Het
Snx25	A	G	8: 46,556,667 (GRCm39)	Y308H	probably benign	Het
St3gal2	A	G	8: 111,696,738 (GRCm39)		probably null	Het
Stab1	C	T	14: 30,861,507 (GRCm39)	R2500H	possibly damaging	Het
Steap4	T	C	5: 8,025,870 (GRCm39)	S144P	probably damaging	Het
Stfa3	T	A	16: 36,272,619 (GRCm39)		probably benign	Het
Tmprss9	C	A	10: 80,735,157 (GRCm39)	Q1095K	probably benign	Het
Top2a	A	G	11: 98,890,052 (GRCm39)	V1217A	possibly damaging	Het
Trhr2	A	G	8: 123,085,228 (GRCm39)		probably null	Het
Trim7	A	G	11: 48,736,336 (GRCm39)	E23G	probably damaging	Het
Trpv3	A	T	11: 73,188,013 (GRCm39)	E788V	probably damaging	Het
Ttn	A	G	2: 76,575,863 (GRCm39)	I25010T	probably damaging	Het
Ube2ql1	T	C	13: 69,887,419 (GRCm39)	H14R	unknown	Het
Uggt1	C	T	1: 36,235,052 (GRCm39)	R419H	probably benign	Het
Xpo4	A	G	14: 57,850,731 (GRCm39)	V391A	probably benign	Het
Zfhx3	A	G	8: 109,520,819 (GRCm39)	D647G	probably damaging	Het
Zfp354c	A	T	11: 50,706,457 (GRCm39)	M206K	probably benign	Het
Zfp804a	A	G	2: 82,089,264 (GRCm39)	N1031S	possibly damaging	Het
Zfp868	A	G	8: 70,064,882 (GRCm39)	V151A	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
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
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'- ATCCATCTGAAGAGCCCTGCTACAC -3'
(R):5'- TGCCATAGACACACTTGCCAGCTAC -3'

Sequencing Primer
(F):5'- CCTCGGGCATGGAGAAGTG -3'
(R):5'- TGCCAGCTACAGTTCTGACAG -3'

Posted On

2013-06-11