Mutagenetix > Incidental Mutation

Incidental Mutation 'R7409:Alpk2'

574968

Institutional Source

Beutler Lab

Gene Symbol

Alpk2

Ensembl Gene

ENSMUSG00000032845

Gene Name

alpha-kinase 2

Synonyms

Hak

MMRRC Submission

045490-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7409 (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 65440023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 457 (S457P)

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: S924P

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000048752
Gene: ENSMUSG00000032845
AA Change: S924P

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: S457P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000114658
Gene: ENSMUSG00000032845
AA Change: S457P

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (82/84)

Allele List at MGI

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

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 129,912,862 (GRCm39)	A1329V	probably benign	Het
Aida	A	G	1: 183,099,809 (GRCm39)	T215A	probably benign	Het
Ap4b1	G	A	3: 103,719,474 (GRCm39)	V63I	probably damaging	Het
Apaf1	A	G	10: 90,903,108 (GRCm39)	V182A	probably damaging	Het
B4galnt4	G	A	7: 140,646,916 (GRCm39)		probably null	Het
Bltp2	G	T	11: 78,159,583 (GRCm39)	R544L	probably damaging	Het
Cacna1a	T	G	8: 85,260,031 (GRCm39)	D331E	probably damaging	Het
Carmil2	A	G	8: 106,419,423 (GRCm39)		probably null	Het
Cdkn1b	A	T	6: 134,898,280 (GRCm39)	Q133L	probably benign	Het
Cep192	G	C	18: 67,967,874 (GRCm39)	S786T	possibly damaging	Het
Cfap418	T	A	4: 10,881,834 (GRCm39)	C94S	probably benign	Het
Cfap97	G	A	8: 46,645,733 (GRCm39)	R537H	probably benign	Het
Clpx	C	G	9: 65,231,529 (GRCm39)	A552G	possibly damaging	Het
Cryl1	G	A	14: 57,523,842 (GRCm39)	T240I	probably damaging	Het
Ddx60	C	A	8: 62,411,612 (GRCm39)	T488K	probably benign	Het
Dennd4b	A	G	3: 90,181,259 (GRCm39)	H805R	probably benign	Het
Dnmbp	T	C	19: 43,878,996 (GRCm39)	D25G	unknown	Het
Dysf	A	C	6: 84,126,664 (GRCm39)	D1293A	probably benign	Het
Efl1	T	C	7: 82,347,121 (GRCm39)	L549P	probably damaging	Het
Eif5	T	C	12: 111,506,697 (GRCm39)		probably benign	Het
Eva1c	A	G	16: 90,666,544 (GRCm39)	K156E	probably damaging	Het
Fbxw10	T	G	11: 62,767,606 (GRCm39)	V814G	possibly damaging	Het
Gfap	C	T	11: 102,785,358 (GRCm39)	R206Q	probably benign	Het
Gjb6	A	T	14: 57,361,610 (GRCm39)	L217*	probably null	Het
Gpatch11	T	A	17: 79,146,595 (GRCm39)	L80Q	probably damaging	Het
Gramd1b	T	C	9: 40,238,727 (GRCm39)	Q225R	probably damaging	Het
Gsdmc2	A	G	15: 63,705,195 (GRCm39)	S173P	possibly damaging	Het
Hars1	C	G	18: 36,903,166 (GRCm39)	R388P	probably damaging	Het
Ighm	C	T	12: 113,385,852 (GRCm39)	R129H		Het
Igsf9	A	G	1: 172,322,841 (GRCm39)	I602V	probably benign	Het
Inpp4b	T	G	8: 82,679,314 (GRCm39)		probably null	Het
Itch	C	A	2: 155,041,302 (GRCm39)	T450K	probably damaging	Het
Kcnq1	T	C	7: 142,663,152 (GRCm39)	F20L	unknown	Het
Kmt2d	G	T	15: 98,753,235 (GRCm39)	A153E	probably damaging	Het
Macf1	T	A	4: 123,398,263 (GRCm39)	N750I	probably damaging	Het
Marveld2	T	A	13: 100,747,984 (GRCm39)	H365L	probably damaging	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Mettl8	A	T	2: 70,803,687 (GRCm39)	V200E	probably damaging	Het
Mrgbp	T	G	2: 180,227,135 (GRCm39)	S157A	possibly damaging	Het
Mrps35	A	G	6: 146,957,481 (GRCm39)	T169A	possibly damaging	Het
Mycbp2	A	T	14: 103,526,180 (GRCm39)	Y551N	probably damaging	Het
Myo18b	T	C	5: 113,021,971 (GRCm39)	R474G	probably benign	Het
Nfx1	T	A	4: 41,021,830 (GRCm39)	S979R	possibly damaging	Het
Nlrp1a	T	C	11: 71,013,634 (GRCm39)	T539A	probably benign	Het
Oca2	T	A	7: 56,064,145 (GRCm39)	D713E	probably benign	Het
Omt2b	A	C	9: 78,235,894 (GRCm39)	Y73S	probably benign	Het
Or10aa1	T	A	1: 173,870,099 (GRCm39)	H194Q	probably benign	Het
Or13a27	C	T	7: 139,925,318 (GRCm39)	V195I	probably benign	Het
Or6c38	A	G	10: 128,929,081 (GRCm39)	I254T	probably damaging	Het
Or6c69	A	T	10: 129,748,120 (GRCm39)	V9D	possibly damaging	Het
Pde11a	G	T	2: 75,836,328 (GRCm39)	Q20K		Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phrf1	C	A	7: 140,839,205 (GRCm39)	T800K	unknown	Het
Polr1f	T	G	12: 33,486,988 (GRCm39)	C150W	possibly damaging	Het
Pramel4	T	C	4: 143,795,061 (GRCm39)	S486P	probably benign	Het
Proc	T	C	18: 32,260,513 (GRCm39)	D204G	probably benign	Het
Rasgrp3	T	A	17: 75,823,411 (GRCm39)	I494N	possibly damaging	Het
Samm50	A	G	15: 84,081,231 (GRCm39)	D53G	probably benign	Het
Satb1	T	C	17: 52,116,217 (GRCm39)	D22G	possibly damaging	Het
Scarf2	T	C	16: 17,624,918 (GRCm39)	S658P	probably damaging	Het
Sfta2	T	A	17: 35,925,410 (GRCm39)	I29K	unknown	Het
Slc15a4	A	T	5: 127,681,742 (GRCm39)	S292T	probably benign	Het
Slc37a1	C	T	17: 31,559,237 (GRCm39)	T439I	probably damaging	Het
Slc4a9	C	A	18: 36,663,858 (GRCm39)	P294Q	probably damaging	Het
Slc52a3	T	C	2: 151,846,086 (GRCm39)	S16P	probably damaging	Het
Slc6a15	A	G	10: 103,244,163 (GRCm39)	I468V	probably benign	Het
Spag17	T	C	3: 99,934,547 (GRCm39)	S610P	possibly damaging	Het
Spag17	A	T	3: 99,941,475 (GRCm39)	D738V	probably benign	Het
Ssbp4	T	C	8: 71,050,617 (GRCm39)	R269G	unknown	Het
Tbl1xr1	A	G	3: 22,257,354 (GRCm39)	T406A	possibly damaging	Het
Tep1	A	T	14: 51,104,312 (GRCm39)	V194D	possibly damaging	Het
Thbs4	A	T	13: 92,909,767 (GRCm39)	C343*	probably null	Het
Tmed10	A	T	12: 85,391,065 (GRCm39)	S158T	possibly damaging	Het
Trbv3	T	A	6: 41,025,524 (GRCm39)	V38E	probably damaging	Het
Ttc6	T	C	12: 57,743,772 (GRCm39)	M1258T	probably damaging	Het
Ttn	T	C	2: 76,589,320 (GRCm39)	D21281G	probably damaging	Het
Usp54	T	C	14: 20,602,313 (GRCm39)	R1346G	probably damaging	Het
Vmn2r8	C	A	5: 108,956,449 (GRCm39)	E58*	probably null	Het
Vps13d	C	T	4: 144,867,824 (GRCm39)	E2009K		Het
Vps33b	T	C	7: 79,935,017 (GRCm39)	I320T	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Ythdf1	T	C	2: 180,553,786 (GRCm39)	Y143C	probably damaging	Het
Zfp213	C	T	17: 23,778,603 (GRCm39)		probably null	Het
Zfp219	A	T	14: 52,244,570 (GRCm39)	Y536*	probably null	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
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
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'- AGCGGCATTAGTTGATATGCC -3'
(R):5'- ACAAGGTTCTGAGCCTCCAC -3'

Sequencing Primer
(F):5'- GGCATTAGTTGATATGCCCTCCATC -3'
(R):5'- CCAGGATGGCAAGTCAGC -3'

Posted On

2019-10-07