Mutagenetix > Incidental Mutation

Incidental Mutation 'R9709:Nek2'

729937

Institutional Source

Beutler Lab

Gene Symbol

Nek2

Ensembl Gene

ENSMUSG00000026622

Gene Name

NIMA (never in mitosis gene a)-related expressed kinase 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9709 (G1)

Quality Score

183.009

Status

Not validated

Chromosome

Chromosomal Location

191821444-191833050 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 191831177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 384 (H384Q)

Ref Sequence

ENSEMBL: ENSMUSP00000027931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027931]

AlphaFold

O35942

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027931
AA Change: H384Q

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027931
Gene: ENSMUSG00000026622
AA Change: H384Q

Domain	Start	End	E-Value	Type
S_TKc	8	271	5.59e-86	SMART
low complexity region	277	292	N/A	INTRINSIC
coiled coil region	339	355	N/A	INTRINSIC
low complexity region	414	426	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	T	C	2: 91,281,754	Q250R	probably benign	Het
1810062G17Rik	T	C	3: 36,476,207	S25P	unknown	Het
4921539E11Rik	A	G	4: 103,235,481	I268T	unknown	Het
4930507D05Rik	T	A	10: 62,449,802	C102S	unknown	Het
Abca14	T	A	7: 120,289,516	Y1228*	probably null	Het
Abca17	T	C	17: 24,298,960	I792V	probably benign	Het
Abca6	C	A	11: 110,211,763	L878F	probably benign	Het
Adk	C	A	14: 21,076,318	T4N	probably benign	Het
Atg2b	A	T	12: 105,644,881	F1264I	probably damaging	Het
Atl3	T	G	19: 7,530,556	S358A	probably benign	Het
Atp8a2	T	A	14: 60,033,738	Y248F	probably damaging	Het
Bcas3	T	C	11: 85,583,923	V785A	probably damaging	Het
Cckar	C	T	5: 53,702,859		probably null	Het
Cdc42se2	A	G	11: 54,723,591	F47L	probably benign	Het
Cfap58	T	C	19: 47,975,553	L540P	probably damaging	Het
Copg1	A	G	6: 87,891,975	E117G	probably benign	Het
Cul2	C	T	18: 3,431,560	T655M	probably damaging	Het
Ddi2	T	C	4: 141,685,118	Q161R	probably benign	Het
Dffb	T	C	4: 153,974,664	Y52C	probably damaging	Het
Dll1	T	C	17: 15,370,936	Q249R	probably benign	Het
Dnmt3a	T	A	12: 3,907,701	I894N	probably damaging	Het
Fam109b	C	G	15: 82,343,334	A18G	probably damaging	Het
Fam109b	G	T	15: 82,343,336	D19Y	probably damaging	Het
Fshr	G	A	17: 88,985,837	T471I	probably damaging	Het
Gabpb1	C	T	2: 126,658,568	V4I	probably benign	Het
Gbp9	T	C	5: 105,083,676	Q348R	probably damaging	Het
Gm14124	T	A	2: 150,268,385	C332S	possibly damaging	Het
Gm21149	G	A	5: 15,472,112	S248F	unknown	Het
Gm21885	G	A	11: 94,284,734	S65N	probably benign	Het
Gpr152	C	A	19: 4,142,641	H60Q	probably benign	Het
Hdac9	A	G	12: 34,312,603	S612P	probably benign	Het
Hhipl2	A	G	1: 183,418,816	D102G	possibly damaging	Het
Hspa9	A	G	18: 34,940,241	V530A	possibly damaging	Het
Igfbp7	T	C	5: 77,401,537	N173S	unknown	Het
Ighv1-75	A	G	12: 115,834,171	S44P	possibly damaging	Het
Iqgap3	C	A	3: 88,108,869	F986L	probably damaging	Het
Itgax	G	T	7: 128,136,328	G523W	probably damaging	Het
Itih3	A	G	14: 30,915,630		probably null	Het
Kcnb2	T	C	1: 15,710,299	I465T	probably benign	Het
Kmt2b	A	G	7: 30,579,803	V1478A	probably damaging	Het
Ky	A	T	9: 102,542,212	I473F	probably damaging	Het
Lbr	A	G	1: 181,838,469	V25A	probably damaging	Het
Ldlr	A	G	9: 21,745,839	T751A	probably benign	Het
Lrrtm4	A	G	6: 80,809,173	E587G	probably damaging	Het
Lvrn	A	C	18: 46,873,780		probably null	Het
Mast2	A	T	4: 116,315,847	C594S	probably damaging	Het
Mast4	A	G	13: 102,774,203	V644A	probably damaging	Het
Mcm5	T	C	8: 75,115,976	Y293H	probably damaging	Het
Mthfd2	A	T	6: 83,306,683	V339E	possibly damaging	Het
Muc4	A	T	16: 32,770,270	I881F		Het
Myo7a	A	G	7: 98,094,329	S372P	possibly damaging	Het
Nbea	T	A	3: 55,786,458	K2180*	probably null	Het
Neb	T	C	2: 52,211,495	D4621G	probably damaging	Het
Nefh	C	T	11: 4,940,042	S859N	probably benign	Het
Nfkb2	A	G	19: 46,310,343	E645G	probably benign	Het
Nin	G	T	12: 70,102,694	P47Q		Het
Nit1	C	A	1: 171,343,739	K178N	probably benign	Het
Nrap	C	A	19: 56,329,020	K1433N	probably damaging	Het
Nrap	T	C	19: 56,329,021	K1433R	probably benign	Het
Nup85	A	G	11: 115,566,637	Y55C	possibly damaging	Het
Olfr237-ps1	G	T	6: 43,153,535	V77F	possibly damaging	Het
Pde1b	A	G	15: 103,503,558	K29E	probably benign	Het
Pik3cg	A	T	12: 32,176,688	Y1067N	probably benign	Het
Pkd1l1	C	T	11: 8,849,016	G2249S	probably damaging	Het
Plppr4	T	A	3: 117,328,327	T201S	possibly damaging	Het
Polr1e	A	G	4: 45,018,678	T3A	probably benign	Het
Pou6f2	G	T	13: 18,239,804	Q129K	unknown	Het
Ppil4	T	A	10: 7,799,577	D163E	probably benign	Het
Pradc1	A	G	6: 85,447,970	F82L	probably benign	Het
Psd3	T	C	8: 67,741,762	K784R	probably null	Het
Ptgs1	C	A	2: 36,251,192	S550R	probably damaging	Het
Pxylp1	A	G	9: 96,828,977	L153P	probably damaging	Het
Rgs10	A	C	7: 128,374,005	F146C	probably damaging	Het
Rimbp2	G	A	5: 128,797,811	P239S	probably damaging	Het
Rp1	A	G	1: 4,042,032	Y1199H	unknown	Het
Rrp12	A	T	19: 41,868,792	M1181K	probably benign	Het
Rundc3b	T	C	5: 8,520,982	N279S	probably benign	Het
Sbf2	G	T	7: 110,428,307	P494Q	probably damaging	Het
Scnn1b	A	G	7: 121,910,470	T281A	probably benign	Het
Scube2	A	T	7: 109,831,764	N409K	probably damaging	Het
Serpina3m	A	C	12: 104,392,749	D340A	probably damaging	Het
Sez6	G	A	11: 77,974,295	E623K	possibly damaging	Het
Sgpp2	T	C	1: 78,390,563	I111T	probably benign	Het
Shprh	C	T	10: 11,162,830	T443I	possibly damaging	Het
Sis	T	A	3: 72,891,741	Y1726F	possibly damaging	Het
Slc17a9	T	C	2: 180,732,528	L129P	probably damaging	Het
Slc1a5	T	A	7: 16,793,804	F342I	probably benign	Het
Slc4a4	T	A	5: 89,040,346		probably null	Het
Slco3a1	T	C	7: 74,303,209	E534G	possibly damaging	Het
Smok2b	A	T	17: 13,235,165	I71F	possibly damaging	Het
Tmbim7	A	T	5: 3,661,809	H18L	probably damaging	Het
Tmem151a	A	T	19: 5,081,848	Y443*	probably null	Het
Tnks1bp1	T	G	2: 85,071,781	S1674A	probably benign	Het
Trappc11	T	A	8: 47,493,313	I1095F	probably damaging	Het
Trim11	A	G	11: 58,982,038	R183G	possibly damaging	Het
Trim29	A	G	9: 43,320,500	D348G	probably benign	Het
Ttc28	A	T	5: 111,285,771	S2224C	probably damaging	Het
Vps13d	C	T	4: 145,149,345	V1537M		Het
Zfp184	A	G	13: 21,959,495	D457G	possibly damaging	Het
Znrd1as	A	T	17: 36,964,357	R7S	probably benign	Het

Other mutations in Nek2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Nek2	APN	1	191827378	splice site	probably benign
IGL01753:Nek2	APN	1	191825486	nonsense	probably null
IGL02086:Nek2	APN	1	191831289	missense	probably benign	0.03
IGL02164:Nek2	APN	1	191827304	missense	probably benign	0.01
IGL02550:Nek2	APN	1	191822259	missense	probably damaging	1.00
R0398:Nek2	UTSW	1	191827361	missense	probably benign
R0610:Nek2	UTSW	1	191822515	missense	probably damaging	1.00
R0629:Nek2	UTSW	1	191831317	missense	probably benign	0.14
R0646:Nek2	UTSW	1	191822219	missense	probably damaging	1.00
R0976:Nek2	UTSW	1	191827237	missense	probably benign	0.10
R2054:Nek2	UTSW	1	191821652	missense	possibly damaging	0.79
R2112:Nek2	UTSW	1	191827208	missense	probably benign	0.08
R3873:Nek2	UTSW	1	191827208	missense	probably benign	0.08
R4461:Nek2	UTSW	1	191822715	missense	probably damaging	1.00
R5947:Nek2	UTSW	1	191829485	missense	probably benign	0.17
R6807:Nek2	UTSW	1	191822617	missense	probably damaging	0.98
R8032:Nek2	UTSW	1	191826345	missense	probably damaging	0.96
R8692:Nek2	UTSW	1	191822633	missense	probably benign	0.00
R9780:Nek2	UTSW	1	191822626	missense	probably damaging	1.00
Z1176:Nek2	UTSW	1	191827239	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GTAACAGCCAGTGTGAGTCC -3'
(R):5'- TGGGTTGTCAGTATCAACACTG -3'

Sequencing Primer
(F):5'- AGTGTGAGTCCCTCCTGC -3'
(R):5'- GACCCAGCTCCATGCCTTG -3'

Posted On

2022-10-06