Incidental Mutation 'R4461:Nek2'
ID 330127
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 041720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4461 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 191553556-191565162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 191554827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 180 (P180S)
Ref Sequence ENSEMBL: ENSMUSP00000027931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027931]
AlphaFold O35942
Predicted Effect probably damaging
Transcript: ENSMUST00000027931
AA Change: P180S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027931
Gene: ENSMUSG00000026622
AA Change: P180S

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192600
Meta Mutation Damage Score 0.8062 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (50/50)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 T C 17: 66,292,932 (GRCm39) probably null Het
Apex1 T C 14: 51,163,970 (GRCm39) V165A probably damaging Het
Btbd17 C T 11: 114,684,815 (GRCm39) D75N possibly damaging Het
Chd2 T C 7: 73,190,622 (GRCm39) probably benign Het
Coq10a T C 10: 128,200,347 (GRCm39) N138S possibly damaging Het
Ctbp1 A T 5: 33,408,357 (GRCm39) Y192N probably damaging Het
Cx3cl1 A G 8: 95,507,184 (GRCm39) *396W probably null Het
D6Ertd527e T C 6: 87,088,299 (GRCm39) I154T unknown Het
Dao T A 5: 114,157,987 (GRCm39) V203E probably damaging Het
Egr4 G A 6: 85,489,322 (GRCm39) A246V probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
H2-Eb2 T A 17: 34,552,497 (GRCm39) V114E possibly damaging Het
Hpgds A G 6: 65,100,618 (GRCm39) L120P probably damaging Het
Ikbke C T 1: 131,193,659 (GRCm39) V464I probably benign Het
Kank2 G A 9: 21,706,041 (GRCm39) Q326* probably null Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Klkb1 A G 8: 45,726,612 (GRCm39) S464P probably damaging Het
Kmt2a A G 9: 44,760,263 (GRCm39) Y529H probably damaging Het
Kmt2c A G 5: 25,504,874 (GRCm39) V3478A probably benign Het
Knl1 A C 2: 118,890,080 (GRCm39) N44T probably benign Het
Letm2 A G 8: 26,076,715 (GRCm39) C296R probably damaging Het
Lrrc37a A G 11: 103,355,180 (GRCm39) probably null Het
Med20 T C 17: 47,929,842 (GRCm39) V93A probably benign Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Muc1 A T 3: 89,138,870 (GRCm39) D493V probably damaging Het
Nin A T 12: 70,089,359 (GRCm39) M1352K probably benign Het
Or5aq1 T C 2: 86,966,005 (GRCm39) H220R probably benign Het
P3h3 A T 6: 124,822,531 (GRCm39) S547T probably benign Het
Pik3c2g C T 6: 139,787,407 (GRCm39) probably benign Het
Pkd1l3 A G 8: 110,359,345 (GRCm39) probably null Het
Pzp T C 6: 128,501,003 (GRCm39) I118M probably benign Het
Rps6ka5 C A 12: 100,537,123 (GRCm39) D536Y probably damaging Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Siglece T C 7: 43,300,929 (GRCm39) Q462R probably benign Het
Sirt3 T C 7: 140,444,913 (GRCm39) D295G possibly damaging Het
Snph G A 2: 151,435,767 (GRCm39) S318L probably benign Het
Snx18 T C 13: 113,753,731 (GRCm39) T401A probably damaging Het
Tefm A G 11: 80,028,875 (GRCm39) probably null Het
Thada T C 17: 84,733,665 (GRCm39) Y994C probably damaging Het
Trmt1 A G 8: 85,425,778 (GRCm39) N531D probably benign Het
Ttc17 A G 2: 94,196,916 (GRCm39) V477A probably benign Het
Ubxn10 T A 4: 138,448,187 (GRCm39) Q163L probably benign Het
Ulk4 A T 9: 120,985,950 (GRCm39) I908N possibly damaging Het
Zfp747l1 A G 7: 126,983,917 (GRCm39) L395P probably damaging Het
Zscan12 C T 13: 21,550,789 (GRCm39) S136L possibly damaging Het
Other mutations in Nek2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Nek2 APN 1 191,559,490 (GRCm39) splice site probably benign
IGL01753:Nek2 APN 1 191,557,598 (GRCm39) nonsense probably null
IGL02086:Nek2 APN 1 191,563,401 (GRCm39) missense probably benign 0.03
IGL02164:Nek2 APN 1 191,559,416 (GRCm39) missense probably benign 0.01
IGL02550:Nek2 APN 1 191,554,371 (GRCm39) missense probably damaging 1.00
R0398:Nek2 UTSW 1 191,559,473 (GRCm39) missense probably benign
R0610:Nek2 UTSW 1 191,554,627 (GRCm39) missense probably damaging 1.00
R0629:Nek2 UTSW 1 191,563,429 (GRCm39) missense probably benign 0.14
R0646:Nek2 UTSW 1 191,554,331 (GRCm39) missense probably damaging 1.00
R0976:Nek2 UTSW 1 191,559,349 (GRCm39) missense probably benign 0.10
R2054:Nek2 UTSW 1 191,553,764 (GRCm39) missense possibly damaging 0.79
R2112:Nek2 UTSW 1 191,559,320 (GRCm39) missense probably benign 0.08
R3873:Nek2 UTSW 1 191,559,320 (GRCm39) missense probably benign 0.08
R5947:Nek2 UTSW 1 191,561,597 (GRCm39) missense probably benign 0.17
R6807:Nek2 UTSW 1 191,554,729 (GRCm39) missense probably damaging 0.98
R8032:Nek2 UTSW 1 191,558,457 (GRCm39) missense probably damaging 0.96
R8692:Nek2 UTSW 1 191,554,745 (GRCm39) missense probably benign 0.00
R9709:Nek2 UTSW 1 191,563,289 (GRCm39) missense possibly damaging 0.74
R9780:Nek2 UTSW 1 191,554,738 (GRCm39) missense probably damaging 1.00
Z1176:Nek2 UTSW 1 191,559,351 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CCCTGAAAGAGTGTCACAGAAG -3'
(R):5'- GGATTTACTAGCAACCCAAGCC -3'

Sequencing Primer
(F):5'- AGGAGCGATGGTGGCCAC -3'
(R):5'- AAGCCTCAGTTCTTTGCATCTGAATG -3'
Posted On 2015-07-21