Incidental Mutation 'R2340:Kif2c'
ID 246700
Institutional Source Beutler Lab
Gene Symbol Kif2c
Ensembl Gene ENSMUSG00000028678
Gene Name kinesin family member 2C
Synonyms 4930402F02Rik
MMRRC Submission 040326-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2340 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 117016830-117039821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117027038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 320 (V320A)
Ref Sequence ENSEMBL: ENSMUSP00000064261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065896] [ENSMUST00000106436]
AlphaFold Q922S8
PDB Structure The Crystal Structure of the Minimal Functional Domain of the Microtubule Destabilizer KIF2C Complexed with Mg-ADP [X-RAY DIFFRACTION]
The Crystal Structure of the Minimal Functional Domain of the Microtubule Destabilizer KIF2C Complexed with Mg-AMPPNP [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000065896
AA Change: V320A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064261
Gene: ENSMUSG00000028678
AA Change: V320A

DomainStartEndE-ValueType
low complexity region 192 205 N/A INTRINSIC
KISc 252 590 1.04e-131 SMART
coiled coil region 615 647 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106436
AA Change: V269A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102044
Gene: ENSMUSG00000028678
AA Change: V269A

DomainStartEndE-ValueType
low complexity region 141 154 N/A INTRINSIC
KISc 201 539 1.04e-131 SMART
coiled coil region 564 596 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142205
Meta Mutation Damage Score 0.6536 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinesin-like protein that functions as a microtubule-dependent molecular motor. The encoded protein can depolymerize microtubules at the plus end, thereby promoting mitotic chromosome segregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abca13 A T 11: 9,349,165 (GRCm39) I3580F probably damaging Het
B3glct A G 5: 149,668,905 (GRCm39) K280E probably benign Het
Chd6 TG T 2: 160,807,679 (GRCm39) probably null Het
Clu T C 14: 66,218,358 (GRCm39) V406A probably damaging Het
D930020B18Rik A G 10: 121,490,741 (GRCm39) K114E probably damaging Het
Dsg1c T A 18: 20,400,945 (GRCm39) D149E probably damaging Het
Entrep2 A G 7: 64,425,565 (GRCm39) S176P probably benign Het
Fat2 A T 11: 55,160,922 (GRCm39) D3269E possibly damaging Het
Frmd4a A G 2: 4,591,187 (GRCm39) D69G probably damaging Het
Hacd1 G T 2: 14,040,698 (GRCm39) P186T probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Lypd2 T A 15: 74,606,103 (GRCm39) I12L probably benign Het
Midn G T 10: 79,985,946 (GRCm39) R12L possibly damaging Het
Or2b6 T C 13: 21,822,757 (GRCm39) K312R probably benign Het
Or8g34 A G 9: 39,373,105 (GRCm39) Y126C probably damaging Het
Or9q2 A G 19: 13,772,135 (GRCm39) V280A probably benign Het
Pkhd1 A T 1: 20,271,079 (GRCm39) V3158E probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Rad51d T C 11: 82,772,647 (GRCm39) D206G probably damaging Het
Rcan1 A G 16: 92,194,240 (GRCm39) F58L probably damaging Het
Rnf145 T C 11: 44,422,205 (GRCm39) I96T probably benign Het
Rnf216 A T 5: 143,066,089 (GRCm39) F500I probably damaging Het
Rph3al T C 11: 75,724,258 (GRCm39) T282A probably benign Het
Serpina11 T C 12: 103,951,002 (GRCm39) R240G probably benign Het
Slc12a2 T A 18: 58,033,122 (GRCm39) I400N probably benign Het
Slco1a4 C A 6: 141,787,103 (GRCm39) C28F probably benign Het
Sned1 T A 1: 93,184,174 (GRCm39) I134N probably damaging Het
Spock3 T A 8: 63,798,747 (GRCm39) M253K probably damaging Het
Tmem184b T A 15: 79,262,732 (GRCm39) M42L probably benign Het
Tnnt1 G A 7: 4,516,615 (GRCm39) probably benign Het
Ttll5 T A 12: 85,938,922 (GRCm39) S407T probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Zfat T C 15: 67,973,390 (GRCm39) E1117G probably damaging Het
Zfp606 A G 7: 12,227,016 (GRCm39) E321G possibly damaging Het
Other mutations in Kif2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Kif2c APN 4 117,035,443 (GRCm39) missense probably benign 0.01
IGL01020:Kif2c APN 4 117,024,101 (GRCm39) missense probably damaging 1.00
IGL01131:Kif2c APN 4 117,029,562 (GRCm39) missense probably damaging 1.00
IGL02131:Kif2c APN 4 117,035,150 (GRCm39) missense possibly damaging 0.88
IGL02455:Kif2c APN 4 117,029,551 (GRCm39) missense probably benign
IGL02556:Kif2c APN 4 117,019,802 (GRCm39) missense probably damaging 0.98
IGL03084:Kif2c APN 4 117,035,355 (GRCm39) missense possibly damaging 0.67
IGL03333:Kif2c APN 4 117,037,833 (GRCm39) missense possibly damaging 0.87
IGL03353:Kif2c APN 4 117,023,533 (GRCm39) missense probably benign 0.19
R0025:Kif2c UTSW 4 117,022,714 (GRCm39) missense probably damaging 1.00
R0466:Kif2c UTSW 4 117,029,489 (GRCm39) missense possibly damaging 0.83
R1069:Kif2c UTSW 4 117,035,350 (GRCm39) missense probably damaging 0.97
R1519:Kif2c UTSW 4 117,027,137 (GRCm39) missense probably damaging 1.00
R1594:Kif2c UTSW 4 117,035,385 (GRCm39) missense probably benign 0.02
R1789:Kif2c UTSW 4 117,024,558 (GRCm39) missense probably benign 0.18
R1894:Kif2c UTSW 4 117,019,420 (GRCm39) missense probably benign 0.02
R2830:Kif2c UTSW 4 117,039,645 (GRCm39) splice site probably null
R3734:Kif2c UTSW 4 117,019,843 (GRCm39) missense probably benign 0.02
R4634:Kif2c UTSW 4 117,035,437 (GRCm39) missense probably benign 0.04
R4720:Kif2c UTSW 4 117,028,946 (GRCm39) missense probably benign
R4908:Kif2c UTSW 4 117,023,608 (GRCm39) missense probably damaging 1.00
R5076:Kif2c UTSW 4 117,032,066 (GRCm39) unclassified probably benign
R5855:Kif2c UTSW 4 117,039,739 (GRCm39) unclassified probably benign
R6766:Kif2c UTSW 4 117,024,280 (GRCm39) missense probably benign
R6767:Kif2c UTSW 4 117,035,385 (GRCm39) missense probably benign 0.00
R6942:Kif2c UTSW 4 117,023,575 (GRCm39) missense probably damaging 1.00
R7378:Kif2c UTSW 4 117,019,226 (GRCm39) missense possibly damaging 0.46
R7526:Kif2c UTSW 4 117,039,629 (GRCm39) missense possibly damaging 0.46
R7797:Kif2c UTSW 4 117,028,940 (GRCm39) missense probably benign 0.00
R8087:Kif2c UTSW 4 117,022,615 (GRCm39) missense possibly damaging 0.92
R9123:Kif2c UTSW 4 117,024,291 (GRCm39) missense probably benign 0.09
R9319:Kif2c UTSW 4 117,035,445 (GRCm39) critical splice acceptor site probably null
U24488:Kif2c UTSW 4 117,039,639 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATCTAAGGCTGGGCTGCTATAG -3'
(R):5'- GAGCAGCCCCTGAAATCTTC -3'

Sequencing Primer
(F):5'- GTGACATGGCAGGTCCCAAAC -3'
(R):5'- GAAATCTTCTCCTTCTGCAGAACTGG -3'
Posted On 2014-10-30