Incidental Mutation 'R9569:Kif2a'
ID 721864
Institutional Source Beutler Lab
Gene Symbol Kif2a
Ensembl Gene ENSMUSG00000021693
Gene Name kinesin family member 2A
Synonyms Kns2, M-kinesin, Kif2
MMRRC Submission 068966-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9569 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 107095504-107158634 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107105246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 565 (I565T)
Ref Sequence ENSEMBL: ENSMUSP00000022204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022204] [ENSMUST00000117423] [ENSMUST00000117539] [ENSMUST00000122233] [ENSMUST00000159772]
AlphaFold P28740
Predicted Effect probably benign
Transcript: ENSMUST00000022204
AA Change: I565T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022204
Gene: ENSMUSG00000021693
AA Change: I565T

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
low complexity region 159 183 N/A INTRINSIC
KISc 220 560 6.56e-147 SMART
low complexity region 613 625 N/A INTRINSIC
coiled coil region 660 698 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117423
AA Change: I519T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113921
Gene: ENSMUSG00000021693
AA Change: I519T

DomainStartEndE-ValueType
low complexity region 46 58 N/A INTRINSIC
low complexity region 113 137 N/A INTRINSIC
KISc 174 514 6.56e-147 SMART
low complexity region 567 579 N/A INTRINSIC
coiled coil region 614 652 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117539
AA Change: I549T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000113361
Gene: ENSMUSG00000021693
AA Change: I549T

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
low complexity region 143 167 N/A INTRINSIC
KISc 204 544 6.56e-147 SMART
low complexity region 597 609 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122233
AA Change: I576T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112715
Gene: ENSMUSG00000021693
AA Change: I576T

DomainStartEndE-ValueType
low complexity region 46 58 N/A INTRINSIC
low complexity region 132 156 N/A INTRINSIC
KISc 193 533 4.33e-147 SMART
low complexity region 542 556 N/A INTRINSIC
low complexity region 624 636 N/A INTRINSIC
coiled coil region 671 709 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159772
AA Change: I603T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125644
Gene: ENSMUSG00000021693
AA Change: I603T

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
low complexity region 159 183 N/A INTRINSIC
KISc 220 560 4.33e-147 SMART
low complexity region 569 583 N/A INTRINSIC
low complexity region 651 663 N/A INTRINSIC
coiled coil region 698 736 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice display neonatal lethality, abnormal lamination of the cerebral cortex, hippocampus and cerebellum, impaired neuronal migration, and abnormal axon outgrowth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 T A 1: 60,503,763 (GRCm39) V356D probably damaging Het
Adgrd1 T C 5: 129,256,701 (GRCm39) V690A possibly damaging Het
Apba2 T C 7: 64,393,138 (GRCm39) M553T possibly damaging Het
Apeh C T 9: 107,971,609 (GRCm39) V13M unknown Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Apol7e C T 15: 77,601,933 (GRCm39) T177I probably damaging Het
Bltp1 T C 3: 37,066,770 (GRCm39) M211T Het
Bub1b T C 2: 118,468,884 (GRCm39) I883T probably damaging Het
C9 T C 15: 6,489,062 (GRCm39) S140P probably damaging Het
Cbfa2t2 T A 2: 154,346,485 (GRCm39) I64N probably benign Het
Cd180 A T 13: 102,842,486 (GRCm39) I511F possibly damaging Het
Cic T C 7: 24,972,120 (GRCm39) V617A possibly damaging Het
Clca3a2 A C 3: 144,513,075 (GRCm39) probably null Het
D5Ertd579e T C 5: 36,759,979 (GRCm39) T1394A probably damaging Het
Dclk1 A T 3: 55,387,852 (GRCm39) E422D probably benign Het
Depdc5 A T 5: 33,025,321 (GRCm39) D21V probably damaging Het
Dis3l A G 9: 64,236,829 (GRCm39) F40S unknown Het
Duox1 T C 2: 122,148,971 (GRCm39) V82A probably benign Het
Dus2 T C 8: 106,771,507 (GRCm39) V211A probably damaging Het
Eif2ak4 G A 2: 118,251,316 (GRCm39) S326N probably benign Het
Fat3 A C 9: 15,830,495 (GRCm39) L153R Het
Gpx8 C T 13: 113,182,125 (GRCm39) V103I probably damaging Het
Gtf2a1l A G 17: 89,001,948 (GRCm39) D268G probably benign Het
Hc T C 2: 34,926,359 (GRCm39) I342V probably benign Het
Hsp90ab1 T A 17: 45,879,878 (GRCm39) D546V possibly damaging Het
Ifi206 T G 1: 173,314,209 (GRCm39) D77A Het
Igfbp1 A G 11: 7,147,881 (GRCm39) probably benign Het
Kdm3a T C 6: 71,584,434 (GRCm39) D559G probably benign Het
Krt1c T C 15: 101,724,924 (GRCm39) T229A probably damaging Het
Lcmt2 G A 2: 120,970,522 (GRCm39) A187V probably damaging Het
Mapk8ip1 A G 2: 92,217,599 (GRCm39) M241T probably benign Het
Mup15 T C 4: 61,357,875 (GRCm39) probably benign Het
Myo9b T C 8: 71,811,629 (GRCm39) V1912A probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Naip5 T C 13: 100,359,821 (GRCm39) T472A probably benign Het
Net1 A G 13: 3,938,518 (GRCm39) F123S probably benign Het
Or1j8 T C 2: 36,191,946 (GRCm39) Y132H probably damaging Het
Or52n2 C T 7: 104,542,525 (GRCm39) M103I possibly damaging Het
Or5h17 A G 16: 58,820,228 (GRCm39) Y60C probably damaging Het
Pcdhb13 T C 18: 37,576,153 (GRCm39) F177S probably damaging Het
Pclo T C 5: 14,907,065 (GRCm39) probably null Het
Perm1 A G 4: 156,303,039 (GRCm39) T528A probably benign Het
Pik3c2a C T 7: 115,957,939 (GRCm39) A1116T possibly damaging Het
Prox2 G A 12: 85,141,766 (GRCm39) Q146* probably null Het
Psd A T 19: 46,308,717 (GRCm39) C639S possibly damaging Het
Rffl T A 11: 82,703,264 (GRCm39) T220S probably benign Het
Scn2a A G 2: 65,560,622 (GRCm39) D1284G probably damaging Het
Scube1 T C 15: 83,513,605 (GRCm39) Y385C probably damaging Het
Sec14l3 A T 11: 4,026,324 (GRCm39) D388V probably damaging Het
Slc26a1 G T 5: 108,819,460 (GRCm39) Q596K probably benign Het
Slc6a19 T C 13: 73,834,030 (GRCm39) T343A probably benign Het
Slc7a4 A G 16: 17,393,262 (GRCm39) V179A Het
Sox14 T G 9: 99,757,562 (GRCm39) D49A Het
Spata31g1 G C 4: 42,971,740 (GRCm39) V358L probably benign Het
Timm22 A G 11: 76,298,196 (GRCm39) S56G probably benign Het
Tmub2 G A 11: 102,179,153 (GRCm39) W322* probably null Het
Tsc22d4 A G 5: 137,756,428 (GRCm39) T8A probably benign Het
Ttn T C 2: 76,539,652 (GRCm39) I34445V probably benign Het
Tyms A T 5: 30,268,360 (GRCm39) Y196* probably null Het
Ube2o G A 11: 116,434,823 (GRCm39) T546M probably damaging Het
Umodl1 A G 17: 31,217,143 (GRCm39) Y1125C probably damaging Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 (GRCm39) probably benign Het
Unk A T 11: 115,950,035 (GRCm39) Q747L probably damaging Het
Vmn1r170 A G 7: 23,306,294 (GRCm39) E232G probably benign Het
Vps41 A G 13: 19,013,396 (GRCm39) Y338C possibly damaging Het
Washc5 T C 15: 59,215,980 (GRCm39) M800V probably benign Het
Wt1 T A 2: 104,993,711 (GRCm39) I348N possibly damaging Het
Xirp2 A G 2: 67,341,242 (GRCm39) Y1161C probably damaging Het
Xpo7 A G 14: 70,906,140 (GRCm39) M1001T possibly damaging Het
Yeats2 A T 16: 19,972,902 (GRCm39) R19W probably damaging Het
Zfp142 T C 1: 74,615,386 (GRCm39) T476A probably damaging Het
Zfp229 T C 17: 21,964,573 (GRCm39) W268R possibly damaging Het
Zfp473 A G 7: 44,388,971 (GRCm39) F50S probably damaging Het
Zfp975 A T 7: 42,311,413 (GRCm39) M400K probably benign Het
Zkscan5 A G 5: 145,144,419 (GRCm39) M150V probably benign Het
Znfx1 T A 2: 166,897,875 (GRCm39) I350F Het
Other mutations in Kif2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00934:Kif2a APN 13 107,105,301 (GRCm39) splice site probably benign
IGL01640:Kif2a APN 13 107,111,060 (GRCm39) missense probably damaging 1.00
IGL02524:Kif2a APN 13 107,100,863 (GRCm39) missense possibly damaging 0.82
R0088:Kif2a UTSW 13 107,111,940 (GRCm39) missense probably damaging 1.00
R0276:Kif2a UTSW 13 107,113,158 (GRCm39) splice site probably benign
R1233:Kif2a UTSW 13 107,123,840 (GRCm39) missense probably damaging 1.00
R1345:Kif2a UTSW 13 107,130,423 (GRCm39) missense probably damaging 0.99
R1772:Kif2a UTSW 13 107,114,640 (GRCm39) intron probably benign
R1900:Kif2a UTSW 13 107,113,503 (GRCm39) missense possibly damaging 0.46
R1932:Kif2a UTSW 13 107,114,599 (GRCm39) missense probably benign 0.00
R2364:Kif2a UTSW 13 107,113,344 (GRCm39) missense probably damaging 1.00
R3177:Kif2a UTSW 13 107,113,264 (GRCm39) missense probably damaging 1.00
R3277:Kif2a UTSW 13 107,113,264 (GRCm39) missense probably damaging 1.00
R4646:Kif2a UTSW 13 107,098,693 (GRCm39) missense probably damaging 1.00
R5566:Kif2a UTSW 13 107,130,432 (GRCm39) splice site probably null 1.00
R5761:Kif2a UTSW 13 107,098,672 (GRCm39) missense probably benign 0.05
R5797:Kif2a UTSW 13 107,111,884 (GRCm39) missense probably damaging 1.00
R6812:Kif2a UTSW 13 107,106,259 (GRCm39) missense probably benign 0.00
R7025:Kif2a UTSW 13 107,119,102 (GRCm39) missense probably damaging 1.00
R7792:Kif2a UTSW 13 107,124,490 (GRCm39) missense probably benign 0.06
R8679:Kif2a UTSW 13 107,116,049 (GRCm39) missense probably damaging 0.98
R8972:Kif2a UTSW 13 107,115,543 (GRCm39) missense probably damaging 1.00
R9627:Kif2a UTSW 13 107,158,558 (GRCm39) missense possibly damaging 0.56
R9733:Kif2a UTSW 13 107,106,304 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCACAGCTCTATTCCAGTGAG -3'
(R):5'- GACCTACAAAGTGACATCATCAGTC -3'

Sequencing Primer
(F):5'- ACAGCTCTATTCCAGTGAGACTGTAC -3'
(R):5'- AAGTGACATCATCAGTCCTGCTG -3'
Posted On 2022-08-09