Incidental Mutation 'R7025:Kif2a'
ID 545924
Institutional Source Beutler Lab
Gene Symbol Kif2a
Ensembl Gene ENSMUSG00000021693
Gene Name kinesin family member 2A
Synonyms Kns2, M-kinesin, Kif2
MMRRC Submission 045126-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7025 (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 107119102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 267 (Y267H)
Ref Sequence ENSEMBL: ENSMUSP00000125644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022204] [ENSMUST00000117423] [ENSMUST00000117539] [ENSMUST00000122233] [ENSMUST00000159772]
AlphaFold P28740
Predicted Effect probably damaging
Transcript: ENSMUST00000022204
AA Change: Y267H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022204
Gene: ENSMUSG00000021693
AA Change: Y267H

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 damaging
Transcript: ENSMUST00000117423
AA Change: Y221H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113921
Gene: ENSMUSG00000021693
AA Change: Y221H

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 damaging
Transcript: ENSMUST00000117539
AA Change: Y251H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113361
Gene: ENSMUSG00000021693
AA Change: Y251H

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 damaging
Transcript: ENSMUST00000122233
AA Change: Y240H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112715
Gene: ENSMUSG00000021693
AA Change: Y240H

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: ENSMUST00000146395
SMART Domains Protein: ENSMUSP00000116070
Gene: ENSMUSG00000021693

DomainStartEndE-ValueType
low complexity region 45 57 N/A INTRINSIC
low complexity region 74 85 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159772
AA Change: Y267H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125644
Gene: ENSMUSG00000021693
AA Change: Y267H

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: 100.0%
  • 10x: 99.6%
  • 20x: 98.8%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd4 T A 11: 102,995,364 (GRCm39) L90M probably damaging Het
Acot7 T C 4: 152,262,646 (GRCm39) S7P unknown Het
Ahcyl2 T C 6: 29,908,420 (GRCm39) Y388H probably damaging Het
Atp1a2 T A 1: 172,112,117 (GRCm39) R593* probably null Het
Bicral T C 17: 47,112,594 (GRCm39) T869A probably benign Het
Brca2 C T 5: 150,463,943 (GRCm39) P1236S probably benign Het
Cacna2d1 C T 5: 16,557,666 (GRCm39) Q699* probably null Het
Ccser2 T C 14: 36,661,964 (GRCm39) N407D probably damaging Het
Cd300lg A G 11: 101,933,900 (GRCm39) Y49C probably damaging Het
Cdh12 C A 15: 21,358,900 (GRCm39) T108K probably damaging Het
Ctnnd1 A T 2: 84,440,950 (GRCm39) I715K possibly damaging Het
Cyp17a1 T A 19: 46,659,419 (GRCm39) D137V probably damaging Het
Dbr1 A G 9: 99,458,036 (GRCm39) T19A probably damaging Het
Dnah3 C T 7: 119,629,233 (GRCm39) A1441T possibly damaging Het
Dpt G A 1: 164,624,508 (GRCm39) D70N probably damaging Het
Elk4 C A 1: 131,947,107 (GRCm39) P366Q probably damaging Het
Eml4 A C 17: 83,732,740 (GRCm39) D131A probably benign Het
Faap24 A G 7: 35,092,296 (GRCm39) I207T possibly damaging Het
Fam219a T C 4: 41,521,925 (GRCm39) S41G probably benign Het
Gask1b T C 3: 79,793,855 (GRCm39) Y108H probably damaging Het
Ifi203 T C 1: 173,755,951 (GRCm39) probably benign Het
Inpp4a T C 1: 37,408,504 (GRCm39) V295A probably benign Het
Kprp T A 3: 92,732,504 (GRCm39) Q182L probably benign Het
Krt90 T C 15: 101,465,610 (GRCm39) K337R possibly damaging Het
Lrp2 T A 2: 69,313,372 (GRCm39) Y2453F possibly damaging Het
Magel2 A C 7: 62,029,535 (GRCm39) Y813S unknown Het
Myh7 C A 14: 55,212,101 (GRCm39) E1548* probably null Het
Myh8 A G 11: 67,188,365 (GRCm39) T1009A probably benign Het
Nab2 T A 10: 127,502,377 (GRCm39) probably benign Het
Neb T C 2: 52,186,285 (GRCm39) D929G possibly damaging Het
Nelfb A C 2: 25,100,505 (GRCm39) V155G probably damaging Het
Nmur1 C A 1: 86,315,570 (GRCm39) M65I possibly damaging Het
Nop56 C T 2: 130,119,801 (GRCm39) R81* probably null Het
Npnt C T 3: 132,614,157 (GRCm39) C47Y probably damaging Het
Nrp1 G T 8: 129,207,435 (GRCm39) C610F probably damaging Het
Or4a71 T A 2: 89,357,948 (GRCm39) I269F probably damaging Het
Or5d45 T C 2: 88,153,606 (GRCm39) K148E probably damaging Het
Or6c63-ps1 T A 10: 128,900,544 (GRCm39) M1L probably benign Het
Pax5 G A 4: 44,679,501 (GRCm39) Q93* probably null Het
Pcnt G T 10: 76,239,669 (GRCm39) Q1273K probably damaging Het
Pde4dip G A 3: 97,631,499 (GRCm39) Q1137* probably null Het
Pfas A T 11: 68,881,586 (GRCm39) D959E probably benign Het
Pira13 T A 7: 3,824,261 (GRCm39) K629* probably null Het
Prex1 TCCGACCCC TCCGACCCCGACCCC 2: 166,455,107 (GRCm39) probably benign Het
Prpf40b C T 15: 99,204,281 (GRCm39) Q182* probably null Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rpe65 A C 3: 159,328,322 (GRCm39) E406A probably damaging Het
Serpina3k A T 12: 104,307,401 (GRCm39) Y211F probably benign Het
Shkbp1 T C 7: 27,054,706 (GRCm39) I65V possibly damaging Het
Slc22a29 G A 19: 8,137,944 (GRCm39) P544S probably benign Het
Stab2 T C 10: 86,686,701 (GRCm39) D2281G probably damaging Het
Tjp2 A G 19: 24,110,052 (GRCm39) M64T probably benign Het
Tnfrsf8 C T 4: 145,000,973 (GRCm39) V378I possibly damaging Het
Trpm1 A T 7: 63,876,462 (GRCm39) probably null Het
Ubqln3 A G 7: 103,790,482 (GRCm39) I536T probably benign Het
Vmn1r44 A G 6: 89,870,736 (GRCm39) T161A possibly damaging Het
Vmn2r108 T A 17: 20,691,345 (GRCm39) I393F possibly damaging 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
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
R9569:Kif2a UTSW 13 107,105,246 (GRCm39) missense probably benign 0.00
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'- TTACACTCCTGGAGGGCTATG -3'
(R):5'- CCCACATGGAGCTGGTTTAG -3'

Sequencing Primer
(F):5'- CTCCTGGAGGGCTATGCTAAAAAC -3'
(R):5'- GTGTGTGCATACAGTCACAC -3'
Posted On 2019-05-13