Incidental Mutation 'R5566:Kif2a'
ID 436860
Institutional Source Beutler Lab
Gene Symbol Kif2a
Ensembl Gene ENSMUSG00000021693
Gene Name kinesin family member 2A
Synonyms Kns2, M-kinesin, Kif2
MMRRC Submission 043123-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5566 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 107095504-107158634 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 107130432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022204] [ENSMUST00000117423] [ENSMUST00000117539] [ENSMUST00000122233] [ENSMUST00000159772]
AlphaFold P28740
Predicted Effect probably null
Transcript: ENSMUST00000022204
AA Change: M28K

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022204
Gene: ENSMUSG00000021693
AA Change: M28K

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 noncoding transcript
Transcript: ENSMUST00000104073
Predicted Effect probably null
Transcript: ENSMUST00000117423
AA Change: M1K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113921
Gene: ENSMUSG00000021693
AA Change: M1K

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 null
Transcript: ENSMUST00000117539
AA Change: M12K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113361
Gene: ENSMUSG00000021693
AA Change: M12K

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 null
Transcript: ENSMUST00000122233
AA Change: M1K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112715
Gene: ENSMUSG00000021693
AA Change: M1K

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 null
Transcript: ENSMUST00000125038
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125591
Gene: ENSMUSG00000021693
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 46 58 N/A INTRINSIC
Blast:KISc 79 267 3e-90 BLAST
PDB:2GRY|A 125 267 8e-77 PDB
SCOP:d1f9va_ 196 270 4e-18 SMART
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 null
Transcript: ENSMUST00000159772
AA Change: M28K

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125644
Gene: ENSMUSG00000021693
AA Change: M28K

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,244,615 (GRCm39) Y2159* probably null Het
Abca3 A G 17: 24,602,901 (GRCm39) T499A probably benign Het
Abcb5 T A 12: 118,899,702 (GRCm39) T322S probably damaging Het
Adamts4 T A 1: 171,078,419 (GRCm39) M1K probably null Het
Adamtsl4 C T 3: 95,592,765 (GRCm39) probably null Het
Adh4 A T 3: 138,129,950 (GRCm39) I259F probably damaging Het
Aff3 G A 1: 38,220,505 (GRCm39) S1135F probably damaging Het
Arhgef16 T C 4: 154,370,105 (GRCm39) D280G probably benign Het
Baiap3 T C 17: 25,470,707 (GRCm39) E71G probably damaging Het
Calb2 A G 8: 110,879,332 (GRCm39) I91T possibly damaging Het
Ccr5 A G 9: 123,924,697 (GRCm39) N100S probably benign Het
Cep57 G T 9: 13,732,871 (GRCm39) R25S probably damaging Het
Chadl A G 15: 81,580,079 (GRCm39) L52P probably damaging Het
Clec12b T C 6: 129,362,438 (GRCm39) T6A probably damaging Het
Cnga1 T A 5: 72,775,593 (GRCm39) N43Y probably damaging Het
Col20a1 A T 2: 180,628,316 (GRCm39) probably null Het
Csmd2 T C 4: 128,356,682 (GRCm39) probably null Het
Ctps1 A T 4: 120,411,300 (GRCm39) probably null Het
Cyp39a1 T A 17: 43,996,099 (GRCm39) W224R possibly damaging Het
Defb29 A T 2: 152,380,848 (GRCm39) Y54N probably benign Het
Dmbt1 A T 7: 130,708,003 (GRCm39) D1241V probably damaging Het
Dnah1 A T 14: 30,996,323 (GRCm39) I2671K probably benign Het
Dnah2 C A 11: 69,407,395 (GRCm39) E158* probably null Het
Dynlt2b A G 16: 32,238,718 (GRCm39) Y31C probably damaging Het
Edar A G 10: 58,464,463 (GRCm39) S59P possibly damaging Het
Egr2 T A 10: 67,376,596 (GRCm39) C339* probably null Het
Eif5b G A 1: 38,084,765 (GRCm39) V871I possibly damaging Het
Eif5b G A 1: 38,090,328 (GRCm39) G1169E probably damaging Het
Erap1 A G 13: 74,810,531 (GRCm39) Y290C probably damaging Het
Fastkd5 T A 2: 130,456,221 (GRCm39) T790S possibly damaging Het
Fkrp C T 7: 16,544,849 (GRCm39) V338M probably damaging Het
Gabra6 T C 11: 42,198,317 (GRCm39) T378A probably benign Het
Gm4924 C A 10: 82,214,475 (GRCm39) Q17K possibly damaging Het
Gm9847 A G 12: 14,545,000 (GRCm39) noncoding transcript Het
Gpr108 A G 17: 57,543,919 (GRCm39) F429S probably damaging Het
Gpr162 G A 6: 124,837,901 (GRCm39) R250* probably null Het
Gtf2a1 A T 12: 91,534,368 (GRCm39) D295E possibly damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Herc1 T A 9: 66,372,819 (GRCm39) M3125K possibly damaging Het
Hoxb6 T A 11: 96,191,580 (GRCm39) Y167* probably null Het
Hrob T A 11: 102,146,659 (GRCm39) S312T probably damaging Het
Htt T C 5: 35,006,419 (GRCm39) Y1443H probably damaging Het
Il21r A G 7: 125,224,470 (GRCm39) D28G probably damaging Het
Impact T G 18: 13,107,819 (GRCm39) V29G probably damaging Het
Itpr3 A G 17: 27,334,926 (GRCm39) T2147A possibly damaging Het
Itsn2 T A 12: 4,676,554 (GRCm39) L50Q probably damaging Het
Jade1 A G 3: 41,559,338 (GRCm39) D473G possibly damaging Het
Kif26a T G 12: 112,123,788 (GRCm39) L131R probably damaging Het
Lrsam1 C A 2: 32,831,870 (GRCm39) Q368H probably damaging Het
Macf1 T C 4: 123,328,957 (GRCm39) Q4592R probably damaging Het
Map3k5 T C 10: 19,986,465 (GRCm39) V893A probably damaging Het
Med13l G T 5: 118,866,730 (GRCm39) V595F possibly damaging Het
Mocs1 T A 17: 49,761,211 (GRCm39) L435Q possibly damaging Het
Mtmr4 T C 11: 87,495,356 (GRCm39) L471P probably damaging Het
Myo7a T C 7: 97,714,023 (GRCm39) E1616G possibly damaging Het
Nacad T A 11: 6,552,136 (GRCm39) S352C probably damaging Het
Nfat5 T A 8: 108,095,767 (GRCm39) M817K possibly damaging Het
Ofcc1 C A 13: 40,248,129 (GRCm39) L668F probably damaging Het
Or12j2 C A 7: 139,915,980 (GRCm39) D68E probably damaging Het
Or7e178 T C 9: 20,225,265 (GRCm39) Q309R probably benign Het
Or8j3c G A 2: 86,253,721 (GRCm39) Q100* probably null Het
Plxnb2 T C 15: 89,048,223 (GRCm39) T696A probably benign Het
Prkab2 T A 3: 97,569,609 (GRCm39) F58L probably benign Het
Prpf4 G T 4: 62,334,206 (GRCm39) L220F probably benign Het
Rad18 A T 6: 112,658,307 (GRCm39) D199E probably benign Het
Raet1e T C 10: 22,050,304 (GRCm39) L29P probably damaging Het
Ralgapb A C 2: 158,336,630 (GRCm39) T1089P possibly damaging Het
Rest A G 5: 77,430,173 (GRCm39) E864G probably benign Het
Rgsl1 T A 1: 153,669,520 (GRCm39) I289F probably damaging Het
Rint1 T C 5: 24,015,951 (GRCm39) Y406H probably damaging Het
Rmc1 T C 18: 12,313,749 (GRCm39) I26T possibly damaging Het
Rpl31 C T 1: 39,409,108 (GRCm39) R41C probably benign Het
Scn8a T C 15: 100,872,415 (GRCm39) S485P probably damaging Het
Slamf1 T A 1: 171,615,538 (GRCm39) V249E possibly damaging Het
Slc39a12 C T 2: 14,412,414 (GRCm39) T362I possibly damaging Het
Sos1 C T 17: 80,761,319 (GRCm39) V126I possibly damaging Het
Srcap T C 7: 127,124,475 (GRCm39) F215S probably damaging Het
Supt4a T A 11: 87,634,113 (GRCm39) S110T probably benign Het
Tbc1d30 T A 10: 121,138,015 (GRCm39) T232S probably damaging Het
Tenm3 A G 8: 48,732,041 (GRCm39) C1288R probably damaging Het
Tespa1 T A 10: 130,191,356 (GRCm39) L100* probably null Het
Tgm1 C A 14: 55,949,893 (GRCm39) R105L probably damaging Het
Tgoln1 G A 6: 72,593,018 (GRCm39) T154I possibly damaging Het
Trp53i13 G A 11: 77,399,552 (GRCm39) T259I probably damaging Het
Tubgcp4 T A 2: 121,015,251 (GRCm39) F320I possibly damaging Het
Tut7 A T 13: 59,936,443 (GRCm39) C817* probably null Het
Vmn1r21 A C 6: 57,821,079 (GRCm39) Y122D probably benign Het
Vmn1r75 T A 7: 11,614,407 (GRCm39) D46E probably damaging Het
Vmn2r120 A T 17: 57,852,290 (GRCm39) L9M possibly damaging Het
Vmn2r59 A G 7: 41,696,247 (GRCm39) I165T possibly damaging Het
Vmn2r76 A T 7: 85,875,286 (GRCm39) Y564N probably damaging Het
Wee1 G T 7: 109,725,257 (GRCm39) E300* probably null Het
Xdh T C 17: 74,200,617 (GRCm39) D1168G probably damaging Het
Zfp54 A G 17: 21,653,706 (GRCm39) T67A probably damaging Het
Zfp941 G T 7: 140,392,679 (GRCm39) H227N probably benign Het
Zpr1 T A 9: 46,192,373 (GRCm39) V399D possibly damaging Het
Zzz3 A G 3: 152,161,461 (GRCm39) E285G probably 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
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
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'- GAGCAGACATTTCCTTTGAGC -3'
(R):5'- GGACTTGATGTTATGAACCTAATGG -3'

Sequencing Primer
(F):5'- GCGTGAATGTCTGTATACCACATGC -3'
(R):5'- TGATGTTATGAACCTAATGGACAAAG -3'
Posted On 2016-10-24