Incidental Mutation 'P0042:Klc2'
ID 7644
Institutional Source Beutler Lab
Gene Symbol Klc2
Ensembl Gene ENSMUSG00000024862
Gene Name kinesin light chain 2
Synonyms 8030455F02Rik
MMRRC Submission 038290-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # P0042 (G1)
Quality Score
Status Validated
Chromosome 19
Chromosomal Location 5157774-5168326 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 5163805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025798] [ENSMUST00000113727] [ENSMUST00000113728] [ENSMUST00000116563] [ENSMUST00000156717]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025798
SMART Domains Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862

DomainStartEndE-ValueType
Pfam:Rab5-bind 69 239 4.1e-64 PFAM
Pfam:TPR_10 197 238 9.5e-9 PFAM
TPR 240 273 6.19e-1 SMART
TPR 282 315 1.16e-5 SMART
TPR 324 357 2.16e0 SMART
TPR 366 399 1.6e-3 SMART
Pfam:TPR_10 448 483 1.5e-4 PFAM
low complexity region 496 507 N/A INTRINSIC
low complexity region 528 542 N/A INTRINSIC
low complexity region 592 615 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113727
SMART Domains Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862

DomainStartEndE-ValueType
Pfam:Rab5-bind 69 239 4.1e-64 PFAM
Pfam:TPR_10 197 238 9.5e-9 PFAM
TPR 240 273 6.19e-1 SMART
TPR 282 315 1.16e-5 SMART
TPR 324 357 2.16e0 SMART
TPR 366 399 1.6e-3 SMART
Pfam:TPR_10 448 483 1.5e-4 PFAM
low complexity region 496 507 N/A INTRINSIC
low complexity region 528 542 N/A INTRINSIC
low complexity region 592 615 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113728
SMART Domains Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862

DomainStartEndE-ValueType
Pfam:Rab5-bind 69 239 4.1e-64 PFAM
Pfam:TPR_10 197 238 9.5e-9 PFAM
TPR 240 273 6.19e-1 SMART
TPR 282 315 1.16e-5 SMART
TPR 324 357 2.16e0 SMART
TPR 366 399 1.6e-3 SMART
Pfam:TPR_10 448 483 1.5e-4 PFAM
low complexity region 496 507 N/A INTRINSIC
low complexity region 528 542 N/A INTRINSIC
low complexity region 592 615 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116563
SMART Domains Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862

DomainStartEndE-ValueType
coiled coil region 80 140 N/A INTRINSIC
Pfam:TPR_10 197 238 3.1e-9 PFAM
TPR 240 273 6.19e-1 SMART
TPR 282 315 1.16e-5 SMART
TPR 324 357 2.16e0 SMART
TPR 366 399 1.6e-3 SMART
low complexity region 416 428 N/A INTRINSIC
Pfam:TPR_10 450 486 1.1e-4 PFAM
low complexity region 498 509 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
low complexity region 594 617 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149806
Predicted Effect probably benign
Transcript: ENSMUST00000156717
SMART Domains Protein: ENSMUSP00000122458
Gene: ENSMUSG00000024862

DomainStartEndE-ValueType
Pfam:Rab5-bind 69 167 6.9e-30 PFAM
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 74.4%
  • 10x: 52.2%
  • 20x: 29.5%
Validation Efficiency 88% (87/99)
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 light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 A G 1: 90,142,600 (GRCm39) E353G probably damaging Het
Cercam T A 2: 29,771,095 (GRCm39) D497E probably damaging Het
Eif5a A T 11: 69,808,728 (GRCm39) probably benign Het
Htr4 T A 18: 62,546,748 (GRCm39) D100E probably damaging Het
Ift172 T C 5: 31,418,799 (GRCm39) K1172E probably benign Het
Inpp5b G A 4: 124,691,703 (GRCm39) probably null Het
Myh13 T A 11: 67,225,817 (GRCm39) L332M probably benign Het
Naca T C 10: 127,877,422 (GRCm39) probably benign Het
Oat A G 7: 132,164,374 (GRCm39) V238A possibly damaging Het
Rabep1 A G 11: 70,775,801 (GRCm39) probably benign Het
Snx13 A G 12: 35,157,541 (GRCm39) D529G probably damaging Het
Urod T A 4: 116,850,143 (GRCm39) L23F probably damaging Het
Zcchc2 C T 1: 105,958,727 (GRCm39) T1066I possibly damaging Het
Other mutations in Klc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Klc2 APN 19 5,161,690 (GRCm39) missense probably benign 0.17
IGL00822:Klc2 APN 19 5,161,541 (GRCm39) missense probably damaging 1.00
IGL01732:Klc2 APN 19 5,159,825 (GRCm39) missense probably damaging 1.00
IGL02374:Klc2 APN 19 5,160,438 (GRCm39) missense possibly damaging 0.76
IGL02677:Klc2 APN 19 5,161,696 (GRCm39) missense probably damaging 1.00
R0126:Klc2 UTSW 19 5,162,774 (GRCm39) missense possibly damaging 0.93
R1687:Klc2 UTSW 19 5,161,682 (GRCm39) missense probably damaging 1.00
R1887:Klc2 UTSW 19 5,158,640 (GRCm39) missense probably benign 0.00
R5620:Klc2 UTSW 19 5,162,884 (GRCm39) missense probably damaging 1.00
R6977:Klc2 UTSW 19 5,159,393 (GRCm39) missense probably damaging 1.00
R7622:Klc2 UTSW 19 5,161,660 (GRCm39) missense probably damaging 0.96
R7631:Klc2 UTSW 19 5,158,647 (GRCm39) missense probably benign 0.21
R8017:Klc2 UTSW 19 5,161,867 (GRCm39) missense probably benign
R8339:Klc2 UTSW 19 5,159,562 (GRCm39) missense probably benign 0.44
R8737:Klc2 UTSW 19 5,168,477 (GRCm39) unclassified probably benign
R8830:Klc2 UTSW 19 5,160,394 (GRCm39) critical splice donor site probably null
R8962:Klc2 UTSW 19 5,161,864 (GRCm39) missense probably benign 0.05
R9342:Klc2 UTSW 19 5,158,659 (GRCm39) missense probably benign 0.04
R9435:Klc2 UTSW 19 5,159,662 (GRCm39) missense possibly damaging 0.80
R9532:Klc2 UTSW 19 5,161,565 (GRCm39) missense possibly damaging 0.50
Posted On 2012-10-29