Incidental Mutation 'IGL00822:Klc2'
ID11646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klc2
Ensembl Gene ENSMUSG00000024862
Gene Namekinesin light chain 2
Synonyms8030455F02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00822
Quality Score
Status
Chromosome19
Chromosomal Location5107746-5118560 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5111513 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 323 (V323E)
Ref Sequence ENSEMBL: ENSMUSP00000112262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025798] [ENSMUST00000025804] [ENSMUST00000113727] [ENSMUST00000113728] [ENSMUST00000116563] [ENSMUST00000156717]
PDB Structure
Crystal structure of the TPR domain of kinesin light chain 2 in complex with a tryptophan-acidic cargo peptide [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000025798
AA Change: V323E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862
AA Change: V323E

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: ENSMUST00000025804
SMART Domains Protein: ENSMUSP00000025804
Gene: ENSMUSG00000024870

DomainStartEndE-ValueType
RAB 9 172 4.57e-105 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113727
AA Change: V323E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862
AA Change: V323E

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 damaging
Transcript: ENSMUST00000113728
AA Change: V323E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862
AA Change: V323E

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 damaging
Transcript: ENSMUST00000116563
AA Change: V323E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862
AA Change: V323E

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
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 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T C 8: 60,535,758 S332P probably benign Het
Abcb4 T C 5: 8,950,046 F1005L probably benign Het
Actr2 G A 11: 20,094,367 R80W probably damaging Het
Adck1 T C 12: 88,455,516 I299T probably damaging Het
Armc4 A T 18: 7,181,817 L836M probably damaging Het
Camk2g C T 14: 20,737,330 G500S probably damaging Het
Car15 A T 16: 17,836,634 M146K probably damaging Het
Cyp4f39 A G 17: 32,470,832 N84S probably benign Het
Dock8 G T 19: 25,188,409 E1886* probably null Het
Kansl2 T C 15: 98,528,853 probably benign Het
Lrrc7 A G 3: 158,185,474 V352A probably damaging Het
Lrrc8c G T 5: 105,608,308 A650S probably benign Het
Ltbp1 A G 17: 75,151,321 Y299C probably damaging Het
Myh13 A G 11: 67,361,328 T1421A probably damaging Het
Myl3 C A 9: 110,766,489 T56K possibly damaging Het
Nod1 T C 6: 54,944,946 Y129C probably damaging Het
Otog G A 7: 46,295,880 S2187N probably benign Het
Pank4 G A 4: 154,980,602 R786H possibly damaging Het
Sag A G 1: 87,845,026 probably null Het
Scn2b G A 9: 45,125,544 V117M probably damaging Het
Sec16b G T 1: 157,564,555 A886S probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Spns3 A T 11: 72,499,353 probably null Het
Styk1 T C 6: 131,301,662 K350E possibly damaging Het
Tns3 G A 11: 8,443,976 T1291I probably damaging Het
Xntrpc A G 7: 102,084,368 I175V probably damaging Het
Zfp106 G A 2: 120,514,160 R1745C probably damaging Het
Other mutations in Klc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Klc2 APN 19 5111662 missense probably benign 0.17
IGL01732:Klc2 APN 19 5109797 missense probably damaging 1.00
IGL02374:Klc2 APN 19 5110410 missense possibly damaging 0.76
IGL02677:Klc2 APN 19 5111668 missense probably damaging 1.00
P0042:Klc2 UTSW 19 5113777 unclassified probably benign
R0126:Klc2 UTSW 19 5112746 missense possibly damaging 0.93
R1687:Klc2 UTSW 19 5111654 missense probably damaging 1.00
R1887:Klc2 UTSW 19 5108612 missense probably benign 0.00
R5620:Klc2 UTSW 19 5112856 missense probably damaging 1.00
R6977:Klc2 UTSW 19 5109365 missense probably damaging 1.00
R7622:Klc2 UTSW 19 5111632 missense probably damaging 0.96
R7631:Klc2 UTSW 19 5108619 missense probably benign 0.21
Posted On2012-12-06