Incidental Mutation 'IGL02677:Klc2'
ID303163
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? Possibly essential (E-score: 0.507) question?
Stock #IGL02677
Quality Score
Status
Chromosome19
Chromosomal Location5107746-5118560 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5111668 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 298 (Y298C)
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: Y298C

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862
AA Change: Y298C

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: Y298C

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862
AA Change: Y298C

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: Y298C

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862
AA Change: Y298C

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: Y298C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862
AA Change: Y298C

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,501,095 Y84* probably null Het
4931406P16Rik T A 7: 34,242,409 probably benign Het
Adam5 A G 8: 24,812,379 probably benign Het
Aipl1 T C 11: 72,029,396 E282G possibly damaging Het
Akp3 A G 1: 87,125,272 D61G probably damaging Het
Anpep A G 7: 79,838,730 S451P probably damaging Het
Csnka2ip A G 16: 64,478,312 L119P probably damaging Het
Ddx19a T C 8: 110,989,609 E53G probably benign Het
Ddx50 C T 10: 62,616,293 R116Q unknown Het
Ddx60 A T 8: 61,988,132 E1078D probably damaging Het
Dpy19l1 T C 9: 24,485,072 D116G probably damaging Het
Dsg4 A G 18: 20,464,876 T668A possibly damaging Het
Dspp A G 5: 104,175,977 T329A possibly damaging Het
Eftud2 T C 11: 102,846,614 T554A probably damaging Het
Enpp1 T C 10: 24,679,185 probably benign Het
Ext2 A T 2: 93,707,245 F599I probably damaging Het
Fahd1 A T 17: 24,849,530 I191N probably damaging Het
Fcrls A T 3: 87,259,387 S100T probably benign Het
Fras1 T A 5: 96,545,024 C181S probably damaging Het
Gcnt4 A G 13: 96,947,233 I346V probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Kcnma1 A G 14: 23,463,156 Y392H probably damaging Het
Lamb3 G A 1: 193,339,522 V1011I probably benign Het
Ldb1 T C 19: 46,036,155 probably benign Het
Mcph1 A G 8: 18,625,593 K11E probably damaging Het
Myc A G 15: 61,989,664 H374R probably damaging Het
Myom1 A G 17: 71,084,349 Y853C probably damaging Het
Olfr1282 A T 2: 111,335,802 I92N probably damaging Het
Pakap C T 4: 57,856,263 P572S probably benign Het
Pclo A G 5: 14,676,929 probably benign Het
Pde3a G A 6: 141,405,172 probably benign Het
Per1 T C 11: 69,106,660 V887A probably benign Het
Prokr1 G A 6: 87,588,368 probably benign Het
Rb1cc1 A G 1: 6,249,419 I1021V probably benign Het
Ryr1 T C 7: 29,110,608 E344G probably benign Het
Sec24c A T 14: 20,689,642 D529V probably damaging Het
Slc1a6 T C 10: 78,789,064 V101A probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tap2 G A 17: 34,212,047 V374M probably benign Het
Tex15 T A 8: 33,571,080 D179E probably benign Het
Tmem8b T C 4: 43,686,092 L241P probably damaging Het
Tmprss11g T C 5: 86,492,290 D160G probably benign Het
Trim30a C T 7: 104,435,913 C30Y probably damaging Het
Ttn A G 2: 76,771,496 probably benign Het
Ush2a A G 1: 188,734,685 R2849G probably damaging Het
Usp5 A G 6: 124,819,426 V570A probably damaging Het
Vipr1 T C 9: 121,660,283 probably benign Het
Zc2hc1c A C 12: 85,290,076 D169A probably benign Het
Other mutations in Klc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Klc2 APN 19 5111662 missense probably benign 0.17
IGL00822:Klc2 APN 19 5111513 missense probably damaging 1.00
IGL01732:Klc2 APN 19 5109797 missense probably damaging 1.00
IGL02374:Klc2 APN 19 5110410 missense possibly damaging 0.76
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
Posted On2015-04-16