Incidental Mutation 'R8339:Klc2'
ID 644819
Institutional Source Beutler Lab
Gene Symbol Klc2
Ensembl Gene ENSMUSG00000024862
Gene Name kinesin light chain 2
Synonyms 8030455F02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8339 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 5157774-5168326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5159562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 518 (S518P)
Ref Sequence ENSEMBL: ENSMUSP00000112262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025798] [ENSMUST00000025804] [ENSMUST00000113727] [ENSMUST00000113728] [ENSMUST00000116563] [ENSMUST00000156717]
AlphaFold no structure available at present
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 benign
Transcript: ENSMUST00000025798
AA Change: S516P

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862
AA Change: S516P

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 benign
Transcript: ENSMUST00000113727
AA Change: S516P

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862
AA Change: S516P

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
AA Change: S516P

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862
AA Change: S516P

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
AA Change: S518P

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862
AA Change: S518P

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 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,324,831 (GRCm39) F1549S probably damaging Het
Ablim1 T C 19: 57,032,281 (GRCm39) E710G probably benign Het
Adam34 A T 8: 44,103,640 (GRCm39) H668Q probably benign Het
Asphd2 A T 5: 112,539,501 (GRCm39) Y111N possibly damaging Het
Camsap1 A G 2: 25,872,817 (GRCm39) I45T possibly damaging Het
Ccdc88c A T 12: 100,907,399 (GRCm39) L984* probably null Het
Ccr1 T G 9: 123,763,763 (GRCm39) N256H probably damaging Het
Cep295 A T 9: 15,236,846 (GRCm39) D254E Het
Cfhr4 T A 1: 139,660,157 (GRCm39) E656V probably damaging Het
Cmya5 G T 13: 93,228,142 (GRCm39) Y2315* probably null Het
Cspp1 G T 1: 10,183,892 (GRCm39) R839I probably damaging Het
Dbn1 A T 13: 55,629,982 (GRCm39) D153E probably benign Het
Dnah7a G T 1: 53,724,178 (GRCm39) L96I probably benign Het
G6pc1 A G 11: 101,267,314 (GRCm39) T255A possibly damaging Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Il12a T A 3: 68,599,438 (GRCm39) C33* probably null Het
Iqce T C 5: 140,660,093 (GRCm39) E555G probably damaging Het
Itpr2 T C 6: 146,214,396 (GRCm39) M1484V probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or2b7 A T 13: 21,739,996 (GRCm39) N65K probably damaging Het
Or8b47 T C 9: 38,435,717 (GRCm39) S230P probably damaging Het
Or9g4b C A 2: 85,615,876 (GRCm39) T7N probably damaging Het
Otogl T A 10: 107,625,396 (GRCm39) I1516F probably damaging Het
Otogl G T 10: 107,625,397 (GRCm39) S1515R probably benign Het
Pacs1 A T 19: 5,192,651 (GRCm39) V627E probably damaging Het
Ptprb A C 10: 116,119,356 (GRCm39) R163S probably benign Het
Ralgps2 G T 1: 156,649,008 (GRCm39) P432Q probably null Het
Rgl3 T C 9: 21,898,825 (GRCm39) T205A probably benign Het
Rock2 G T 12: 17,024,861 (GRCm39) W1213L probably damaging Het
Satb1 T A 17: 52,089,977 (GRCm39) H290L probably damaging Het
Scn1a T C 2: 66,116,373 (GRCm39) Y422C probably damaging Het
Sgcg T A 14: 61,469,966 (GRCm39) M132L probably benign Het
Shank1 A G 7: 43,975,589 (GRCm39) S478G unknown Het
Slc18a1 A T 8: 69,518,273 (GRCm39) M247K possibly damaging Het
Slc37a4 A G 9: 44,313,724 (GRCm39) I417V probably benign Het
Slc9b2 A G 3: 135,030,363 (GRCm39) M227V possibly damaging Het
Tcf20 C A 15: 82,736,877 (GRCm39) V1525L probably benign Het
Tril G A 6: 53,794,918 (GRCm39) T768I possibly damaging Het
Xxylt1 T C 16: 30,899,858 (GRCm39) H99R possibly damaging Het
Zfp653 T C 9: 21,969,213 (GRCm39) E351G probably 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
P0042:Klc2 UTSW 19 5,163,805 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CAGCAGCTCACCTAGAGTTAG -3'
(R):5'- AAGTAGAGACCTATGAGGCTCC -3'

Sequencing Primer
(F):5'- ATCTCACTGCTGCGTCTCAGAG -3'
(R):5'- AGACCTATGAGGCTCCATGTG -3'
Posted On 2020-09-02