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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |