Mutagenetix > Incidental Mutation

Incidental Mutation 'R9435:Klc2'

713256

Institutional Source

Beutler Lab

Gene Symbol

Klc2

Ensembl Gene

ENSMUSG00000024862

Gene Name

kinesin light chain 2

Synonyms

8030455F02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9435 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5157774-5168326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5159662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 484 (D484E)

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

possibly damaging
Transcript: ENSMUST00000025798
AA Change: D482E

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862
AA Change: D482E

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

possibly damaging
Transcript: ENSMUST00000113727
AA Change: D482E

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862
AA Change: D482E

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

possibly damaging
Transcript: ENSMUST00000113728
AA Change: D482E

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862
AA Change: D482E

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

possibly damaging
Transcript: ENSMUST00000116563
AA Change: D484E

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862
AA Change: D484E

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,562 (GRCm39)	D1134E	probably benign	Het
Abca5	C	T	11: 110,182,911 (GRCm39)		probably null	Het
Acp2	A	G	2: 91,036,409 (GRCm39)	T169A	probably damaging	Het
Agtpbp1	A	T	13: 59,622,429 (GRCm39)	N932K	probably benign	Het
Aldh5a1	G	A	13: 25,121,293 (GRCm39)	R87C	probably damaging	Het
Bpifa1	G	T	2: 153,985,843 (GRCm39)	A53S	unknown	Het
Cacna2d2	T	C	9: 107,396,384 (GRCm39)	I667T	probably benign	Het
Catsperg1	T	A	7: 28,889,751 (GRCm39)	T784S	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Cd46	C	G	1: 194,767,720 (GRCm39)	D114H	probably damaging	Het
Cd82	A	T	2: 93,267,740 (GRCm39)	L19Q	probably damaging	Het
Celsr1	T	C	15: 85,806,535 (GRCm39)		probably benign	Het
Cnksr1	A	G	4: 133,961,885 (GRCm39)	I180T	possibly damaging	Het
Drg2	T	C	11: 60,358,966 (GRCm39)	V362A	probably benign	Het
Eef2	T	A	10: 81,014,994 (GRCm39)	M231K	probably benign	Het
Egr2	T	C	10: 67,375,628 (GRCm39)	Y75H	probably damaging	Het
Exoc6	A	C	19: 37,585,545 (GRCm39)	Q473H	probably benign	Het
Focad	T	A	4: 88,267,076 (GRCm39)	M1029K	unknown	Het
Fpr-rs4	T	A	17: 18,242,391 (GRCm39)	S133T	probably benign	Het
Gbf1	T	C	19: 46,268,432 (GRCm39)	V1322A	probably benign	Het
Gm572	T	C	4: 148,752,966 (GRCm39)	S282P	possibly damaging	Het
Gm7579	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	7: 141,765,782 (GRCm39)		probably benign	Het
Golph3l	T	C	3: 95,496,369 (GRCm39)	V31A	probably benign	Het
Iars2	A	T	1: 185,034,913 (GRCm39)	V610D	probably damaging	Het
Igsf6	T	A	7: 120,666,472 (GRCm39)	I203F	probably damaging	Het
Ildr2	A	G	1: 166,136,691 (GRCm39)	Y510C	probably damaging	Het
Iqcf4	C	A	9: 106,445,652 (GRCm39)	R165L	possibly damaging	Het
Itgb1bp1	T	G	12: 21,320,943 (GRCm39)	I183L	possibly damaging	Het
Itgb4	A	C	11: 115,895,855 (GRCm39)	S1414R	probably benign	Het
Kbtbd7	G	T	14: 79,664,944 (GRCm39)	A259S	probably benign	Het
Kif14	T	A	1: 136,401,174 (GRCm39)	D508E	possibly damaging	Het
Lamc2	T	C	1: 153,013,072 (GRCm39)	S630G	probably benign	Het
Myl6b	G	A	10: 128,331,066 (GRCm39)	T125M	possibly damaging	Het
Nbea	T	A	3: 55,943,309 (GRCm39)	K655N	possibly damaging	Het
Nkx3-2	T	C	5: 41,919,493 (GRCm39)	D165G	probably benign	Het
Npy	A	T	6: 49,804,481 (GRCm39)	R67S	probably damaging	Het
Nrg3	A	T	14: 39,194,556 (GRCm39)	C68S	possibly damaging	Het
Nup160	C	T	2: 90,560,138 (GRCm39)	P1288S	probably damaging	Het
Or52e15	T	C	7: 104,645,946 (GRCm39)	H55R	probably benign	Het
Or8g33	A	G	9: 39,337,506 (GRCm39)	L287P	probably benign	Het
Pam	T	A	1: 97,822,144 (GRCm39)	I287L	probably benign	Het
Phf10	T	C	17: 15,165,387 (GRCm39)	R490G	probably benign	Het
Prim2	T	C	1: 33,523,876 (GRCm39)	Y345C	probably damaging	Het
Ptchd3	C	T	11: 121,721,646 (GRCm39)	A173V	probably benign	Het
Rab8b	G	A	9: 66,755,912 (GRCm39)	R167W	probably damaging	Het
S100a3	A	G	3: 90,509,502 (GRCm39)	E49G	probably benign	Het
Slc41a1	T	A	1: 131,766,896 (GRCm39)	V138E	probably damaging	Het
Slit1	C	A	19: 41,591,764 (GRCm39)		probably null	Het
Sntg1	T	A	1: 8,433,814 (GRCm39)	H479L	probably damaging	Het
Stam	T	A	2: 14,120,801 (GRCm39)	C72S	probably damaging	Het
Sval2	G	T	6: 41,840,795 (GRCm39)	A93S	probably benign	Het
Tas2r103	T	A	6: 133,013,686 (GRCm39)	K127*	probably null	Het
Trank1	C	T	9: 111,193,890 (GRCm39)	T638M	probably benign	Het
Utrn	T	A	10: 12,519,173 (GRCm39)	I2260F	probably damaging	Het
Zfp268	G	C	4: 145,349,045 (GRCm39)	E161Q		Het
Zfp280d	T	C	9: 72,226,599 (GRCm39)		probably null	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
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
R9532:Klc2	UTSW	19	5,161,565 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- GTAGTCTTACAGCCCTCCTCAG -3'
(R):5'- TGATATCTGTCCACAGTCCCAC -3'

Sequencing Primer
(F):5'- TCCTCAGCCTCCACACTCAC -3'
(R):5'- AAGCTTGGGCGCCCTGTAC -3'

Posted On

2022-05-16