Mutagenetix > Incidental Mutation

Incidental Mutation 'R7622:Klc2'

589227

Institutional Source

Beutler Lab

Gene Symbol

Klc2

Ensembl Gene

ENSMUSG00000024862

Gene Name

kinesin light chain 2

Synonyms

8030455F02Rik

MMRRC Submission

045717-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7622 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5157774-5168326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5161660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 310 (E310G)

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 damaging
Transcript: ENSMUST00000025798
AA Change: E310G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862
AA Change: E310G

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 damaging
Transcript: ENSMUST00000113727
AA Change: E310G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862
AA Change: E310G

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 damaging
Transcript: ENSMUST00000113728
AA Change: E310G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862
AA Change: E310G

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 damaging
Transcript: ENSMUST00000116563
AA Change: E310G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862
AA Change: E310G

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: 99.7%
20x: 99.1%

Validation Efficiency

98% (55/56)

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
Adgrd1	G	A	5: 129,216,688 (GRCm39)	D384N	probably benign	Het
Aqp8	T	C	7: 123,065,883 (GRCm39)	F226S	possibly damaging	Het
Arl6ip6	A	G	2: 53,107,339 (GRCm39)	Y207C	probably damaging	Het
Bltp1	C	A	3: 37,002,562 (GRCm39)	C1502*	probably null	Het
Cbfa2t2	A	G	2: 154,342,365 (GRCm39)	E27G	possibly damaging	Het
Cdc42bpb	T	G	12: 111,261,206 (GRCm39)	E201A	unknown	Het
Cfap54	A	C	10: 92,792,806 (GRCm39)	V1769G	unknown	Het
Dmxl2	C	T	9: 54,379,502 (GRCm39)	G7S	probably damaging	Het
Dnah6	G	T	6: 73,101,742 (GRCm39)	F1927L	possibly damaging	Het
Dnajc6	A	G	4: 101,497,688 (GRCm39)	E942G	probably damaging	Het
Fam170a	A	G	18: 50,415,969 (GRCm39)	R324G	probably benign	Het
Gapdhs	G	A	7: 30,438,756 (GRCm39)	T9I	unknown	Het
Gm10320	T	A	13: 98,626,232 (GRCm39)	R51*	probably null	Het
Gm19410	A	T	8: 36,277,501 (GRCm39)	T1776S	possibly damaging	Het
Gm4846	A	T	1: 166,323,441 (GRCm39)	M94K	possibly damaging	Het
Ighv2-5	G	A	12: 113,649,358 (GRCm39)	Q32*	probably null	Het
Krt75	A	G	15: 101,478,707 (GRCm39)	M309T	probably damaging	Het
Lrp11	G	A	10: 7,465,936 (GRCm39)	G41R	unknown	Het
Lrrc52	G	T	1: 167,293,664 (GRCm39)	P207Q	probably benign	Het
Lrrc52	G	T	1: 167,293,665 (GRCm39)	P207T	probably benign	Het
Lrrk2	A	T	15: 91,696,526 (GRCm39)	D2438V	probably damaging	Het
Mycbp	C	T	4: 123,799,094 (GRCm39)	T28M	probably damaging	Het
Myh14	A	G	7: 44,281,846 (GRCm39)	V804A	probably benign	Het
Myo16	A	G	8: 10,426,238 (GRCm39)	I332V	unknown	Het
Ncor1	G	T	11: 62,208,794 (GRCm39)	Q1359K	probably benign	Het
Oog3	T	C	4: 143,884,889 (GRCm39)	D349G	probably benign	Het
Or12e1	A	T	2: 87,022,594 (GRCm39)	I188L	probably benign	Het
Or1j21	A	G	2: 36,683,943 (GRCm39)	K232E	probably benign	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Or8k53	A	G	2: 86,178,006 (GRCm39)	Y35H	possibly damaging	Het
Pate4	A	G	9: 35,519,595 (GRCm39)	S32P	possibly damaging	Het
Pcdhb7	A	C	18: 37,475,514 (GRCm39)	S217R	probably benign	Het
Pde1c	G	A	6: 56,103,910 (GRCm39)	R580C	probably damaging	Het
Pi4ka	C	A	16: 17,111,841 (GRCm39)	A1545S		Het
Pign	G	T	1: 105,575,842 (GRCm39)	T266K	possibly damaging	Het
Pitpnm2	A	G	5: 124,260,090 (GRCm39)	I1134T	probably benign	Het
Ppfia2	G	A	10: 106,666,520 (GRCm39)	V409I	possibly damaging	Het
Prr7	A	G	13: 55,620,609 (GRCm39)	T206A	probably benign	Het
Rnf13	A	T	3: 57,727,955 (GRCm39)	R212*	probably null	Het
Rwdd2b	T	C	16: 87,231,500 (GRCm39)	N218S	probably benign	Het
Serpina3m	A	G	12: 104,355,834 (GRCm39)	D167G	possibly damaging	Het
Slit2	A	T	5: 48,142,547 (GRCm39)	N56Y	probably damaging	Het
Sprr3	G	T	3: 92,364,592 (GRCm39)	T84K	probably damaging	Het
Stab2	A	T	10: 86,709,766 (GRCm39)	H1626Q	possibly damaging	Het
Tex2	C	A	11: 106,437,721 (GRCm39)	D650Y	unknown	Het
Tmprss6	A	G	15: 78,330,926 (GRCm39)	S436P	probably benign	Het
Uba2	A	C	7: 33,864,860 (GRCm39)	F63L	probably damaging	Het
Ubxn2b	C	T	4: 6,214,692 (GRCm39)	S242L	probably damaging	Het
Vmn1r86	T	G	7: 12,836,685 (GRCm39)	I64L	probably benign	Het
Vmn2r67	A	T	7: 84,785,662 (GRCm39)	V781E	probably damaging	Het
Vmn2r80	T	A	10: 79,030,097 (GRCm39)	F641Y	probably damaging	Het
Wdfy4	A	T	14: 32,800,231 (GRCm39)	I1965K		Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Wdr90	G	T	17: 26,073,083 (GRCm39)	F837L	probably benign	Het
Xpo4	A	G	14: 57,834,468 (GRCm39)	V704A	possibly damaging	Het
Zc3h12d	A	G	10: 7,743,033 (GRCm39)	K268E	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
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
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'- GTGTGGCATAGATCTCCAGG -3'
(R):5'- GCCTAAGTGTTCCTCTCCAG -3'

Sequencing Primer
(F):5'- ATAGATCTCCAGGGCTCTCCG -3'
(R):5'- TCCAGTCCTCACAAGTTCCAG -3'

Posted On

2019-10-24