Mutagenetix > Incidental Mutation

Incidental Mutation 'R8737:Klc2'

663121

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 #

R8737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5107746-5118560 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 5118449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025798] [ENSMUST00000113727] [ENSMUST00000113728] [ENSMUST00000116563] [ENSMUST00000156717]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025798

SMART Domains

Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862

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: ENSMUST00000113727

SMART Domains

Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862

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

SMART Domains

Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862

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

SMART Domains

Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862

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: 99.6%
20x: 98.7%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	T	A	2: 85,494,043		probably benign	Het
Aff3	T	A	1: 38,269,729	D375V	probably damaging	Het
Agfg1	C	G	1: 82,893,522	P492A	probably benign	Het
Asb13	T	C	13: 3,642,089	V23A	probably damaging	Het
Atxn1l	A	T	8: 109,733,598	C11S	probably damaging	Het
Bbs9	T	G	9: 22,678,948	S661A	probably benign	Het
Btrc	T	C	19: 45,507,759	V211A	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,276	K360R	probably benign	Het
C87977	A	C	4: 144,208,622	L183R	probably damaging	Het
Camk1g	T	C	1: 193,348,486		probably null	Het
Capn11	A	T	17: 45,632,875	L578I	probably benign	Het
Cd82	A	T	2: 93,421,894	I124N	probably damaging	Het
Cdkl4	G	T	17: 80,550,829	H120Q	probably benign	Het
Cftr	T	C	6: 18,319,729	V1393A	probably damaging	Het
Col14a1	A	T	15: 55,455,310	R1402*	probably null	Het
Col6a3	T	G	1: 90,800,025	Y1960S	probably benign	Het
Col9a1	A	T	1: 24,185,046	Y103F	unknown	Het
Cux1	A	G	5: 136,282,942	V1180A	probably damaging	Het
Cyp17a1	A	T	19: 46,669,727	C249S	probably benign	Het
Derl1	A	T	15: 57,892,172	W42R	probably benign	Het
Dhx36	C	A	3: 62,479,326	M668I	probably benign	Het
Dnah6	T	C	6: 73,067,445	K3228E	possibly damaging	Het
Dst	C	T	1: 34,228,669	A3050V	probably benign	Het
Efr3b	A	G	12: 3,999,594	Y70H	probably damaging	Het
Epb42	T	A	2: 121,025,843	T407S	possibly damaging	Het
Fap	T	A	2: 62,512,433	I608L	probably benign	Het
Fblim1	A	G	4: 141,583,076	Y292H	probably benign	Het
Fmod	A	G	1: 134,040,305	I28V	probably benign	Het
Gad2	T	A	2: 22,634,973	Y256*	probably null	Het
Gapdh	G	A	6: 125,162,054	A353V	probably benign	Het
Gm5460	T	G	14: 34,017,192	W44G	unknown	Het
Ino80e	A	T	7: 126,861,802	V91D	probably benign	Het
Iqgap2	G	A	13: 95,665,750	P896S	probably damaging	Het
Kif26b	T	A	1: 178,864,865	I457N	probably damaging	Het
Ldlrap1	C	A	4: 134,767,836	W22L	probably benign	Het
Matn3	A	G	12: 8,967,665	D439G	possibly damaging	Het
Met	T	C	6: 17,540,511	L812P	probably benign	Het
Mki67	A	T	7: 135,713,775	I90N	probably damaging	Het
Mptx2	A	C	1: 173,277,689	S12A	probably benign	Het
Mrgpra9	G	T	7: 47,235,876	N14K	probably benign	Het
Nbeal2	G	A	9: 110,627,881	R2350C	probably damaging	Het
Nsmaf	A	G	4: 6,396,748	I913T	probably benign	Het
Nuggc	G	T	14: 65,645,086	C760F	probably benign	Het
Olfr1215	C	A	2: 89,002,007	E94*	probably null	Het
Olfr1392	T	A	11: 49,294,138	F272L	probably damaging	Het
Olfr341	T	A	2: 36,479,617	N171I	probably benign	Het
Olfr512	T	A	7: 108,713,757	F135I	probably damaging	Het
Olfr65	A	G	7: 103,906,706	N86S		Het
Pdgfrb	C	T	18: 61,081,001	P953S	probably damaging	Het
Pemt	T	G	11: 59,983,459	I102L	probably benign	Het
Pla2g4c	G	T	7: 13,335,229	M109I	probably benign	Het
Pla2g4d	T	A	2: 120,269,985	Y622F	probably damaging	Het
Pmpca	T	A	2: 26,393,519	V400D	probably damaging	Het
Pnpt1	G	C	11: 29,154,815		probably null	Het
Prrc1	T	A	18: 57,363,336	S120T	possibly damaging	Het
Prrx2	T	G	2: 30,878,566	V135G	probably damaging	Het
Recql4	T	C	15: 76,708,854	N352S	probably benign	Het
Sftpa1	T	C	14: 41,134,087	S130P	probably damaging	Het
Slc35e2	T	C	4: 155,610,585	L136P	probably benign	Het
Tarbp2	T	A	15: 102,521,767	S155T	probably benign	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tmem116	A	T	5: 121,482,370	Y146F		Het
Ttc17	C	T	2: 94,376,029		probably null	Het
Vmn2r114	G	A	17: 23,310,168	T320I	probably benign	Het
Vmn2r69	A	T	7: 85,406,575	V785D	probably damaging	Het
Vmn2r89	T	A	14: 51,456,265	N357K	probably damaging	Het
Zfp811	A	T	17: 32,798,223	L281Q	possibly damaging	Het

Other mutations in Klc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02677:Klc2	APN	19	5111668	missense	probably damaging	1.00
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
R7622:Klc2	UTSW	19	5111632	missense	probably damaging	0.96
R7631:Klc2	UTSW	19	5108619	missense	probably benign	0.21
R8017:Klc2	UTSW	19	5111839	missense	probably benign
R8339:Klc2	UTSW	19	5109534	missense	probably benign	0.44
R8830:Klc2	UTSW	19	5110366	critical splice donor site	probably null
R8962:Klc2	UTSW	19	5111836	missense	probably benign	0.05
R9342:Klc2	UTSW	19	5108631	missense	probably benign	0.04
R9435:Klc2	UTSW	19	5109634	missense	possibly damaging	0.80
R9532:Klc2	UTSW	19	5111537	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TCCCTAGAAAAGGCCGGATTC -3'
(R):5'- GTCAATGCACTAAGACATCGAC -3'

Sequencing Primer
(F):5'- TAGAAAAGGCCGGATTCCCAGC -3'
(R):5'- TCGACAAAAACACTTGACAGTC -3'

Posted On

2021-03-08