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

068584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5157774-5168326 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 5168477 bp (GRCm39)

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
Aff3	T	A	1: 38,308,810 (GRCm39)	D375V	probably damaging	Het
Agfg1	C	G	1: 82,871,243 (GRCm39)	P492A	probably benign	Het
Asb13	T	C	13: 3,692,089 (GRCm39)	V23A	probably damaging	Het
Atxn1l	A	T	8: 110,460,230 (GRCm39)	C11S	probably damaging	Het
Bbs9	T	G	9: 22,590,244 (GRCm39)	S661A	probably benign	Het
Btrc	T	C	19: 45,496,198 (GRCm39)	V211A	probably damaging	Het
Camk1g	T	C	1: 193,030,794 (GRCm39)		probably null	Het
Capn11	A	T	17: 45,943,801 (GRCm39)	L578I	probably benign	Het
Cd82	A	T	2: 93,252,239 (GRCm39)	I124N	probably damaging	Het
Cdkl4	G	T	17: 80,858,258 (GRCm39)	H120Q	probably benign	Het
Cftr	T	C	6: 18,319,728 (GRCm39)	V1393A	probably damaging	Het
Col14a1	A	T	15: 55,318,706 (GRCm39)	R1402*	probably null	Het
Col6a3	T	G	1: 90,727,747 (GRCm39)	Y1960S	probably benign	Het
Col9a1	A	T	1: 24,224,127 (GRCm39)	Y103F	unknown	Het
Cux1	A	G	5: 136,311,796 (GRCm39)	V1180A	probably damaging	Het
Cyp17a1	A	T	19: 46,658,166 (GRCm39)	C249S	probably benign	Het
Derl1	A	T	15: 57,755,568 (GRCm39)	W42R	probably benign	Het
Dhx36	C	A	3: 62,386,747 (GRCm39)	M668I	probably benign	Het
Dnah6	T	C	6: 73,044,428 (GRCm39)	K3228E	possibly damaging	Het
Dst	C	T	1: 34,267,750 (GRCm39)	A3050V	probably benign	Het
Efr3b	A	G	12: 4,049,594 (GRCm39)	Y70H	probably damaging	Het
Epb42	T	A	2: 120,856,324 (GRCm39)	T407S	possibly damaging	Het
Fads2b	T	A	2: 85,324,387 (GRCm39)		probably benign	Het
Fap	T	A	2: 62,342,777 (GRCm39)	I608L	probably benign	Het
Fblim1	A	G	4: 141,310,387 (GRCm39)	Y292H	probably benign	Het
Fmod	A	G	1: 133,968,043 (GRCm39)	I28V	probably benign	Het
Gad2	T	A	2: 22,524,985 (GRCm39)	Y256*	probably null	Het
Gapdh	G	A	6: 125,139,017 (GRCm39)	A353V	probably benign	Het
Gm5460	T	G	14: 33,739,149 (GRCm39)	W44G	unknown	Het
Ino80e	A	T	7: 126,460,974 (GRCm39)	V91D	probably benign	Het
Iqgap2	G	A	13: 95,802,258 (GRCm39)	P896S	probably damaging	Het
Kif26b	T	A	1: 178,692,430 (GRCm39)	I457N	probably damaging	Het
Ldlrap1	C	A	4: 134,495,147 (GRCm39)	W22L	probably benign	Het
Matn3	A	G	12: 9,017,665 (GRCm39)	D439G	possibly damaging	Het
Met	T	C	6: 17,540,510 (GRCm39)	L812P	probably benign	Het
Mki67	A	T	7: 135,315,504 (GRCm39)	I90N	probably damaging	Het
Mptx2	A	C	1: 173,105,256 (GRCm39)	S12A	probably benign	Het
Mrgpra9	G	T	7: 46,885,624 (GRCm39)	N14K	probably benign	Het
Nbeal2	G	A	9: 110,456,949 (GRCm39)	R2350C	probably damaging	Het
Nsmaf	A	G	4: 6,396,748 (GRCm39)	I913T	probably benign	Het
Nuggc	G	T	14: 65,882,535 (GRCm39)	C760F	probably benign	Het
Or10a3m	T	A	7: 108,312,964 (GRCm39)	F135I	probably damaging	Het
Or1j13	T	A	2: 36,369,629 (GRCm39)	N171I	probably benign	Het
Or2y1f	T	A	11: 49,184,965 (GRCm39)	F272L	probably damaging	Het
Or4c110	C	A	2: 88,832,351 (GRCm39)	E94*	probably null	Het
Or51b6	A	G	7: 103,555,913 (GRCm39)	N86S		Het
Pdgfrb	C	T	18: 61,214,073 (GRCm39)	P953S	probably damaging	Het
Pemt	T	G	11: 59,874,285 (GRCm39)	I102L	probably benign	Het
Pla2g4c	G	T	7: 13,069,154 (GRCm39)	M109I	probably benign	Het
Pla2g4d	T	A	2: 120,100,466 (GRCm39)	Y622F	probably damaging	Het
Pmpca	T	A	2: 26,283,531 (GRCm39)	V400D	probably damaging	Het
Pnpt1	G	C	11: 29,104,815 (GRCm39)		probably null	Het
Pramel29	A	C	4: 143,935,192 (GRCm39)	L183R	probably damaging	Het
Prrc1	T	A	18: 57,496,408 (GRCm39)	S120T	possibly damaging	Het
Prrx2	T	G	2: 30,768,578 (GRCm39)	V135G	probably damaging	Het
Qrfprl	A	G	6: 65,433,260 (GRCm39)	K360R	probably benign	Het
Recql4	T	C	15: 76,593,054 (GRCm39)	N352S	probably benign	Het
Sftpa1	T	C	14: 40,856,044 (GRCm39)	S130P	probably damaging	Het
Slc35e2	T	C	4: 155,695,042 (GRCm39)	L136P	probably benign	Het
Tarbp2	T	A	15: 102,430,202 (GRCm39)	S155T	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tmem116	A	T	5: 121,620,433 (GRCm39)	Y146F		Het
Ttc17	C	T	2: 94,206,374 (GRCm39)		probably null	Het
Vmn2r114	G	A	17: 23,529,142 (GRCm39)	T320I	probably benign	Het
Vmn2r69	A	T	7: 85,055,783 (GRCm39)	V785D	probably damaging	Het
Vmn2r89	T	A	14: 51,693,722 (GRCm39)	N357K	probably damaging	Het
Zfp811	A	T	17: 33,017,197 (GRCm39)	L281Q	possibly 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
R8339:Klc2	UTSW	19	5,159,562 (GRCm39)	missense	probably benign	0.44
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'- TCCCTAGAAAAGGCCGGATTC -3'
(R):5'- GTCAATGCACTAAGACATCGAC -3'

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

Posted On

2021-03-08