Mutagenetix > Incidental Mutation

Incidental Mutation 'R8962:Klc2'

682448

Institutional Source

Beutler Lab

Gene Symbol

Klc2

Ensembl Gene

ENSMUSG00000024862

Gene Name

kinesin light chain 2

Synonyms

8030455F02Rik

MMRRC Submission

068796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8962 (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 5161864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 277 (D277G)

Ref Sequence

ENSEMBL: ENSMUSP00000109357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025798] [ENSMUST00000025804] [ENSMUST00000113727] [ENSMUST00000113728] [ENSMUST00000116563] [ENSMUST00000156717]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025798
AA Change: D277G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862
AA Change: D277G

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: D277G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862
AA Change: D277G

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: D277G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862
AA Change: D277G

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: D277G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862
AA Change: D277G

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: 99.3%
20x: 97.4%

Validation Efficiency

99% (86/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,220,173 (GRCm39)	M120L	probably benign	Het
Abat	A	G	16: 8,396,166 (GRCm39)	T48A	probably damaging	Het
Abca8a	A	T	11: 109,969,634 (GRCm39)	I314N	probably damaging	Het
Abr	A	T	11: 76,352,155 (GRCm39)	V108D	probably damaging	Het
Adamts17	T	G	7: 66,725,057 (GRCm39)	L162V	probably damaging	Het
Adamts6	A	T	13: 104,433,899 (GRCm39)	K109N	probably damaging	Het
Ago3	A	G	4: 126,241,595 (GRCm39)	F68S	probably damaging	Het
Aifm3	T	C	16: 17,324,200 (GRCm39)		probably null	Het
Ankrd26	T	C	6: 118,512,104 (GRCm39)	E506G	probably benign	Het
Apaf1	A	G	10: 90,903,066 (GRCm39)	L185P	probably damaging	Het
Atp8b3	G	T	10: 80,355,896 (GRCm39)	T1272K	probably benign	Het
Cars2	A	G	8: 11,587,304 (GRCm39)	V193A	probably benign	Het
Ccn5	C	T	2: 163,667,160 (GRCm39)	R54*	probably null	Het
Ccr8	A	T	9: 119,923,613 (GRCm39)	I243F	possibly damaging	Het
Col12a1	A	G	9: 79,538,901 (GRCm39)	V2465A	probably damaging	Het
Ctbp1	T	C	5: 33,416,616 (GRCm39)	N127S	probably benign	Het
Ddx10	A	G	9: 53,149,377 (GRCm39)	S117P	probably damaging	Het
Dgkb	T	C	12: 38,189,494 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,916,273 (GRCm39)	D3520V	probably damaging	Het
Dnah11	C	T	12: 117,918,630 (GRCm39)	D1530N	probably damaging	Het
Dock5	T	C	14: 67,994,640 (GRCm39)	T1807A	probably benign	Het
Drd3	C	T	16: 43,641,842 (GRCm39)	T386I	probably damaging	Het
Dsg1b	A	G	18: 20,542,316 (GRCm39)	N941S	probably damaging	Het
Enpp3	T	C	10: 24,696,513 (GRCm39)	T141A	probably benign	Het
Esyt1	A	T	10: 128,356,566 (GRCm39)	C360S	possibly damaging	Het
Ethe1	T	A	7: 24,305,682 (GRCm39)	V143D	probably damaging	Het
Fam170b	A	G	14: 32,557,336 (GRCm39)	D57G	probably benign	Het
Fam53c	T	C	18: 34,901,229 (GRCm39)	S49P	probably damaging	Het
Fbp1	G	A	13: 63,023,067 (GRCm39)	L77F	probably benign	Het
Gm17093	A	G	14: 44,758,149 (GRCm39)	E110G		Het
Gm21976	G	T	13: 98,423,821 (GRCm39)		silent	Het
Golgb1	T	C	16: 36,733,978 (GRCm39)	I1075T	probably damaging	Het
Grip2	T	C	6: 91,754,391 (GRCm39)	D628G	probably damaging	Het
Gtpbp1	G	T	15: 79,601,929 (GRCm39)	L557F	probably benign	Het
Ighv12-3	A	T	12: 114,330,204 (GRCm39)	F97Y	probably benign	Het
Itga8	T	C	2: 12,196,045 (GRCm39)	H635R	possibly damaging	Het
Itgb7	A	G	15: 102,127,037 (GRCm39)	L466S	probably damaging	Het
Ktn1	A	G	14: 47,901,248 (GRCm39)	E2G	probably damaging	Het
Lcmt1	T	A	7: 123,000,669 (GRCm39)	Y68N	probably damaging	Het
Marchf10	G	T	11: 105,280,815 (GRCm39)	S490*	probably null	Het
Mterf1b	A	T	5: 4,246,437 (GRCm39)	Y26F	probably benign	Het
Myo18b	T	A	5: 113,006,346 (GRCm39)	I855F	probably benign	Het
Nek4	G	A	14: 30,675,915 (GRCm39)	M83I	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	T	C	5: 118,017,405 (GRCm39)	V256A	probably benign	Het
Nr1h2	T	C	7: 44,201,463 (GRCm39)	T50A	probably benign	Het
Or14c42-ps1	T	A	7: 86,211,317 (GRCm39)	*126K	probably null	Het
Or4n4	A	C	14: 50,518,816 (GRCm39)	M298R	possibly damaging	Het
Ovol2	G	C	2: 144,147,834 (GRCm39)	R172G	probably damaging	Het
Parp14	A	G	16: 35,677,187 (GRCm39)	I927T	probably damaging	Het
Pcdhga7	T	A	18: 37,848,879 (GRCm39)	H295Q	probably benign	Het
Pkhd1l1	C	T	15: 44,400,291 (GRCm39)	T2145I	probably damaging	Het
Plekhs1	C	T	19: 56,461,680 (GRCm39)	T139I	possibly damaging	Het
Rab11fip3	T	A	17: 26,231,007 (GRCm39)	D746V	probably damaging	Het
Rnf214	A	C	9: 45,809,728 (GRCm39)		probably null	Het
Rtn4ip1	A	T	10: 43,822,415 (GRCm39)		probably null	Het
S1pr1	T	C	3: 115,505,569 (GRCm39)	R342G		Het
Serpina1f	T	C	12: 103,656,131 (GRCm39)	S366G	probably benign	Het
Sestd1	A	T	2: 77,042,708 (GRCm39)	M282K	probably benign	Het
Siglecf	T	G	7: 43,001,140 (GRCm39)	V36G	probably damaging	Het
Slc1a1	T	C	19: 28,886,869 (GRCm39)	V410A	probably damaging	Het
Slc38a4	C	A	15: 96,917,684 (GRCm39)	D14Y	probably benign	Het
Slk	C	T	19: 47,610,748 (GRCm39)	T806M	probably damaging	Het
Slurp2	C	A	15: 74,615,249 (GRCm39)	V48F	possibly damaging	Het
Socs1	A	G	16: 10,602,642 (GRCm39)	S32P	possibly damaging	Het
Son	T	C	16: 91,455,057 (GRCm39)	V1268A	possibly damaging	Het
Sp7	C	A	15: 102,274,880 (GRCm39)		probably benign	Het
Speer4a2	T	G	5: 26,290,745 (GRCm39)	E142A	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tet2	T	C	3: 133,193,804 (GRCm39)	N210S	probably benign	Het
Tkfc	T	C	19: 10,570,700 (GRCm39)	D492G	probably damaging	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Trmt9b	A	G	8: 36,972,729 (GRCm39)	K60E	probably damaging	Het
Tshz2	C	A	2: 169,726,524 (GRCm39)	F373L	probably damaging	Het
Ttc29	T	A	8: 79,042,336 (GRCm39)	L307Q	probably damaging	Het
Tubd1	G	A	11: 86,439,659 (GRCm39)	M1I	probably null	Het
Vmn1r62	T	A	7: 5,678,601 (GRCm39)	M94K	probably damaging	Het
Vmn2r125	T	C	4: 156,703,186 (GRCm39)	I188T	possibly damaging	Het
Vmn2r5	T	C	3: 64,398,564 (GRCm39)	D805G	probably damaging	Het
Vmn2r6	A	T	3: 64,463,576 (GRCm39)	D419E	probably damaging	Het
Vps39	A	T	2: 120,174,687 (GRCm39)	Y98*	probably null	Het
Zdbf2	G	A	1: 63,347,162 (GRCm39)	G1847D	probably benign	Het
Zdhhc6	T	C	19: 55,287,239 (GRCm39)	E407G	probably benign	Het
Zfp407	A	G	18: 84,577,057 (GRCm39)	I1352T	probably damaging	Het
Zfp607a	A	G	7: 27,578,786 (GRCm39)	K619E	possibly damaging	Het
Zfp811	A	T	17: 33,017,622 (GRCm39)	N139K	probably benign	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
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'- GGATCTCCAGTGCTCTCTTG -3'
(R):5'- GAGTTGCACTCCTATCGTGTCC -3'

Sequencing Primer
(F):5'- TCTTGCACAGTGGCTCAG -3'
(R):5'- CCTATCGTGTCCACTCATCAG -3'

Posted On

2021-08-31