Mutagenetix > Incidental Mutation

Incidental Mutation 'R4214:Klra6'

319339

Institutional Source

Beutler Lab

Gene Symbol

Klra6

Ensembl Gene

ENSMUSG00000061769

Gene Name

killer cell lectin-like receptor, subfamily A, member 6

Synonyms

Ly49F, Ly49f

MMRRC Submission

041041-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R4214 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129989996-130003917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 129995885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 158 (I158L)

Ref Sequence

ENSEMBL: ENSMUSP00000073700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074056]

AlphaFold

Q60653

Predicted Effect

probably benign
Transcript: ENSMUST00000074056
AA Change: I158L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000073700
Gene: ENSMUSG00000061769
AA Change: I158L

Domain	Start	End	E-Value	Type
Blast:CLECT	73	123	3e-9	BLAST
CLECT	143	258	8.42e-18	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.5%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: This gene belongs to the highly polymorphic family of C-type lectin-like Ly49 genes that are expressed in natural killer (NK) cells. The encoded protein is a homodimeric type II transmembrane receptor located at the cell surface and inhibits NK cell activation upon ligand binding. This gene is located in a cluster of several Klra paralogs on chromosome 6. Different strains of mice show variation in the number of paralogs, including strain specific duplications, deletions and pseudogene sequences. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	C	T	1: 192,515,845 (GRCm39)		noncoding transcript	Het
Abca12	T	A	1: 71,327,856 (GRCm39)	D1408V	probably damaging	Het
Abca13	A	T	11: 9,243,877 (GRCm39)	L1913F	probably damaging	Het
Acad9	A	G	3: 36,127,752 (GRCm39)	E118G	probably damaging	Het
Adamts5	G	A	16: 85,665,531 (GRCm39)	A590V	probably damaging	Het
Ano6	A	C	15: 95,863,790 (GRCm39)	Y791S	probably benign	Het
Aox1	T	C	1: 58,346,603 (GRCm39)		probably null	Het
Aox4	T	A	1: 58,261,051 (GRCm39)	I128N	probably damaging	Het
Atp2b3	A	G	X: 72,613,921 (GRCm39)	M1142V	probably benign	Het
AU041133	A	G	10: 81,987,223 (GRCm39)	H292R	probably damaging	Het
Bco2	A	G	9: 50,456,666 (GRCm39)	M158T	probably benign	Het
Bpnt1	T	A	1: 185,077,626 (GRCm39)		probably benign	Het
Cadm1	A	G	9: 47,708,741 (GRCm39)	D157G	probably damaging	Het
Catsperg1	T	C	7: 28,895,357 (GRCm39)	R499G	possibly damaging	Het
Ccr7	T	C	11: 99,035,872 (GRCm39)	E350G	probably damaging	Het
Ceacam5	T	A	7: 17,486,076 (GRCm39)	S524R	probably benign	Het
Cep78	T	C	19: 15,936,943 (GRCm39)	T588A	probably benign	Het
Cfap65	T	A	1: 74,966,840 (GRCm39)	E282D	possibly damaging	Het
Drd2	A	G	9: 49,316,221 (GRCm39)	K327R	probably benign	Het
Erich5	C	T	15: 34,471,557 (GRCm39)	P262L	possibly damaging	Het
Ezh2	A	C	6: 47,510,748 (GRCm39)	D578E	probably damaging	Het
Fez1	A	G	9: 36,781,784 (GRCm39)	N20S	probably damaging	Het
Folr2	T	G	7: 101,492,906 (GRCm39)	K39T	probably damaging	Het
Gm10549	G	T	18: 33,597,530 (GRCm39)		probably null	Het
Gm14393	C	T	2: 174,903,640 (GRCm39)	C89Y	probably benign	Het
Gm5329	T	G	7: 31,671,828 (GRCm39)		noncoding transcript	Het
Gm7367	A	G	7: 59,805,517 (GRCm39)		noncoding transcript	Het
Gpr162	A	T	6: 124,837,031 (GRCm39)	W338R	probably damaging	Het
Ift80	A	T	3: 68,898,141 (GRCm39)	F65I	possibly damaging	Het
Lpp	T	A	16: 24,580,804 (GRCm39)	Y173*	probably null	Het
Lrp12	A	G	15: 39,735,976 (GRCm39)	V671A	probably benign	Het
Lrrc27	C	T	7: 138,803,609 (GRCm39)	R178C	probably damaging	Het
Lrrc49	G	A	9: 60,573,609 (GRCm39)	T225M	probably benign	Het
Megf8	T	A	7: 25,054,793 (GRCm39)	S1915T	probably benign	Het
Mmadhc	T	C	2: 50,181,344 (GRCm39)	T109A	probably benign	Het
Mon2	T	C	10: 122,852,397 (GRCm39)	E992G	probably benign	Het
Msl3	A	G	X: 167,450,059 (GRCm39)	I267T	probably damaging	Het
Msl3	A	T	X: 167,445,430 (GRCm39)	N430K	probably damaging	Het
Nab2	G	T	10: 127,500,917 (GRCm39)	Y25*	probably null	Het
Notch3	T	C	17: 32,351,181 (GRCm39)	E1938G	possibly damaging	Het
Or5ae2	C	T	7: 84,506,497 (GRCm39)	H307Y	probably benign	Het
Osgepl1	A	G	1: 53,354,167 (GRCm39)	T44A	probably damaging	Het
Pdpr	A	G	8: 111,856,212 (GRCm39)		probably benign	Het
Pfkp	A	G	13: 6,669,261 (GRCm39)	S241P	probably damaging	Het
Phgdh	A	T	3: 98,235,377 (GRCm39)	S166T	possibly damaging	Het
Plcl1	C	T	1: 55,790,494 (GRCm39)	Q1055*	probably null	Het
Plscr2	A	G	9: 92,169,790 (GRCm39)	N80S	probably benign	Het
Polr3k	A	T	2: 181,510,035 (GRCm39)	M80L	probably benign	Het
Prex2	A	G	1: 11,171,383 (GRCm39)	D304G	probably damaging	Het
Prex2	A	G	1: 11,355,285 (GRCm39)	T1529A	probably damaging	Het
Rcvrn	A	T	11: 67,586,514 (GRCm39)	H91L	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Tbx18	T	C	9: 87,606,518 (GRCm39)	Y209C	probably damaging	Het
Themis3	T	C	17: 66,867,012 (GRCm39)	N76S	probably benign	Het
Trhde	A	T	10: 114,623,975 (GRCm39)	S310T	possibly damaging	Het
Vmn1r213	G	A	13: 23,196,173 (GRCm39)	C252Y	possibly damaging	Het
Zfp523	T	C	17: 28,420,003 (GRCm39)	V216A	probably benign	Het

Other mutations in Klra6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Klra6	APN	6	130,000,663 (GRCm39)	missense	possibly damaging	0.77
IGL02037:Klra6	APN	6	129,990,439 (GRCm39)	missense	probably benign	0.02
IGL02319:Klra6	APN	6	130,002,177 (GRCm39)	missense	probably damaging	0.98
IGL02427:Klra6	APN	6	129,993,680 (GRCm39)	missense	possibly damaging	0.54
IGL02730:Klra6	APN	6	129,999,660 (GRCm39)	missense	probably benign
IGL02822:Klra6	APN	6	129,993,673 (GRCm39)	nonsense	probably null
R0485:Klra6	UTSW	6	130,000,601 (GRCm39)	missense	probably benign	0.12
R0697:Klra6	UTSW	6	129,993,687 (GRCm39)	missense	probably benign	0.18
R0731:Klra6	UTSW	6	129,999,668 (GRCm39)	missense	probably damaging	1.00
R1081:Klra6	UTSW	6	129,999,588 (GRCm39)	missense	probably damaging	0.96
R1708:Klra6	UTSW	6	129,999,677 (GRCm39)	nonsense	probably null
R1749:Klra6	UTSW	6	129,995,915 (GRCm39)	missense	probably damaging	1.00
R1842:Klra6	UTSW	6	129,999,573 (GRCm39)	missense	probably benign	0.14
R1944:Klra6	UTSW	6	129,995,908 (GRCm39)	missense	possibly damaging	0.92
R5210:Klra6	UTSW	6	129,995,855 (GRCm39)	nonsense	probably null
R5286:Klra6	UTSW	6	129,995,932 (GRCm39)	missense	probably benign	0.02
R5418:Klra6	UTSW	6	129,990,393 (GRCm39)	missense	probably damaging	0.96
R5764:Klra6	UTSW	6	129,999,692 (GRCm39)	missense	possibly damaging	0.92
R6193:Klra6	UTSW	6	129,995,881 (GRCm39)	missense	probably benign	0.12
R6536:Klra6	UTSW	6	130,000,682 (GRCm39)	missense	probably benign	0.07
R6696:Klra6	UTSW	6	129,993,696 (GRCm39)	missense	probably benign
R7021:Klra6	UTSW	6	129,995,821 (GRCm39)	missense	possibly damaging	0.93
R7718:Klra6	UTSW	6	129,990,315 (GRCm39)	frame shift	probably null
R8500:Klra6	UTSW	6	129,999,660 (GRCm39)	missense	probably benign
R8910:Klra6	UTSW	6	129,993,647 (GRCm39)	missense	probably benign
R8983:Klra6	UTSW	6	129,999,573 (GRCm39)	missense	probably benign	0.14
R9164:Klra6	UTSW	6	129,993,687 (GRCm39)	missense	possibly damaging	0.95
R9775:Klra6	UTSW	6	129,999,639 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAAACCTGGATTCAGTACCTC -3'
(R):5'- GATTCATCCATGATTGACACAGG -3'

Sequencing Primer
(F):5'- GGATTCAGTACCTCATTATTCAGGG -3'
(R):5'- TCATAGATCATGAGTGTGCAGG -3'

Posted On

2015-06-10