Mutagenetix > Incidental Mutation

Incidental Mutation 'R7021:Klra6'

545625

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

045122-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R7021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129989996-130003917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129995821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 179 (V179E)

Ref Sequence

ENSEMBL: ENSMUSP00000073700 (fasta)

Gene Model

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

AlphaFold

Q60653

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074056
AA Change: V179E

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073700
Gene: ENSMUSG00000061769
AA Change: V179E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,442,062 (GRCm39)	L63R	probably damaging	Het
Abcb5	C	T	12: 118,895,660 (GRCm39)	V379I	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ahsa1	T	C	12: 87,318,154 (GRCm39)	S37P	possibly damaging	Het
Arnt2	A	T	7: 83,993,150 (GRCm39)	L130H	probably damaging	Het
Atp8b5	T	A	4: 43,355,618 (GRCm39)	F533I	probably damaging	Het
Best1	A	G	19: 9,964,143 (GRCm39)	V439A	probably benign	Het
Bicc1	A	G	10: 70,796,978 (GRCm39)	V127A	probably damaging	Het
Brd7	T	C	8: 89,073,632 (GRCm39)	T253A	probably benign	Het
Btd	A	G	14: 31,389,788 (GRCm39)	D503G	probably benign	Het
Ccdc80	A	G	16: 44,924,804 (GRCm39)	E646G	probably damaging	Het
Ccl25	A	G	8: 4,399,641 (GRCm39)		probably benign	Het
Ccnf	C	A	17: 24,461,205 (GRCm39)	W150L	probably damaging	Het
Cdk11b	A	T	4: 155,726,024 (GRCm39)		probably benign	Het
Cfap73	T	C	5: 120,768,149 (GRCm39)	E203G	probably benign	Het
Cmya5	T	C	13: 93,230,063 (GRCm39)	E1675G	possibly damaging	Het
Copg1	T	A	6: 87,871,087 (GRCm39)	Y268N	possibly damaging	Het
Csnk2a1	T	A	2: 152,102,732 (GRCm39)	H126Q	probably damaging	Het
Ctbs	G	A	3: 146,160,703 (GRCm39)	G90D	probably damaging	Het
Ctnna2	T	C	6: 77,613,888 (GRCm39)	Y221C	probably damaging	Het
Cypt12	C	T	3: 18,002,635 (GRCm39)	R3C	unknown	Het
D630003M21Rik	A	T	2: 158,058,670 (GRCm39)	M410K	possibly damaging	Het
Dnah9	A	T	11: 65,872,057 (GRCm39)	N2724K	probably benign	Het
Dok3	T	C	13: 55,672,097 (GRCm39)	T194A	probably benign	Het
Edem3	T	G	1: 151,631,423 (GRCm39)	S36A	probably benign	Het
Eed	C	T	7: 89,629,727 (GRCm39)	E3K	possibly damaging	Het
Efcab2	A	G	1: 178,308,925 (GRCm39)	I143V	probably benign	Het
Ensa	A	T	3: 95,534,359 (GRCm39)		probably null	Het
Galnt16	A	T	12: 80,626,826 (GRCm39)	E219V	probably damaging	Het
Gfra3	C	A	18: 34,823,933 (GRCm39)	R347L	probably benign	Het
Gm2042	T	A	12: 87,927,009 (GRCm39)	I442K	probably damaging	Het
Gpld1	A	T	13: 25,168,691 (GRCm39)	D735V	probably damaging	Het
Hspg2	T	C	4: 137,269,580 (GRCm39)	S2253P	possibly damaging	Het
Kit	T	C	5: 75,781,627 (GRCm39)	I352T	probably benign	Het
Lctl	T	A	9: 64,040,075 (GRCm39)		probably null	Het
Lman1	C	A	18: 66,124,714 (GRCm39)	V342L	probably benign	Het
Lrrn2	T	C	1: 132,866,522 (GRCm39)	L529P	probably damaging	Het
Mab21l2	A	G	3: 86,454,793 (GRCm39)	I69T	probably benign	Het
Mapkapk5	G	T	5: 121,665,274 (GRCm39)	A327E	probably benign	Het
Mex3b	G	T	7: 82,519,080 (GRCm39)	R465L	possibly damaging	Het
Mgat3	A	G	15: 80,096,655 (GRCm39)	N494S	probably damaging	Het
Mgat4c	A	G	10: 102,224,289 (GRCm39)	R168G	possibly damaging	Het
Mkks	A	G	2: 136,718,007 (GRCm39)		probably null	Het
Muc16	G	T	9: 18,466,215 (GRCm39)	H7368N	unknown	Het
Muc16	T	C	9: 18,462,127 (GRCm39)		probably null	Het
Nbeal1	G	A	1: 60,300,745 (GRCm39)		probably null	Het
Notch2	T	C	3: 98,042,762 (GRCm39)	S1376P	probably benign	Het
Obox5	A	G	7: 15,491,681 (GRCm39)		probably null	Het
Or10j5	T	C	1: 172,784,494 (GRCm39)	I44T	probably benign	Het
Or6c8b	A	T	10: 128,882,899 (GRCm39)	I11N	probably damaging	Het
Pbrm1	A	G	14: 30,789,773 (GRCm39)	I807V	probably damaging	Het
Pitrm1	T	A	13: 6,628,593 (GRCm39)	V962E	probably damaging	Het
Pkd2l1	T	C	19: 44,142,647 (GRCm39)	Q465R	probably damaging	Het
Pla1a	A	G	16: 38,221,244 (GRCm39)	I372T	probably damaging	Het
Prmt5	A	C	14: 54,752,845 (GRCm39)	F122C	probably damaging	Het
Prrc2b	T	A	2: 32,111,498 (GRCm39)	S1905T	probably damaging	Het
Ptprf	T	G	4: 118,081,101 (GRCm39)	K1163N	probably benign	Het
Rab3ip	A	G	10: 116,775,283 (GRCm39)	V25A	probably damaging	Het
Raf1	T	C	6: 115,597,300 (GRCm39)		probably null	Het
Rnf180	T	C	13: 105,407,429 (GRCm39)	E40G	probably benign	Het
Rpl6	T	A	5: 121,346,972 (GRCm39)	M289K	probably benign	Het
Slc25a32	A	G	15: 38,963,321 (GRCm39)	F167L	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc4a4	T	A	5: 89,188,205 (GRCm39)		probably null	Het
Sppl2a	A	G	2: 126,769,663 (GRCm39)		probably null	Het
Tbr1	T	A	2: 61,637,688 (GRCm39)	D82E	probably benign	Het
Tbx10	A	T	19: 4,048,961 (GRCm39)	T291S	probably benign	Het
Tlr1	T	A	5: 65,083,056 (GRCm39)	H507L	possibly damaging	Het
Trim37	A	C	11: 87,058,335 (GRCm39)	T338P	probably benign	Het
Trpv5	T	C	6: 41,630,204 (GRCm39)	T629A	probably benign	Het
Ttc14	T	A	3: 33,857,646 (GRCm39)	I249N	probably damaging	Het
Uhrf1	A	G	17: 56,627,450 (GRCm39)	T661A	probably benign	Het
Vmn2r65	A	G	7: 84,596,587 (GRCm39)	I156T	probably benign	Het
Vwde	T	C	6: 13,186,905 (GRCm39)	N861D	probably damaging	Het
Zan	A	G	5: 137,422,213 (GRCm39)	C2802R	unknown	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
R4214:Klra6	UTSW	6	129,995,885 (GRCm39)	missense	probably benign	0.10
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
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'- GACTTGTGTCCCACAGTTTTG -3'
(R):5'- CTGAGAACTATGTGATTTTACCCC -3'

Sequencing Primer
(F):5'- CCACAGTTTTGTTCACATTACAGG -3'
(R):5'- ACTGGTTCTGCTACCGTA -3'

Posted On

2019-05-13