Mutagenetix > Incidental Mutation

Incidental Mutation 'R5286:Klra6'

424352

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

042870-MU

Accession Numbers

Essential gene?

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

Stock #

R5286 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129989996-130003917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129995932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 142 (T142I)

Ref Sequence

ENSEMBL: ENSMUSP00000073700 (fasta)

Gene Model

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

AlphaFold

Q60653

Predicted Effect

probably benign
Transcript: ENSMUST00000074056
AA Change: T142I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000073700
Gene: ENSMUSG00000061769
AA Change: T142I

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (64/64)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,742,358 (GRCm39)	I417V	probably benign	Het
Adad1	T	C	3: 37,119,399 (GRCm39)	V160A	possibly damaging	Het
Adcy7	A	G	8: 89,051,487 (GRCm39)	E869G	probably damaging	Het
Birc6	G	A	17: 74,977,242 (GRCm39)	A4352T	probably damaging	Het
Brd2	T	A	17: 34,334,205 (GRCm39)	T286S	probably damaging	Het
Bsn	G	T	9: 107,988,123 (GRCm39)		probably benign	Het
Cables1	A	G	18: 12,057,884 (GRCm39)	T335A	probably benign	Het
Cacna1d	A	T	14: 30,072,682 (GRCm39)	S98T	possibly damaging	Het
Ccdc181	A	G	1: 164,105,810 (GRCm39)	Y15C	probably damaging	Het
Dlgap4	T	G	2: 156,587,839 (GRCm39)	V39G	probably damaging	Het
Epb41l3	G	A	17: 69,569,268 (GRCm39)	R504H	probably benign	Het
Fbxo7	T	C	10: 85,857,954 (GRCm39)	L23P	probably damaging	Het
Gm42791	A	C	5: 148,887,178 (GRCm39)		probably benign	Het
Gprc5b	A	T	7: 118,582,910 (GRCm39)	F320I	possibly damaging	Het
Gtf3c1	G	A	7: 125,262,580 (GRCm39)	T1093M	possibly damaging	Het
Hddc3	G	T	7: 79,993,543 (GRCm39)	R83L	probably damaging	Het
Iars2	T	C	1: 185,055,318 (GRCm39)		probably benign	Het
Ift25	T	A	4: 107,136,998 (GRCm39)	I132N	probably damaging	Het
Igfn1	T	C	1: 135,895,599 (GRCm39)	K1656E	probably benign	Het
Itk	A	C	11: 46,228,926 (GRCm39)		probably null	Het
Knop1	C	T	7: 118,454,993 (GRCm39)	A3T	probably damaging	Het
Lamc3	A	G	2: 31,808,608 (GRCm39)	H788R	probably damaging	Het
Lrif1	A	G	3: 106,639,859 (GRCm39)	R315G	probably damaging	Het
Mfap3l	A	G	8: 61,109,903 (GRCm39)	D93G	probably benign	Het
Ngef	T	C	1: 87,473,552 (GRCm39)	S77G	probably benign	Het
Nt5dc3	T	C	10: 86,640,656 (GRCm39)	S13P	probably benign	Het
Or9s13	T	C	1: 92,548,084 (GRCm39)	V152A	probably benign	Het
Pclo	T	C	5: 14,729,761 (GRCm39)		probably benign	Het
Pkhd1l1	C	T	15: 44,378,368 (GRCm39)	Q1041*	probably null	Het
Ppl	G	A	16: 4,906,987 (GRCm39)	R1103*	probably null	Het
Ppp4r3b	T	A	11: 29,161,667 (GRCm39)	D680E	probably benign	Het
Rasgrf2	T	G	13: 92,267,941 (GRCm39)	K21T	possibly damaging	Het
Rev1	T	A	1: 38,094,407 (GRCm39)	K1004*	probably null	Het
Rgs9	T	G	11: 109,130,277 (GRCm39)		probably null	Het
Rnf31	T	C	14: 55,829,693 (GRCm39)	L86P	probably damaging	Het
Rps13	A	G	7: 115,933,155 (GRCm39)	Y18H	probably damaging	Het
Rxfp2	T	C	5: 149,958,909 (GRCm39)	F33S	probably damaging	Het
Sfmbt1	G	A	14: 30,538,777 (GRCm39)	V799M	probably damaging	Het
Stard9	T	A	2: 120,532,428 (GRCm39)	V2895D	probably benign	Het
Syn3	T	C	10: 86,187,428 (GRCm39)	N232S	possibly damaging	Het
Taok3	T	A	5: 117,404,140 (GRCm39)	Y772N	probably damaging	Het
Tspan4	A	G	7: 141,062,483 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,684,530 (GRCm39)		probably benign	Het
Vwa3b	T	A	1: 37,084,120 (GRCm39)	W98R	probably damaging	Het
Vwa5b2	A	T	16: 20,415,058 (GRCm39)	D360V	probably damaging	Het
Wdr73	A	T	7: 80,541,557 (GRCm39)	D328E	probably benign	Het
Xpo5	A	G	17: 46,545,406 (GRCm39)	N824S	probably benign	Het
Zbtb2	C	T	10: 4,318,566 (GRCm39)	G487S	possibly damaging	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
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'- TATTCAGGGTTAGAGACAGAGTCTAAG -3'
(R):5'- TGATTCATCCATGATTGACACAGG -3'

Sequencing Primer
(F):5'- TCTAAGAAAATAAGGGGCAAGTAAGC -3'
(R):5'- TCCATGATTGACACAGGAAATATTTC -3'

Posted On

2016-08-04