Mutagenetix > Incidental Mutation

Incidental Mutation 'R5764:Klra6'

446171

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

043365-MU

Accession Numbers

Essential gene?

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

Stock #

R5764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129989996-130003917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129999692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 92 (Q92L)

Ref Sequence

ENSEMBL: ENSMUSP00000073700 (fasta)

Gene Model

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

AlphaFold

Q60653

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074056
AA Change: Q92L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073700
Gene: ENSMUSG00000061769
AA Change: Q92L

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (53/54)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,413,423 (GRCm39)	V536I	possibly damaging	Het
Arap2	T	C	5: 62,800,197 (GRCm39)	T1277A	probably damaging	Het
Cep85l	A	T	10: 53,225,090 (GRCm39)	D166E	probably benign	Het
Cope	T	C	8: 70,759,231 (GRCm39)	S125P	probably damaging	Het
Dzip3	A	G	16: 48,747,724 (GRCm39)		probably benign	Het
Endou	G	A	15: 97,612,488 (GRCm39)	R253C	probably damaging	Het
Entpd1	A	T	19: 40,727,417 (GRCm39)		probably null	Het
Fhip1a	A	G	3: 85,573,172 (GRCm39)	Y926H	probably damaging	Het
Grk3	A	G	5: 113,114,776 (GRCm39)		probably null	Het
Hba-a2	T	A	11: 32,247,156 (GRCm39)		probably null	Het
Hecw1	C	T	13: 14,497,094 (GRCm39)	V305I	probably damaging	Het
Hspg2	C	A	4: 137,289,032 (GRCm39)	T3735K	probably damaging	Het
Htr4	G	A	18: 62,570,613 (GRCm39)	A223T	probably damaging	Het
Iglv1	T	C	16: 18,904,190 (GRCm39)	I7M	unknown	Het
Jag1	C	T	2: 136,931,167 (GRCm39)	C655Y	probably damaging	Het
Jmjd1c	C	T	10: 67,062,291 (GRCm39)	T1548I	probably damaging	Het
Kif5a	GGGTTGGT	GGGT	10: 127,066,898 (GRCm39)		probably null	Het
Lrp1	T	C	10: 127,431,187 (GRCm39)	N325S	probably benign	Het
Ly75	C	T	2: 60,148,783 (GRCm39)	R1182H	probably benign	Het
Map2	T	C	1: 66,454,034 (GRCm39)	S975P	probably damaging	Het
Med13l	T	A	5: 118,866,707 (GRCm39)	L587Q	probably damaging	Het
Mpdz	A	G	4: 81,274,683 (GRCm39)	F180L	probably benign	Het
Myadm	G	A	7: 3,345,768 (GRCm39)	V177I	possibly damaging	Het
Ngly1	T	A	14: 16,260,799 (GRCm38)	M161K	probably benign	Het
Nup153	A	G	13: 46,840,803 (GRCm39)	M255T	probably damaging	Het
Pgm1	C	T	4: 99,822,043 (GRCm39)	A303V	probably damaging	Het
Pgr	A	T	9: 8,900,538 (GRCm39)	I24F	probably benign	Het
Pigq	A	T	17: 26,151,093 (GRCm39)	I412N	probably damaging	Het
Plod2	A	G	9: 92,485,074 (GRCm39)	H525R	probably damaging	Het
Polq	T	G	16: 36,837,706 (GRCm39)	M206R	probably damaging	Het
Psap	T	A	10: 60,129,186 (GRCm39)	S100T	probably benign	Het
Psme4	G	A	11: 30,722,364 (GRCm39)		probably benign	Het
Serpina1d	T	A	12: 103,732,080 (GRCm39)	M260L	probably benign	Het
Serpinf2	A	G	11: 75,328,230 (GRCm39)	L106P	possibly damaging	Het
Sumf1	C	T	6: 108,095,424 (GRCm39)		probably benign	Het
Tcp1	A	G	17: 13,135,489 (GRCm39)	T13A	probably benign	Het
Tfap2a	A	C	13: 40,881,831 (GRCm39)	I185S	possibly damaging	Het
Tlr2	A	C	3: 83,745,819 (GRCm39)	I88S	probably damaging	Het
Tmc4	A	T	7: 3,675,022 (GRCm39)	F283L	probably damaging	Het
Tox4	T	C	14: 52,523,277 (GRCm39)	V79A	probably damaging	Het
Trim10	A	T	17: 37,181,073 (GRCm39)	E101D	probably damaging	Het
Troap	T	A	15: 98,973,300 (GRCm39)	I22N	probably damaging	Het
Unc13c	C	T	9: 73,441,185 (GRCm39)		probably null	Het
Utp4	T	G	8: 107,644,248 (GRCm39)	V529G	possibly damaging	Het
Zeb2	T	C	2: 44,886,931 (GRCm39)	M664V	possibly damaging	Het
Zfp180	A	G	7: 23,800,909 (GRCm39)	Y53C	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
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
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'- AGCTGATGGATGTACTTCAAAGCTTC -3'
(R):5'- ATGCGTTGGCTGTCCTCATG -3'

Sequencing Primer
(F):5'- GATGTACTTCAAAGCTTCAGAGAAG -3'
(R):5'- GGCTGTCCTCATGAAGCTTTTTC -3'

Posted On

2016-11-21