Mutagenetix > Incidental Mutation

Incidental Mutation 'R1708:Klra6'

190222

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

039741-MU

Accession Numbers

Essential gene?

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

Stock #

R1708 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129989996-130003917 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 129999677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 97 (L97*)

Ref Sequence

ENSEMBL: ENSMUSP00000073700 (fasta)

Gene Model

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

AlphaFold

Q60653

Predicted Effect

probably null
Transcript: ENSMUST00000074056
AA Change: L97*

SMART Domains

Protein: ENSMUSP00000073700
Gene: ENSMUSG00000061769
AA Change: L97*

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	A	T	6: 40,941,732 (GRCm39)	I4F	probably benign	Het
Aadacl4fm1	T	C	4: 144,246,511 (GRCm39)	V19A	probably benign	Het
Abca8a	A	T	11: 109,943,928 (GRCm39)	S1114T	probably damaging	Het
Adgre1	A	T	17: 57,708,974 (GRCm39)	Y55F	possibly damaging	Het
Alb	A	C	5: 90,611,910 (GRCm39)	D113A	possibly damaging	Het
Ankrd33b	C	T	15: 31,305,155 (GRCm39)	R203Q	probably damaging	Het
Aqp6	T	C	15: 99,500,543 (GRCm39)	V156A	possibly damaging	Het
AU018091	T	C	7: 3,206,184 (GRCm39)	S616G	probably damaging	Het
Cfd	T	A	10: 79,727,441 (GRCm39)	D68E	probably benign	Het
Cntn2	C	T	1: 132,446,936 (GRCm39)	A725T	probably damaging	Het
Copg2	A	C	6: 30,801,312 (GRCm39)	D373E	probably damaging	Het
Cyp2d11	T	C	15: 82,274,633 (GRCm39)	T315A	probably benign	Het
Cyp2j13	G	T	4: 95,950,304 (GRCm39)	N232K	probably damaging	Het
Cyp2j8	A	T	4: 96,387,832 (GRCm39)	F210I	probably damaging	Het
Dnah9	G	A	11: 65,805,980 (GRCm39)	T3373M	probably benign	Het
Eif2ak3	A	G	6: 70,864,790 (GRCm39)	K549E	probably damaging	Het
Epha3	C	T	16: 63,403,870 (GRCm39)	V744I	probably damaging	Het
Erich6	T	C	3: 58,523,868 (GRCm39)	S669G	probably benign	Het
Fam90a1a	A	T	8: 22,451,464 (GRCm39)	K108N	probably damaging	Het
Fat1	G	A	8: 45,477,829 (GRCm39)	V2292M	probably damaging	Het
Fibp	T	C	19: 5,513,822 (GRCm39)	C255R	probably null	Het
Fzd1	A	G	5: 4,805,791 (GRCm39)	V597A	possibly damaging	Het
Gm12790	G	A	4: 101,825,174 (GRCm39)	A80V	possibly damaging	Het
Gm2381	A	T	7: 42,469,649 (GRCm39)	N158K	probably benign	Het
Impg2	T	A	16: 56,085,441 (GRCm39)	D940E	probably benign	Het
Ints1	A	T	5: 139,748,594 (GRCm39)	V1071E	probably damaging	Het
Kat5	A	T	19: 5,659,507 (GRCm39)	Y44*	probably null	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Ly6c2	C	T	15: 74,983,469 (GRCm39)		probably null	Het
Mon1a	G	A	9: 107,775,917 (GRCm39)	E12K	probably benign	Het
Myo3b	A	T	2: 70,075,729 (GRCm39)	K578*	probably null	Het
Myrip	A	T	9: 120,293,840 (GRCm39)	R778S	possibly damaging	Het
Ncoa4-ps	A	G	12: 119,225,968 (GRCm39)		noncoding transcript	Het
Or2w4	C	T	13: 21,795,240 (GRCm39)	A300T	probably damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
Or4c35	A	G	2: 89,808,382 (GRCm39)	R87G	probably benign	Het
Or52n4b	T	A	7: 108,143,781 (GRCm39)	F14L	probably benign	Het
Or5b121	T	C	19: 13,507,277 (GRCm39)	V80A	probably damaging	Het
Panx3	T	C	9: 37,572,687 (GRCm39)	I288V	probably benign	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pigc	T	A	1: 161,798,293 (GRCm39)	S92T	probably benign	Het
Pou3f2	C	A	4: 22,487,255 (GRCm39)	V293L	possibly damaging	Het
Rbm15	A	G	3: 107,238,536 (GRCm39)	S621P	probably damaging	Het
Rnf220	T	C	4: 117,347,083 (GRCm39)	S110G	probably benign	Het
Rnf38	A	T	4: 44,143,593 (GRCm39)	V115D	probably damaging	Het
Rps6ka2	A	G	17: 7,544,929 (GRCm39)	H347R	probably damaging	Het
Ryr2	T	C	13: 11,602,328 (GRCm39)		probably null	Het
Sema4f	G	T	6: 82,894,975 (GRCm39)	P407T	probably damaging	Het
Setbp1	T	C	18: 78,901,682 (GRCm39)	T662A	probably damaging	Het
Slc27a1	C	A	8: 72,037,274 (GRCm39)		probably null	Het
Slc41a2	T	A	10: 83,069,596 (GRCm39)	I519F	probably damaging	Het
Sntg2	C	T	12: 30,423,179 (GRCm39)	S17N	possibly damaging	Het
Sptb	A	G	12: 76,659,348 (GRCm39)	L1184P	probably damaging	Het
Taf5l	G	A	8: 124,736,509 (GRCm39)	Q21*	probably null	Het
Tbc1d32	A	C	10: 56,027,865 (GRCm39)	S746A	possibly damaging	Het
Tdrd1	T	G	19: 56,830,721 (GRCm39)	S251R	probably benign	Het
Thap7	C	T	16: 17,346,814 (GRCm39)	R121Q	probably benign	Het
Tmem50a	A	G	4: 134,625,779 (GRCm39)	V146A	probably benign	Het
Tmprss15	T	C	16: 78,850,958 (GRCm39)	I327V	possibly damaging	Het
Tmt1a3	A	G	15: 100,233,150 (GRCm39)	N114D	probably damaging	Het
Ttc23	T	C	7: 67,316,924 (GRCm39)	I65T	probably damaging	Het
Vmn1r22	G	T	6: 57,877,481 (GRCm39)	H165Q	possibly damaging	Het
Vopp1	C	T	6: 57,739,497 (GRCm39)	R17H	probably damaging	Het
Vwa5a	A	G	9: 38,639,128 (GRCm39)	K337E	probably benign	Het
Wrap53	G	A	11: 69,454,761 (GRCm39)	R203*	probably null	Het
Zfp944	T	C	17: 22,558,026 (GRCm39)	Y407C	probably 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
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
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'- TGTCACTACAGGAAGTAAGGAACCCC -3'
(R):5'- TGCGTTGGCTGTCCTCATGAAG -3'

Sequencing Primer
(F):5'- GCTGATGGATGTACTTCAAAGC -3'
(R):5'- CAGTATGGTCAACACAACCAAG -3'

Posted On

2014-05-14