Mutagenetix > Incidental Mutation

Incidental Mutation 'R2357:Klrd1'

247432

Institutional Source

Beutler Lab

Gene Symbol

Klrd1

Ensembl Gene

ENSMUSG00000030165

Gene Name

killer cell lectin-like receptor, subfamily D, member 1

Synonyms

CD94

MMRRC Submission

040339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129568745-129575738 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 129573872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Lysine at position 71 (*71K)

Ref Sequence

ENSEMBL: ENSMUSP00000123703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032268] [ENSMUST00000112063] [ENSMUST00000119520] [ENSMUST00000159804]

AlphaFold

O54707

Predicted Effect

probably null
Transcript: ENSMUST00000032268
AA Change: Y98*

SMART Domains

Protein: ENSMUSP00000032268
Gene: ENSMUSG00000030165
AA Change: Y98*

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
CLECT	38	151	8.6e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112063
AA Change: Y121*

SMART Domains

Protein: ENSMUSP00000107694
Gene: ENSMUSG00000030165
AA Change: Y121*

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
CLECT	61	175	2.84e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000119520
AA Change: Y140*

SMART Domains

Protein: ENSMUSP00000113399
Gene: ENSMUSG00000030165
AA Change: Y140*

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
CLECT	61	194	1.41e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159077

Predicted Effect

probably null
Transcript: ENSMUST00000159804
AA Change: *71K

SMART Domains

Protein: ENSMUSP00000123703
Gene: ENSMUSG00000030165
AA Change: *71K

Domain	Start	End	E-Value	Type
Blast:CLECT	5	54	5e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000203965

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal NK cell function and susceptibillity to infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,569,844 (GRCm39)	T520K	possibly damaging	Het
Abca13	T	C	11: 9,247,336 (GRCm39)	L2361P	probably damaging	Het
Acsl6	T	A	11: 54,218,106 (GRCm39)	M248K	probably damaging	Het
Adam11	G	T	11: 102,665,334 (GRCm39)	V467L	probably benign	Het
Afap1	C	T	5: 36,141,618 (GRCm39)	H501Y	probably damaging	Het
Ankrd28	A	T	14: 31,486,251 (GRCm39)	Y22*	probably null	Het
Ccdc124	A	T	8: 71,321,179 (GRCm39)	L187Q	probably damaging	Het
Cdc42bpa	G	A	1: 179,894,792 (GRCm39)	S324N	possibly damaging	Het
Cgnl1	T	A	9: 71,632,950 (GRCm39)	K134*	probably null	Het
Cnpy3	G	T	17: 47,062,909 (GRCm39)	S47R	probably damaging	Het
Cpne8	A	T	15: 90,503,877 (GRCm39)	L96Q	probably damaging	Het
Crisp3	A	T	17: 40,533,396 (GRCm39)	Y212N	probably damaging	Het
Cryba1	A	T	11: 77,613,427 (GRCm39)		probably benign	Het
Cyc1	A	G	15: 76,229,766 (GRCm39)	M288V	possibly damaging	Het
Dnah8	T	A	17: 30,990,846 (GRCm39)	D3296E	probably benign	Het
Dnah8	A	G	17: 31,093,909 (GRCm39)	T4668A	probably benign	Het
Dnajb6	T	A	5: 29,958,638 (GRCm39)	F113I	probably damaging	Het
Dync2h1	A	G	9: 7,081,053 (GRCm39)	I2881T	probably benign	Het
Eps8l1	T	C	7: 4,473,354 (GRCm39)	S179P	probably benign	Het
Esco2	C	A	14: 66,064,000 (GRCm39)	A395S	probably benign	Het
Evi5l	T	C	8: 4,243,113 (GRCm39)		probably benign	Het
Exoc6b	T	C	6: 84,966,321 (GRCm39)	T218A	possibly damaging	Het
Gde1	A	T	7: 118,290,814 (GRCm39)	F170L	probably benign	Het
Ggt5	A	C	10: 75,445,075 (GRCm39)	I361L	probably benign	Het
Golga3	C	T	5: 110,350,514 (GRCm39)	T683M	probably damaging	Het
Golgb1	A	G	16: 36,732,370 (GRCm39)	Q539R	probably damaging	Het
Grm2	A	G	9: 106,524,780 (GRCm39)	V645A	probably damaging	Het
Gtf2h4	A	T	17: 35,978,891 (GRCm39)	V408D	probably damaging	Het
Gucy1a2	A	T	9: 3,797,299 (GRCm39)	H583L	probably damaging	Het
Hivep2	C	T	10: 14,019,043 (GRCm39)	A1938V	probably benign	Het
Iars1	T	C	13: 49,841,679 (GRCm39)	Y56H	probably damaging	Het
Il17re	A	G	6: 113,445,431 (GRCm39)	I381V	possibly damaging	Het
Kng1	A	T	16: 22,897,815 (GRCm39)	Y405F	possibly damaging	Het
Kptn	G	T	7: 15,859,709 (GRCm39)	C311F	probably damaging	Het
Lama5	T	C	2: 179,821,890 (GRCm39)	I2982V	probably benign	Het
Mamstr	G	T	7: 45,291,754 (GRCm39)	D35Y	probably damaging	Het
Mdc1	A	G	17: 36,158,337 (GRCm39)	D239G	probably benign	Het
Mindy3	T	G	2: 12,408,987 (GRCm39)		probably benign	Het
Mrpl39	A	T	16: 84,524,452 (GRCm39)	H204Q	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo5a	T	A	9: 75,108,647 (GRCm39)	M1476K	probably damaging	Het
Nol4	A	G	18: 23,172,967 (GRCm39)	S45P	probably benign	Het
Nol8	T	C	13: 49,807,980 (GRCm39)		probably null	Het
Or4f61	A	G	2: 111,922,743 (GRCm39)	I101T	possibly damaging	Het
Or5d18	A	T	2: 87,865,028 (GRCm39)	W152R	probably damaging	Het
Or6c207	C	A	10: 129,104,642 (GRCm39)	K183N	probably benign	Het
Or8b56	T	C	9: 38,739,634 (GRCm39)	S216P	probably benign	Het
Plau	T	A	14: 20,888,683 (GRCm39)	V100D	probably damaging	Het
Plpp7	T	C	2: 31,999,654 (GRCm39)	V6A	probably benign	Het
Prr14	T	C	7: 127,074,535 (GRCm39)	S356P	probably benign	Het
Rabl3	A	G	16: 37,362,293 (GRCm39)	D44G	probably null	Het
Rasa4	T	C	5: 136,120,101 (GRCm39)	V59A	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Rictor	A	T	15: 6,813,043 (GRCm39)	N932I	probably damaging	Het
Rpl9-ps6	A	G	19: 32,443,743 (GRCm39)	V70A	probably benign	Het
S100a7l2	A	T	3: 90,995,733 (GRCm39)	S56R	probably benign	Het
St3gal1	A	G	15: 66,985,631 (GRCm39)	Y8H	probably benign	Het
Strn	G	A	17: 78,963,028 (GRCm39)	T745I	probably damaging	Het
Tbx15	C	T	3: 99,223,672 (GRCm39)		probably null	Het
Tbx20	T	A	9: 24,681,072 (GRCm39)	D140V	possibly damaging	Het
Ttn	A	C	2: 76,666,923 (GRCm39)	Y42*	probably null	Het
Usp9y	G	A	Y: 1,394,050 (GRCm39)	T560I	possibly damaging	Het
Vmn2r111	A	G	17: 22,778,151 (GRCm39)		probably benign	Het
Vps13d	GG	GGGGGG	4: 144,801,547 (GRCm39)		probably null	Het
Wfdc12	A	T	2: 164,032,170 (GRCm39)	I40N	probably damaging	Het
Zfp78	G	A	7: 6,382,056 (GRCm39)	G369R	probably damaging	Het

Other mutations in Klrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4305001:Klrd1	UTSW	6	129,573,670 (GRCm39)	missense	unknown
R0056:Klrd1	UTSW	6	129,570,738 (GRCm39)	missense	probably benign	0.06
R2284:Klrd1	UTSW	6	129,575,344 (GRCm39)	missense	probably benign	0.09
R5381:Klrd1	UTSW	6	129,572,397 (GRCm39)	missense	possibly damaging	0.46
R5421:Klrd1	UTSW	6	129,575,406 (GRCm39)	missense	probably damaging	1.00
R6090:Klrd1	UTSW	6	129,572,499 (GRCm39)	missense	probably damaging	1.00
R6897:Klrd1	UTSW	6	129,570,468 (GRCm39)	missense	possibly damaging	0.94
R7563:Klrd1	UTSW	6	129,570,701 (GRCm39)	missense	possibly damaging	0.85
R9243:Klrd1	UTSW	6	129,568,795 (GRCm39)	start codon destroyed	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTCCACGAGTGAATGACCTAGTC -3'
(R):5'- CATGCTCCACACAAGGTATTTG -3'

Sequencing Primer
(F):5'- GACCTAGTCACTGAAAAGTTTAAGG -3'
(R):5'- CACAAGGTATTTGGGTTTCTGAGCC -3'

Posted On

2014-11-11