Mutagenetix > Incidental Mutation

Incidental Mutation 'R9243:Klrd1'

701093

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129568745-129575738 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to G at 129568795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 1 (M1R)

Ref Sequence

ENSEMBL: ENSMUSP00000107694 (fasta)

Gene Model

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

AlphaFold

O54707

Predicted Effect

probably benign
Transcript: ENSMUST00000032268

SMART Domains

Protein: ENSMUSP00000032268
Gene: ENSMUSG00000030165

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: M1R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107694
Gene: ENSMUSG00000030165
AA Change: M1R

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: M1R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113399
Gene: ENSMUSG00000030165
AA Change: M1R

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

Predicted Effect

probably null
Transcript: ENSMUST00000159804
AA Change: M1R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123703
Gene: ENSMUSG00000030165
AA Change: M1R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203965

Meta Mutation Damage Score

0.9632

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (51/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,188,035 (GRCm39)	S1816R	probably benign	Het
Appl1	A	T	14: 26,649,710 (GRCm39)	F605L	possibly damaging	Het
Cacna1g	T	A	11: 94,347,893 (GRCm39)	I732F	possibly damaging	Het
Capg	T	A	6: 72,538,070 (GRCm39)	S319T	probably benign	Het
Cdh17	T	A	4: 11,771,333 (GRCm39)	F38L	probably benign	Het
Cep295	T	A	9: 15,243,605 (GRCm39)	N1617I	probably benign	Het
Cep57	C	T	9: 13,738,204 (GRCm39)		probably benign	Het
Cfap46	A	T	7: 139,195,265 (GRCm39)		probably benign	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
Dock7	A	G	4: 98,857,871 (GRCm39)	V1481A	unknown	Het
Exoc2	T	C	13: 31,109,778 (GRCm39)	K197E	probably benign	Het
Fancg	C	T	4: 43,006,565 (GRCm39)	V330I	possibly damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gad2	A	G	2: 22,525,053 (GRCm39)	E279G	possibly damaging	Het
Gria1	A	G	11: 57,128,888 (GRCm39)	Y454C	probably benign	Het
Grik3	C	T	4: 125,601,690 (GRCm39)	R856C	probably benign	Het
Hdac4	C	A	1: 91,900,511 (GRCm39)	R622I	probably damaging	Het
Hdac4	T	C	1: 91,900,512 (GRCm39)	R622G	probably benign	Het
Htt	T	C	5: 35,056,276 (GRCm39)		probably benign	Het
Idh1	A	G	1: 65,207,656 (GRCm39)		probably null	Het
Igf1r	A	G	7: 67,861,775 (GRCm39)	S1112G	probably benign	Het
Impg2	A	T	16: 56,051,823 (GRCm39)	S242C	probably damaging	Het
Itgb1	T	A	8: 129,433,587 (GRCm39)	S34T	probably benign	Het
Kcnh8	A	G	17: 53,205,542 (GRCm39)	I546V	probably damaging	Het
Krtap16-1	A	T	11: 99,876,644 (GRCm39)	C253*	probably null	Het
Mapk7	A	G	11: 61,384,535 (GRCm39)	I57T	possibly damaging	Het
Msrb2	A	G	2: 19,388,073 (GRCm39)	N74D	probably benign	Het
Myd88	A	T	9: 119,168,773 (GRCm39)	S85T	probably benign	Het
Myo1c	G	T	11: 75,541,437 (GRCm39)		probably benign	Het
Nnt	T	A	13: 119,494,060 (GRCm39)	N674Y	unknown	Het
Nrcam	A	G	12: 44,620,607 (GRCm39)	Y878C	probably damaging	Het
Obscn	T	C	11: 59,023,392 (GRCm39)	T662A	probably benign	Het
Or14j4	T	C	17: 37,921,408 (GRCm39)	Q78R	probably benign	Het
Or4l15	A	G	14: 50,197,881 (GRCm39)	V216A	probably benign	Het
Or51ah3	A	G	7: 103,209,782 (GRCm39)	S33G	probably benign	Het
Or8k40	A	G	2: 86,584,282 (GRCm39)	S267P	possibly damaging	Het
Pappa2	C	A	1: 158,763,763 (GRCm39)	V583L	probably damaging	Het
Parp1	T	G	1: 180,415,680 (GRCm39)	S500A	probably benign	Het
Pcdhb17	A	G	18: 37,619,989 (GRCm39)	D593G	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Prrc1	C	G	18: 57,496,271 (GRCm39)	S74W	possibly damaging	Het
Rag2	G	A	2: 101,460,419 (GRCm39)	G243D	probably damaging	Het
Sgpp1	T	C	12: 75,781,961 (GRCm39)	E126G	probably damaging	Het
Skic2	G	A	17: 35,064,198 (GRCm39)	T496M	probably benign	Het
Slc17a1	C	A	13: 24,064,432 (GRCm39)	F329L	probably benign	Het
Slc52a3	G	A	2: 151,846,512 (GRCm39)	V158I	probably benign	Het
Slf1	T	A	13: 77,273,575 (GRCm39)	T75S	possibly damaging	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Tmem125	A	T	4: 118,399,089 (GRCm39)	V114E	probably damaging	Het
Ube2f	A	T	1: 91,181,980 (GRCm39)		probably benign	Het
Zdhhc19	T	A	16: 32,315,992 (GRCm39)	F30I	probably damaging	Het
Zfp236	T	C	18: 82,662,050 (GRCm39)		probably benign	Het
Zfp462	C	A	4: 55,009,595 (GRCm39)	Y520*	probably null	Het
Zzz3	A	G	3: 152,133,920 (GRCm39)	D326G	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
R2357:Klrd1	UTSW	6	129,573,872 (GRCm39)	makesense	probably null
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

Predicted Primers

PCR Primer
(F):5'- CATCTGTGTCCCACCAACAG -3'
(R):5'- ACCACTTGCTAACTCAGTTAGG -3'

Sequencing Primer
(F):5'- TGTGTCCCACCAACAGATGATTC -3'
(R):5'- TCAAGTTTCAAAACACAGAATCGAG -3'

Posted On

2022-03-25