Mutagenetix > Incidental Mutation

Incidental Mutation 'R8330:Klri2'

644303

Institutional Source

Beutler Lab

Gene Symbol

Klri2

Ensembl Gene

ENSMUSG00000043932

Gene Name

killer cell lectin-like receptor family I member 2

Synonyms

A530090P03Rik

MMRRC Submission

067799-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8330 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129706004-129717447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129710694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 142 (N142Y)

Ref Sequence

ENSEMBL: ENSMUSP00000052805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050385]

AlphaFold

Q5DT36

Predicted Effect

probably damaging
Transcript: ENSMUST00000050385
AA Change: N142Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052805
Gene: ENSMUSG00000043932
AA Change: N142Y

Domain	Start	End	E-Value	Type
transmembrane domain	82	104	N/A	INTRINSIC
CLECT	132	245	7.01e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,381,750 (GRCm39)	D1405V	probably damaging	Het
Acsl6	A	G	11: 54,236,034 (GRCm39)	I514V	probably benign	Het
Adgrv1	C	T	13: 81,593,462 (GRCm39)	R4175H	probably damaging	Het
Ahnak	T	C	19: 8,987,026 (GRCm39)	V2770A	possibly damaging	Het
B4galt1	A	G	4: 40,812,787 (GRCm39)	V246A	probably damaging	Het
Cdr2l	T	C	11: 115,284,939 (GRCm39)	V425A	probably benign	Het
Celsr1	T	A	15: 85,816,501 (GRCm39)	D1814V	probably damaging	Het
Exoc2	A	G	13: 31,061,556 (GRCm39)	V495A	probably benign	Het
Ifi47	A	G	11: 48,986,637 (GRCm39)	T135A	possibly damaging	Het
Klhl23	T	C	2: 69,654,496 (GRCm39)	V122A	probably damaging	Het
Kmt2c	A	T	5: 25,509,692 (GRCm39)	F3161L	probably null	Het
Mgl2	A	G	11: 70,026,785 (GRCm39)	T144A	probably benign	Het
Mpp3	T	C	11: 101,899,453 (GRCm39)	E356G	probably benign	Het
Neb	T	G	2: 52,117,420 (GRCm39)	T872P		Het
Nek9	A	G	12: 85,376,727 (GRCm39)	M218T	probably damaging	Het
Or10a49	A	T	7: 108,468,046 (GRCm39)	L105H	probably damaging	Het
Or4f14	A	G	2: 111,742,724 (GRCm39)	F184L	probably benign	Het
Or51k2	T	G	7: 103,596,610 (GRCm39)	I279S	possibly damaging	Het
Pabpc1l	G	A	2: 163,869,568 (GRCm39)	G123R	probably damaging	Het
Parp3	T	C	9: 106,352,069 (GRCm39)		probably null	Het
Pcdhga1	A	T	18: 37,796,376 (GRCm39)	Y460F	probably benign	Het
Pclo	A	G	5: 14,725,311 (GRCm39)	T1390A	unknown	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pex6	T	C	17: 47,023,060 (GRCm39)	L212P	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Ppib	T	C	9: 65,968,755 (GRCm39)	F48L	probably damaging	Het
Psme4	A	G	11: 30,793,583 (GRCm39)	E1228G	probably benign	Het
Ptpdc1	G	T	13: 48,751,390 (GRCm39)	H37N	probably benign	Het
Rab31	A	T	17: 66,003,269 (GRCm39)	I126N	possibly damaging	Het
Rsad2	A	T	12: 26,506,405 (GRCm39)	V5E	probably benign	Het
S1pr3	G	A	13: 51,573,173 (GRCm39)	S118N	probably damaging	Het
Sbsn	T	A	7: 30,451,366 (GRCm39)	I127N	possibly damaging	Het
Scart2	C	T	7: 139,876,231 (GRCm39)	Q568*	probably null	Het
Selenoh	G	T	2: 84,500,691 (GRCm39)	Q50K	probably damaging	Het
Simc1	GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	13: 54,673,177 (GRCm39)		probably benign	Het
Stkld1	A	T	2: 26,841,515 (GRCm39)	I487L	probably benign	Het
Tep1	T	A	14: 51,085,162 (GRCm39)	I874F	possibly damaging	Het
Tmem43	T	C	6: 91,455,746 (GRCm39)	V119A	possibly damaging	Het
Vmn2r80	T	A	10: 79,007,550 (GRCm39)	W509R	probably damaging	Het
Xpr1	A	C	1: 155,189,001 (GRCm39)	Y290*	probably null	Het
Zfp160	T	C	17: 21,246,313 (GRCm39)	C288R	probably damaging	Het
Zfp955a	C	T	17: 33,463,087 (GRCm39)	V15M	probably damaging	Het

Other mutations in Klri2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Klri2	APN	6	129,710,034 (GRCm39)	missense	probably damaging	1.00
R0137:Klri2	UTSW	6	129,709,171 (GRCm39)	missense	possibly damaging	0.95
R0371:Klri2	UTSW	6	129,709,106 (GRCm39)	makesense	probably null
R0396:Klri2	UTSW	6	129,717,251 (GRCm39)	missense	possibly damaging	0.77
R0671:Klri2	UTSW	6	129,717,171 (GRCm39)	missense	probably benign
R0903:Klri2	UTSW	6	129,710,739 (GRCm39)	missense	possibly damaging	0.46
R1353:Klri2	UTSW	6	129,716,049 (GRCm39)	missense	probably damaging	1.00
R1557:Klri2	UTSW	6	129,709,174 (GRCm39)	missense	probably damaging	0.99
R1642:Klri2	UTSW	6	129,715,837 (GRCm39)	missense	probably benign	0.00
R2221:Klri2	UTSW	6	129,717,272 (GRCm39)	missense	probably damaging	0.99
R6044:Klri2	UTSW	6	129,717,247 (GRCm39)	missense	probably damaging	0.98
R6236:Klri2	UTSW	6	129,715,858 (GRCm39)	missense	probably benign
R6582:Klri2	UTSW	6	129,716,096 (GRCm39)	missense	possibly damaging	0.65
R6640:Klri2	UTSW	6	129,709,158 (GRCm39)	missense	probably benign	0.01
R6883:Klri2	UTSW	6	129,709,985 (GRCm39)	missense	probably benign
R8947:Klri2	UTSW	6	129,710,742 (GRCm39)	critical splice acceptor site	probably null
R9268:Klri2	UTSW	6	129,710,037 (GRCm39)	missense	probably damaging	1.00
RF009:Klri2	UTSW	6	129,710,737 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTCCAGAGCATTCAGTCTGTC -3'
(R):5'- ACCTTTCATCAACCTGGGCAC -3'

Sequencing Primer
(F):5'- CCAGAGCATTCAGTCTGTCAAATTC -3'
(R):5'- GGCACCAGCAAAGGCACTTATG -3'

Posted On

2020-09-02