Mutagenetix > Incidental Mutation

Incidental Mutation 'R6640:Klri2'

525719

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

044761-MU

Accession Numbers

Essential gene?

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

Stock #

R6640 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129706004-129717447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 129709158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 231 (F231L)

Ref Sequence

ENSEMBL: ENSMUSP00000052805 (fasta)

Gene Model

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

AlphaFold

Q5DT36

Predicted Effect

probably benign
Transcript: ENSMUST00000050385
AA Change: F231L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000052805
Gene: ENSMUSG00000043932
AA Change: F231L

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

97% (31/32)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,530,248 (GRCm39)	N936K	probably benign	Het
Abca2	A	T	2: 25,337,015 (GRCm39)	Y2318F	possibly damaging	Het
Aldh1b1	A	G	4: 45,803,868 (GRCm39)	T469A	possibly damaging	Het
Aoc1l1	A	G	6: 48,954,605 (GRCm39)	D581G	probably benign	Het
Ccdc136	A	G	6: 29,412,959 (GRCm39)	D382G	possibly damaging	Het
Dapk1	A	G	13: 60,864,628 (GRCm39)	K141E	probably damaging	Het
Dnah6	A	T	6: 73,001,276 (GRCm39)	W3973R	probably damaging	Het
Dock10	G	T	1: 80,511,555 (GRCm39)	S1518*	probably null	Het
Elovl5	C	A	9: 77,887,195 (GRCm39)	Y195*	probably null	Het
Fbxl21	T	A	13: 56,684,822 (GRCm39)	W309R	probably damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gpx1	A	G	9: 108,217,295 (GRCm39)	D133G	probably damaging	Het
Hoxd1	T	A	2: 74,593,606 (GRCm39)	V54E	probably damaging	Het
Kcnh3	T	C	15: 99,139,649 (GRCm39)	V876A	probably benign	Het
Mogat1	T	G	1: 78,500,411 (GRCm39)	S158R	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Or2ag13	T	A	7: 106,313,247 (GRCm39)	I214F	probably damaging	Het
Or8k16	T	A	2: 85,520,279 (GRCm39)	C169S	probably damaging	Het
Otog	G	A	7: 45,911,167 (GRCm39)	A673T	possibly damaging	Het
Pigm	T	C	1: 172,205,254 (GRCm39)	V330A	probably damaging	Het
Rab33b	A	G	3: 51,391,900 (GRCm39)	T50A	possibly damaging	Het
Raver2	C	T	4: 100,988,500 (GRCm39)	P371L	probably damaging	Het
Rpl15-ps6	G	T	15: 52,341,016 (GRCm39)		noncoding transcript	Het
Sh3rf2	T	A	18: 42,234,705 (GRCm39)	Y163N	probably damaging	Het
Slc1a1	T	C	19: 28,871,970 (GRCm39)		probably null	Het
Slc6a18	T	A	13: 73,812,401 (GRCm39)	Y563F	possibly damaging	Het
Sp3	A	G	2: 72,801,458 (GRCm39)	L185P	possibly damaging	Het
Thbs2	T	C	17: 14,893,630 (GRCm39)	D850G	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmtc2	T	A	10: 105,409,610 (GRCm39)	M1L	probably benign	Het
Trpm2	C	T	10: 77,773,660 (GRCm39)	R585Q	probably benign	Het
Trpm3	T	A	19: 22,955,946 (GRCm39)	I1126K	probably damaging	Het
Ugt1a6b	A	C	1: 88,035,516 (GRCm39)	T285P	probably benign	Het
Vps13b	A	G	15: 35,617,842 (GRCm39)	T1181A	possibly 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
R6883:Klri2	UTSW	6	129,709,985 (GRCm39)	missense	probably benign
R8330:Klri2	UTSW	6	129,710,694 (GRCm39)	missense	probably damaging	0.99
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'- CAGTTACTGGACATACATGGTATTG -3'
(R):5'- AAAGCTTATCGTCCACTCATAACTCTG -3'

Sequencing Primer
(F):5'- ATAAACAGCATCTTCTCAGTTCAG -3'
(R):5'- ATCGTCCACTCATAACTCTGTTTTC -3'

Posted On

2018-06-22