Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00672:Klri2'

11682

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klri2

Ensembl Gene

ENSMUSG00000043932

Gene Name

killer cell lectin-like receptor family I member 2

Synonyms

A530090P03Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00672

Quality Score

Status

Chromosome

Chromosomal Location

129706004-129717447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129710034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 189 (I189F)

Ref Sequence

ENSEMBL: ENSMUSP00000052805 (fasta)

Gene Model

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

AlphaFold

Q5DT36

Predicted Effect

probably damaging
Transcript: ENSMUST00000050385
AA Change: I189F

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

SMART Domains

Protein: ENSMUSP00000052805
Gene: ENSMUSG00000043932
AA Change: I189F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,657,736 (GRCm39)		probably benign	Het
Adamts20	A	G	15: 94,238,986 (GRCm39)	I744T	probably damaging	Het
Akap11	G	A	14: 78,748,781 (GRCm39)	A1202V	probably damaging	Het
C130032M10Rik	A	G	9: 114,344,898 (GRCm39)	V340A	probably damaging	Het
Csnk1g1	G	T	9: 65,915,028 (GRCm39)	S229I	probably damaging	Het
E130308A19Rik	A	G	4: 59,719,697 (GRCm39)	S410G	probably benign	Het
Eif2s2	T	A	2: 154,729,629 (GRCm39)	I98L	probably benign	Het
En1	T	C	1: 120,534,667 (GRCm39)	F319L	unknown	Het
Fmnl3	A	T	15: 99,223,562 (GRCm39)	Y345N	probably damaging	Het
Fras1	T	C	5: 96,907,309 (GRCm39)		probably benign	Het
Gm12695	A	G	4: 96,637,419 (GRCm39)	L366P	probably damaging	Het
Golga3	T	C	5: 110,360,110 (GRCm39)	L1156S	probably damaging	Het
Gpcpd1	G	T	2: 132,372,468 (GRCm39)		probably benign	Het
Hvcn1	C	A	5: 122,376,534 (GRCm39)	F155L	probably benign	Het
Jcad	T	C	18: 4,674,835 (GRCm39)	S866P	possibly damaging	Het
Kdm4c	A	G	4: 74,261,751 (GRCm39)	N642S	probably benign	Het
Kif2c	T	C	4: 117,035,443 (GRCm39)	I2V	probably benign	Het
Lair1	T	A	7: 4,031,730 (GRCm39)	T126S	probably benign	Het
Lins1	A	T	7: 66,364,279 (GRCm39)	K725*	probably null	Het
Lman2l	T	A	1: 36,477,915 (GRCm39)		probably null	Het
Map3k10	T	C	7: 27,361,026 (GRCm39)	K496E	probably damaging	Het
Nr2f2	A	G	7: 70,007,514 (GRCm39)	S170P	possibly damaging	Het
Polr1b	G	A	2: 128,967,392 (GRCm39)	M928I	probably damaging	Het
Rffl	G	A	11: 82,709,310 (GRCm39)	P38S	probably damaging	Het
Rtl1	T	C	12: 109,559,434 (GRCm39)	S802G	probably benign	Het
Sema5a	A	G	15: 32,619,026 (GRCm39)	E518G	probably benign	Het
Smdt1	G	A	15: 82,230,384 (GRCm39)	V34I	possibly damaging	Het
Ssr3	C	A	3: 65,298,831 (GRCm39)	A59S	probably benign	Het
Stk4	A	G	2: 163,959,999 (GRCm39)	K59E	probably benign	Het
Syne2	C	T	12: 76,110,958 (GRCm39)	T1024M	probably damaging	Het
Taf5	A	T	19: 47,070,740 (GRCm39)	D723V	probably damaging	Het
Tescl	T	C	7: 24,033,035 (GRCm39)	T97A	probably benign	Het
Thada	A	T	17: 84,751,646 (GRCm39)	S443R	probably benign	Het
Trp53bp2	A	T	1: 182,268,541 (GRCm39)	H205L	probably benign	Het
Ube4b	A	G	4: 149,465,823 (GRCm39)	V209A	probably benign	Het
Zfp957	G	T	14: 79,450,838 (GRCm39)	D320E	unknown	Het
Zfr2	T	C	10: 81,077,919 (GRCm39)	S249P	probably damaging	Het
Zmpste24	A	G	4: 120,923,057 (GRCm39)	I386T	probably damaging	Het

Other mutations in Klri2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06