Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03120:Klra2'

409948

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klra2

Ensembl Gene

ENSMUSG00000030187

Gene Name

killer cell lectin-like receptor, subfamily A, member 2

Synonyms

Ly49b

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL03120

Quality Score

Status

Chromosome

Chromosomal Location

131219223-131247362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131220217 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 273 (Y273F)

Ref Sequence

ENSEMBL: ENSMUSP00000086252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032306] [ENSMUST00000088867]

Predicted Effect

probably benign
Transcript: ENSMUST00000032306
AA Change: Y240F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000032306
Gene: ENSMUSG00000030187
AA Change: Y240F

Domain	Start	End	E-Value	Type
CLECT	137	260	1.17e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088867
AA Change: Y273F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000086252
Gene: ENSMUSG00000030187
AA Change: Y273F

Domain	Start	End	E-Value	Type
CLECT	137	293	6.54e-6	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The gene is a member of the large lectin-like type 2 transmembrane receptor family of the natural killer gene complex. The gene is located distantly telomeric to its family's gene cluster on chromosome 6. The gene differs from the other genes in its cluster as its promoter region contains long and short interspersed repetitive elements suggesting a possible rearrangement or gene conversion. It is unknown whether this gene's encoded protein is involved with natural killer cell differentiation as are its other family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	A	G	9: 122,949,053	L42P	probably benign	Het
4932415D10Rik	A	G	10: 82,285,035	V77A	possibly damaging	Het
Cacna1e	T	C	1: 154,443,881	I1420V	probably damaging	Het
Corin	T	C	5: 72,360,689	Y263C	probably damaging	Het
Cyp4f15	A	T	17: 32,690,764	I112F	probably damaging	Het
Dach1	T	C	14: 97,827,789	E724G	probably damaging	Het
Dip2b	T	C	15: 100,203,127		probably benign	Het
Dnah2	T	A	11: 69,421,848	E4297V	probably damaging	Het
Dot1l	A	G	10: 80,786,273		probably benign	Het
Endod1	C	A	9: 14,357,035	V385F	probably damaging	Het
Etnppl	A	G	3: 130,620,692	T73A	probably damaging	Het
Frmd4b	T	A	6: 97,396,245	D104V	possibly damaging	Het
Gm884	T	C	11: 103,616,975		probably benign	Het
Gp5	T	C	16: 30,308,198	I553V	possibly damaging	Het
Gpc5	A	G	14: 115,370,144	E386G	possibly damaging	Het
Hbb-bs	A	G	7: 103,827,778		probably benign	Het
Msto1	A	T	3: 88,910,809	V366E	probably damaging	Het
Mtcl1	A	G	17: 66,379,383	S843P	probably damaging	Het
Nhsl2	A	G	X: 102,071,333	N97S	probably benign	Het
Npm2	C	A	14: 70,652,599		probably benign	Het
Npr2	C	T	4: 43,643,133	R506C	probably damaging	Het
Olfr661	A	T	7: 104,688,402	Y129F	probably benign	Het
Olr1	T	C	6: 129,488,935	E36G	probably damaging	Het
Pcdhb19	A	G	18: 37,498,156	I335V	probably benign	Het
Pla2g6	T	C	15: 79,286,860	D772G	probably damaging	Het
Ppfibp1	C	A	6: 146,998,169	D119E	probably benign	Het
Prdm9	T	C	17: 15,544,931	N529S	probably benign	Het
Rnf20	T	A	4: 49,649,955		probably benign	Het
Tmem132c	T	A	5: 127,563,384	V873E	probably benign	Het
Tmem2	G	A	19: 21,823,843	D775N	possibly damaging	Het
Ttn	T	C	2: 76,927,084		probably null	Het
Vmn2r54	A	G	7: 12,615,387	I756T	probably damaging	Het

Other mutations in Klra2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02271:Klra2	APN	6	131230217	missense	probably benign	0.11
IGL02280:Klra2	APN	6	131245293	missense	probably damaging	1.00
IGL02503:Klra2	APN	6	131230094	missense	probably benign	0.10
FR4449:Klra2	UTSW	6	131221846	frame shift	probably null
FR4548:Klra2	UTSW	6	131221851	frame shift	probably null
FR4737:Klra2	UTSW	6	131221852	frame shift	probably null
R0082:Klra2	UTSW	6	131220247	missense	possibly damaging	0.90
R0597:Klra2	UTSW	6	131220185	missense	probably benign	0.00
R0606:Klra2	UTSW	6	131220224	missense	probably damaging	1.00
R0636:Klra2	UTSW	6	131220104	splice site	probably benign
R0800:Klra2	UTSW	6	131230174	nonsense	probably null
R1645:Klra2	UTSW	6	131243894	critical splice donor site	probably null
R1655:Klra2	UTSW	6	131220211	missense	probably damaging	0.96
R1950:Klra2	UTSW	6	131230115	missense	probably benign	0.02
R2088:Klra2	UTSW	6	131242826	missense	probably damaging	0.99
R2402:Klra2	UTSW	6	131243901	missense	probably benign	0.01
R3776:Klra2	UTSW	6	131242963	missense	probably benign	0.06
R4131:Klra2	UTSW	6	131228217	missense	probably benign	0.03
R4570:Klra2	UTSW	6	131243937	missense	probably damaging	1.00
R4585:Klra2	UTSW	6	131230157	missense	probably benign	0.11
R4586:Klra2	UTSW	6	131230157	missense	probably benign	0.11
R4884:Klra2	UTSW	6	131230202	missense	probably damaging	1.00
R4982:Klra2	UTSW	6	131220189	missense	probably benign	0.25
R5043:Klra2	UTSW	6	131220172	missense	probably benign	0.06
R5457:Klra2	UTSW	6	131221889	missense	possibly damaging	0.92
R6526:Klra2	UTSW	6	131221876	missense	probably benign	0.21
R6538:Klra2	UTSW	6	131242990	missense	probably damaging	0.99
R7393:Klra2	UTSW	6	131230202	missense	probably damaging	1.00
R7785:Klra2	UTSW	6	131245290	missense	possibly damaging	0.95
RF020:Klra2	UTSW	6	131221838	frame shift	probably null
RF059:Klra2	UTSW	6	131221838	frame shift	probably null
RF064:Klra2	UTSW	6	131221839	frame shift	probably null
Z1088:Klra2	UTSW	6	131228290	missense	probably damaging	1.00

Posted On

2016-08-02