Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Klra2'

189020

Institutional Source

Beutler Lab

Gene Symbol

Klra2

Ensembl Gene

ENSMUSG00000030187

Gene Name

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

Synonyms

Ly49b

MMRRC Submission

039691-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131196186-131224325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131197174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 242 (N242I)

Ref Sequence

ENSEMBL: ENSMUSP00000032306 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032306
AA Change: N242I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032306
Gene: ENSMUSG00000030187
AA Change: N242I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088867
AA Change: N275I

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000086252
Gene: ENSMUSG00000030187
AA Change: N275I

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	T	14: 55,797,790 (GRCm39)		probably benign	Het
Abca1	C	T	4: 53,050,964 (GRCm39)	A1582T	probably benign	Het
Acot8	A	T	2: 164,645,028 (GRCm39)	S52T	probably benign	Het
Atcay	C	T	10: 81,049,231 (GRCm39)	V124M	probably damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cfap46	A	T	7: 139,222,436 (GRCm39)	Y1180*	probably null	Het
Clptm1	T	A	7: 19,379,792 (GRCm39)	H148L	probably benign	Het
Clstn3	A	G	6: 124,414,386 (GRCm39)	L743P	probably damaging	Het
Crtc3	A	T	7: 80,248,524 (GRCm39)	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,826,341 (GRCm39)	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,080,543 (GRCm39)	T19K	unknown	Het
Disp1	A	T	1: 182,868,568 (GRCm39)	I1284N	probably benign	Het
Dnah2	A	G	11: 69,364,680 (GRCm39)	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,182,715 (GRCm39)	V205I	possibly damaging	Het
Dst	G	T	1: 34,321,657 (GRCm39)	G4391*	probably null	Het
Dytn	A	G	1: 63,700,357 (GRCm39)	S258P	probably damaging	Het
Emilin3	T	A	2: 160,752,786 (GRCm39)		probably null	Het
Ermn	C	T	2: 57,942,596 (GRCm39)	V45I	probably benign	Het
Fat4	T	C	3: 39,011,467 (GRCm39)	V2189A	probably damaging	Het
Fcgbpl1	A	T	7: 27,846,535 (GRCm39)	N1076Y	probably damaging	Het
Filip1l	T	C	16: 57,392,214 (GRCm39)	I934T	probably damaging	Het
Gbp9	T	A	5: 105,229,558 (GRCm39)	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,730,110 (GRCm39)	E227*	probably null	Het
Gsdmc	C	T	15: 63,651,892 (GRCm39)	V240M	probably benign	Het
H2-Q4	G	T	17: 35,601,881 (GRCm39)	V248F	probably damaging	Het
Helz2	T	C	2: 180,875,940 (GRCm39)	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,506,084 (GRCm39)	V3814A	probably benign	Het
Hoatz	A	T	9: 50,994,921 (GRCm39)	I136N	probably damaging	Het
Ifna7	A	G	4: 88,734,897 (GRCm39)	T145A	probably benign	Het
Itgam	T	A	7: 127,714,335 (GRCm39)	M947K	probably benign	Het
Itpr2	T	G	6: 146,277,646 (GRCm39)	N608H	probably damaging	Het
Lonrf2	A	T	1: 38,850,905 (GRCm39)	L219Q	probably damaging	Het
Ly6c2	T	C	15: 74,980,412 (GRCm39)	I126V	probably benign	Het
Mr1	G	A	1: 155,008,201 (GRCm39)	T258M	probably benign	Het
Mrps35	T	G	6: 146,961,726 (GRCm39)	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,461,940 (GRCm39)	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,574,241 (GRCm39)		probably null	Het
Nlrp4a	A	T	7: 26,149,076 (GRCm39)	I228F	possibly damaging	Het
Or13p5	A	G	4: 118,592,196 (GRCm39)	S157G	probably benign	Het
Or5c1	A	G	2: 37,221,951 (GRCm39)	Y64C	probably damaging	Het
Or5p59	A	T	7: 107,702,671 (GRCm39)	I52F	probably damaging	Het
Or8k3	A	G	2: 86,058,424 (GRCm39)	V297A	possibly damaging	Het
Paxx	T	C	2: 25,350,328 (GRCm39)	E93G	probably damaging	Het
Per2	C	A	1: 91,376,490 (GRCm39)	G128W	probably damaging	Het
Piezo1	A	G	8: 123,223,561 (GRCm39)	I796T	probably benign	Het
Pkhd1	A	G	1: 20,654,353 (GRCm39)	S235P	probably damaging	Het
Pole	T	A	5: 110,483,788 (GRCm39)	F259Y	probably damaging	Het
Pus7	T	A	5: 23,952,798 (GRCm39)	K512*	probably null	Het
Ralyl	A	T	3: 14,172,296 (GRCm39)	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,531,347 (GRCm39)	M451K	probably benign	Het
Rhag	T	C	17: 41,142,487 (GRCm39)	F231L	probably damaging	Het
Ric8a	T	C	7: 140,440,808 (GRCm39)	C94R	probably benign	Het
Rictor	T	A	15: 6,801,693 (GRCm39)	D460E	probably benign	Het
Rpn1	T	C	6: 88,077,926 (GRCm39)	V454A	possibly damaging	Het
Sacs	A	G	14: 61,429,231 (GRCm39)	D427G	probably benign	Het
Scai	A	T	2: 38,970,129 (GRCm39)	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 106,973,942 (GRCm39)	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,148,204 (GRCm39)	C277F	probably benign	Het
Slc15a1	A	T	14: 121,703,311 (GRCm39)	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,226,761 (GRCm39)	V628A	probably benign	Het
Slc8a2	G	T	7: 15,875,060 (GRCm39)	G436V	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Supt5	T	C	7: 28,029,449 (GRCm39)	I103V	probably benign	Het
Tdrd1	T	A	19: 56,831,648 (GRCm39)	Y346*	probably null	Het
Tg	T	G	15: 66,700,417 (GRCm39)		probably null	Het
Top1	T	A	2: 160,545,616 (GRCm39)		probably null	Het
Trmt12	T	C	15: 58,745,076 (GRCm39)	L158P	probably damaging	Het
Tssk4	A	G	14: 55,889,152 (GRCm39)	N226S	probably damaging	Het
Unc80	G	T	1: 66,711,915 (GRCm39)	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,325,051 (GRCm39)	V999E	probably benign	Het
Virma	T	C	4: 11,494,786 (GRCm39)	V29A	probably damaging	Het
Zfp40	A	T	17: 23,396,240 (GRCm39)	Y48N	probably benign	Het
Zfp609	A	G	9: 65,610,836 (GRCm39)	V709A	possibly damaging	Het

Other mutations in Klra2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02271:Klra2	APN	6	131,207,180 (GRCm39)	missense	probably benign	0.11
IGL02280:Klra2	APN	6	131,222,256 (GRCm39)	missense	probably damaging	1.00
IGL02503:Klra2	APN	6	131,207,057 (GRCm39)	missense	probably benign	0.10
IGL03120:Klra2	APN	6	131,197,180 (GRCm39)	missense	probably benign	0.00
FR4449:Klra2	UTSW	6	131,198,809 (GRCm39)	frame shift	probably null
FR4548:Klra2	UTSW	6	131,198,814 (GRCm39)	frame shift	probably null
FR4737:Klra2	UTSW	6	131,198,815 (GRCm39)	frame shift	probably null
R0082:Klra2	UTSW	6	131,197,210 (GRCm39)	missense	possibly damaging	0.90
R0597:Klra2	UTSW	6	131,197,148 (GRCm39)	missense	probably benign	0.00
R0606:Klra2	UTSW	6	131,197,187 (GRCm39)	missense	probably damaging	1.00
R0636:Klra2	UTSW	6	131,197,067 (GRCm39)	splice site	probably benign
R0800:Klra2	UTSW	6	131,207,137 (GRCm39)	nonsense	probably null
R1645:Klra2	UTSW	6	131,220,857 (GRCm39)	critical splice donor site	probably null
R1950:Klra2	UTSW	6	131,207,078 (GRCm39)	missense	probably benign	0.02
R2088:Klra2	UTSW	6	131,219,789 (GRCm39)	missense	probably damaging	0.99
R2402:Klra2	UTSW	6	131,220,864 (GRCm39)	missense	probably benign	0.01
R3776:Klra2	UTSW	6	131,219,926 (GRCm39)	missense	probably benign	0.06
R4131:Klra2	UTSW	6	131,205,180 (GRCm39)	missense	probably benign	0.03
R4570:Klra2	UTSW	6	131,220,900 (GRCm39)	missense	probably damaging	1.00
R4585:Klra2	UTSW	6	131,207,120 (GRCm39)	missense	probably benign	0.11
R4586:Klra2	UTSW	6	131,207,120 (GRCm39)	missense	probably benign	0.11
R4884:Klra2	UTSW	6	131,207,165 (GRCm39)	missense	probably damaging	1.00
R4982:Klra2	UTSW	6	131,197,152 (GRCm39)	missense	probably benign	0.25
R5043:Klra2	UTSW	6	131,197,135 (GRCm39)	missense	probably benign	0.06
R5457:Klra2	UTSW	6	131,198,852 (GRCm39)	missense	possibly damaging	0.92
R6526:Klra2	UTSW	6	131,198,839 (GRCm39)	missense	probably benign	0.21
R6538:Klra2	UTSW	6	131,219,953 (GRCm39)	missense	probably damaging	0.99
R7393:Klra2	UTSW	6	131,207,165 (GRCm39)	missense	probably damaging	1.00
R7785:Klra2	UTSW	6	131,222,253 (GRCm39)	missense	possibly damaging	0.95
R8394:Klra2	UTSW	6	131,222,273 (GRCm39)	missense	possibly damaging	0.94
R8809:Klra2	UTSW	6	131,197,198 (GRCm39)	missense	possibly damaging	0.55
R8924:Klra2	UTSW	6	131,205,214 (GRCm39)	missense	probably benign	0.02
R9467:Klra2	UTSW	6	131,197,070 (GRCm39)	critical splice donor site	probably null
R9667:Klra2	UTSW	6	131,219,836 (GRCm39)	missense	probably benign	0.32
R9779:Klra2	UTSW	6	131,198,801 (GRCm39)	missense	unknown
RF020:Klra2	UTSW	6	131,198,801 (GRCm39)	frame shift	probably null
RF059:Klra2	UTSW	6	131,198,801 (GRCm39)	frame shift	probably null
RF064:Klra2	UTSW	6	131,198,802 (GRCm39)	frame shift	probably null
Z1088:Klra2	UTSW	6	131,205,253 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCTGCTCTGTTAAGTCTGTTGTCAAA -3'
(R):5'- GTCACAGAAGATCCCTGTGTGCC -3'

Sequencing Primer
(F):5'- CAGAGCAGATTGAGTTCTGTGAATG -3'
(R):5'- tgtatgggcacatgtcacag -3'

Posted On

2014-05-09