Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131219223-131247362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131220211 bp

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]

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
4833427G06Rik	A	T	9: 51,083,621	I136N	probably damaging	Het
9530053A07Rik	A	T	7: 28,147,110	N1076Y	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,333		probably benign	Het
Abca1	C	T	4: 53,050,964	A1582T	probably benign	Het
Acot8	A	T	2: 164,803,108	S52T	probably benign	Het
Atcay	C	T	10: 81,213,397	V124M	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cfap46	A	T	7: 139,642,520	Y1180*	probably null	Het
Clptm1	T	A	7: 19,645,867	H148L	probably benign	Het
Clstn3	A	G	6: 124,437,427	L743P	probably damaging	Het
Crtc3	A	T	7: 80,598,776	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,373,689	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,196,340	T19K	unknown	Het
Disp1	A	T	1: 183,087,004	I1284N	probably benign	Het
Dnah2	A	G	11: 69,473,854	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,205,732	V205I	possibly damaging	Het
Dst	G	T	1: 34,282,576	G4391*	probably null	Het
Dytn	A	G	1: 63,661,198	S258P	probably damaging	Het
Emilin3	T	A	2: 160,910,866		probably null	Het
Ermn	C	T	2: 58,052,584	V45I	probably benign	Het
Fat4	T	C	3: 38,957,318	V2189A	probably damaging	Het
Filip1l	T	C	16: 57,571,851	I934T	probably damaging	Het
Gbp9	T	A	5: 105,081,692	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,753,176	E227*	probably null	Het
Gsdmc	C	T	15: 63,780,043	V240M	probably benign	Het
H2-Q4	G	T	17: 35,382,905	V248F	probably damaging	Het
Helz2	T	C	2: 181,234,147	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,630,333	V3814A	probably benign	Het
Ifna7	A	G	4: 88,816,660	T145A	probably benign	Het
Itgam	T	A	7: 128,115,163	M947K	probably benign	Het
Itpr2	T	G	6: 146,376,148	N608H	probably damaging	Het
Lonrf2	A	T	1: 38,811,824	L219Q	probably damaging	Het
Ly6c2	T	C	15: 75,108,563	I126V	probably benign	Het
Mr1	G	A	1: 155,132,455	T258M	probably benign	Het
Mrps35	T	G	6: 147,060,228	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,632,872	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,698,245		probably null	Het
Nlrp4a	A	T	7: 26,449,651	I228F	possibly damaging	Het
Olfr1047	A	G	2: 86,228,080	V297A	possibly damaging	Het
Olfr1339	A	G	4: 118,734,999	S157G	probably benign	Het
Olfr368	A	G	2: 37,331,939	Y64C	probably damaging	Het
Olfr483	A	T	7: 108,103,464	I52F	probably damaging	Het
Paxx	T	C	2: 25,460,316	E93G	probably damaging	Het
Per2	C	A	1: 91,448,768	G128W	probably damaging	Het
Piezo1	A	G	8: 122,496,822	I796T	probably benign	Het
Pkhd1	A	G	1: 20,584,129	S235P	probably damaging	Het
Pole	T	A	5: 110,335,922	F259Y	probably damaging	Het
Pus7	T	A	5: 23,747,800	K512*	probably null	Het
Ralyl	A	T	3: 14,107,236	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,383,534	M451K	probably benign	Het
Rhag	T	C	17: 40,831,596	F231L	probably damaging	Het
Ric8a	T	C	7: 140,860,895	C94R	probably benign	Het
Rictor	T	A	15: 6,772,212	D460E	probably benign	Het
Rpn1	T	C	6: 88,100,944	V454A	possibly damaging	Het
Sacs	A	G	14: 61,191,782	D427G	probably benign	Het
Scai	A	T	2: 39,080,117	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 107,046,212	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,257,378	C277F	probably benign	Het
Slc15a1	A	T	14: 121,465,899	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,069,419	V628A	probably benign	Het
Slc8a2	G	T	7: 16,141,135	G436V	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Supt5	T	C	7: 28,330,024	I103V	probably benign	Het
Tdrd1	T	A	19: 56,843,216	Y346*	probably null	Het
Tg	T	G	15: 66,828,568		probably null	Het
Top1	T	A	2: 160,703,696		probably null	Het
Trmt12	T	C	15: 58,873,227	L158P	probably damaging	Het
Tssk4	A	G	14: 55,651,695	N226S	probably damaging	Het
Unc80	G	T	1: 66,672,756	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,375,051	V999E	probably benign	Het
Virma	T	C	4: 11,494,786	V29A	probably damaging	Het
Zfp40	A	T	17: 23,177,266	Y48N	probably benign	Het
Zfp609	A	G	9: 65,703,554	V709A	possibly 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
IGL03120:Klra2	APN	6	131220217	missense	probably benign	0.00
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
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

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