Mutagenetix > Incidental Mutations

Incidental Mutation 'R4982:Klra2'

384911

Institutional Source

Beutler Lab

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: 0.062) question?

Stock #

R4982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131219223-131247362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131220189 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 282 (D282E)

Ref Sequence

ENSEMBL: ENSMUSP00000086252 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000032306
AA Change: D249E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000032306
Gene: ENSMUSG00000030187
AA Change: D249E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000088867
AA Change: D282E

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000086252
Gene: ENSMUSG00000030187
AA Change: D282E

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,292,348	I1404L	possibly damaging	Het
Adra1b	A	G	11: 43,835,230	S287P	probably damaging	Het
Atxn2	G	T	5: 121,814,343	A1280S	possibly damaging	Het
Bbip1	T	C	19: 53,932,208		probably null	Het
Bbs2	A	G	8: 94,082,354		probably null	Het
Bcl11b	A	T	12: 107,965,772	C180*	probably null	Het
Bod1l	A	G	5: 41,820,473	V1166A	probably benign	Het
Bora	C	T	14: 99,047,352	P13S	probably damaging	Het
C2cd4c	T	C	10: 79,613,241	E24G	probably benign	Het
Ccne1	A	T	7: 38,100,571	I196N	probably damaging	Het
Chsy3	C	T	18: 59,409,575	S595L	probably benign	Het
Chsy3	T	A	18: 59,409,767	I659N	possibly damaging	Het
Cntrob	T	A	11: 69,311,362		probably null	Het
Col5a2	G	A	1: 45,389,458	P983S	possibly damaging	Het
Crat	T	A	2: 30,407,136		probably null	Het
Ctnnbl1	C	T	2: 157,836,553	H359Y	probably benign	Het
D430041D05Rik	A	G	2: 104,255,387	V83A	possibly damaging	Het
Dixdc1	A	G	9: 50,682,602	S488P	possibly damaging	Het
Dmrta1	T	C	4: 89,688,564	C86R	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Fam171a1	G	A	2: 3,178,468		probably null	Het
Fam222b	T	C	11: 78,154,743	C249R	probably damaging	Het
Fbxw18	T	A	9: 109,702,651		probably benign	Het
Fes	T	C	7: 80,387,204	Y44C	probably damaging	Het
Gimap6	A	G	6: 48,707,999	V51A	probably benign	Het
Gpr75	C	A	11: 30,891,462	H122Q	probably damaging	Het
Gpr75	C	T	11: 30,891,463	L123F	possibly damaging	Het
Greb1	A	G	12: 16,724,761	S212P	probably damaging	Het
Grin3a	T	C	4: 49,665,512	H1041R	probably benign	Het
Ifna5	A	G	4: 88,835,624	N34D	probably damaging	Het
Ift140	A	T	17: 25,036,994	H221L	probably damaging	Het
Igsf3	T	C	3: 101,435,667	V540A	probably benign	Het
Il10ra	A	G	9: 45,269,059	L5S	probably damaging	Het
Lyst	T	A	13: 13,725,954	H3138Q	probably damaging	Het
Malrd1	A	G	2: 16,042,129	T1689A	probably benign	Het
Mon2	A	T	10: 122,995,789	L1671M	probably damaging	Het
Mpped1	T	C	15: 83,836,327	F71S	probably damaging	Het
Mtpap	C	A	18: 4,396,332	H541Q	probably benign	Het
Muc5ac	T	A	7: 141,809,456		probably benign	Het
Mybbp1a	T	C	11: 72,445,214	I451T	probably damaging	Het
Myh7	T	A	14: 54,972,767	E1827V	probably damaging	Het
Olfr132	A	T	17: 38,130,577	I205N	probably damaging	Het
Olfr145	C	A	9: 37,897,515	T37N	probably damaging	Het
Olfr342	A	T	2: 36,527,397		probably null	Het
Olfr501-ps1	T	A	7: 108,508,648	Y197*	probably null	Het
Os9	C	T	10: 127,121,051	R23H	possibly damaging	Het
Otud6b	A	G	4: 14,815,607	L261P	probably damaging	Het
Pcdhga2	A	G	18: 37,669,423	N107D	probably benign	Het
Pclo	C	T	5: 14,679,294		probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phtf1	T	A	3: 103,998,708	S524T	probably damaging	Het
Pkdrej	A	C	15: 85,818,996	L913R	probably damaging	Het
Pld1	C	A	3: 28,031,298	A201D	probably damaging	Het
Rorb	T	A	19: 18,977,688	Q103L	probably benign	Het
Sec24d	C	T	3: 123,299,606	T284M	probably benign	Het
Serpinb3b	T	C	1: 107,157,754	I86V	probably benign	Het
Serpinb6a	A	T	13: 33,918,874	M201K	probably damaging	Het
Snx8	A	G	5: 140,352,234	S219P	probably benign	Het
Sp8	C	T	12: 118,848,425	T5I	probably damaging	Het
Tanc1	A	G	2: 59,799,943	N749D	probably damaging	Het
Tarm1	G	C	7: 3,489,096	P284A	probably damaging	Het
Tbx15	A	T	3: 99,254,074	E65V	probably benign	Het
Ticam1	T	A	17: 56,272,020	H25L	probably benign	Het
Tmprss11g	T	A	5: 86,492,815	L170F	probably damaging	Het
Tnfsf9	A	G	17: 57,107,504	*310W	probably null	Het
Tsks	C	T	7: 44,943,994	T128I	possibly damaging	Het
Uhrf1bp1	T	C	17: 27,886,606	F702S	probably benign	Het
Vmn1r175	A	T	7: 23,809,069	N44K	possibly damaging	Het
Vmn1r45	A	G	6: 89,933,865	I41T	probably damaging	Het
Ythdc2	A	G	18: 44,871,465	N1102S	probably benign	Het
Zswim4	C	T	8: 84,226,667		probably null	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
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
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'- GCAGATTGAGTTCTGTGAATGAATG -3'
(R):5'- AGAAGATCCCTGTGTGCCAC -3'

Sequencing Primer
(F):5'- GAATGATTCAGCTGTTAGGTAGTCAC -3'
(R):5'- AGCCATGTCATTGGTCCAAG -3'

Posted On

2016-05-10