Mutagenetix > Incidental Mutation

Incidental Mutation 'R7519:Klrb1'

582559

Institutional Source

Beutler Lab

Gene Symbol

Klrb1

Ensembl Gene

ENSMUSG00000079299

Gene Name

killer cell lectin-like receptor subfamily B member 1

Synonyms

Nkrp1g, Gm4696, Ly55, Ly-55, 4930431A04Rik

MMRRC Submission

045591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128682799-128700022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128689252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 73 (V73E)

Ref Sequence

ENSEMBL: ENSMUSP00000107738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112110]

AlphaFold

Q0ZUP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000112110
AA Change: V73E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107738
Gene: ENSMUSG00000079299
AA Change: V73E

Domain	Start	End	E-Value	Type
transmembrane domain	39	61	N/A	INTRINSIC
CLECT	91	208	8.55e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

MGI Phenotype

PHENOTYPE: This locus encodes a NK cell specific antigen. Four RFLP patterns differing among inbred strains have been identified in reference J:12581. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,274,155 (GRCm39)	R132K		Het
Acaca	T	C	11: 84,136,682 (GRCm39)	S571P	probably damaging	Het
Adamts20	T	G	15: 94,223,869 (GRCm39)	K1286N	possibly damaging	Het
Adamts7	A	G	9: 90,079,132 (GRCm39)	D1477G	probably benign	Het
Alox12b	C	T	11: 69,054,039 (GRCm39)	T207I	probably benign	Het
Arid1b	GGGCGGCGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	17: 5,046,119 (GRCm39)		probably benign	Het
Arid1b	CGGCGG	CGGCGGTGGCGG	17: 5,046,128 (GRCm39)		probably benign	Het
Aspm	T	A	1: 139,418,074 (GRCm39)	N2934K	possibly damaging	Het
Axin2	T	G	11: 108,833,072 (GRCm39)	V419G	probably benign	Het
B4galnt4	A	G	7: 140,644,257 (GRCm39)	T108A	probably damaging	Het
Cacna1s	G	A	1: 135,998,494 (GRCm39)	R174Q	probably damaging	Het
Cdh18	G	T	15: 23,474,298 (GRCm39)	A723S	possibly damaging	Het
Ces4a	T	C	8: 105,871,851 (GRCm39)	M307T	probably damaging	Het
Cobl	T	A	11: 12,203,124 (GRCm39)	I1193F	probably damaging	Het
Crb2	G	T	2: 37,683,332 (GRCm39)	G945W	probably damaging	Het
Ctnna1	T	G	18: 35,307,424 (GRCm39)	I140M	probably benign	Het
Dnah5	T	C	15: 28,390,629 (GRCm39)	S3213P	probably damaging	Het
Fbln7	A	G	2: 128,735,785 (GRCm39)	S258G	probably benign	Het
Fbxo15	T	G	18: 84,982,359 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,785,724 (GRCm39)	Y387C	probably damaging	Het
Flt3l	G	A	7: 44,783,269 (GRCm39)	T176I	unknown	Het
Galk2	G	A	2: 125,825,172 (GRCm39)	R456H	possibly damaging	Het
Gm10840	T	C	11: 106,051,716 (GRCm39)	L14P	unknown	Het
Gm5591	T	C	7: 38,220,094 (GRCm39)	T260A	possibly damaging	Het
Gm6370	T	A	5: 146,430,638 (GRCm39)	D274E	probably damaging	Het
Grhl2	T	A	15: 37,336,556 (GRCm39)	D484E	probably damaging	Het
Hbp1	A	T	12: 31,983,374 (GRCm39)	V360D	probably damaging	Het
Heatr5b	G	T	17: 79,062,646 (GRCm39)	Q1968K	probably benign	Het
Igsf8	C	T	1: 172,143,874 (GRCm39)	T72M	probably benign	Het
Kera	A	T	10: 97,444,884 (GRCm39)	N81I	probably damaging	Het
Klhl14	C	T	18: 21,784,900 (GRCm39)	V176I	probably benign	Het
Krtap31-2	T	C	11: 99,827,501 (GRCm39)	L111P	possibly damaging	Het
Mbtd1	T	C	11: 93,799,725 (GRCm39)	S106P	probably damaging	Het
Nckap5l	T	C	15: 99,324,128 (GRCm39)	T792A	probably benign	Het
Ndufaf4	A	C	4: 24,901,847 (GRCm39)	T132P	probably damaging	Het
Neo1	A	G	9: 58,785,348 (GRCm39)	V1453A	probably benign	Het
Or5w13	T	C	2: 87,523,753 (GRCm39)	I158V	probably benign	Het
Or6c76	A	C	10: 129,612,091 (GRCm39)	I103L	probably benign	Het
Pcdha11	T	A	18: 37,139,319 (GRCm39)	L316*	probably null	Het
Pcdha7	T	C	18: 37,109,285 (GRCm39)	M770T	possibly damaging	Het
Pcsk1	T	C	13: 75,258,984 (GRCm39)	S253P	probably damaging	Het
Phtf1	T	C	3: 103,876,435 (GRCm39)	Y12H	probably damaging	Het
Pkd1l2	T	C	8: 117,792,268 (GRCm39)	N508S	probably benign	Het
Pla1a	A	G	16: 38,235,208 (GRCm39)	I162T	possibly damaging	Het
Rb1	A	T	14: 73,502,048 (GRCm39)	L446M	probably damaging	Het
Retn	A	T	8: 3,706,079 (GRCm39)	S22C	probably damaging	Het
Snx25	A	G	8: 46,569,309 (GRCm39)	L196P	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spata31d1b	G	A	13: 59,864,726 (GRCm39)	D625N	probably benign	Het
Sycp2	T	C	2: 177,988,126 (GRCm39)	*1501W	probably null	Het
Tarbp1	T	G	8: 127,160,639 (GRCm39)	T1271P	possibly damaging	Het
Uba1y	T	C	Y: 821,567 (GRCm39)	F154L	probably benign	Het
Ubr1	T	A	2: 120,705,925 (GRCm39)	I1513F	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,524 (GRCm39)	Q132L	probably benign	Het
Vwf	A	T	6: 125,644,506 (GRCm39)	T2454S		Het
Wdr33	C	A	18: 32,029,823 (GRCm39)	F1007L	unknown	Het
Zfp398	A	G	6: 47,836,407 (GRCm39)	H201R	probably benign	Het

Other mutations in Klrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01606:Klrb1	APN	6	128,699,968 (GRCm39)	missense	probably benign	0.01
IGL01880:Klrb1	APN	6	128,689,282 (GRCm39)	missense	possibly damaging	0.91
IGL02064:Klrb1	APN	6	128,687,600 (GRCm39)	missense	probably benign	0.01
IGL02708:Klrb1	APN	6	128,690,548 (GRCm39)	missense	probably benign	0.12
R0402:Klrb1	UTSW	6	128,687,583 (GRCm39)	missense	probably benign	0.06
R0842:Klrb1	UTSW	6	128,687,008 (GRCm39)	critical splice donor site	probably null
R1954:Klrb1	UTSW	6	128,700,036 (GRCm39)	splice site	probably null
R2267:Klrb1	UTSW	6	128,699,937 (GRCm39)	missense	probably damaging	1.00
R4191:Klrb1	UTSW	6	128,690,597 (GRCm39)	nonsense	probably null
R5518:Klrb1	UTSW	6	128,683,488 (GRCm39)	missense	probably benign	0.34
R5524:Klrb1	UTSW	6	128,689,296 (GRCm39)	critical splice acceptor site	probably null
R6967:Klrb1	UTSW	6	128,687,486 (GRCm39)	critical splice donor site	probably null
R7670:Klrb1	UTSW	6	128,687,050 (GRCm39)	missense	probably benign	0.00
R8297:Klrb1	UTSW	6	128,689,222 (GRCm39)	missense	possibly damaging	0.57
R8322:Klrb1	UTSW	6	128,690,576 (GRCm39)	missense	probably damaging	1.00
R8681:Klrb1	UTSW	6	128,687,012 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- TGTCAAGGTCACTCAGCTCC -3'
(R):5'- GTCACCAAACTTGTCCCTTAATCTG -3'

Sequencing Primer
(F):5'- GCTCCAGTTAGTTCTGAGAATCAGC -3'
(R):5'- TCCCAGCATTTGAGTAGCAG -3'

Posted On

2019-10-17