Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02545:Klrb1b'

297783

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klrb1b

Ensembl Gene

ENSMUSG00000079298

Gene Name

killer cell lectin-like receptor subfamily B member 1B

Synonyms

NKR-P1B, Nkrp1d, Ly55b, Klrb1d, Ly55d, Nkrp1-b, NKR-P1D

Accession Numbers

Essential gene?

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

Stock #

IGL02545

Quality Score

Status

Chromosome

Chromosomal Location

128790669-128803278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128797272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 72 (Q72R)

Ref Sequence

ENSEMBL: ENSMUSP00000134637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032472] [ENSMUST00000172887] [ENSMUST00000174544] [ENSMUST00000204394] [ENSMUST00000204423] [ENSMUST00000204677] [ENSMUST00000204756] [ENSMUST00000205130]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032472
AA Change: Q72R

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032472
Gene: ENSMUSG00000079298
AA Change: Q72R

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	94	211	2.04e-25	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172887
AA Change: Q72R

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134637
Gene: ENSMUSG00000079298
AA Change: Q72R

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
PDB:3M9Z\|A	89	138	1e-25	PDB
SCOP:d1e87a_	94	137	2e-10	SMART
Blast:CLECT	94	138	2e-25	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000174544
AA Change: Q39R

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134022
Gene: ENSMUSG00000079298
AA Change: Q39R

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
PDB:3M9Z\|A	56	97	8e-21	PDB
Blast:CLECT	61	97	1e-20	BLAST
SCOP:d1e87a_	61	97	8e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204394
AA Change: Q72R

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872
AA Change: Q72R

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	94	211	8.5e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204423
AA Change: Q72R

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872
AA Change: Q72R

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	94	211	8.7e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204677
AA Change: Q72R

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872
AA Change: Q72R

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
PDB:3M9Z\|A	89	144	2e-30	PDB
SCOP:d1e87a_	94	143	2e-12	SMART
Blast:CLECT	94	144	3e-30	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000204756
AA Change: Q63R

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872
AA Change: Q63R

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
CLECT	85	185	1e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205130
AA Change: Q72R

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144964
Gene: ENSMUSG00000079298
AA Change: Q72R

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	75	187	1.5e-18	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal NK cell phsyiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,994 (GRCm39)	L88P	probably damaging	Het
Adamtsl4	G	A	3: 95,590,684 (GRCm39)	Q354*	probably null	Het
Aox3	A	C	1: 58,222,645 (GRCm39)	D1146A	probably damaging	Het
Ap2a1	T	A	7: 44,555,850 (GRCm39)	H340L	probably damaging	Het
Ccni	G	T	5: 93,335,636 (GRCm39)	F167L	probably benign	Het
Ctcf	A	G	8: 106,391,013 (GRCm39)	T207A	probably benign	Het
D930020B18Rik	A	G	10: 121,525,838 (GRCm39)	H580R	possibly damaging	Het
Dnaaf6rt	A	G	1: 31,262,177 (GRCm39)	D53G	probably damaging	Het
Dock3	A	T	9: 106,939,271 (GRCm39)	L159Q	probably damaging	Het
Dync1i2	T	C	2: 71,093,095 (GRCm39)	I630T	possibly damaging	Het
Fchsd2	A	G	7: 100,847,715 (GRCm39)	T202A	probably benign	Het
Gdi2	A	G	13: 3,607,009 (GRCm39)	Y214C	probably damaging	Het
Gna14	T	A	19: 16,511,090 (GRCm39)	S46R	probably damaging	Het
Hfm1	A	G	5: 107,043,153 (GRCm39)	I627T	probably damaging	Het
Ighv1-19	G	A	12: 114,672,359 (GRCm39)	A87V	probably damaging	Het
Itch	G	A	2: 155,014,506 (GRCm39)		probably null	Het
Lrpprc	A	G	17: 85,082,853 (GRCm39)	F144L	probably benign	Het
Lrrc7	A	G	3: 157,891,011 (GRCm39)		probably benign	Het
Ndufa11	T	A	17: 57,028,338 (GRCm39)	F72L	probably damaging	Het
Neu1	T	A	17: 35,150,477 (GRCm39)	V32E	probably benign	Het
Or5k17	T	A	16: 58,746,833 (GRCm39)	I34F	possibly damaging	Het
Osmr	T	C	15: 6,853,060 (GRCm39)	K611E	probably damaging	Het
Pcdh20	A	G	14: 88,706,280 (GRCm39)	V340A	possibly damaging	Het
Plxna2	T	A	1: 194,468,998 (GRCm39)		probably benign	Het
Pou6f1	C	T	15: 100,481,306 (GRCm39)	W210*	probably null	Het
Ppat	A	G	5: 77,063,079 (GRCm39)	Y511H	probably damaging	Het
Psme4	T	G	11: 30,791,586 (GRCm39)	V1147G	possibly damaging	Het
Scap	C	T	9: 110,207,758 (GRCm39)	T489I	probably benign	Het
Sptb	A	G	12: 76,654,754 (GRCm39)		probably null	Het
Tcl1b5	T	A	12: 105,146,296 (GRCm39)		probably benign	Het
Trim54	T	A	5: 31,289,509 (GRCm39)		probably benign	Het
Unc13c	C	T	9: 73,388,357 (GRCm39)	R2143Q	probably damaging	Het
Vmn1r56	A	T	7: 5,199,113 (GRCm39)	V168D	probably benign	Het
Vmn2r66	A	T	7: 84,655,798 (GRCm39)	M406K	possibly damaging	Het

Other mutations in Klrb1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02810:Klrb1b	APN	6	128,795,430 (GRCm39)	splice site	probably null
IGL02815:Klrb1b	APN	6	128,797,937 (GRCm39)	missense	probably damaging	1.00
IGL03162:Klrb1b	APN	6	128,795,892 (GRCm39)	missense	probably null	0.99
IGL03276:Klrb1b	APN	6	128,792,168 (GRCm39)	missense	probably benign	0.21
R8957:Klrb1b	UTSW	6	128,795,522 (GRCm39)	missense	probably benign	0.11
R9235:Klrb1b	UTSW	6	128,795,547 (GRCm39)	missense	probably damaging	0.99
R9244:Klrb1b	UTSW	6	128,792,245 (GRCm39)	nonsense	probably null

Posted On

2015-04-16