Mutagenetix > Incidental Mutation

Incidental Mutation 'R2886:Lilrb4a'

261056

Institutional Source

Beutler Lab

Gene Symbol

Lilrb4a

Ensembl Gene

ENSMUSG00000112148

Gene Name

leukocyte immunoglobulin-like receptor, subfamily B, member 4A

Synonyms

Gp49b, CD85K, ILT3, Lilrb4, HM18

MMRRC Submission

040474-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R2886 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51367052-51372707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51367709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 84 (N84Y)

Ref Sequence

ENSEMBL: ENSMUSP00000151827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078778] [ENSMUST00000102894] [ENSMUST00000217705] [ENSMUST00000217706] [ENSMUST00000218123] [ENSMUST00000219696] [ENSMUST00000220182] [ENSMUST00000218617] [ENSMUST00000219960] [ENSMUST00000220226]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000078778
AA Change: N84Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077833
Gene: ENSMUSG00000112148
AA Change: N84Y

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG_like	28	118	4.91e1	SMART
IG_like	129	219	1.84e1	SMART
transmembrane domain	239	261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102894

SMART Domains

Protein: ENSMUSP00000099958
Gene: ENSMUSG00000112023

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
SCOP:d1nkr_2	24	118	3e-14	SMART
Blast:IG_like	28	118	5e-49	BLAST
Pfam:Ig_3	123	200	6.5e-8	PFAM
Pfam:Ig_2	123	218	5.9e-8	PFAM
Pfam:ig	127	211	8.4e-9	PFAM
transmembrane domain	239	261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105481
AA Change: N84Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101121
Gene: ENSMUSG00000062593
AA Change: N84Y

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG_like	28	118	4.91e1	SMART
IG_like	129	219	1.84e1	SMART
transmembrane domain	239	261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105482
AA Change: N84Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101122
Gene: ENSMUSG00000062593
AA Change: N84Y

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG_like	28	118	4.91e1	SMART
IG_like	129	219	1.84e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000217705

Predicted Effect

probably benign
Transcript: ENSMUST00000217706
AA Change: N84Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000218123
AA Change: N84Y

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000219696
AA Change: N84Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000220182
AA Change: N84Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220166

Predicted Effect

probably benign
Transcript: ENSMUST00000218617

Predicted Effect

probably benign
Transcript: ENSMUST00000219960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220402

Predicted Effect

probably benign
Transcript: ENSMUST00000220226

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (38/38)

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased sensitivity to IgE-dependent passive cutaneous anaphylaxis and a reduced threshold for antigen challenge in active cutaneous anaphylaxis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,035,712 (GRCm39)		probably benign	Het
Bicdl2	G	A	17: 23,885,732 (GRCm39)		probably null	Het
Cables1	A	G	18: 12,072,789 (GRCm39)	D448G	possibly damaging	Het
Casq2	A	T	3: 102,051,534 (GRCm39)	N338I	probably damaging	Het
Ccr1l1	T	C	9: 123,777,553 (GRCm39)	N298S	probably damaging	Het
Dnajc17	A	G	2: 119,009,933 (GRCm39)	V231A	probably benign	Het
Ell2	T	C	13: 75,911,904 (GRCm39)	S397P	probably damaging	Het
Gm9966	T	C	7: 95,607,753 (GRCm39)	C25R	unknown	Het
H2-DMa	A	G	17: 34,356,121 (GRCm39)	N41S	probably damaging	Het
Helz2	A	G	2: 180,882,535 (GRCm39)	M86T	probably benign	Het
Il17rd	T	A	14: 26,821,510 (GRCm39)	I268N	probably damaging	Het
Ipcef1	C	T	10: 6,850,641 (GRCm39)	V317M	probably damaging	Het
Itgae	A	T	11: 73,031,513 (GRCm39)	E1076D	probably benign	Het
Kcnq5	A	T	1: 21,539,771 (GRCm39)	Y382*	probably null	Het
Kif21b	G	A	1: 136,075,612 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,553,044 (GRCm39)		probably benign	Het
Naca	T	C	10: 127,877,547 (GRCm39)		probably benign	Het
Naif1	C	T	2: 32,344,887 (GRCm39)	P197L	probably benign	Het
Nrk	T	C	X: 137,876,197 (GRCm39)	L466P	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Pkn1	G	A	8: 84,407,867 (GRCm39)	A421V	probably benign	Het
Rusc2	A	G	4: 43,415,456 (GRCm39)	Q254R	probably benign	Het
Ryr1	G	T	7: 28,774,223 (GRCm39)	R2404S	probably damaging	Het
Selenon	T	C	4: 134,270,380 (GRCm39)	D324G	probably null	Het
Serpinh1	T	C	7: 98,998,228 (GRCm39)	Y134C	probably damaging	Het
Serpini2	T	C	3: 75,166,921 (GRCm39)	Y112C	probably damaging	Het
Setx	T	G	2: 29,038,637 (GRCm39)	C1707W	probably damaging	Het
Sit1	C	T	4: 43,483,314 (GRCm39)	R50H	possibly damaging	Het
Slc27a5	T	A	7: 12,723,487 (GRCm39)		probably benign	Het
Slc5a4b	C	T	10: 75,910,907 (GRCm39)	V310M	probably damaging	Het
Smc6	T	C	12: 11,326,294 (GRCm39)	V97A	probably damaging	Het
Ube2frt	A	G	12: 36,140,574 (GRCm39)		probably benign	Het
Usp42	T	C	5: 143,707,384 (GRCm39)		probably benign	Het
Utrn	A	T	10: 12,615,105 (GRCm39)		probably null	Het
Vmn2r82	A	G	10: 79,232,082 (GRCm39)	I694V	probably benign	Het
Vmn2r-ps69	T	C	7: 84,956,832 (GRCm39)		noncoding transcript	Het
Zfpm2	A	G	15: 40,965,719 (GRCm39)	T603A	probably benign	Het

Other mutations in Lilrb4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Lilrb4a	APN	10	51,370,161 (GRCm39)	missense	probably benign	0.42
IGL02057:Lilrb4a	APN	10	51,368,103 (GRCm39)	missense	possibly damaging	0.81
IGL02386:Lilrb4a	APN	10	51,367,322 (GRCm39)	nonsense	probably null
IGL02999:Lilrb4a	APN	10	51,370,239 (GRCm39)	missense	probably damaging	1.00
IGL03292:Lilrb4a	APN	10	51,370,942 (GRCm39)	splice site	probably null
IGL03382:Lilrb4a	APN	10	51,367,616 (GRCm39)	missense	probably benign	0.10
R0276:Lilrb4a	UTSW	10	51,367,677 (GRCm39)	missense	probably benign	0.01
R0470:Lilrb4a	UTSW	10	51,370,923 (GRCm39)	missense	possibly damaging	0.87
R1313:Lilrb4a	UTSW	10	51,356,832 (GRCm39)	missense	probably benign	0.25
R1459:Lilrb4a	UTSW	10	51,367,683 (GRCm39)	missense	probably benign	0.44
R1675:Lilrb4a	UTSW	10	51,372,281 (GRCm39)	missense	probably benign	0.37
R1819:Lilrb4a	UTSW	10	51,372,124 (GRCm39)	missense	probably damaging	1.00
R1914:Lilrb4a	UTSW	10	51,368,045 (GRCm39)	missense	probably benign	0.04
R2265:Lilrb4a	UTSW	10	51,367,633 (GRCm39)	nonsense	probably null
R2338:Lilrb4a	UTSW	10	51,367,796 (GRCm39)	missense	probably benign	0.13
R2884:Lilrb4a	UTSW	10	51,367,709 (GRCm39)	missense	probably benign	0.01
R4322:Lilrb4a	UTSW	10	51,367,707 (GRCm39)	missense	probably damaging	1.00
R4624:Lilrb4a	UTSW	10	51,367,584 (GRCm39)	missense	probably damaging	1.00
R4923:Lilrb4a	UTSW	10	51,368,139 (GRCm39)	missense	possibly damaging	0.67
R5001:Lilrb4a	UTSW	10	51,367,516 (GRCm39)	splice site	probably null
R5262:Lilrb4a	UTSW	10	51,369,303 (GRCm39)	critical splice donor site	probably null
R6224:Lilrb4a	UTSW	10	51,367,745 (GRCm39)	missense	probably damaging	1.00
R7447:Lilrb4a	UTSW	10	51,367,149 (GRCm39)	critical splice donor site	probably null
R7763:Lilrb4a	UTSW	10	51,367,142 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGGAAGATGTTCAGGGCCTTTG -3'
(R):5'- TGGACTCTGAGAGAAGAGCTC -3'

Sequencing Primer
(F):5'- GGGCCTTTGATTTCTTCACAGGAC -3'
(R):5'- CCTGGAAAATAGATCTCCTTCTGAGG -3'

Posted On

2015-01-23