Mutagenetix > Incidental Mutation

Incidental Mutation 'R6034:Lilra5'

486438

Institutional Source

Beutler Lab

Gene Symbol

Lilra5

Ensembl Gene

ENSMUSG00000070873

Gene Name

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5

Synonyms

Gm4878

MMRRC Submission

044206-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6034 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4240753-4246462 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4245133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 259 (L259P)

Ref Sequence

ENSEMBL: ENSMUSP00000113091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117550]

AlphaFold

D3Z7A9

Predicted Effect

probably benign
Transcript: ENSMUST00000117550
AA Change: L259P

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113091
Gene: ENSMUSG00000070873
AA Change: L259P

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	34	118	4.67e-4	SMART
IG_like	129	217	5.13e0	SMART
transmembrane domain	250	267	N/A	INTRINSIC

Meta Mutation Damage Score

0.2061

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (55/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	T	1: 34,760,984 (GRCm39)	G80V	unknown	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Atad2	A	T	15: 57,971,959 (GRCm39)	L306Q	probably damaging	Het
Atp2b4	T	A	1: 133,659,645 (GRCm39)		probably null	Het
Atp6v1c2	C	A	12: 17,357,501 (GRCm39)	G95V	possibly damaging	Het
Birc6	T	A	17: 74,922,278 (GRCm39)	V2192E	probably damaging	Het
Catsperb	A	G	12: 101,542,091 (GRCm39)	E597G	probably benign	Het
Ccdc40	A	G	11: 119,133,898 (GRCm39)	M556V	possibly damaging	Het
Ccin	G	A	4: 43,985,354 (GRCm39)	R587K	probably benign	Het
Cdipt	T	G	7: 126,577,497 (GRCm39)	V81G	probably damaging	Het
Cert1	A	C	13: 96,746,308 (GRCm39)	I236L	probably benign	Het
Cfh	T	C	1: 140,090,869 (GRCm39)	K40E	probably damaging	Het
Cps1	T	A	1: 67,196,872 (GRCm39)		probably null	Het
Dnah7c	A	T	1: 46,496,418 (GRCm39)	D101V	probably benign	Het
Fastkd3	T	A	13: 68,731,729 (GRCm39)	W17R	probably damaging	Het
Gapdh	T	C	6: 125,142,261 (GRCm39)	D25G	probably benign	Het
H1f4	A	G	13: 23,806,296 (GRCm39)	L62P	probably damaging	Het
H2-Ob	T	C	17: 34,460,192 (GRCm39)	V30A	probably damaging	Het
Hmgxb3	T	A	18: 61,265,594 (GRCm39)	H1128L	probably damaging	Het
Hspbp1	A	T	7: 4,680,711 (GRCm39)	I255N	probably damaging	Het
Imp4	A	G	1: 34,482,537 (GRCm39)	D91G	probably damaging	Het
Itprid1	T	A	6: 55,944,666 (GRCm39)	D462E	possibly damaging	Het
Kcnip4	G	T	5: 48,548,283 (GRCm39)	R241S	possibly damaging	Het
Lipf	T	C	19: 33,942,289 (GRCm39)	I73T	probably benign	Het
Lsm7	T	C	10: 80,688,742 (GRCm39)		probably null	Het
Luzp2	T	A	7: 54,816,972 (GRCm39)	L141M	probably damaging	Het
Malrd1	T	A	2: 15,850,137 (GRCm39)	V1252E	possibly damaging	Het
Map10	T	C	8: 126,399,205 (GRCm39)	L866P	probably damaging	Het
Mink1	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 70,497,866 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,952,460 (GRCm39)	I355V	possibly damaging	Het
Mtrf1l	T	A	10: 5,773,834 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,163,187 (GRCm39)	T339S	probably benign	Het
Naa15	A	G	3: 51,350,242 (GRCm39)	D163G	probably damaging	Het
Oosp2	A	G	19: 11,628,879 (GRCm39)	F74S	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4f7	T	A	2: 111,644,702 (GRCm39)	Y123F	probably damaging	Het
Pard3	C	G	8: 127,791,077 (GRCm39)		probably benign	Het
Pcdha1	T	A	18: 37,063,651 (GRCm39)	I105N	probably damaging	Het
Pcdhgb8	A	G	18: 37,895,601 (GRCm39)	T224A	possibly damaging	Het
Phf12	A	G	11: 77,908,895 (GRCm39)	N325S	probably benign	Het
Prom1	T	A	5: 44,201,750 (GRCm39)		probably null	Het
Raet1e	A	G	10: 22,057,990 (GRCm39)	*252W	probably null	Het
Sap130	T	C	18: 31,822,459 (GRCm39)	V655A	possibly damaging	Het
Sec16b	A	T	1: 157,380,509 (GRCm39)	K360I	probably damaging	Het
Sec23ip	C	T	7: 128,351,927 (GRCm39)	T101I	possibly damaging	Het
Selenoo	A	G	15: 88,983,546 (GRCm39)	K529R	probably benign	Het
Slc22a15	A	G	3: 101,770,235 (GRCm39)	F451L	possibly damaging	Het
St6gal2	T	A	17: 55,789,982 (GRCm39)	S339T	probably benign	Het
Stard13	A	T	5: 151,018,965 (GRCm39)		probably null	Het
Synm	A	G	7: 67,384,653 (GRCm39)	V561A	probably damaging	Het
Tc2n	A	T	12: 101,617,460 (GRCm39)		probably null	Het
Ugt2b36	T	A	5: 87,229,377 (GRCm39)	D236V	probably damaging	Het
Vmn1r65	A	G	7: 6,011,868 (GRCm39)	L122P	probably damaging	Het
Zc3h14	T	C	12: 98,737,632 (GRCm39)	S40P	probably benign	Het
Zc3hav1l	C	A	6: 38,272,215 (GRCm39)	G185C	probably damaging	Het
Zfp563	G	A	17: 33,323,935 (GRCm39)	A177T	probably damaging	Het

Other mutations in Lilra5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02189:Lilra5	APN	7	4,240,968 (GRCm39)	missense	probably benign
IGL02281:Lilra5	APN	7	4,241,782 (GRCm39)	missense	probably benign	0.00
R0458:Lilra5	UTSW	7	4,241,218 (GRCm39)	missense	probably benign	0.26
R0611:Lilra5	UTSW	7	4,245,232 (GRCm39)	missense	probably benign
R0685:Lilra5	UTSW	7	4,244,956 (GRCm39)	splice site	probably benign
R3195:Lilra5	UTSW	7	4,241,756 (GRCm39)	missense	probably damaging	0.96
R4726:Lilra5	UTSW	7	4,240,957 (GRCm39)	missense	probably benign	0.00
R4745:Lilra5	UTSW	7	4,245,076 (GRCm39)	missense	possibly damaging	0.72
R4836:Lilra5	UTSW	7	4,241,713 (GRCm39)	missense	possibly damaging	0.71
R6034:Lilra5	UTSW	7	4,245,133 (GRCm39)	missense	probably benign	0.33
R6263:Lilra5	UTSW	7	4,241,360 (GRCm39)	missense	probably damaging	1.00
R6266:Lilra5	UTSW	7	4,244,927 (GRCm39)	missense	possibly damaging	0.84
R6285:Lilra5	UTSW	7	4,245,114 (GRCm39)	missense	probably damaging	1.00
R6292:Lilra5	UTSW	7	4,241,338 (GRCm39)	missense	possibly damaging	0.81
R6344:Lilra5	UTSW	7	4,241,785 (GRCm39)	missense	probably damaging	1.00
R6861:Lilra5	UTSW	7	4,244,931 (GRCm39)	missense	probably benign	0.14
R8353:Lilra5	UTSW	7	4,240,971 (GRCm39)	missense	probably benign	0.06
R8681:Lilra5	UTSW	7	4,241,216 (GRCm39)	missense	probably benign	0.17
R8844:Lilra5	UTSW	7	4,241,663 (GRCm39)	missense	probably damaging	0.99
R8867:Lilra5	UTSW	7	4,241,165 (GRCm39)	missense	possibly damaging	0.46
R8975:Lilra5	UTSW	7	4,241,636 (GRCm39)	missense	probably benign	0.03
R9393:Lilra5	UTSW	7	4,240,758 (GRCm39)	start codon destroyed	probably null	1.00
R9646:Lilra5	UTSW	7	4,244,907 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCTTAGAAGCCGATCAGCC -3'
(R):5'- GGTTCCCTATTGTAGTCCCAG -3'

Sequencing Primer
(F):5'- GGTAAGTACAGAGAATTCTTAACCG -3'
(R):5'- GATGTTTTCTTCCAGAACCACCTGAG -3'

Posted On

2017-08-16