Mutagenetix > Incidental Mutation

Incidental Mutation 'R6344:Lilra5'

514049

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

044498-MU

Accession Numbers

Essential gene?

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

Stock #

R6344 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4240753-4246462 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4241785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 195 (F195I)

Ref Sequence

ENSEMBL: ENSMUSP00000113091 (fasta)

Gene Model

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

AlphaFold

D3Z7A9

Predicted Effect

probably damaging
Transcript: ENSMUST00000117550
AA Change: F195I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113091
Gene: ENSMUSG00000070873
AA Change: F195I

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.3%
20x: 94.7%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,327,706 (GRCm39)	P707L	probably damaging	Het
Bbip1	A	G	19: 53,919,912 (GRCm39)	V23A	probably benign	Het
Bdnf	A	T	2: 109,554,022 (GRCm39)	Y132F	probably benign	Het
C4bp	T	C	1: 130,583,752 (GRCm39)	D72G	probably benign	Het
Cdcp1	T	A	9: 123,011,447 (GRCm39)	K343N	possibly damaging	Het
Cep112	A	T	11: 108,410,000 (GRCm39)	Y472F	probably damaging	Het
Cops2	A	T	2: 125,700,899 (GRCm39)		probably benign	Het
Cyp27a1	T	C	1: 74,776,008 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,436,349 (GRCm39)	I3998V	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dnhd1	A	G	7: 105,343,817 (GRCm39)	I1720M	probably benign	Het
Fkbpl	A	G	17: 34,864,544 (GRCm39)	K104R	probably damaging	Het
Helq	G	T	5: 100,914,594 (GRCm39)	A966E	probably benign	Het
Iba57	G	A	11: 59,049,119 (GRCm39)	P350L	probably damaging	Het
Iqgap3	T	C	3: 87,989,401 (GRCm39)		probably null	Het
Kcnj9	A	G	1: 172,153,713 (GRCm39)	V137A	probably benign	Het
Kif19a	G	A	11: 114,672,777 (GRCm39)		probably null	Het
Kmt2a	A	T	9: 44,733,156 (GRCm39)		probably benign	Het
Mcm9	A	G	10: 53,414,033 (GRCm39)	I349T	probably benign	Het
Mlst8	A	G	17: 24,696,300 (GRCm39)	L143P	probably damaging	Het
Mrc1	T	C	2: 14,248,985 (GRCm39)	F174L	probably damaging	Het
Muc5b	T	A	7: 141,416,708 (GRCm39)	L3218Q	possibly damaging	Het
Myo1h	A	G	5: 114,466,776 (GRCm39)	S275G	probably damaging	Het
Myo5a	T	A	9: 75,067,791 (GRCm39)	V615D	probably benign	Het
Myo9b	T	C	8: 71,780,558 (GRCm39)	L485P	probably damaging	Het
Nav1	A	G	1: 135,378,534 (GRCm39)	Y1646H	probably damaging	Het
Nsf	A	T	11: 103,752,730 (GRCm39)	V539D	probably damaging	Het
Nutm1	A	T	2: 112,079,247 (GRCm39)	N889K	possibly damaging	Het
Or2n1b	C	T	17: 38,459,611 (GRCm39)	A44V	probably benign	Het
Or55b3	A	G	7: 102,126,738 (GRCm39)	L113P	probably damaging	Het
Pcdhga2	T	A	18: 37,803,815 (GRCm39)	V553E	probably benign	Het
Pkmyt1	T	C	17: 23,951,730 (GRCm39)	S95P	possibly damaging	Het
Ranbp2	T	A	10: 58,319,708 (GRCm39)		probably null	Het
Saxo2	T	A	7: 82,284,073 (GRCm39)	I262F	probably damaging	Het
Sco1	C	T	11: 66,946,571 (GRCm39)	R115W	probably damaging	Het
Slc27a3	G	T	3: 90,294,961 (GRCm39)	Y330*	probably null	Het
Slc6a4	C	T	11: 76,909,080 (GRCm39)	T364I	probably damaging	Het
Slit2	A	G	5: 48,377,023 (GRCm39)	I388V	probably benign	Het
Smc6	C	A	12: 11,347,107 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,488,675 (GRCm39)	W747*	probably null	Het
Stard9	T	A	2: 120,534,801 (GRCm39)	M3686K	probably benign	Het
Syne1	T	C	10: 4,972,212 (GRCm39)	D8732G	probably benign	Het
Tcaf3	A	G	6: 42,574,105 (GRCm39)	S36P	possibly damaging	Het
Trpv6	T	C	6: 41,602,356 (GRCm39)		probably null	Het
Tspear	T	C	10: 77,710,847 (GRCm39)	F490L	possibly damaging	Het
Ttn	A	G	2: 76,552,196 (GRCm39)	I31147T	probably damaging	Het
Ugt3a1	A	C	15: 9,306,317 (GRCm39)	E155D	probably damaging	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Washc2	G	T	6: 116,235,719 (GRCm39)	Q977H	probably benign	Het
Yars2	T	A	16: 16,120,899 (GRCm39)	W18R	probably benign	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
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
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'- ATTCAGGGGAGACTGTAACCC -3'
(R):5'- GCCAGTACTCCTCCTAATCTGG -3'

Sequencing Primer
(F):5'- GGAGACTGTAACCCTTCAGTG -3'
(R):5'- GGGGCTCCAGTTCAGTTTCTC -3'

Posted On

2018-04-27