Mutagenetix > Incidental Mutation

Incidental Mutation 'R9646:Lilra5'

726728

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R9646 (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 C at 4244907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 226 (L226P)

Ref Sequence

ENSEMBL: ENSMUSP00000113091 (fasta)

Gene Model

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

AlphaFold

D3Z7A9

Predicted Effect

probably damaging
Transcript: ENSMUST00000117550
AA Change: L226P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113091
Gene: ENSMUSG00000070873
AA Change: L226P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,544,926 (GRCm39)	I723N	probably damaging	Het
Agbl1	G	A	7: 76,075,648 (GRCm39)	R682Q	unknown	Het
Ankrd42	A	T	7: 92,273,257 (GRCm39)	D123E	possibly damaging	Het
Anxa4	A	T	6: 86,730,814 (GRCm39)	I121N	probably damaging	Het
Asic1	T	C	15: 99,593,414 (GRCm39)	F257S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cckar	T	C	5: 53,863,608 (GRCm39)	T118A	probably benign	Het
Cfap61	T	A	2: 145,854,152 (GRCm39)	I388N	probably damaging	Het
Chrnd	A	T	1: 87,120,311 (GRCm39)	I156F	probably damaging	Het
Col15a1	T	A	4: 47,257,187 (GRCm39)	L326Q	possibly damaging	Het
Dcpp3	A	T	17: 24,138,156 (GRCm39)	I105L	possibly damaging	Het
Dnaaf5	T	A	5: 139,151,832 (GRCm39)	H494Q	probably benign	Het
Dph5	T	A	3: 115,708,692 (GRCm39)	Y125N	probably damaging	Het
Eif4enif1	T	C	11: 3,170,280 (GRCm39)	V111A	probably damaging	Het
Etl4	T	A	2: 20,802,724 (GRCm39)	I1010K	probably benign	Het
Faf1	T	A	4: 109,652,016 (GRCm39)	W236R	probably damaging	Het
Fat4	A	G	3: 39,035,813 (GRCm39)	D3155G	probably damaging	Het
Fhip2b	T	C	14: 70,827,808 (GRCm39)	H125R	probably damaging	Het
Firrm	A	G	1: 163,822,195 (GRCm39)	V32A	probably damaging	Het
Galnt12	T	C	4: 47,120,390 (GRCm39)	I491T	probably damaging	Het
Gm10553	T	A	1: 85,077,901 (GRCm39)	L6Q	probably damaging	Het
H2-T10	A	T	17: 36,431,157 (GRCm39)	I168N	probably damaging	Het
Hdac9	T	A	12: 34,487,167 (GRCm39)	Q78L	probably damaging	Het
Hmx1	C	T	5: 35,549,400 (GRCm39)	T231M	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Hsd17b13	T	C	5: 104,124,973 (GRCm39)	K70R	probably null	Het
Hykk	C	T	9: 54,853,521 (GRCm39)	T281I	probably benign	Het
Il1r2	A	G	1: 40,162,362 (GRCm39)	D335G	probably damaging	Het
Insig2	A	C	1: 121,240,040 (GRCm39)	L87V	probably damaging	Het
Insrr	A	T	3: 87,721,805 (GRCm39)	Y1193F	probably damaging	Het
Itpr1	A	G	6: 108,371,845 (GRCm39)	Y1173C	probably damaging	Het
Kcnh8	A	G	17: 53,104,573 (GRCm39)	N190S	probably benign	Het
Kntc1	T	C	5: 123,897,119 (GRCm39)	F161L	probably benign	Het
Muc2	C	T	7: 141,276,643 (GRCm39)	A11V	probably benign	Het
Nrp2	T	C	1: 62,777,566 (GRCm39)	F124L	probably damaging	Het
Or52e4	T	C	7: 104,706,374 (GRCm39)	I307T	probably benign	Het
Or5m11b	T	A	2: 85,806,446 (GRCm39)	N286K	probably benign	Het
Or5w15	T	A	2: 87,568,512 (GRCm39)	D52V	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,114 (GRCm39)	S8T	probably damaging	Het
Pcdhb17	A	T	18: 37,618,471 (GRCm39)	N87I	possibly damaging	Het
Pdgfrb	T	A	18: 61,211,721 (GRCm39)		probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pepd	A	T	7: 34,620,882 (GRCm39)	Q49L	possibly damaging	Het
Pigo	C	A	4: 43,017,967 (GRCm39)	R1083L	probably damaging	Het
Pitpnm1	G	A	19: 4,153,269 (GRCm39)	D142N	probably damaging	Het
Plod1	C	T	4: 148,016,112 (GRCm39)	E93K	probably benign	Het
Pramel11	A	T	4: 143,623,634 (GRCm39)	V180E	probably damaging	Het
Rev3l	T	C	10: 39,698,440 (GRCm39)	I979T	probably damaging	Het
Scrib	C	T	15: 75,932,492 (GRCm39)	G743D	probably damaging	Het
Septin3	T	C	15: 82,170,088 (GRCm39)	S205P	probably benign	Het
Sez6	A	G	11: 77,867,632 (GRCm39)	K850E	probably damaging	Het
Sfxn5	T	A	6: 85,266,195 (GRCm39)	T101S	probably damaging	Het
Slc6a5	A	T	7: 49,567,496 (GRCm39)	K317*	probably null	Het
Sox8	A	T	17: 25,786,871 (GRCm39)	D277E	probably benign	Het
Sptbn2	G	T	19: 4,795,341 (GRCm39)	A1600S	probably damaging	Het
Syne1	A	G	10: 5,179,187 (GRCm39)	V4429A	possibly damaging	Het
Tnrc6b	T	A	15: 80,773,266 (GRCm39)	F1137L	possibly damaging	Het
Trim43a	A	G	9: 88,466,392 (GRCm39)	R238G	probably benign	Het
Triobp	T	C	15: 78,887,934 (GRCm39)	L1943P	probably damaging	Het
Vmn1r125	T	C	7: 21,006,261 (GRCm39)	V53A	possibly damaging	Het
Vwa5b1	T	A	4: 138,319,420 (GRCm39)	N412I	probably damaging	Het
Yipf7	T	A	5: 69,678,424 (GRCm39)	T122S	probably benign	Het
Zfp1005	C	T	2: 150,110,104 (GRCm39)	H265Y	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
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

Predicted Primers

PCR Primer
(F):5'- TAAAGACATGGGCTTCTACACC -3'
(R):5'- AATTCTGGGGCTGTGAGAC -3'

Sequencing Primer
(F):5'- GACATGGGCTTCTACACCTGACTAG -3'
(R):5'- GCTGTGAGACTGGAGGTTATAG -3'

Posted On

2022-10-06