Incidental Mutation 'R3195:Lilra5'
| ID |
267598 |
| 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 |
040616-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R3195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4240753-4246462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4241756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 185
(G185D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117550]
|
| AlphaFold |
D3Z7A9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117550
AA Change: G185D
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113091
Gene: ENSMUSG00000070873
AA Change: G185D
| 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 |
0.3552 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (33/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
| Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
| Calb2 |
C |
T |
8: 110,883,635 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
A |
G |
5: 9,182,454 (GRCm39) |
|
probably benign |
Het |
| Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,921,236 (GRCm39) |
T204A |
probably benign |
Het |
| Gapdh |
T |
C |
6: 125,139,583 (GRCm39) |
N229S |
possibly damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
| Iqub |
G |
C |
6: 24,462,036 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| L1td1 |
A |
G |
4: 98,625,755 (GRCm39) |
E650G |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,615,584 (GRCm39) |
S323P |
possibly damaging |
Het |
| Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,466,801 (GRCm39) |
C283Y |
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,639,991 (GRCm39) |
L122P |
probably damaging |
Het |
| Or10c1 |
A |
G |
17: 37,522,427 (GRCm39) |
F106L |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,484 (GRCm39) |
Y278C |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,257 (GRCm39) |
E137G |
probably damaging |
Het |
| Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,925,736 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
T |
5: 22,245,418 (GRCm39) |
I730N |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
| Slc13a4 |
C |
T |
6: 35,245,861 (GRCm39) |
V595M |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,661,222 (GRCm39) |
E939G |
possibly damaging |
Het |
| Spg11 |
A |
G |
2: 121,913,879 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
T |
A |
7: 63,849,061 (GRCm39) |
Y102* |
probably null |
Het |
| Usp42 |
A |
G |
5: 143,702,954 (GRCm39) |
S556P |
probably benign |
Het |
| Zfp957 |
A |
G |
14: 79,450,332 (GRCm39) |
V489A |
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 |
|
|
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 |
|
R9646:Lilra5
|
UTSW |
7 |
4,244,907 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCAGCAATGTTGTGAATTC -3'
(R):5'- CCAGTACTCCTCCTAATCTGGG -3'
Sequencing Primer
(F):5'- ATTCAGGGGAGACTGTAACCCTTC -3'
(R):5'- TTCCTGGGACTCCCTTAGGAAAAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation