Incidental Mutation 'R3721:Lair1'
| ID |
258906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lair1
|
| Ensembl Gene |
ENSMUSG00000055541 |
| Gene Name |
leukocyte-associated Ig-like receptor 1 |
| Synonyms |
5133400O11Rik, Lair-1, D7Bwg0421e, mLair-1 |
| MMRRC Submission |
040712-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3721 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4006401-4066203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 4013782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 155
(L155R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083589
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068865]
[ENSMUST00000086400]
[ENSMUST00000086401]
[ENSMUST00000108600]
[ENSMUST00000131126]
[ENSMUST00000136616]
[ENSMUST00000149395]
[ENSMUST00000205296]
|
| AlphaFold |
Q8BG84 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068865
AA Change: L45R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070712
Gene: ENSMUSG00000055541
AA Change: L45R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086400
AA Change: L155R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083588
Gene: ENSMUSG00000055541
AA Change: L155R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
PDB:4ETY|D
|
22 |
134 |
5e-79 |
PDB |
|
SCOP:d1nkr_2
|
24 |
118 |
2e-9 |
SMART |
|
Blast:IG
|
38 |
119 |
9e-27 |
BLAST |
|
transmembrane domain
|
143 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086401
AA Change: L155R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083589
Gene: ENSMUSG00000055541
AA Change: L155R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
PDB:4ETY|D
|
22 |
134 |
1e-78 |
PDB |
|
SCOP:d1nkr_2
|
24 |
118 |
2e-9 |
SMART |
|
Blast:IG
|
38 |
119 |
2e-26 |
BLAST |
|
transmembrane domain
|
143 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108600
|
| SMART Domains |
Protein: ENSMUSP00000104241
Gene: ENSMUSG00000055541
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
PDB:4ETY|D
|
22 |
133 |
8e-79 |
PDB |
|
SCOP:d1nkr_2
|
24 |
118 |
1e-9 |
SMART |
|
Blast:IG
|
38 |
119 |
6e-27 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131126
|
| SMART Domains |
Protein: ENSMUSP00000121738
Gene: ENSMUSG00000055541
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136616
|
| SMART Domains |
Protein: ENSMUSP00000122037
Gene: ENSMUSG00000055541
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149395
|
| SMART Domains |
Protein: ENSMUSP00000116800
Gene: ENSMUSG00000055541
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206445
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205296
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (59/59) |
| 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 an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are healthy and of normal longevity but show increased numbers of splenic B, regulatory T, and dendritic cells, and eosinophilia at a young age. Aging homozygotes display a higher frequency of activated and effector/memory T cells and a decreased IgG1 level. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
T |
C |
2: 48,782,150 (GRCm39) |
S228P |
probably damaging |
Het |
| Adamts2 |
C |
T |
11: 50,664,038 (GRCm39) |
|
probably benign |
Het |
| Arhgap9 |
A |
G |
10: 127,164,840 (GRCm39) |
E588G |
possibly damaging |
Het |
| Ash2l |
C |
G |
8: 26,308,653 (GRCm39) |
G453A |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,404,527 (GRCm39) |
V638A |
probably benign |
Het |
| Ccrl2 |
T |
C |
9: 110,885,432 (GRCm39) |
D22G |
probably benign |
Het |
| Cdc73 |
T |
C |
1: 143,571,191 (GRCm39) |
I83V |
possibly damaging |
Het |
| Ceacam23 |
A |
G |
7: 17,636,663 (GRCm39) |
T247A |
probably benign |
Het |
| Clec2e |
C |
A |
6: 129,071,373 (GRCm39) |
E155* |
probably null |
Het |
| Cyp3a59 |
T |
A |
5: 146,033,407 (GRCm39) |
M181K |
probably damaging |
Het |
| Dars2 |
A |
T |
1: 160,890,878 (GRCm39) |
V111E |
probably benign |
Het |
| Diras2 |
T |
A |
13: 52,662,059 (GRCm39) |
I83F |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,361,008 (GRCm39) |
|
probably null |
Het |
| Dnai1 |
G |
A |
4: 41,602,615 (GRCm39) |
R113H |
probably damaging |
Het |
| Eeig2 |
C |
T |
3: 108,887,083 (GRCm39) |
R305Q |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,580,449 (GRCm39) |
N759S |
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Ggnbp1 |
T |
C |
17: 27,248,587 (GRCm39) |
V52A |
probably benign |
Het |
| Gpr171 |
A |
G |
3: 59,005,091 (GRCm39) |
V228A |
possibly damaging |
Het |
| Gsta3 |
T |
C |
1: 21,330,313 (GRCm39) |
M55T |
probably benign |
Het |
| Hectd3 |
T |
A |
4: 116,856,942 (GRCm39) |
N496K |
probably benign |
Het |
| Hp1bp3 |
T |
G |
4: 137,966,919 (GRCm39) |
F367V |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,576,248 (GRCm39) |
L253Q |
probably damaging |
Het |
| Irs1 |
C |
T |
1: 82,267,806 (GRCm39) |
G137S |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Larp7 |
A |
G |
3: 127,340,460 (GRCm39) |
L126P |
probably damaging |
Het |
| Lhx1 |
G |
A |
11: 84,412,654 (GRCm39) |
R89C |
probably damaging |
Het |
| Lypd4 |
C |
A |
7: 24,564,884 (GRCm39) |
A85S |
probably benign |
Het |
| Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
| Myh10 |
G |
T |
11: 68,703,878 (GRCm39) |
R1863L |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,775,463 (GRCm39) |
V1025I |
probably benign |
Het |
| Naa25 |
T |
A |
5: 121,569,619 (GRCm39) |
D659E |
probably benign |
Het |
| Nol9 |
A |
G |
4: 152,124,163 (GRCm39) |
S118G |
probably benign |
Het |
| Or4k2 |
C |
T |
14: 50,424,137 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or5p72 |
G |
T |
7: 108,022,326 (GRCm39) |
D183Y |
probably damaging |
Het |
| Pde10a |
T |
A |
17: 9,188,421 (GRCm39) |
I907N |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,655,879 (GRCm39) |
D218G |
probably benign |
Het |
| Poll |
A |
G |
19: 45,542,016 (GRCm39) |
I430T |
probably damaging |
Het |
| Pomgnt1 |
T |
G |
4: 116,010,740 (GRCm39) |
|
probably benign |
Het |
| Rab6b |
T |
C |
9: 103,044,373 (GRCm39) |
|
probably null |
Het |
| Rad1 |
T |
C |
15: 10,488,112 (GRCm39) |
S79P |
probably benign |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Rcc1 |
T |
C |
4: 132,065,125 (GRCm39) |
K133E |
possibly damaging |
Het |
| Ric8a |
T |
C |
7: 140,441,874 (GRCm39) |
|
probably null |
Het |
| Rnf135 |
G |
T |
11: 80,087,743 (GRCm39) |
A231S |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,816,645 (GRCm39) |
V146A |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,050 (GRCm39) |
I633V |
possibly damaging |
Het |
| Slc2a2 |
T |
A |
3: 28,781,301 (GRCm39) |
N446K |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,491,445 (GRCm39) |
Y61H |
probably damaging |
Het |
| Slc7a1 |
G |
A |
5: 148,272,343 (GRCm39) |
R445* |
probably null |
Het |
| Smc5 |
T |
C |
19: 23,187,856 (GRCm39) |
M911V |
probably benign |
Het |
| Sntb1 |
C |
A |
15: 55,506,214 (GRCm39) |
R453L |
probably benign |
Het |
| Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
| Srrm2 |
CTCCTCTTCTTCCTCTTCTTCCTC |
CTCCTCTTCTTCCTC |
17: 24,041,549 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
G |
7: 63,867,475 (GRCm39) |
|
probably benign |
Het |
| Tufm |
T |
C |
7: 126,089,632 (GRCm39) |
M442T |
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,891,242 (GRCm39) |
N539S |
possibly damaging |
Het |
|
| Other mutations in Lair1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Lair1
|
APN |
7 |
4,031,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01475:Lair1
|
APN |
7 |
4,012,683 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02696:Lair1
|
APN |
7 |
4,013,848 (GRCm39) |
intron |
probably benign |
|
|
IGL02749:Lair1
|
APN |
7 |
4,031,900 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0396:Lair1
|
UTSW |
7 |
4,013,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0703:Lair1
|
UTSW |
7 |
4,013,759 (GRCm39) |
missense |
probably null |
0.99 |
|
R1053:Lair1
|
UTSW |
7 |
4,031,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1332:Lair1
|
UTSW |
7 |
4,013,595 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1717:Lair1
|
UTSW |
7 |
4,013,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Lair1
|
UTSW |
7 |
4,066,063 (GRCm39) |
splice site |
probably null |
|
|
R2509:Lair1
|
UTSW |
7 |
4,013,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4021:Lair1
|
UTSW |
7 |
4,058,915 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4784:Lair1
|
UTSW |
7 |
4,012,731 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4873:Lair1
|
UTSW |
7 |
4,032,033 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4875:Lair1
|
UTSW |
7 |
4,032,033 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4940:Lair1
|
UTSW |
7 |
4,031,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5125:Lair1
|
UTSW |
7 |
4,013,488 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5178:Lair1
|
UTSW |
7 |
4,013,488 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5888:Lair1
|
UTSW |
7 |
4,013,844 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5965:Lair1
|
UTSW |
7 |
4,032,023 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6119:Lair1
|
UTSW |
7 |
4,031,895 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6265:Lair1
|
UTSW |
7 |
4,058,826 (GRCm39) |
intron |
probably benign |
|
|
R6305:Lair1
|
UTSW |
7 |
4,013,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6915:Lair1
|
UTSW |
7 |
4,058,952 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7964:Lair1
|
UTSW |
7 |
4,013,803 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7991:Lair1
|
UTSW |
7 |
4,031,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9414:Lair1
|
UTSW |
7 |
4,013,819 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9787:Lair1
|
UTSW |
7 |
4,013,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGTTATTCCAAGTGTCTCACC -3'
(R):5'- GGCCAACACTTATGACCAGTG -3'
Sequencing Primer
(F):5'- AAGTGTCTCACCTCTCTTCTGG -3'
(R):5'- ACTTATGACCAGTGACACAAGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation