Incidental Mutation 'R9787:Lair1'
ID 734398
Institutional Source Beutler Lab
Gene Symbol Lair1
Ensembl Gene ENSMUSG00000055541
Gene Name leukocyte-associated Ig-like receptor 1
Synonyms mLair-1, Lair-1, 5133400O11Rik, D7Bwg0421e
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9787 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 4003402-4063204 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4010795 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 151 (V151E)
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 possibly damaging
Transcript: ENSMUST00000068865
AA Change: V41E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070712
Gene: ENSMUSG00000055541
AA Change: V41E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 33 55 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000086400
AA Change: V151E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083588
Gene: ENSMUSG00000055541
AA Change: V151E

DomainStartEndE-ValueType
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: V151E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083589
Gene: ENSMUSG00000055541
AA Change: V151E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136616
SMART Domains Protein: ENSMUSP00000122037
Gene: ENSMUSG00000055541

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149395
SMART Domains Protein: ENSMUSP00000116800
Gene: ENSMUSG00000055541

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205296
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 97.9%
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,501,271 T26A probably benign Het
Arhgap27 A G 11: 103,339,222 S239P possibly damaging Het
Bambi T C 18: 3,511,515 V112A possibly damaging Het
BC034090 T A 1: 155,242,209 E54D possibly damaging Het
BC052040 T A 2: 115,674,755 L169Q probably damaging Het
Chst13 C T 6: 90,309,092 R296H probably benign Het
Clip2 C T 5: 134,504,762 R487Q probably benign Het
Ctbs T A 3: 146,454,354 V46E probably damaging Het
Cyp2b9 A G 7: 26,200,834 I356V probably benign Het
Dot1l A G 10: 80,764,638 T40A probably benign Het
Dst C T 1: 34,180,443 T1988M probably benign Het
Fam184a T A 10: 53,750,768 D38V possibly damaging Het
Fank1 T A 7: 133,862,158 F83I probably damaging Het
Fto T A 8: 91,485,258 W404R probably damaging Het
Gabra4 T A 5: 71,633,661 R279S possibly damaging Het
Garem2 C T 5: 30,114,221 P227L probably damaging Het
Gfra4 C A 2: 131,042,680 M1I probably null Het
Gin1 T A 1: 97,775,486 H11Q probably damaging Het
Gli3 G A 13: 15,725,801 G1258R probably damaging Het
Gsx1 T C 5: 147,189,867 S167P probably damaging Het
Gtf2b AATCATC AATC 3: 142,771,417 probably benign Het
Il7 G A 3: 7,576,111 R82C probably damaging Het
Lpar1 T C 4: 58,437,349 D360G probably benign Het
Malrd1 T A 2: 15,620,590 N345K unknown Het
Mbnl1 T A 3: 60,595,665 N82K probably damaging Het
Mtdh C A 15: 34,123,698 T357N probably benign Het
Muc6 T A 7: 141,641,481 K1306* probably null Het
Nsd1 T A 13: 55,313,705 C2685S probably benign Het
Olfr2 A T 7: 107,001,692 L56H probably damaging Het
Optn T A 2: 5,031,339 Q444L probably damaging Het
Pan2 T A 10: 128,308,354 D157E probably benign Het
Pole G A 5: 110,318,000 probably null Het
Stau2 A T 1: 16,460,371 I108N unknown Het
Sugp2 A G 8: 70,242,778 K134E probably benign Het
Tcaf3 C T 6: 42,597,090 V63I probably benign Het
Tcf7 T A 11: 52,282,946 probably benign Het
Ttn C T 2: 76,885,013 E7912K unknown Het
Tubb2b T C 13: 34,128,426 D128G probably benign Het
Umodl1 A T 17: 30,959,350 Q100L probably damaging Het
Unc79 T A 12: 103,146,361 N2230K probably benign Het
Zc3hav1l T C 6: 38,295,166 T223A probably benign Het
Zfhx4 G A 3: 5,390,446 D1167N possibly damaging Het
Zfp36 A T 7: 28,377,919 L200Q probably damaging Het
Zswim9 T A 7: 13,260,278 L650F probably damaging Het
Other mutations in Lair1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Lair1 APN 7 4028731 missense probably benign 0.01
IGL01475:Lair1 APN 7 4009684 utr 3 prime probably benign
IGL02696:Lair1 APN 7 4010849 intron probably benign
IGL02749:Lair1 APN 7 4028901 missense possibly damaging 0.50
R0396:Lair1 UTSW 7 4010786 missense probably damaging 1.00
R0703:Lair1 UTSW 7 4010760 missense probably null 0.99
R1053:Lair1 UTSW 7 4028785 missense probably damaging 1.00
R1332:Lair1 UTSW 7 4010596 missense possibly damaging 0.77
R1717:Lair1 UTSW 7 4010789 missense probably damaging 1.00
R2022:Lair1 UTSW 7 4063064 splice site probably null
R2509:Lair1 UTSW 7 4010783 missense probably damaging 1.00
R3721:Lair1 UTSW 7 4010783 missense probably damaging 1.00
R4021:Lair1 UTSW 7 4055916 critical splice donor site probably null
R4784:Lair1 UTSW 7 4009732 missense probably benign 0.15
R4873:Lair1 UTSW 7 4029034 missense probably benign 0.05
R4875:Lair1 UTSW 7 4029034 missense probably benign 0.05
R4940:Lair1 UTSW 7 4028949 missense probably benign 0.00
R5125:Lair1 UTSW 7 4010489 missense possibly damaging 0.92
R5178:Lair1 UTSW 7 4010489 missense possibly damaging 0.92
R5888:Lair1 UTSW 7 4010845 missense probably damaging 0.96
R5965:Lair1 UTSW 7 4029024 missense possibly damaging 0.46
R6119:Lair1 UTSW 7 4028896 missense probably benign 0.43
R6265:Lair1 UTSW 7 4055827 intron probably benign
R6305:Lair1 UTSW 7 4010728 critical splice donor site probably null
R6915:Lair1 UTSW 7 4055953 missense possibly damaging 0.89
R7964:Lair1 UTSW 7 4010804 missense probably benign 0.22
R7991:Lair1 UTSW 7 4028970 missense probably damaging 1.00
R9414:Lair1 UTSW 7 4010820 missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TTTGGGAGTCCTGAGAATAGTCAG -3'
(R):5'- TCAGGCCAACACTTATGACCAG -3'

Sequencing Primer
(F):5'- GTCAGAATCAGTTCACATTTAGGAGG -3'
(R):5'- ACTTATGACCAGTGACACAAGG -3'
Posted On 2022-11-14