Incidental Mutation 'R4322:Lilrb4a'
ID 323876
Institutional Source Beutler Lab
Gene Symbol Lilrb4a
Ensembl Gene ENSMUSG00000112148
Gene Name leukocyte immunoglobulin-like receptor, subfamily B, member 4A
Synonyms Gp49b, CD85K, ILT3, Lilrb4, HM18
MMRRC Submission 041093-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R4322 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 51367052-51372707 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51367707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 83 (F83S)
Ref Sequence ENSEMBL: ENSMUSP00000151694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078778] [ENSMUST00000102894] [ENSMUST00000217705] [ENSMUST00000217706] [ENSMUST00000219696] [ENSMUST00000218123] [ENSMUST00000218617] [ENSMUST00000220182] [ENSMUST00000220226] [ENSMUST00000219960]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000078778
AA Change: F83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077833
Gene: ENSMUSG00000112148
AA Change: F83S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG_like 28 118 4.91e1 SMART
IG_like 129 219 1.84e1 SMART
transmembrane domain 239 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102894
SMART Domains Protein: ENSMUSP00000099958
Gene: ENSMUSG00000112023

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
SCOP:d1nkr_2 24 118 3e-14 SMART
Blast:IG_like 28 118 5e-49 BLAST
Pfam:Ig_3 123 200 6.5e-8 PFAM
Pfam:Ig_2 123 218 5.9e-8 PFAM
Pfam:ig 127 211 8.4e-9 PFAM
transmembrane domain 239 261 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105481
AA Change: F83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101121
Gene: ENSMUSG00000062593
AA Change: F83S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG_like 28 118 4.91e1 SMART
IG_like 129 219 1.84e1 SMART
transmembrane domain 239 261 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105482
AA Change: F83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101122
Gene: ENSMUSG00000062593
AA Change: F83S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG_like 28 118 4.91e1 SMART
IG_like 129 219 1.84e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000217705
Predicted Effect probably damaging
Transcript: ENSMUST00000217706
AA Change: F83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000219696
AA Change: F83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000218123
AA Change: F83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219848
Predicted Effect probably benign
Transcript: ENSMUST00000218617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219029
Predicted Effect probably damaging
Transcript: ENSMUST00000220182
AA Change: F83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220402
Predicted Effect probably benign
Transcript: ENSMUST00000220226
Predicted Effect probably benign
Transcript: ENSMUST00000219960
Meta Mutation Damage Score 0.5657 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 94% (48/51)
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased sensitivity to IgE-dependent passive cutaneous anaphylaxis and a reduced threshold for antigen challenge in active cutaneous anaphylaxis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 G A 4: 154,751,701 (GRCm39) A145V probably damaging Het
Allc C A 12: 28,604,023 (GRCm39) L353F probably benign Het
Alx3 C T 3: 107,502,691 (GRCm39) P67L probably benign Het
Arhgef10l C A 4: 140,270,037 (GRCm39) G882V probably benign Het
Asb13 G T 13: 3,695,012 (GRCm39) R160L possibly damaging Het
Atxn7l2 A T 3: 108,113,148 (GRCm39) D218E probably damaging Het
Bdp1 T A 13: 100,228,731 (GRCm39) N299I probably damaging Het
Ccdc80 G T 16: 44,915,951 (GRCm39) V236L probably damaging Het
Cdhr2 A T 13: 54,881,534 (GRCm39) I1085L probably benign Het
Csn2 C T 5: 87,845,886 (GRCm39) probably null Het
Dnajb14 G A 3: 137,591,060 (GRCm39) G54S probably damaging Het
Fyb1 T A 15: 6,610,300 (GRCm39) L291Q possibly damaging Het
Ggcx A G 6: 72,405,803 (GRCm39) S545G probably benign Het
Gm12250 G A 11: 58,079,126 (GRCm39) noncoding transcript Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Kng1 A C 16: 22,898,270 (GRCm39) M557L probably benign Het
Lmcd1 A G 6: 112,292,724 (GRCm39) E192G possibly damaging Het
Lrp2 C A 2: 69,256,335 (GRCm39) E4602* probably null Het
Mc4r T C 18: 66,992,121 (GRCm39) R331G probably benign Het
Mybpc3 A G 2: 90,954,306 (GRCm39) D393G possibly damaging Het
Or2y1f G A 11: 49,184,503 (GRCm39) M118I probably damaging Het
Or4c10b A G 2: 89,712,078 (GRCm39) K303E probably benign Het
Or5p69 C T 7: 107,967,555 (GRCm39) P286L probably damaging Het
Orc1 G A 4: 108,445,973 (GRCm39) M30I probably benign Het
Pira13 A G 7: 3,825,754 (GRCm39) S372P possibly damaging Het
Pot1a T C 6: 25,745,929 (GRCm39) T591A probably benign Het
Rnf125 G A 18: 21,110,817 (GRCm39) R25K probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sh3rf2 A T 18: 42,244,464 (GRCm39) H310L probably damaging Het
Shld2 G T 14: 33,981,632 (GRCm39) T502K probably damaging Het
Srgap1 T C 10: 121,705,711 (GRCm39) K238E probably damaging Het
Ssc5d C T 7: 4,931,449 (GRCm39) R219C probably damaging Het
Them5 C A 3: 94,253,463 (GRCm39) H158N probably damaging Het
Vmn1r203 A T 13: 22,708,408 (GRCm39) N63I probably damaging Het
Vps41 T A 13: 19,007,960 (GRCm39) F264L probably damaging Het
Vtn A T 11: 78,390,916 (GRCm39) probably benign Het
Other mutations in Lilrb4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Lilrb4a APN 10 51,370,161 (GRCm39) missense probably benign 0.42
IGL02057:Lilrb4a APN 10 51,368,103 (GRCm39) missense possibly damaging 0.81
IGL02386:Lilrb4a APN 10 51,367,322 (GRCm39) nonsense probably null
IGL02999:Lilrb4a APN 10 51,370,239 (GRCm39) missense probably damaging 1.00
IGL03292:Lilrb4a APN 10 51,370,942 (GRCm39) splice site probably null
IGL03382:Lilrb4a APN 10 51,367,616 (GRCm39) missense probably benign 0.10
R0276:Lilrb4a UTSW 10 51,367,677 (GRCm39) missense probably benign 0.01
R0470:Lilrb4a UTSW 10 51,370,923 (GRCm39) missense possibly damaging 0.87
R1313:Lilrb4a UTSW 10 51,356,832 (GRCm39) missense probably benign 0.25
R1459:Lilrb4a UTSW 10 51,367,683 (GRCm39) missense probably benign 0.44
R1675:Lilrb4a UTSW 10 51,372,281 (GRCm39) missense probably benign 0.37
R1819:Lilrb4a UTSW 10 51,372,124 (GRCm39) missense probably damaging 1.00
R1914:Lilrb4a UTSW 10 51,368,045 (GRCm39) missense probably benign 0.04
R2265:Lilrb4a UTSW 10 51,367,633 (GRCm39) nonsense probably null
R2338:Lilrb4a UTSW 10 51,367,796 (GRCm39) missense probably benign 0.13
R2884:Lilrb4a UTSW 10 51,367,709 (GRCm39) missense probably benign 0.01
R2886:Lilrb4a UTSW 10 51,367,709 (GRCm39) missense probably benign 0.01
R4624:Lilrb4a UTSW 10 51,367,584 (GRCm39) missense probably damaging 1.00
R4923:Lilrb4a UTSW 10 51,368,139 (GRCm39) missense possibly damaging 0.67
R5001:Lilrb4a UTSW 10 51,367,516 (GRCm39) splice site probably null
R5262:Lilrb4a UTSW 10 51,369,303 (GRCm39) critical splice donor site probably null
R6224:Lilrb4a UTSW 10 51,367,745 (GRCm39) missense probably damaging 1.00
R7447:Lilrb4a UTSW 10 51,367,149 (GRCm39) critical splice donor site probably null
R7763:Lilrb4a UTSW 10 51,367,142 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAGGAAGATGTTCAGGGCCTTTG -3'
(R):5'- TGGACTCTGAGAGAAGAGCTC -3'

Sequencing Primer
(F):5'- GGGCCTTTGATTTCTTCACAGGAC -3'
(R):5'- CCTGGAAAATAGATCTCCTTCTGAGG -3'
Posted On 2015-06-24