Incidental Mutation 'R0056:Ticam2'
ID18425
Institutional Source Beutler Lab
Gene Symbol Ticam2
Ensembl Gene ENSMUSG00000056130
Gene Nametoll-like receptor adaptor molecule 2
SynonymsTirp, TRAM
MMRRC Submission 038350-MU
Accession Numbers

NCBI RefSeq: NM_173394; MGI: 3040056

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0056 (G1)
Quality Score
Status Validated
Chromosome18
Chromosomal Location46559155-46574533 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 46560334 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 229 (Q229K)
Ref Sequence ENSEMBL: ENSMUSP00000066239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036030] [ENSMUST00000070084]
Predicted Effect probably benign
Transcript: ENSMUST00000036030
SMART Domains Protein: ENSMUSP00000043660
Gene: ENSMUSG00000033184

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
EMP24_GP25L 36 188 1.1e-45 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000070084
AA Change: Q229K

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000066239
Gene: ENSMUSG00000056130
AA Change: Q229K

DomainStartEndE-ValueType
Pfam:TIR_2 78 192 2e-10 PFAM
Meta Mutation Damage Score 0.0732 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.7%
  • 20x: 65.9%
Validation Efficiency 89% (66/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TIRP is a Toll/interleukin-1 receptor (IL1R; MIM 147810) (TIR) domain-containing adaptor protein involved in Toll receptor signaling (see TLR4; MIM 603030).[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous inactivation of this gene affects TLR4-mediated immune responses. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfn1 A G 11: 89,391,676 S1061P possibly damaging Het
Atp9b A G 18: 80,765,803 S634P probably damaging Het
Bche A T 3: 73,701,321 N257K possibly damaging Het
Bms1 A T 6: 118,405,229 D449E probably benign Het
C630050I24Rik G T 8: 107,119,394 V59F unknown Het
Camkk2 C T 5: 122,742,198 E452K probably damaging Het
Ccdc121 T C 1: 181,510,553 Y278C probably damaging Het
Chd9 A G 8: 90,933,537 H375R possibly damaging Het
Entpd7 T A 19: 43,725,294 V364E probably benign Het
Epb41l3 A T 17: 69,253,397 D313V probably damaging Het
Etv6 G T 6: 134,248,534 E154* probably null Het
Fshr T G 17: 88,988,457 H274P probably damaging Het
G3bp1 A G 11: 55,498,041 N360D probably benign Het
Gdf11 C T 10: 128,886,425 R187H probably benign Het
Gm5346 A T 8: 43,625,503 C561* probably null Het
Gpihbp1 T A 15: 75,597,133 I52N probably damaging Het
H1foo G T 6: 115,946,973 probably benign Het
Htt T C 5: 34,826,078 probably benign Het
Iqcm A G 8: 75,753,386 Q324R probably benign Het
Kcng3 A G 17: 83,587,756 L427P probably damaging Het
Klk7 T C 7: 43,812,010 L17P possibly damaging Het
Klrd1 G A 6: 129,593,775 V50I probably benign Het
Lama5 A T 2: 180,187,106 probably benign Het
Lamtor3 T A 3: 137,926,950 probably benign Het
Lyplal1 G A 1: 186,088,566 T228I probably benign Het
Mapk6 A G 9: 75,388,816 Y467H possibly damaging Het
March6 T C 15: 31,467,734 T776A possibly damaging Het
Mogat1 T G 1: 78,523,770 M157R probably damaging Het
Morc2b T A 17: 33,138,759 Q13L possibly damaging Het
Myo1h C T 5: 114,330,212 T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 probably null Het
Nobox A G 6: 43,304,919 C407R probably benign Het
Nupl1 A G 14: 60,239,475 probably null Het
Olfr684 A G 7: 105,157,122 S187P probably benign Het
Otoa A G 7: 121,131,347 Y590C probably benign Het
Pelp1 A T 11: 70,393,832 V1070E unknown Het
Pglyrp3 G T 3: 92,025,804 probably benign Het
Plpp2 A G 10: 79,527,229 F189S probably damaging Het
Polr2b T C 5: 77,334,535 I640T possibly damaging Het
Ryr2 T A 13: 11,669,038 T3047S probably damaging Het
Snx25 A T 8: 46,038,513 W847R probably damaging Het
Son T C 16: 91,678,155 Y454H possibly damaging Het
Sos1 A T 17: 80,413,621 N923K probably damaging Het
Tex15 A G 8: 33,582,027 H2534R probably benign Het
Tnfaip3 A T 10: 19,005,293 V342E probably damaging Het
Traf6 A G 2: 101,697,151 I415M possibly damaging Het
Trpm1 A G 7: 64,243,586 D1062G probably damaging Het
Wdr59 C T 8: 111,480,607 probably benign Het
Other mutations in Ticam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Ticam2 APN 18 46560813 missense probably benign 0.04
Branch UTSW 18 46560651 missense probably damaging 1.00
Consequential UTSW 18 46560779 missense probably damaging 1.00
Messi UTSW 18 46560922 nonsense probably null
R0056:Ticam2 UTSW 18 46560334 missense possibly damaging 0.61
R0666:Ticam2 UTSW 18 46560651 missense probably damaging 1.00
R1676:Ticam2 UTSW 18 46560610 missense probably damaging 1.00
R2209:Ticam2 UTSW 18 46560400 missense probably damaging 1.00
R4927:Ticam2 UTSW 18 46560779 missense probably damaging 1.00
R4928:Ticam2 UTSW 18 46560922 nonsense probably null
R6841:Ticam2 UTSW 18 46560931 missense probably benign 0.02
R7489:Ticam2 UTSW 18 46560517 missense probably damaging 1.00
Z1177:Ticam2 UTSW 18 46560848 missense possibly damaging 0.85
Posted On2013-03-25