Incidental Mutation 'IGL00587:Ticam2'
ID14462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ticam2
Ensembl Gene ENSMUSG00000056130
Gene Nametoll-like receptor adaptor molecule 2
SynonymsTirp, TRAM
Accession Numbers

NCBI RefSeq: NM_173394; MGI: 3040056

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00587
Quality Score
Status
Chromosome18
Chromosomal Location46559155-46574533 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46560813 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 69 (E69G)
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 probably benign
Transcript: ENSMUST00000070084
AA Change: E69G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000066239
Gene: ENSMUSG00000056130
AA Change: E69G

DomainStartEndE-ValueType
Pfam:TIR_2 78 192 2e-10 PFAM
Coding Region Coverage
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 A C 15: 97,245,446 M365R possibly damaging Het
Atat1 T C 17: 35,897,883 D352G probably benign Het
Bbs12 A G 3: 37,320,197 T265A probably damaging Het
Cd300c A T 11: 114,959,790 N62K probably benign Het
Cdk5rap3 A G 11: 96,913,399 S43P probably damaging Het
Chchd6 A T 6: 89,569,417 probably null Het
Cr2 C T 1: 195,154,251 R868Q possibly damaging Het
Cyp2d9 T C 15: 82,455,143 S126P possibly damaging Het
Dsg3 T A 18: 20,539,654 I794N probably damaging Het
Fga A T 3: 83,030,289 S158C possibly damaging Het
Gm14240 T C 2: 156,052,950 probably null Het
Itga1 C A 13: 115,012,249 V279L probably damaging Het
Kdm1b T C 13: 47,068,540 V485A probably benign Het
Mfap3l T C 8: 60,671,909 V395A probably benign Het
Nlrp14 T A 7: 107,181,767 V57E probably benign Het
P2ry12 A T 3: 59,217,882 I124K probably damaging Het
Paxip1 A G 5: 27,772,552 probably benign Het
Prkdc T C 16: 15,652,358 probably benign Het
Rab28 T C 5: 41,703,456 R52G probably benign Het
Rrp15 T C 1: 186,721,548 probably null Het
Sel1l2 G A 2: 140,243,944 L539F possibly damaging Het
Zcchc2 T A 1: 106,030,263 S821R probably benign Het
Zcchc4 T A 5: 52,816,169 S379T probably benign Het
Zfp53 T C 17: 21,508,338 V211A probably benign Het
Zmym2 T G 14: 56,903,360 S219A possibly damaging Het
Other mutations in Ticam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2012-12-06