Incidental Mutation 'IGL03093:Tm2d1'
ID 418452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm2d1
Ensembl Gene ENSMUSG00000028563
Gene Name TM2 domain containing 1
Synonyms 2310026L18Rik, Bbp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03093
Quality Score
Status
Chromosome 4
Chromosomal Location 98243607-98271523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98268921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 59 (C59S)
Ref Sequence ENSEMBL: ENSMUSP00000099855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030292] [ENSMUST00000102793] [ENSMUST00000107051]
AlphaFold Q99MB3
Predicted Effect possibly damaging
Transcript: ENSMUST00000030292
AA Change: C59S

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030292
Gene: ENSMUSG00000028563
AA Change: C59S

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:TM2 113 162 4.6e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102793
AA Change: C59S

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099855
Gene: ENSMUSG00000028563
AA Change: C59S

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:TM2 118 167 1.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107051
SMART Domains Protein: ENSMUSP00000102666
Gene: ENSMUSG00000028563

DomainStartEndE-ValueType
Pfam:TM2 70 119 1e-21 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000143116
AA Change: C57S
SMART Domains Protein: ENSMUSP00000121468
Gene: ENSMUSG00000028563
AA Change: C57S

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
transmembrane domain 84 106 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157923
Coding Region Coverage
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 a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 A G 19: 53,219,638 (GRCm39) D121G probably damaging Het
Cacna1s A G 1: 136,043,802 (GRCm39) D1380G probably benign Het
Clca3a1 T C 3: 144,453,262 (GRCm39) Y487C probably damaging Het
Coro2a A G 4: 46,544,158 (GRCm39) S278P possibly damaging Het
Creb3l3 A G 10: 80,927,047 (GRCm39) S128P probably benign Het
Dab2 A G 15: 6,465,892 (GRCm39) R697G probably damaging Het
Erap1 T C 13: 74,823,399 (GRCm39) F811S probably benign Het
Fam170b A G 14: 32,557,482 (GRCm39) S106G probably damaging Het
Galk2 T C 2: 125,771,563 (GRCm39) L196P probably damaging Het
Gan T C 8: 117,910,314 (GRCm39) M81T probably benign Het
Gemin2 A G 12: 59,068,511 (GRCm39) T197A probably benign Het
Hemgn A T 4: 46,396,504 (GRCm39) M244K probably benign Het
Htr6 A G 4: 138,789,080 (GRCm39) F325S probably damaging Het
Igkv9-120 A G 6: 68,027,398 (GRCm39) D104G probably damaging Het
Itpr2 A C 6: 146,281,008 (GRCm39) I216S probably damaging Het
Lingo1 T C 9: 56,526,748 (GRCm39) I614V possibly damaging Het
Mep1b C T 18: 21,226,710 (GRCm39) T524M probably benign Het
Mtif2 A G 11: 29,480,702 (GRCm39) probably benign Het
Mylk G A 16: 34,732,562 (GRCm39) R614H possibly damaging Het
Or2ag2 T C 7: 106,485,410 (GRCm39) T205A probably benign Het
Or52s19 T C 7: 103,007,446 (GRCm39) probably benign Het
Pabpc4 G A 4: 123,180,502 (GRCm39) D75N probably damaging Het
Paics T A 5: 77,109,355 (GRCm39) probably null Het
Prl T A 13: 27,248,870 (GRCm39) I172N probably benign Het
Ripk2 A G 4: 16,152,056 (GRCm39) S168P probably damaging Het
Siglecf T C 7: 43,001,865 (GRCm39) V225A probably damaging Het
Slc36a1 A G 11: 55,110,430 (GRCm39) I86V probably benign Het
Slc6a13 A G 6: 121,309,407 (GRCm39) Y306C probably damaging Het
Soat2 T A 15: 102,066,078 (GRCm39) L250Q probably damaging Het
Tex38 A G 4: 115,637,762 (GRCm39) S14P probably damaging Het
Tmco1 A G 1: 167,143,848 (GRCm39) D82G probably damaging Het
Tmem245 G A 4: 56,886,019 (GRCm39) R866W probably damaging Het
Tnip1 G T 11: 54,831,652 (GRCm39) Y7* probably null Het
Trp73 A G 4: 154,189,330 (GRCm39) M48T probably benign Het
Tslp T C 18: 32,948,612 (GRCm39) probably benign Het
Usp47 T C 7: 111,688,827 (GRCm39) F745L probably damaging Het
Vmn2r53 T A 7: 12,334,791 (GRCm39) T290S probably benign Het
Wdr1 T C 5: 38,718,472 (GRCm39) D30G probably benign Het
Zkscan2 T C 7: 123,094,073 (GRCm39) Y247C probably benign Het
Other mutations in Tm2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02411:Tm2d1 APN 4 98,268,911 (GRCm39) missense probably damaging 1.00
IGL02858:Tm2d1 APN 4 98,263,192 (GRCm39) missense probably damaging 1.00
R0413:Tm2d1 UTSW 4 98,253,810 (GRCm39) missense probably damaging 1.00
R1401:Tm2d1 UTSW 4 98,258,833 (GRCm39) intron probably benign
R5412:Tm2d1 UTSW 4 98,253,855 (GRCm39) missense probably damaging 1.00
R8108:Tm2d1 UTSW 4 98,263,260 (GRCm39) missense probably damaging 1.00
R9200:Tm2d1 UTSW 4 98,246,200 (GRCm39) missense possibly damaging 0.78
R9762:Tm2d1 UTSW 4 98,246,261 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02