Incidental Mutation 'IGL03093:Tm2d1'
ID418452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm2d1
Ensembl Gene ENSMUSG00000028563
Gene NameTM2 domain containing 1
Synonyms2310026L18Rik, Bbp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #IGL03093
Quality Score
Status
Chromosome4
Chromosomal Location98355370-98383306 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 98380684 bp
ZygosityHeterozygous
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]
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: 53,231,207 D121G probably damaging Het
Cacna1s A G 1: 136,116,064 D1380G probably benign Het
Clca3a1 T C 3: 144,747,501 Y487C probably damaging Het
Coro2a A G 4: 46,544,158 S278P possibly damaging Het
Creb3l3 A G 10: 81,091,213 S128P probably benign Het
Dab2 A G 15: 6,436,411 R697G probably damaging Het
Erap1 T C 13: 74,675,280 F811S probably benign Het
Fam170b A G 14: 32,835,525 S106G probably damaging Het
Galk2 T C 2: 125,929,643 L196P probably damaging Het
Gan T C 8: 117,183,575 Het
Gemin2 A G 12: 59,021,725 T197A probably benign Het
Hemgn A T 4: 46,396,504 M244K probably benign Het
Htr6 A G 4: 139,061,769 F325S probably damaging Het
Igkv9-120 A G 6: 68,050,414 D104G probably damaging Het
Itpr2 A C 6: 146,379,510 I216S probably damaging Het
Lingo1 T C 9: 56,619,464 I614V possibly damaging Het
Mep1b C T 18: 21,093,653 T524M probably benign Het
Mtif2 A G 11: 29,530,702 probably benign Het
Mylk G A 16: 34,912,192 R614H possibly damaging Het
Olfr601 T C 7: 103,358,239 probably benign Het
Olfr706 T C 7: 106,886,203 T205A probably benign Het
Pabpc4 G A 4: 123,286,709 D75N probably damaging Het
Paics T A 5: 76,961,508 probably null Het
Prl T A 13: 27,064,887 I172N probably benign Het
Ripk2 A G 4: 16,152,056 S168P probably damaging Het
Siglecf T C 7: 43,352,441 V225A probably damaging Het
Slc36a1 A G 11: 55,219,604 I86V probably benign Het
Slc6a13 A G 6: 121,332,448 Y306C probably damaging Het
Soat2 T A 15: 102,157,643 L250Q probably damaging Het
Tex38 A G 4: 115,780,565 S14P probably damaging Het
Tmco1 A G 1: 167,316,279 D82G probably damaging Het
Tmem245 G A 4: 56,886,019 R866W probably damaging Het
Tnip1 G T 11: 54,940,826 Y7* probably null Het
Trp73 A G 4: 154,104,873 M48T probably benign Het
Tslp T C 18: 32,815,559 probably benign Het
Usp47 T C 7: 112,089,620 F745L probably damaging Het
Vmn2r53 T A 7: 12,600,864 T290S probably benign Het
Wdr1 T C 5: 38,561,129 D30G probably benign Het
Zkscan2 T C 7: 123,494,850 Y247C probably benign Het
Other mutations in Tm2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02411:Tm2d1 APN 4 98380674 missense probably damaging 1.00
IGL02858:Tm2d1 APN 4 98374955 missense probably damaging 1.00
R0413:Tm2d1 UTSW 4 98365573 missense probably damaging 1.00
R1401:Tm2d1 UTSW 4 98370596 intron probably benign
R5412:Tm2d1 UTSW 4 98365618 missense probably damaging 1.00
Posted On2016-08-02