Incidental Mutation 'IGL02858:Tm2d1'
ID 362041
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 # IGL02858
Quality Score
Status
Chromosome 4
Chromosomal Location 98243607-98271523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98263192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 100 (E100D)
Ref Sequence ENSEMBL: ENSMUSP00000030292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030292] [ENSMUST00000102793] [ENSMUST00000107051]
AlphaFold Q99MB3
Predicted Effect probably damaging
Transcript: ENSMUST00000030292
AA Change: E100D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030292
Gene: ENSMUSG00000028563
AA Change: E100D

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:TM2 113 162 4.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102793
AA Change: E105D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099855
Gene: ENSMUSG00000028563
AA Change: E105D

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:TM2 118 167 1.7e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107051
AA Change: E57D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102666
Gene: ENSMUSG00000028563
AA Change: E57D

DomainStartEndE-ValueType
Pfam:TM2 70 119 1e-21 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000125034
AA Change: E24D
Predicted Effect probably benign
Transcript: ENSMUST00000143116
SMART Domains Protein: ENSMUSP00000121468
Gene: ENSMUSG00000028563

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
transmembrane domain 84 106 N/A INTRINSIC
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,596,599 (GRCm39) V126A probably damaging Het
Akap9 T C 5: 4,119,130 (GRCm39) Y3546H possibly damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap45 C A 10: 79,853,768 (GRCm39) T94N probably benign Het
Arid1b T C 17: 5,392,166 (GRCm39) S1899P possibly damaging Het
Atad5 T A 11: 79,980,601 (GRCm39) V2E probably damaging Het
Calr A T 8: 85,571,528 (GRCm39) V155E probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cetn1 T C 18: 9,619,422 (GRCm39) probably benign Het
Chl1 A T 6: 103,618,949 (GRCm39) L6F probably damaging Het
Chrnb1 C T 11: 69,675,935 (GRCm39) V436I possibly damaging Het
Col4a4 T C 1: 82,506,204 (GRCm39) E292G unknown Het
Ddx56 A G 11: 6,217,667 (GRCm39) L18P probably damaging Het
Dhx36 A C 3: 62,384,797 (GRCm39) probably benign Het
Dnah5 A T 15: 28,453,358 (GRCm39) R4376S possibly damaging Het
Dnah6 T A 6: 73,185,582 (GRCm39) D113V probably benign Het
Dnah7a A G 1: 53,512,118 (GRCm39) probably benign Het
Dock7 T A 4: 98,833,442 (GRCm39) K1920* probably null Het
Dysf A G 6: 84,076,471 (GRCm39) D628G probably benign Het
Exoc3l2 A G 7: 19,229,109 (GRCm39) I176V probably benign Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Fzd4 C T 7: 89,057,162 (GRCm39) T403M probably damaging Het
Gpr171 A T 3: 59,005,288 (GRCm39) N162K probably benign Het
Impdh1 T A 6: 29,206,924 (GRCm39) K132* probably null Het
Itgb2l A T 16: 96,223,850 (GRCm39) W730R possibly damaging Het
Jmjd8 T C 17: 26,049,134 (GRCm39) F230S probably damaging Het
Krt72 G A 15: 101,690,556 (GRCm39) T232M probably damaging Het
Lpin3 T C 2: 160,740,540 (GRCm39) probably benign Het
Nup214 A C 2: 31,900,384 (GRCm39) probably benign Het
Or11g7 A T 14: 50,690,507 (GRCm39) probably benign Het
Or7d10 A G 9: 19,831,747 (GRCm39) M81V probably damaging Het
Or8c20 A G 9: 38,260,469 (GRCm39) Q24R probably benign Het
Or8g26 A G 9: 39,095,822 (GRCm39) Y113C probably damaging Het
Pdgfra T A 5: 75,355,635 (GRCm39) S1048R probably damaging Het
Sall3 G T 18: 81,012,728 (GRCm39) A1236E probably damaging Het
Sipa1 T C 19: 5,705,736 (GRCm39) T411A probably damaging Het
Thsd7a T G 6: 12,500,994 (GRCm39) D471A probably benign Het
Tmcc1 A G 6: 116,110,849 (GRCm39) V148A probably damaging Het
Tubgcp6 A T 15: 88,986,518 (GRCm39) Y19* probably null Het
Ubr3 A G 2: 69,783,203 (GRCm39) Y713C probably damaging Het
Uevld A G 7: 46,605,377 (GRCm39) V39A probably benign Het
Vmn2r28 A T 7: 5,484,003 (GRCm39) H732Q probably damaging Het
Zfp629 A T 7: 127,209,484 (GRCm39) F775Y probably damaging Het
Other mutations in Tm2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02411:Tm2d1 APN 4 98,268,911 (GRCm39) missense probably damaging 1.00
IGL03093:Tm2d1 APN 4 98,268,921 (GRCm39) missense possibly damaging 0.62
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 2015-12-18