Incidental Mutation 'IGL02411:Tm2d1'
ID 292281
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 # IGL02411
Quality Score
Status
Chromosome 4
Chromosomal Location 98243607-98271523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98268911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 62 (P62Q)
Ref Sequence ENSEMBL: ENSMUSP00000099855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030292] [ENSMUST00000102793] [ENSMUST00000107051]
AlphaFold Q99MB3
Predicted Effect probably damaging
Transcript: ENSMUST00000030292
AA Change: P62Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030292
Gene: ENSMUSG00000028563
AA Change: P62Q

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: P62Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099855
Gene: ENSMUSG00000028563
AA Change: P62Q

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: P60Q
SMART Domains Protein: ENSMUSP00000121468
Gene: ENSMUSG00000028563
AA Change: P60Q

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,459 (GRCm39) E65G probably benign Het
Abcc8 G A 7: 45,756,431 (GRCm39) R1425C probably damaging Het
Adcy3 A T 12: 4,259,407 (GRCm39) probably null Het
AI661453 T G 17: 47,778,263 (GRCm39) probably benign Het
Arhgef10 A T 8: 15,004,819 (GRCm39) Y445F probably benign Het
Atrx G T X: 104,874,587 (GRCm39) S1924R possibly damaging Het
Clca3a1 T C 3: 144,733,763 (GRCm39) T58A possibly damaging Het
Clec1b A G 6: 129,378,804 (GRCm39) Y97C probably damaging Het
Cobll1 A G 2: 64,928,084 (GRCm39) S1080P probably damaging Het
Crb1 C A 1: 139,176,213 (GRCm39) C529F probably damaging Het
Crim1 C T 17: 78,642,763 (GRCm39) R494* probably null Het
Cyp3a25 A T 5: 145,938,257 (GRCm39) probably benign Het
Dntt T A 19: 41,041,424 (GRCm39) probably null Het
Gjb1 T C X: 100,428,611 (GRCm39) C280R probably damaging Het
Glp1r T A 17: 31,143,485 (GRCm39) C174S probably damaging Het
Gm5414 A T 15: 101,536,269 (GRCm39) Y119N probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Gm9796 G T 11: 95,588,756 (GRCm39) noncoding transcript Het
Gm9956 T C 10: 56,621,388 (GRCm39) F17L unknown Het
Il1rap A T 16: 26,529,366 (GRCm39) D396V probably damaging Het
Impa1 T C 3: 10,388,018 (GRCm39) K135E possibly damaging Het
Iqub G A 6: 24,449,810 (GRCm39) A685V probably damaging Het
Jade3 T C X: 20,379,063 (GRCm39) V512A probably benign Het
Kif3a C A 11: 53,461,525 (GRCm39) P57T probably damaging Het
Kndc1 G T 7: 139,501,829 (GRCm39) probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Maged2 G T X: 149,592,755 (GRCm39) D343E probably benign Het
Magi2 T C 5: 19,883,707 (GRCm39) S120P probably damaging Het
Nxph3 A T 11: 95,401,656 (GRCm39) *253R probably null Het
Oog2 A T 4: 143,921,618 (GRCm39) H194L probably damaging Het
Pcbd2 T G 13: 55,880,764 (GRCm39) W7G probably benign Het
Pcdhb14 T G 18: 37,582,823 (GRCm39) L643R possibly damaging Het
Plch1 G T 3: 63,605,177 (GRCm39) probably null Het
Poln G T 5: 34,270,666 (GRCm39) S455* probably null Het
Ppp2r1a T C 17: 21,171,596 (GRCm39) probably benign Het
Rsu1 T G 2: 13,082,308 (GRCm39) probably benign Het
Serpina10 A T 12: 103,583,202 (GRCm39) M360K possibly damaging Het
Sox30 A T 11: 45,871,951 (GRCm39) K269* probably null Het
Thbs1 T C 2: 117,945,451 (GRCm39) V310A probably benign Het
Tie1 C A 4: 118,343,760 (GRCm39) E61* probably null Het
Tpp1 G T 7: 105,398,826 (GRCm39) P201Q probably damaging Het
Trim13 A G 14: 61,842,598 (GRCm39) E205G probably damaging Het
Other mutations in Tm2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02858:Tm2d1 APN 4 98,263,192 (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 2015-04-16