Incidental Mutation 'R8108:Tm2d1'
ID 630718
Institutional Source Beutler Lab
Gene Symbol Tm2d1
Ensembl Gene ENSMUSG00000028563
Gene Name TM2 domain containing 1
Synonyms 2310026L18Rik, Bbp
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R8108 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 98355370-98383306 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98375023 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 83 (C83S)
Ref Sequence ENSEMBL: ENSMUSP00000099855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030292] [ENSMUST00000030292] [ENSMUST00000030292] [ENSMUST00000102793] [ENSMUST00000107051]
AlphaFold Q99MB3
Predicted Effect probably null
Transcript: ENSMUST00000030292
SMART Domains Protein: ENSMUSP00000030292
Gene: ENSMUSG00000028563

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:TM2 113 162 4.6e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000030292
SMART Domains Protein: ENSMUSP00000030292
Gene: ENSMUSG00000028563

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:TM2 113 162 4.6e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000030292
SMART Domains Protein: ENSMUSP00000030292
Gene: ENSMUSG00000028563

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: C83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099855
Gene: ENSMUSG00000028563
AA Change: C83S

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: C35S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102666
Gene: ENSMUSG00000028563
AA Change: C35S

DomainStartEndE-ValueType
Pfam:TM2 70 119 1e-21 PFAM
Predicted Effect
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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 97.3%
Validation Efficiency 99% (72/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T A 12: 84,017,361 H414Q probably benign Het
Actrt2 A T 4: 154,667,036 D214E probably benign Het
Ccdc7a T C 8: 128,980,153 T332A unknown Het
Chd9 C T 8: 90,933,224 H271Y unknown Het
Depdc5 T G 5: 32,945,049 D966E probably benign Het
Dolpp1 A G 2: 30,396,246 Y119C probably benign Het
Dscam G C 16: 96,643,879 D1537E probably benign Het
Dusp16 A G 6: 134,739,873 I157T probably benign Het
Dyrk2 T C 10: 118,859,829 D508G probably benign Het
Endov T C 11: 119,507,411 V334A probably benign Het
Ep400 A T 5: 110,687,883 V1956E unknown Het
Erich3 A T 3: 154,720,115 Y83F possibly damaging Het
Fbrsl1 T C 5: 110,378,379 probably null Het
Gm1110 T C 9: 26,920,661 I65V probably damaging Het
Gm28374 A G 19: 6,082,200 V19A Het
Gm436 A T 4: 144,670,669 N164K probably benign Het
Gpr107 C A 2: 31,184,869 H336Q probably damaging Het
Gpr137b T C 13: 13,359,406 Y355C Het
Grm1 C A 10: 10,720,132 R584L probably benign Het
Gse1 T C 8: 120,229,810 S347P unknown Het
Ier3ip1 T A 18: 76,940,525 I69K possibly damaging Het
Impact T G 18: 12,984,331 L154V probably benign Het
Katnb1 T C 8: 95,093,945 F141S possibly damaging Het
Kifap3 T A 1: 163,797,362 N162K probably damaging Het
Klhl5 A G 5: 65,148,587 probably null Het
Klre1 A G 6: 129,584,222 D182G probably benign Het
Krt42 T A 11: 100,266,957 Y227F probably benign Het
Lhcgr T A 17: 88,742,050 K683* probably null Het
Lrrc37a G A 11: 103,503,057 S514F probably benign Het
Lrrc9 G T 12: 72,454,059 L186F probably damaging Het
Metrn A G 17: 25,795,030 V274A probably benign Het
Mettl25 A T 10: 105,823,179 F414L possibly damaging Het
Mixl1 A G 1: 180,696,702 V104A probably damaging Het
Myo9b T A 8: 71,348,342 M1047K probably damaging Het
Nbea G A 3: 55,819,315 A2081V probably benign Het
Ndufs1 A T 1: 63,150,012 D551E possibly damaging Het
Nectin3 T C 16: 46,464,121 T67A possibly damaging Het
Nme8 C T 13: 19,650,960 V519I probably benign Het
Npat G T 9: 53,571,129 G1379V probably benign Het
Obscn T A 11: 59,061,634 T3870S probably benign Het
Olfr1000 T C 2: 85,608,749 R54G possibly damaging Het
Olfr1288 T C 2: 111,479,234 V150A possibly damaging Het
Olfr177 T C 16: 58,872,236 M305V probably benign Het
Olfr379-ps1 T A 11: 73,433,854 H124L unknown Het
Olfr871 T A 9: 20,212,451 M34K possibly damaging Het
Olfr910 A G 9: 38,539,410 N172D probably damaging Het
Parp8 A T 13: 116,867,073 Y769* probably null Het
Pcnx C T 12: 81,918,819 R59* probably null Het
Pdzd2 G A 15: 12,373,506 S2181L probably benign Het
Phldb1 T C 9: 44,711,161 E65G probably damaging Het
Ppif C T 14: 25,698,326 T157M probably damaging Het
Ppp3ca T A 3: 136,932,225 probably null Het
Proser1 T A 3: 53,472,088 probably null Het
Reg3d T A 6: 78,376,079 K174* probably null Het
Rubcn A T 16: 32,856,950 L55Q probably damaging Het
Sec14l3 T C 11: 4,066,198 L39P probably damaging Het
Ska3 A G 14: 57,826,102 I4T probably damaging Het
Slc30a10 A G 1: 185,464,154 I338V possibly damaging Het
Slc35g1 C G 19: 38,402,829 S186R probably damaging Het
Slc35g1 T A 19: 38,402,831 L187H probably damaging Het
Spata5 T C 3: 37,431,782 S218P probably benign Het
Tbc1d5 T C 17: 50,742,086 I659V probably benign Het
Tbl3 G T 17: 24,700,916 D751E probably benign Het
Tdrd3 T A 14: 87,486,266 D311E possibly damaging Het
Tenm4 T C 7: 96,854,728 F1335S probably benign Het
Tnfrsf22 A T 7: 143,638,373 V192D unknown Het
Trpm6 A G 19: 18,811,790 T575A probably damaging Het
Uri1 T C 7: 37,981,673 D102G possibly damaging Het
Vmn2r1 T A 3: 64,103,050 C570S probably damaging Het
Vps13a C T 19: 16,640,787 V2906I probably damaging Het
Zfp472 T C 17: 32,978,003 Y351H possibly damaging Het
Zfp874a G T 13: 67,443,234 Y110* probably null Het
Zfp986 T A 4: 145,899,305 N178K 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
IGL03093:Tm2d1 APN 4 98380684 missense possibly damaging 0.62
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
R9200:Tm2d1 UTSW 4 98357963 missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TGCAGGACTTCCCATAACATTTC -3'
(R):5'- ACTGAACTAGATGGGCCATGAG -3'

Sequencing Primer
(F):5'- AGGACTTCCCATAACATTTCATTATC -3'
(R):5'- ATGAGCACATCTAAAACAGTATAGC -3'
Posted On 2020-06-30