Incidental Mutation 'R4351:Tm2d3'
ID 328510
Institutional Source Beutler Lab
Gene Symbol Tm2d3
Ensembl Gene ENSMUSG00000078681
Gene Name TM2 domain containing 3
Synonyms 5930422O05Rik, 1110025I09Rik
MMRRC Submission 041106-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4351 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 65343204-65351650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65344939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 49 (Y49C)
Ref Sequence ENSEMBL: ENSMUSP00000146320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032726] [ENSMUST00000032728] [ENSMUST00000065574] [ENSMUST00000107495] [ENSMUST00000129166] [ENSMUST00000143508] [ENSMUST00000206628] [ENSMUST00000206517] [ENSMUST00000206934]
AlphaFold Q8BJ83
Predicted Effect probably damaging
Transcript: ENSMUST00000032726
AA Change: Y47C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032726
Gene: ENSMUSG00000078681
AA Change: Y47C

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:TM2 165 214 5.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000032728
SMART Domains Protein: ENSMUSP00000032728
Gene: ENSMUSG00000030515

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
coiled coil region 44 68 N/A INTRINSIC
Pfam:TGS 151 210 8.8e-14 PFAM
tRNA_SAD 316 365 1.26e-16 SMART
Pfam:tRNA-synt_2b 464 675 2.2e-35 PFAM
Pfam:HGTP_anticodon 687 778 1.1e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000065574
AA Change: Y78C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064967
Gene: ENSMUSG00000078681
AA Change: Y78C

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:TM2 196 245 6.3e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107495
AA Change: Y78C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103119
Gene: ENSMUSG00000078681
AA Change: Y78C

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:TM2 196 245 5e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129166
AA Change: Y78C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000143508
AA Change: Y38C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116848
Gene: ENSMUSG00000078681
AA Change: Y38C

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000206837
AA Change: Y72C
Predicted Effect probably damaging
Transcript: ENSMUST00000206628
AA Change: Y49C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000206361
AA Change: Y21C
Predicted Effect probably damaging
Transcript: ENSMUST00000206517
AA Change: Y69C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000206934
Meta Mutation Damage Score 0.2013 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Aak1 A G 6: 86,912,519 (GRCm39) probably null Het
Abtb2 T A 2: 103,513,738 (GRCm39) D382E possibly damaging Het
Adamts1 T A 16: 85,599,234 (GRCm39) D122V probably benign Het
Adcy6 A T 15: 98,502,041 (GRCm39) V191E probably benign Het
Adh1 A G 3: 137,986,258 (GRCm39) T82A probably benign Het
Ak6 C T 13: 100,792,111 (GRCm39) Q185* probably null Het
Aldh6a1 A G 12: 84,490,535 (GRCm39) Y27H probably benign Het
Apob A G 12: 8,043,054 (GRCm39) M812V probably benign Het
Arhgef10 C A 8: 15,041,145 (GRCm39) S748* probably null Het
Brd3 A T 2: 27,347,028 (GRCm39) Y369N probably damaging Het
Cracdl A G 1: 37,663,993 (GRCm39) F635S probably benign Het
Dhh A G 15: 98,796,099 (GRCm39) probably benign Het
Disp1 A G 1: 182,881,542 (GRCm39) V200A probably benign Het
Dvl3 T C 16: 20,344,394 (GRCm39) Y257H possibly damaging Het
Dzip1 T C 14: 119,120,938 (GRCm39) D673G probably benign Het
Evx1 A G 6: 52,290,846 (GRCm39) D6G probably damaging Het
Garin1b C G 6: 29,320,800 (GRCm39) I141M probably damaging Het
Gfy T C 7: 44,827,040 (GRCm39) E352G probably benign Het
Hars2 A G 18: 36,919,231 (GRCm39) E123G probably damaging Het
Hsd17b4 A T 18: 50,275,701 (GRCm39) D115V probably damaging Het
Lyn G A 4: 3,789,796 (GRCm39) R443H probably damaging Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Nckap1l A G 15: 103,395,246 (GRCm39) T909A probably damaging Het
Ncor1 A G 11: 62,301,644 (GRCm39) probably null Het
Nrp2 A G 1: 62,777,576 (GRCm39) D127G probably damaging Het
Or2v2 A G 11: 49,004,530 (GRCm39) S8P probably damaging Het
Or8g52 T A 9: 39,630,865 (GRCm39) M114K probably damaging Het
Prb1b T G 6: 132,290,624 (GRCm39) Y25S unknown Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Rabgap1 A G 2: 37,373,794 (GRCm39) T269A probably benign Het
Rnf31 AAC A 14: 55,838,555 (GRCm39) probably null Het
Sptbn5 T C 2: 119,913,680 (GRCm39) noncoding transcript Het
Sst A G 16: 23,708,565 (GRCm39) S89P probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Wdr81 A G 11: 75,332,638 (GRCm39) L1921P probably damaging Het
Other mutations in Tm2d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Tm2d3 APN 7 65,344,970 (GRCm39) nonsense probably null
IGL02312:Tm2d3 APN 7 65,348,917 (GRCm39) critical splice donor site probably null
topple UTSW 7 65,348,872 (GRCm39) missense probably damaging 1.00
R0115:Tm2d3 UTSW 7 65,345,082 (GRCm39) intron probably benign
R0265:Tm2d3 UTSW 7 65,347,582 (GRCm39) missense possibly damaging 0.60
R2143:Tm2d3 UTSW 7 65,344,987 (GRCm39) missense probably damaging 1.00
R4072:Tm2d3 UTSW 7 65,347,498 (GRCm39) nonsense probably null
R4074:Tm2d3 UTSW 7 65,347,498 (GRCm39) nonsense probably null
R4075:Tm2d3 UTSW 7 65,347,498 (GRCm39) nonsense probably null
R4076:Tm2d3 UTSW 7 65,347,498 (GRCm39) nonsense probably null
R4966:Tm2d3 UTSW 7 65,347,469 (GRCm39) missense possibly damaging 0.81
R5381:Tm2d3 UTSW 7 65,351,420 (GRCm39) missense probably damaging 1.00
R5571:Tm2d3 UTSW 7 65,348,872 (GRCm39) missense probably damaging 1.00
R5621:Tm2d3 UTSW 7 65,351,366 (GRCm39) missense probably damaging 1.00
R6819:Tm2d3 UTSW 7 65,347,526 (GRCm39) missense probably damaging 1.00
R7168:Tm2d3 UTSW 7 65,343,674 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAAACCCTCTTAGATTGCAGGTG -3'
(R):5'- TACATCATAGCGCTGACCAGTAG -3'

Sequencing Primer
(F):5'- TAGATTGCAGGTGTCACTGACCC -3'
(R):5'- GACCAGTAGAGGCTACGCTTTTAATG -3'
Posted On 2015-07-07