Incidental Mutation 'IGL01338:Tm2d3'
ID 74690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm2d3
Ensembl Gene ENSMUSG00000078681
Gene Name TM2 domain containing 3
Synonyms 5930422O05Rik, 1110025I09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01338
Quality Score
Status
Chromosome 7
Chromosomal Location 65343204-65351650 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 65344970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 82 (C82*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032726] [ENSMUST00000032728] [ENSMUST00000065574] [ENSMUST00000107495] [ENSMUST00000129166] [ENSMUST00000143508] [ENSMUST00000206517] [ENSMUST00000206628] [ENSMUST00000206934]
AlphaFold Q8BJ83
Predicted Effect probably null
Transcript: ENSMUST00000032726
AA Change: C57*
SMART Domains Protein: ENSMUSP00000032726
Gene: ENSMUSG00000078681
AA Change: C57*

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 null
Transcript: ENSMUST00000065574
AA Change: C88*
SMART Domains Protein: ENSMUSP00000064967
Gene: ENSMUSG00000078681
AA Change: C88*

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:TM2 196 245 6.3e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000107495
AA Change: C88*
SMART Domains Protein: ENSMUSP00000103119
Gene: ENSMUSG00000078681
AA Change: C88*

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:TM2 196 245 5e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000129166
AA Change: C88*
Predicted Effect probably null
Transcript: ENSMUST00000143508
AA Change: C48*
SMART Domains Protein: ENSMUSP00000116848
Gene: ENSMUSG00000078681
AA Change: C48*

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000206361
AA Change: C31*
Predicted Effect probably null
Transcript: ENSMUST00000206517
AA Change: C79*
Predicted Effect probably null
Transcript: ENSMUST00000206837
AA Change: C82*
Predicted Effect probably null
Transcript: ENSMUST00000206628
AA Change: C59*
Predicted Effect probably benign
Transcript: ENSMUST00000206934
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 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A G 1: 63,591,014 (GRCm39) T494A possibly damaging Het
Adamts16 C T 13: 70,984,234 (GRCm39) C143Y probably damaging Het
Cacna1i A G 15: 80,232,581 (GRCm39) I195V probably damaging Het
Casp7 T C 19: 56,392,896 (GRCm39) S17P probably benign Het
Cfap298 T C 16: 90,722,936 (GRCm39) N266S possibly damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpvl T A 6: 53,951,640 (GRCm39) S48C possibly damaging Het
Cyp2b19 G T 7: 26,458,842 (GRCm39) M138I probably benign Het
Dennd5a T C 7: 109,518,611 (GRCm39) Y510C possibly damaging Het
Derl2 A G 11: 70,901,181 (GRCm39) F229S possibly damaging Het
Dlec1 A G 9: 118,949,979 (GRCm39) E452G probably damaging Het
Dsc2 T C 18: 20,180,214 (GRCm39) K180E probably benign Het
Dus1l G A 11: 120,683,918 (GRCm39) R177C possibly damaging Het
Egfr A G 11: 16,813,020 (GRCm39) I167V probably damaging Het
Fam219b A T 9: 57,445,305 (GRCm39) probably null Het
Fn1 T C 1: 71,665,369 (GRCm39) E916G probably damaging Het
Gm2058 C T 7: 39,238,580 (GRCm39) noncoding transcript Het
Gpd1 T A 15: 99,616,056 (GRCm39) V22E probably damaging Het
Hsf2 T C 10: 57,377,475 (GRCm39) F124L probably damaging Het
I0C0044D17Rik A G 4: 98,708,336 (GRCm39) probably benign Het
Igfbp3 A T 11: 7,158,478 (GRCm39) F262I possibly damaging Het
Klhl18 A G 9: 110,284,501 (GRCm39) Y62H probably damaging Het
Lama2 C T 10: 27,064,268 (GRCm39) E1238K probably benign Het
Man1b1 A G 2: 25,228,239 (GRCm39) K170E probably benign Het
Mcrs1 A T 15: 99,147,382 (GRCm39) I39N probably damaging Het
Mug2 T C 6: 122,026,587 (GRCm39) probably benign Het
Neu3 C A 7: 99,462,629 (GRCm39) G365W probably damaging Het
Nipal3 A C 4: 135,199,194 (GRCm39) probably null Het
Nrxn3 A G 12: 89,221,804 (GRCm39) I528V possibly damaging Het
Or10al6 A T 17: 38,082,730 (GRCm39) H71L possibly damaging Het
Osbpl8 A G 10: 111,103,608 (GRCm39) K204R probably damaging Het
Pax8 A G 2: 24,325,931 (GRCm39) S318P possibly damaging Het
Pcdh18 T A 3: 49,710,590 (GRCm39) N242Y probably damaging Het
Pkd1l2 T A 8: 117,786,259 (GRCm39) K649* probably null Het
Ppm1n A T 7: 19,013,179 (GRCm39) D257E probably benign Het
Pxdn A G 12: 30,052,796 (GRCm39) E811G probably damaging Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Rreb1 T C 13: 38,115,010 (GRCm39) C790R probably damaging Het
Rtkn2 G T 10: 67,861,349 (GRCm39) C258F possibly damaging Het
Scn11a G A 9: 119,613,227 (GRCm39) probably benign Het
Snx8 G A 5: 140,343,851 (GRCm39) R96C probably damaging Het
Syne2 A T 12: 76,107,000 (GRCm39) T5649S possibly damaging Het
Tnpo2 T C 8: 85,767,155 (GRCm39) L55P probably damaging Het
Tsc22d2 T C 3: 58,324,836 (GRCm39) probably benign Het
Ttll3 T G 6: 113,371,690 (GRCm39) V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 (GRCm39) I86V probably benign Het
Vps13d G A 4: 144,814,892 (GRCm39) T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 (GRCm39) I753T probably damaging Het
Other mutations in Tm2d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4351:Tm2d3 UTSW 7 65,344,939 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-10-07