Incidental Mutation 'IGL01338:Tm2d3'
ID74690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm2d3
Ensembl Gene ENSMUSG00000078681
Gene NameTM2 domain containing 3
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01338
Quality Score
Status
Chromosome7
Chromosomal Location65691169-65701913 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 65695222 bp
ZygosityHeterozygous
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]
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: ENSMUST00000206628
AA Change: C59*
Predicted Effect probably null
Transcript: ENSMUST00000206837
AA Change: C82*
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
1110004E09Rik T C 16: 90,926,048 N266S possibly damaging Het
Adam23 A G 1: 63,551,855 T494A possibly damaging Het
Adamts16 C T 13: 70,836,115 C143Y probably damaging Het
Cacna1i A G 15: 80,348,380 I195V probably damaging Het
Casp7 T C 19: 56,404,464 S17P probably benign Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpvl T A 6: 53,974,655 S48C possibly damaging Het
Cyp2b19 G T 7: 26,759,417 M138I probably benign Het
Dennd5a T C 7: 109,919,404 Y510C possibly damaging Het
Derl2 A G 11: 71,010,355 F229S possibly damaging Het
Dlec1 A G 9: 119,120,911 E452G probably damaging Het
Dsc2 T C 18: 20,047,157 K180E probably benign Het
Dus1l G A 11: 120,793,092 R177C possibly damaging Het
Egfr A G 11: 16,863,020 I167V probably damaging Het
Fam219b A T 9: 57,538,022 probably null Het
Fn1 T C 1: 71,626,210 E916G probably damaging Het
Gm2058 C T 7: 39,589,156 noncoding transcript Het
Gpd1 T A 15: 99,718,175 V22E probably damaging Het
Hsf2 T C 10: 57,501,379 F124L probably damaging Het
I0C0044D17Rik A G 4: 98,820,099 probably benign Het
Igfbp3 A T 11: 7,208,478 F262I possibly damaging Het
Klhl18 A G 9: 110,455,433 Y62H probably damaging Het
Lama2 C T 10: 27,188,272 E1238K probably benign Het
Man1b1 A G 2: 25,338,227 K170E probably benign Het
Mcrs1 A T 15: 99,249,501 I39N probably damaging Het
Mug2 T C 6: 122,049,628 probably benign Het
Neu3 C A 7: 99,813,422 G365W probably damaging Het
Nipal3 A C 4: 135,471,883 probably null Het
Nrxn3 A G 12: 89,255,034 I528V possibly damaging Het
Olfr122 A T 17: 37,771,839 H71L possibly damaging Het
Osbpl8 A G 10: 111,267,747 K204R probably damaging Het
Pax8 A G 2: 24,435,919 S318P possibly damaging Het
Pcdh18 T A 3: 49,756,141 N242Y probably damaging Het
Pkd1l2 T A 8: 117,059,520 K649* probably null Het
Ppm1n A T 7: 19,279,254 D257E probably benign Het
Pxdn A G 12: 30,002,797 E811G probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rreb1 T C 13: 37,931,034 C790R probably benign Het
Rtkn2 G T 10: 68,025,519 C258F possibly damaging Het
Scn11a G A 9: 119,784,161 probably benign Het
Snx8 G A 5: 140,358,096 R96C probably damaging Het
Syne2 A T 12: 76,060,226 T5649S possibly damaging Het
Tnpo2 T C 8: 85,040,526 L55P probably damaging Het
Tsc22d2 T C 3: 58,417,415 probably benign Het
Ttll3 T G 6: 113,394,729 V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 I86V probably benign Het
Vps13d G A 4: 145,088,322 T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 I753T probably damaging Het
Other mutations in Tm2d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02312:Tm2d3 APN 7 65699169 critical splice donor site probably null
R0115:Tm2d3 UTSW 7 65695334 intron probably benign
R0265:Tm2d3 UTSW 7 65697834 missense possibly damaging 0.60
R2143:Tm2d3 UTSW 7 65695239 missense probably damaging 1.00
R4072:Tm2d3 UTSW 7 65697750 nonsense probably null
R4074:Tm2d3 UTSW 7 65697750 nonsense probably null
R4075:Tm2d3 UTSW 7 65697750 nonsense probably null
R4076:Tm2d3 UTSW 7 65697750 nonsense probably null
R4351:Tm2d3 UTSW 7 65695191 missense probably damaging 1.00
R4966:Tm2d3 UTSW 7 65697721 missense possibly damaging 0.81
R5381:Tm2d3 UTSW 7 65701672 missense probably damaging 1.00
R5571:Tm2d3 UTSW 7 65699124 missense probably damaging 1.00
R5621:Tm2d3 UTSW 7 65701618 missense probably damaging 1.00
R6819:Tm2d3 UTSW 7 65697778 missense probably damaging 1.00
R7168:Tm2d3 UTSW 7 65693926 missense probably benign 0.00
Posted On2013-10-07