Incidental Mutation 'IGL02238:Tm2d2'
ID285987
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm2d2
Ensembl Gene ENSMUSG00000031556
Gene NameTM2 domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02238
Quality Score
Status
Chromosome8
Chromosomal Location25017211-25023260 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 25022771 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 212 (V212F)
Ref Sequence ENSEMBL: ENSMUSP00000033961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033961] [ENSMUST00000084031] [ENSMUST00000210536] [ENSMUST00000210758]
Predicted Effect probably benign
Transcript: ENSMUST00000033961
AA Change: V212F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033961
Gene: ENSMUSG00000031556
AA Change: V212F

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:TM2 145 194 1.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084031
SMART Domains Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
IB 37 112 5.44e-7 SMART
KAZAL 109 158 7.92e-4 SMART
Pfam:Trypsin 182 368 5.5e-15 PFAM
Pfam:Trypsin_2 208 346 2.1e-34 PFAM
PDZ 385 470 5.34e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210536
Predicted Effect probably benign
Transcript: ENSMUST00000210758
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. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 120,396,606 I1322N probably benign Het
Adamts1 A T 16: 85,795,825 M565K probably benign Het
Akr1b7 T A 6: 34,415,398 Y49N probably damaging Het
Cacna2d2 T A 9: 107,513,558 V363E probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh10 C T 15: 19,013,519 T735I probably damaging Het
Cds1 T A 5: 101,814,436 C306S possibly damaging Het
Clasp2 T C 9: 113,880,020 C644R probably damaging Het
Coil T C 11: 88,981,754 S314P probably benign Het
D630045J12Rik T A 6: 38,196,394 M280L probably benign Het
Dmxl2 C T 9: 54,445,433 V795M probably damaging Het
Dock10 A G 1: 80,533,793 V1533A probably damaging Het
Fbxo40 T C 16: 36,969,174 N525D possibly damaging Het
Fezf2 T C 14: 12,344,494 E231G probably damaging Het
Fmn1 T C 2: 113,582,125 V870A possibly damaging Het
Ifi44 A G 3: 151,732,382 *423Q probably null Het
Invs T C 4: 48,390,029 V173A probably damaging Het
Krt88 A G 15: 101,452,605 probably benign Het
Mctp2 A T 7: 72,090,205 Y812* probably null Het
Neto2 T C 8: 85,669,663 I118V probably damaging Het
Nutm2 T G 13: 50,471,039 M264R probably damaging Het
Olfr52 T C 2: 86,181,595 probably null Het
Olfr715 A G 7: 107,129,037 S119P probably damaging Het
Pcnx G A 12: 81,917,914 R285Q probably damaging Het
Pi16 G T 17: 29,326,295 K177N probably damaging Het
Pigg C T 5: 108,318,928 S225F possibly damaging Het
Prrc2b T A 2: 32,213,417 V969E probably damaging Het
Rab4b A C 7: 27,172,729 Y189D probably benign Het
Ran A G 5: 129,022,182 N143D possibly damaging Het
Rfc4 A T 16: 23,114,469 F286L probably damaging Het
Sel1l2 T C 2: 140,247,939 Y418C probably damaging Het
Slc13a1 T C 6: 24,103,483 I354V probably benign Het
Slc7a2 A T 8: 40,908,156 T386S probably benign Het
Tmem247 A T 17: 86,918,293 N54Y probably damaging Het
Txnrd3 T A 6: 89,656,135 Y206N probably benign Het
Uba5 T C 9: 104,054,060 probably benign Het
Vmn2r54 A G 7: 12,635,983 L51P probably damaging Het
Wdr66 T C 5: 123,302,423 Y1091H probably damaging Het
Zfp735 A G 11: 73,710,493 K88E probably benign Het
Other mutations in Tm2d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Tm2d2 APN 8 25020557 splice site probably benign
IGL01768:Tm2d2 APN 8 25018079 missense possibly damaging 0.69
R0420:Tm2d2 UTSW 8 25018114 missense probably damaging 1.00
R0514:Tm2d2 UTSW 8 25022726 missense possibly damaging 0.71
R0608:Tm2d2 UTSW 8 25020536 missense probably benign 0.00
R2001:Tm2d2 UTSW 8 25017507 missense probably benign 0.01
R2141:Tm2d2 UTSW 8 25022658 missense probably damaging 0.96
R3754:Tm2d2 UTSW 8 25020478 missense probably damaging 1.00
R5624:Tm2d2 UTSW 8 25022768 missense probably damaging 1.00
Posted On2015-04-16