Incidental Mutation 'IGL02238:Tm2d2'
ID 285987
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm2d2
Ensembl Gene ENSMUSG00000031556
Gene Name TM2 domain containing 2
Synonyms 2410018G23Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02238
Quality Score
Status
Chromosome 8
Chromosomal Location 25507227-25513276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25512787 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8R0I4
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: 119,995,829 (GRCm39) I1322N probably benign Het
Adamts1 A T 16: 85,592,713 (GRCm39) M565K probably benign Het
Akr1b7 T A 6: 34,392,333 (GRCm39) Y49N probably damaging Het
Cacna2d2 T A 9: 107,390,757 (GRCm39) V363E probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh10 C T 15: 19,013,605 (GRCm39) T735I probably damaging Het
Cds1 T A 5: 101,962,302 (GRCm39) C306S possibly damaging Het
Cfap251 T C 5: 123,440,486 (GRCm39) Y1091H probably damaging Het
Clasp2 T C 9: 113,709,088 (GRCm39) C644R probably damaging Het
Coil T C 11: 88,872,580 (GRCm39) S314P probably benign Het
D630045J12Rik T A 6: 38,173,329 (GRCm39) M280L probably benign Het
Dmxl2 C T 9: 54,352,717 (GRCm39) V795M probably damaging Het
Dock10 A G 1: 80,511,510 (GRCm39) V1533A probably damaging Het
Fbxo40 T C 16: 36,789,536 (GRCm39) N525D possibly damaging Het
Fezf2 T C 14: 12,344,494 (GRCm38) E231G probably damaging Het
Fmn1 T C 2: 113,412,470 (GRCm39) V870A possibly damaging Het
Ifi44 A G 3: 151,438,019 (GRCm39) *423Q probably null Het
Invs T C 4: 48,390,029 (GRCm39) V173A probably damaging Het
Krt88 A G 15: 101,350,486 (GRCm39) probably benign Het
Mctp2 A T 7: 71,739,953 (GRCm39) Y812* probably null Het
Neto2 T C 8: 86,396,292 (GRCm39) I118V probably damaging Het
Nutm2 T G 13: 50,625,075 (GRCm39) M264R probably damaging Het
Or2d2 A G 7: 106,728,244 (GRCm39) S119P probably damaging Het
Or8u8 T C 2: 86,011,939 (GRCm39) probably null Het
Pcnx1 G A 12: 81,964,688 (GRCm39) R285Q probably damaging Het
Pi16 G T 17: 29,545,269 (GRCm39) K177N probably damaging Het
Pigg C T 5: 108,466,794 (GRCm39) S225F possibly damaging Het
Prrc2b T A 2: 32,103,429 (GRCm39) V969E probably damaging Het
Rab4b A C 7: 26,872,154 (GRCm39) Y189D probably benign Het
Ran A G 5: 129,099,246 (GRCm39) N143D possibly damaging Het
Rfc4 A T 16: 22,933,219 (GRCm39) F286L probably damaging Het
Sel1l2 T C 2: 140,089,859 (GRCm39) Y418C probably damaging Het
Slc13a1 T C 6: 24,103,482 (GRCm39) I354V probably benign Het
Slc7a2 A T 8: 41,361,193 (GRCm39) T386S probably benign Het
Tmem247 A T 17: 87,225,721 (GRCm39) N54Y probably damaging Het
Txnrd3 T A 6: 89,633,117 (GRCm39) Y206N probably benign Het
Uba5 T C 9: 103,931,259 (GRCm39) probably benign Het
Vmn2r54 A G 7: 12,369,910 (GRCm39) L51P probably damaging Het
Zfp735 A G 11: 73,601,319 (GRCm39) K88E probably benign Het
Other mutations in Tm2d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Tm2d2 APN 8 25,510,573 (GRCm39) splice site probably benign
IGL01768:Tm2d2 APN 8 25,508,095 (GRCm39) missense possibly damaging 0.69
BB003:Tm2d2 UTSW 8 25,510,480 (GRCm39) missense probably damaging 1.00
BB013:Tm2d2 UTSW 8 25,510,480 (GRCm39) missense probably damaging 1.00
R0420:Tm2d2 UTSW 8 25,508,130 (GRCm39) missense probably damaging 1.00
R0514:Tm2d2 UTSW 8 25,512,742 (GRCm39) missense possibly damaging 0.71
R0608:Tm2d2 UTSW 8 25,510,552 (GRCm39) missense probably benign 0.00
R2001:Tm2d2 UTSW 8 25,507,523 (GRCm39) missense probably benign 0.01
R2141:Tm2d2 UTSW 8 25,512,674 (GRCm39) missense probably damaging 0.96
R3754:Tm2d2 UTSW 8 25,510,494 (GRCm39) missense probably damaging 1.00
R5624:Tm2d2 UTSW 8 25,512,784 (GRCm39) missense probably damaging 1.00
R7651:Tm2d2 UTSW 8 25,507,316 (GRCm39) start gained probably benign
R7674:Tm2d2 UTSW 8 25,508,280 (GRCm39) nonsense probably null
R7926:Tm2d2 UTSW 8 25,510,480 (GRCm39) missense probably damaging 1.00
R8875:Tm2d2 UTSW 8 25,507,443 (GRCm39) missense possibly damaging 0.90
R9211:Tm2d2 UTSW 8 25,510,548 (GRCm39) nonsense probably null
Posted On 2015-04-16