Incidental Mutation 'IGL01768:Tm2d2'
ID153980
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? Probably non essential (E-score: 0.131) question?
Stock #IGL01768
Quality Score
Status
Chromosome8
Chromosomal Location25017211-25023260 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 25018079 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 80 (V80L)
Ref Sequence ENSEMBL: ENSMUSP00000148091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033961] [ENSMUST00000084032] [ENSMUST00000084035] [ENSMUST00000207132] [ENSMUST00000208247] [ENSMUST00000210536] [ENSMUST00000210758]
Predicted Effect probably benign
Transcript: ENSMUST00000033961
AA Change: V80L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000033961
Gene: ENSMUSG00000031556
AA Change: V80L

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:TM2 145 194 1.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084032
SMART Domains Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Pep_M12B_propep 43 163 8.5e-36 PFAM
Pfam:Reprolysin_5 210 386 5.5e-20 PFAM
Pfam:Reprolysin_4 210 402 1.4e-11 PFAM
Pfam:Reprolysin 212 406 1e-67 PFAM
Pfam:Reprolysin_2 232 396 1.1e-12 PFAM
Pfam:Reprolysin_3 236 358 8.1e-19 PFAM
DISIN 423 499 8.7e-44 SMART
ACR 500 637 9.7e-75 SMART
EGF 643 674 9.9e-2 SMART
transmembrane domain 699 718 N/A INTRINSIC
low complexity region 753 787 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084035
SMART Domains Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Pep_M12B_propep 34 163 8.1e-31 PFAM
Pfam:Reprolysin_5 210 386 5.8e-22 PFAM
Pfam:Reprolysin_4 210 402 1.6e-13 PFAM
Pfam:Reprolysin 212 406 1.9e-73 PFAM
Pfam:Reprolysin_2 232 396 9.4e-15 PFAM
Pfam:Reprolysin_3 236 358 3.4e-19 PFAM
DISIN 423 499 1.71e-41 SMART
ACR 500 637 2.86e-72 SMART
EGF 643 674 2.03e1 SMART
transmembrane domain 699 718 N/A INTRINSIC
low complexity region 753 794 N/A INTRINSIC
low complexity region 808 826 N/A INTRINSIC
low complexity region 831 839 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207132
Predicted Effect probably benign
Transcript: ENSMUST00000208247
Predicted Effect probably benign
Transcript: ENSMUST00000210536
Predicted Effect possibly damaging
Transcript: ENSMUST00000210758
AA Change: V80L

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik A T 6: 73,468,916 L217M possibly damaging Het
Aifm3 T C 16: 17,506,277 V567A possibly damaging Het
Arnt T C 3: 95,491,016 probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Capn5 C T 7: 98,125,273 R570H probably damaging Het
Ccdc173 A T 2: 69,782,127 probably benign Het
Cdh9 A T 15: 16,778,225 D42V possibly damaging Het
Cdk17 T C 10: 93,208,261 S21P probably damaging Het
Cdkl3 T A 11: 52,025,917 F291I probably damaging Het
Clmn T C 12: 104,781,719 E523G probably damaging Het
Cyp4f14 A T 17: 32,908,002 I318N probably damaging Het
Daam1 T A 12: 71,989,885 F1068L probably benign Het
Ext2 A G 2: 93,791,110 probably benign Het
F5 T A 1: 164,176,345 F236L probably benign Het
Fat2 A G 11: 55,262,568 V3606A probably damaging Het
Gpam G A 19: 55,087,520 T220M probably benign Het
Hyal1 C A 9: 107,579,139 L342I probably damaging Het
Ilvbl C A 10: 78,583,293 P459T possibly damaging Het
Itga5 A G 15: 103,351,570 Y632H probably benign Het
Krt73 T C 15: 101,798,856 D299G probably benign Het
Lcp1 T C 14: 75,224,133 V522A probably benign Het
Lmo3 A G 6: 138,416,497 C53R probably damaging Het
Nsun7 T C 5: 66,278,700 V305A probably benign Het
Olfr1391 G A 11: 49,328,131 C240Y probably damaging Het
Olfr1427 A T 19: 12,099,039 I200N probably damaging Het
Olfr859 G A 9: 19,809,160 V281M possibly damaging Het
Oprm1 T C 10: 6,829,186 S196P probably damaging Het
Ovgp1 T C 3: 105,981,351 probably null Het
Pcdhb20 T C 18: 37,506,715 F765L possibly damaging Het
Ppp4r4 T C 12: 103,581,405 V3A probably benign Het
Ruvbl1 A G 6: 88,497,271 I419V probably benign Het
Scara5 T A 14: 65,689,775 C40* probably null Het
Siglec1 T C 2: 131,074,394 Q1212R probably benign Het
Slc31a1 G A 4: 62,388,036 probably null Het
Sparc G T 11: 55,405,243 N87K probably damaging Het
Tcf12 T C 9: 71,868,996 probably null Het
Timm44 A T 8: 4,266,860 F258I probably benign Het
Tpr A G 1: 150,444,448 D2249G possibly damaging Het
Trim50 G T 5: 135,363,882 G217V possibly damaging Het
Ugcg T C 4: 59,217,216 probably null Het
Vmn2r107 A T 17: 20,345,606 H61L probably benign Het
Zfp84 A G 7: 29,776,666 H261R probably benign Het
Zswim2 A T 2: 83,917,957 M293K probably benign Het
Other mutations in Tm2d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Tm2d2 APN 8 25020557 splice site probably benign
IGL02238:Tm2d2 APN 8 25022771 missense probably benign 0.00
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 On2014-02-04