Incidental Mutation 'IGL02858:Tm2d1'
ID362041
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm2d1
Ensembl Gene ENSMUSG00000028563
Gene NameTM2 domain containing 1
Synonyms2310026L18Rik, Bbp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #IGL02858
Quality Score
Status
Chromosome4
Chromosomal Location98355370-98383306 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 98374955 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 100 (E100D)
Ref Sequence ENSEMBL: ENSMUSP00000030292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030292] [ENSMUST00000102793] [ENSMUST00000107051]
Predicted Effect probably damaging
Transcript: ENSMUST00000030292
AA Change: E100D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030292
Gene: ENSMUSG00000028563
AA Change: E100D

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:TM2 113 162 4.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102793
AA Change: E105D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099855
Gene: ENSMUSG00000028563
AA Change: E105D

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:TM2 118 167 1.7e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107051
AA Change: E57D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102666
Gene: ENSMUSG00000028563
AA Change: E57D

DomainStartEndE-ValueType
Pfam:TM2 70 119 1e-21 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000125034
AA Change: E24D
Predicted Effect probably benign
Transcript: ENSMUST00000143116
SMART Domains Protein: ENSMUSP00000121468
Gene: ENSMUSG00000028563

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
transmembrane domain 84 106 N/A INTRINSIC
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 is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,769,034 V126A probably damaging Het
Akap9 T C 5: 4,069,130 Y3546H possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgap45 C A 10: 80,017,934 T94N probably benign Het
Arid1b T C 17: 5,341,891 S1899P possibly damaging Het
Atad5 T A 11: 80,089,775 V2E probably damaging Het
Calr A T 8: 84,844,899 V155E probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cetn1 T C 18: 9,619,422 probably benign Het
Chl1 A T 6: 103,641,988 L6F probably damaging Het
Chrnb1 C T 11: 69,785,109 V436I possibly damaging Het
Col4a4 T C 1: 82,528,483 E292G unknown Het
Ddx56 A G 11: 6,267,667 L18P probably damaging Het
Dhx36 A C 3: 62,477,376 probably benign Het
Dnah5 A T 15: 28,453,212 R4376S possibly damaging Het
Dnah6 T A 6: 73,208,599 D113V probably benign Het
Dnah7a A G 1: 53,472,959 probably benign Het
Dock7 T A 4: 98,945,205 K1920* probably null Het
Dysf A G 6: 84,099,489 D628G probably benign Het
Exoc3l2 A G 7: 19,495,184 I176V probably benign Het
Fcrl1 A G 3: 87,384,705 Y57C probably damaging Het
Fzd4 C T 7: 89,407,954 T403M probably damaging Het
Gpr171 A T 3: 59,097,867 N162K probably benign Het
Impdh1 T A 6: 29,206,925 K132* probably null Het
Itgb2l A T 16: 96,422,650 W730R possibly damaging Het
Jmjd8 T C 17: 25,830,160 F230S probably damaging Het
Krt72 G A 15: 101,782,121 T232M probably damaging Het
Lpin3 T C 2: 160,898,620 probably benign Het
Nup214 A C 2: 32,010,372 Het
Olfr740 A T 14: 50,453,050 probably benign Het
Olfr77 A G 9: 19,920,451 M81V probably damaging Het
Olfr898 A G 9: 38,349,173 Q24R probably benign Het
Olfr943 A G 9: 39,184,526 Y113C probably damaging Het
Pdgfra T A 5: 75,194,974 S1048R probably damaging Het
Sall3 G T 18: 80,969,513 A1236E probably damaging Het
Sipa1 T C 19: 5,655,708 T411A probably damaging Het
Thsd7a T G 6: 12,500,995 D471A probably benign Het
Tmcc1 A G 6: 116,133,888 V148A probably damaging Het
Tubgcp6 A T 15: 89,102,315 Y19* probably null Het
Ubr3 A G 2: 69,952,859 Y713C probably damaging Het
Uevld A G 7: 46,955,629 V39A probably benign Het
Vmn2r28 A T 7: 5,481,004 H732Q probably damaging Het
Zfp629 A T 7: 127,610,312 F775Y probably damaging Het
Other mutations in Tm2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02411:Tm2d1 APN 4 98380674 missense probably damaging 1.00
IGL03093:Tm2d1 APN 4 98380684 missense possibly damaging 0.62
R0413:Tm2d1 UTSW 4 98365573 missense probably damaging 1.00
R1401:Tm2d1 UTSW 4 98370596 intron probably benign
R5412:Tm2d1 UTSW 4 98365618 missense probably damaging 1.00
Posted On2015-12-18