Incidental Mutation 'R5621:Tm2d3'
ID 441565
Institutional Source Beutler Lab
Gene Symbol Tm2d3
Ensembl Gene ENSMUSG00000078681
Gene Name TM2 domain containing 3
Synonyms 5930422O05Rik, 1110025I09Rik
MMRRC Submission 043279-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5621 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 65343204-65351650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 65351366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 207 (D207Y)
Ref Sequence ENSEMBL: ENSMUSP00000145534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032726] [ENSMUST00000065574] [ENSMUST00000107495] [ENSMUST00000129166] [ENSMUST00000143508] [ENSMUST00000206517] [ENSMUST00000206628] [ENSMUST00000206934]
AlphaFold Q8BJ83
Predicted Effect probably damaging
Transcript: ENSMUST00000032726
AA Change: D185Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032726
Gene: ENSMUSG00000078681
AA Change: D185Y

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:TM2 165 214 5.1e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000065574
AA Change: D216Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064967
Gene: ENSMUSG00000078681
AA Change: D216Y

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:TM2 196 245 6.3e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107495
AA Change: D216Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103119
Gene: ENSMUSG00000078681
AA Change: D216Y

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:TM2 196 245 5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129166
Predicted Effect probably benign
Transcript: ENSMUST00000143508
SMART Domains Protein: ENSMUSP00000116848
Gene: ENSMUSG00000078681

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206361
Predicted Effect probably damaging
Transcript: ENSMUST00000206517
AA Change: D207Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206628
Predicted Effect probably benign
Transcript: ENSMUST00000206934
Meta Mutation Damage Score 0.9597 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (63/64)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T G 17: 85,003,421 (GRCm39) L417R probably damaging Het
Adrm1b G A 3: 92,335,664 (GRCm39) A346V probably damaging Het
Als2 A G 1: 59,231,049 (GRCm39) V854A probably benign Het
Bbox1 C T 2: 110,122,868 (GRCm39) W140* probably null Het
Ccdc28a A T 10: 18,092,016 (GRCm39) N110K probably benign Het
Chrna6 C T 8: 27,897,068 (GRCm39) E270K probably damaging Het
Cilp A G 9: 65,186,073 (GRCm39) K723E possibly damaging Het
Ciz1 C A 2: 32,261,753 (GRCm39) A455E probably damaging Het
Csmd3 T G 15: 48,177,374 (GRCm39) H388P possibly damaging Het
Dnajc8 A G 4: 132,280,563 (GRCm39) probably benign Het
Dnase1 G T 16: 3,856,982 (GRCm39) C164F probably benign Het
Dync2h1 A T 9: 7,120,909 (GRCm39) I2126K possibly damaging Het
Epha4 G T 1: 77,491,686 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,430,175 (GRCm39) C201R probably damaging Het
Fgf8 T C 19: 45,730,821 (GRCm39) Y68C probably benign Het
Gabrb1 A T 5: 72,266,071 (GRCm39) I243F probably damaging Het
Gpam A C 19: 55,067,692 (GRCm39) S484A probably damaging Het
Hectd2 T A 19: 36,596,151 (GRCm39) N745K probably damaging Het
Hspa13 T C 16: 75,563,651 (GRCm39) probably benign Het
Ints2 A G 11: 86,133,773 (GRCm39) F426L probably benign Het
Ism1 A G 2: 139,520,641 (GRCm39) T18A probably damaging Het
Itih2 T A 2: 10,107,616 (GRCm39) Q650L probably benign Het
Jmjd4 T C 11: 59,341,219 (GRCm39) F50S probably damaging Het
Kif5b T C 18: 6,226,883 (GRCm39) N125S probably benign Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Lrfn1 A G 7: 28,166,261 (GRCm39) I552V probably damaging Het
Mcph1 A G 8: 18,682,186 (GRCm39) E441G probably damaging Het
Mdn1 T A 4: 32,716,371 (GRCm39) H2144Q possibly damaging Het
Mms19 A G 19: 41,954,752 (GRCm39) S56P probably benign Het
Mrgprb3 A G 7: 48,293,116 (GRCm39) I145T probably benign Het
Myh11 G A 16: 14,062,719 (GRCm39) T287I probably damaging Het
Npas2 A G 1: 39,398,794 (GRCm39) T730A probably benign Het
Or4c108 T C 2: 88,803,810 (GRCm39) I142V probably benign Het
Or4c15b G A 2: 89,112,697 (GRCm39) P281L probably damaging Het
Pcdhgb1 A G 18: 37,815,222 (GRCm39) E571G possibly damaging Het
Pcx T A 19: 4,669,195 (GRCm39) V731E possibly damaging Het
Pgm2 T A 5: 64,269,381 (GRCm39) Y489* probably null Het
Rrp12 T C 19: 41,868,856 (GRCm39) T541A probably benign Het
Ryr3 C T 2: 112,731,329 (GRCm39) W660* probably null Het
Sertad2 T A 11: 20,598,061 (GRCm39) F86I possibly damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc22a22 G T 15: 57,122,547 (GRCm39) F143L probably benign Het
Slc22a28 C T 19: 8,048,376 (GRCm39) V424I probably benign Het
Slc7a11 T G 3: 50,393,324 (GRCm39) K106N probably damaging Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Sphk1 C T 11: 116,427,192 (GRCm39) probably benign Het
Spock3 A T 8: 63,597,040 (GRCm39) T118S probably benign Het
Stk17b G T 1: 53,810,943 (GRCm39) S54* probably null Het
Sycp2 A G 2: 178,023,711 (GRCm39) I435T probably benign Het
Top2b A T 14: 16,387,280 (GRCm38) N123Y probably damaging Het
Unc80 A G 1: 66,677,202 (GRCm39) T2044A possibly damaging Het
Usp6nl A G 2: 6,445,243 (GRCm39) S407G probably benign Het
Vmn1r195 G A 13: 22,462,559 (GRCm39) V10I probably benign Het
Zfp292 C T 4: 34,811,703 (GRCm39) R447H probably damaging Het
Other mutations in Tm2d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Tm2d3 APN 7 65,344,970 (GRCm39) nonsense probably null
IGL02312:Tm2d3 APN 7 65,348,917 (GRCm39) critical splice donor site probably null
topple UTSW 7 65,348,872 (GRCm39) missense probably damaging 1.00
R0115:Tm2d3 UTSW 7 65,345,082 (GRCm39) intron probably benign
R0265:Tm2d3 UTSW 7 65,347,582 (GRCm39) missense possibly damaging 0.60
R2143:Tm2d3 UTSW 7 65,344,987 (GRCm39) missense probably damaging 1.00
R4072:Tm2d3 UTSW 7 65,347,498 (GRCm39) nonsense probably null
R4074:Tm2d3 UTSW 7 65,347,498 (GRCm39) nonsense probably null
R4075:Tm2d3 UTSW 7 65,347,498 (GRCm39) nonsense probably null
R4076:Tm2d3 UTSW 7 65,347,498 (GRCm39) nonsense probably null
R4351:Tm2d3 UTSW 7 65,344,939 (GRCm39) missense probably damaging 1.00
R4966:Tm2d3 UTSW 7 65,347,469 (GRCm39) missense possibly damaging 0.81
R5381:Tm2d3 UTSW 7 65,351,420 (GRCm39) missense probably damaging 1.00
R5571:Tm2d3 UTSW 7 65,348,872 (GRCm39) missense probably damaging 1.00
R6819:Tm2d3 UTSW 7 65,347,526 (GRCm39) missense probably damaging 1.00
R7168:Tm2d3 UTSW 7 65,343,674 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCAGCATAGCCGAAAATTGTGTG -3'
(R):5'- TCTACACTGCTCTCTGAAGCAC -3'

Sequencing Primer
(F):5'- GCCGAAAATTGTGTGTCCTTATTC -3'
(R):5'- TGCTCTCTGAAGCACATAACCTCG -3'
Posted On 2016-11-08