Incidental Mutation 'R5571:Tm2d3'
ID 435668
Institutional Source Beutler Lab
Gene Symbol Tm2d3
Ensembl Gene ENSMUSG00000078681
Gene Name TM2 domain containing 3
Synonyms 5930422O05Rik, 1110025I09Rik
MMRRC Submission 044395-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5571 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 65343204-65351650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65348872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 184 (N184D)
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 possibly damaging
Transcript: ENSMUST00000032726
AA Change: N162D

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032726
Gene: ENSMUSG00000078681
AA Change: N162D

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:TM2 165 214 5.1e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000065574
AA Change: N193D

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064967
Gene: ENSMUSG00000078681
AA Change: N193D

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:TM2 196 245 6.3e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107495
AA Change: N193D

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103119
Gene: ENSMUSG00000078681
AA Change: N193D

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 unknown
Transcript: ENSMUST00000206361
AA Change: N136D
Predicted Effect probably damaging
Transcript: ENSMUST00000206517
AA Change: N184D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000206628
Predicted Effect probably benign
Transcript: ENSMUST00000206934
Predicted Effect probably benign
Transcript: ENSMUST00000206837
Meta Mutation Damage Score 0.6475 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.9%
Validation Efficiency 100% (59/59)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A T 3: 59,784,640 (GRCm39) H371L probably damaging Het
Atad5 T C 11: 80,002,382 (GRCm39) V1058A probably benign Het
Baiap2l2 T C 15: 79,155,783 (GRCm39) H97R probably damaging Het
Bax A G 7: 45,111,315 (GRCm39) S184P probably damaging Het
Bsph1 T G 7: 13,184,840 (GRCm39) M1R probably null Het
Cbln2 A G 18: 86,731,273 (GRCm39) D27G probably benign Het
Cntnap3 G A 13: 65,051,572 (GRCm39) A28V probably damaging Het
Col6a3 C A 1: 90,715,938 (GRCm39) R1641L unknown Het
Dhrs3 T G 4: 144,620,134 (GRCm39) I17S probably benign Het
Ep300 T C 15: 81,527,418 (GRCm39) probably benign Het
Epb41 T C 4: 131,664,717 (GRCm39) probably benign Het
Fat4 A T 3: 39,064,423 (GRCm39) E4793V probably damaging Het
Fbxw22 T G 9: 109,232,156 (GRCm39) K80N probably damaging Het
Fbxw24 T C 9: 109,436,066 (GRCm39) E322G probably benign Het
Fcgbpl1 A G 7: 27,855,994 (GRCm39) D1927G probably damaging Het
Fndc7 T C 3: 108,763,724 (GRCm39) I639V possibly damaging Het
Folh1 T C 7: 86,383,328 (GRCm39) Y473C probably damaging Het
Foxb2 T A 19: 16,850,131 (GRCm39) M292L probably benign Het
Gapvd1 A G 2: 34,605,265 (GRCm39) S41P probably damaging Het
Gmds A T 13: 32,101,704 (GRCm39) probably null Het
Gp6 G T 7: 4,371,899 (GRCm39) A302D probably damaging Het
Hmgcr A T 13: 96,803,171 (GRCm39) M8K probably benign Het
Itpripl2 C T 7: 118,089,092 (GRCm39) R489Q probably damaging Het
Kmo T C 1: 175,474,760 (GRCm39) V175A possibly damaging Het
Lce1i C T 3: 92,684,988 (GRCm39) G63S unknown Het
Lrp1b T C 2: 41,298,354 (GRCm39) Q155R probably damaging Het
Mdm1 T C 10: 117,995,588 (GRCm39) S541P possibly damaging Het
Neto2 C T 8: 86,367,173 (GRCm39) D524N probably damaging Het
Oga T C 19: 45,765,445 (GRCm39) T121A probably benign Het
Or1j10 A G 2: 36,267,129 (GRCm39) T114A probably benign Het
Or2ak6 T A 11: 58,592,877 (GRCm39) F117I probably damaging Het
Or5bw2 T C 7: 6,573,824 (GRCm39) I278T possibly damaging Het
Or5h17 A T 16: 58,820,569 (GRCm39) I174L probably benign Het
Ppp4r1 C T 17: 66,110,856 (GRCm39) Q21* probably null Het
Ryr2 T A 13: 11,570,334 (GRCm39) T4930S possibly damaging Het
Scart2 T A 7: 139,829,036 (GRCm39) C232S probably damaging Het
Siae G A 9: 37,528,219 (GRCm39) G64D probably benign Het
Slc14a2 T C 18: 78,252,282 (GRCm39) M10V possibly damaging Het
Ssrp1 C G 2: 84,874,669 (GRCm39) D496E probably damaging Het
Steap2 A G 5: 5,725,912 (GRCm39) S371P probably damaging Het
Taf6l G A 19: 8,761,294 (GRCm39) R24W probably damaging Het
Tbkbp1 T C 11: 97,039,555 (GRCm39) Q118R probably damaging Het
Tln2 C T 9: 67,241,602 (GRCm39) G1001E possibly damaging Het
Tmprss2 A T 16: 97,392,071 (GRCm39) W131R probably null Het
Ube2d2a A G 18: 35,903,531 (GRCm39) probably benign Het
Unc13d A G 11: 115,954,480 (GRCm39) Y1043H probably benign Het
Usp34 T A 11: 23,407,975 (GRCm39) I2600K probably damaging Het
Vmn1r198 A G 13: 22,539,168 (GRCm39) Y218C probably damaging Het
Vmn2r8 T C 5: 108,950,106 (GRCm39) Y247C probably damaging Het
Wdr59 A T 8: 112,192,463 (GRCm39) N699K probably damaging Het
Zcchc2 T C 1: 105,951,402 (GRCm39) V579A probably benign Het
Zfhx3 A T 8: 109,682,623 (GRCm39) Q3354L unknown 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
R5621:Tm2d3 UTSW 7 65,351,366 (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'- GCTCTACATCCATCTTATAAATGGC -3'
(R):5'- AATCCCAGCATGTCAGTCAC -3'

Sequencing Primer
(F):5'- ACATCCATCTTATAAATGGCAAGAG -3'
(R):5'- TGTCAGTCACACCTCGGAAG -3'
Posted On 2016-10-24