Incidental Mutation 'R8875:Tm2d2'
ID 676524
Institutional Source Beutler Lab
Gene Symbol Tm2d2
Ensembl Gene ENSMUSG00000031556
Gene Name TM2 domain containing 2
Synonyms 2410018G23Rik
MMRRC Submission 068687-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8875 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 25507227-25513276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25507443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 20 (L20P)
Ref Sequence ENSEMBL: ENSMUSP00000033961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033961] [ENSMUST00000084032] [ENSMUST00000084035] [ENSMUST00000207132] [ENSMUST00000208247] [ENSMUST00000210536] [ENSMUST00000210758]
AlphaFold Q8R0I4
Predicted Effect possibly damaging
Transcript: ENSMUST00000033961
AA Change: L20P

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033961
Gene: ENSMUSG00000031556
AA Change: L20P

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 damaging
Transcript: ENSMUST00000210536
AA Change: L20P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210758
AA Change: L20P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4250 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (49/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010K14Rik A G 11: 70,126,380 (GRCm39) V140A Het
Ablim1 G T 19: 57,119,386 (GRCm39) H233N probably benign Het
Adra1a A T 14: 66,875,214 (GRCm39) Y63F possibly damaging Het
Ank3 A G 10: 69,660,233 (GRCm39) D245G unknown Het
Ap4e1 T C 2: 126,877,100 (GRCm39) I279T probably damaging Het
Bap1 T G 14: 30,975,522 (GRCm39) F122C probably damaging Het
Cdc5l T C 17: 45,703,915 (GRCm39) probably benign Het
Chd2 A T 7: 73,151,783 (GRCm39) I309N probably damaging Het
Cnpy3 T C 17: 47,048,185 (GRCm39) I177V probably damaging Het
Cp A G 3: 20,027,994 (GRCm39) K467E possibly damaging Het
D630039A03Rik T G 4: 57,910,320 (GRCm39) N164T probably benign Het
Dnah7a C A 1: 53,682,682 (GRCm39) A263S probably benign Het
Eif2s1 G A 12: 78,913,461 (GRCm39) R54Q probably damaging Het
Fasn A T 11: 120,703,224 (GRCm39) D1600E possibly damaging Het
Fat1 T A 8: 45,493,600 (GRCm39) F3915L probably damaging Het
Fiz1 A T 7: 5,012,093 (GRCm39) S142T probably benign Het
Fnip1 A G 11: 54,406,380 (GRCm39) Y1159C probably damaging Het
Fsip2 T A 2: 82,820,782 (GRCm39) V5505D possibly damaging Het
Gabrg3 A G 7: 56,379,514 (GRCm39) M296T probably damaging Het
Gm11562 A T 11: 99,511,177 (GRCm39) S8T unknown Het
Hoxd11 A G 2: 74,513,365 (GRCm39) D210G probably benign Het
Hsd17b2 T C 8: 118,469,101 (GRCm39) V171A possibly damaging Het
Ifi206 T C 1: 173,301,353 (GRCm39) Y775C unknown Het
Nherf2 T A 17: 24,866,703 (GRCm39) probably null Het
Nr2f1 A C 13: 78,337,970 (GRCm39) I382S probably damaging Het
Nrp1 T A 8: 129,207,472 (GRCm39) probably null Het
Or51l4 G A 7: 103,404,462 (GRCm39) S110F probably damaging Het
Or52h7 A G 7: 104,213,670 (GRCm39) T81A probably benign Het
Pdcd1 C T 1: 93,967,092 (GRCm39) D269N probably benign Het
Pira12 A G 7: 3,897,256 (GRCm39) S527P probably damaging Het
Plbd2 A G 5: 120,637,121 (GRCm39) Y114H probably damaging Het
Plch1 A G 3: 63,618,391 (GRCm39) C715R probably damaging Het
Plin4 G A 17: 56,411,010 (GRCm39) A1007V probably benign Het
Ptprs G T 17: 56,742,946 (GRCm39) P399T probably damaging Het
Pum1 T A 4: 130,507,186 (GRCm39) I1181N possibly damaging Het
Qrich1 A G 9: 108,436,502 (GRCm39) probably benign Het
Rbm12 T C 2: 155,938,841 (GRCm39) E477G probably damaging Het
Rpl7 T C 1: 16,173,753 (GRCm39) K57R probably benign Het
Spata31h1 G A 10: 82,123,476 (GRCm39) A3178V probably benign Het
Stab2 C T 10: 86,832,728 (GRCm39) C99Y probably damaging Het
Tas1r1 T A 4: 152,113,047 (GRCm39) T669S probably benign Het
Tle5 A T 10: 81,400,534 (GRCm39) I73F probably benign Het
Tmem158 G T 9: 123,089,132 (GRCm39) A160E possibly damaging Het
Tpst2 T A 5: 112,457,714 (GRCm39) Y347* probably null Het
Trpm3 T C 19: 22,887,493 (GRCm39) I876T probably damaging Het
Ttc6 T C 12: 57,751,199 (GRCm39) F1364L probably damaging Het
Ttc6 T A 12: 57,776,194 (GRCm39) S1713T possibly damaging Het
Vmn2r85 A G 10: 130,254,171 (GRCm39) S838P probably damaging Het
Zc2hc1c T C 12: 85,336,549 (GRCm39) S69P possibly damaging Het
Zfp982 C A 4: 147,595,320 (GRCm39) N47K 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
IGL02238:Tm2d2 APN 8 25,512,787 (GRCm39) missense probably benign 0.00
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
R9211:Tm2d2 UTSW 8 25,510,548 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCGTTTCTGATTGGCCGTAG -3'
(R):5'- GGCAGCTTACAGGTAAGAGC -3'

Sequencing Primer
(F):5'- CACGGGTTGGCTGTGGAAC -3'
(R):5'- CAAAGGATGACTGGCGAGTTG -3'
Posted On 2021-07-15