Incidental Mutation 'R5535:Tmco2'
ID 434768
Institutional Source Beutler Lab
Gene Symbol Tmco2
Ensembl Gene ENSMUSG00000078577
Gene Name transmembrane and coiled-coil domains 2
Synonyms 1700028F16Rik
MMRRC Submission 043093-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5535 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 120962848-120966414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120963190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 103 (Q103L)
Ref Sequence ENSEMBL: ENSMUSP00000101875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106268]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000106268
AA Change: Q103L

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101875
Gene: ENSMUSG00000078577
AA Change: Q103L

DomainStartEndE-ValueType
Pfam:TMCCDC2 11 182 2.8e-97 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b C T 9: 118,977,474 (GRCm39) G403S probably damaging Het
Agbl2 G A 2: 90,640,350 (GRCm39) V699I probably benign Het
Amer2 AAGGAGGAGGAGGAG AAGGAGGAGGAG 14: 60,616,302 (GRCm39) probably benign Het
Bace2 A T 16: 97,214,625 (GRCm39) Q271L probably damaging Het
Btn2a2 T C 13: 23,662,445 (GRCm39) K493E probably benign Het
Ces3a T A 8: 105,778,196 (GRCm39) D222E probably benign Het
Ckap2l A G 2: 129,127,762 (GRCm39) C139R probably benign Het
Clip4 A G 17: 72,138,257 (GRCm39) H485R probably benign Het
Cntfr T A 4: 41,663,216 (GRCm39) D197V probably benign Het
Efcab5 A G 11: 77,042,747 (GRCm39) L2P probably damaging Het
Elmo2 A G 2: 165,152,132 (GRCm39) V163A possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Flrt2 A G 12: 95,747,200 (GRCm39) T513A probably benign Het
Gm10801 GT GTTTTT 2: 98,492,844 (GRCm39) probably null Het
Hectd1 A T 12: 51,849,109 (GRCm39) F332I probably damaging Het
Helz A G 11: 107,536,946 (GRCm39) D947G probably damaging Het
Hivep2 T A 10: 14,006,766 (GRCm39) D1121E probably benign Het
Hoxa13 GG GGCG 6: 52,237,520 (GRCm39) probably null Homo
Hoxd13 A T 2: 74,499,141 (GRCm39) Y163F probably damaging Het
Immt C A 6: 71,829,768 (GRCm39) P158Q probably null Het
Kcnh5 A G 12: 75,177,681 (GRCm39) S142P possibly damaging Het
Lnpep T G 17: 17,758,956 (GRCm39) H796P probably benign Het
Mfhas1 C A 8: 36,057,423 (GRCm39) R633S possibly damaging Het
Mmp25 A G 17: 23,863,734 (GRCm39) L32P probably benign Het
Myo15b A G 11: 115,772,127 (GRCm39) D299G probably damaging Het
Myo18b T C 5: 112,937,908 (GRCm39) E1739G probably damaging Het
Or8b44 T A 9: 38,410,294 (GRCm39) S110T probably benign Het
Parp9 A G 16: 35,777,195 (GRCm39) K147E probably damaging Het
Pcdha3 G T 18: 37,080,989 (GRCm39) R577L probably benign Het
Plod2 T A 9: 92,488,622 (GRCm39) I637N probably damaging Het
Polk T G 13: 96,632,005 (GRCm39) S243R probably damaging Het
Prag1 T C 8: 36,571,168 (GRCm39) S584P probably benign Het
Prex1 A T 2: 166,422,193 (GRCm39) V43E possibly damaging Het
Rdh10 T C 1: 16,201,408 (GRCm39) Y294H probably damaging Het
Rnf126 T A 10: 79,598,533 (GRCm39) I28F probably damaging Het
Sdk2 T A 11: 113,833,984 (GRCm39) H66L possibly damaging Het
Tet1 G T 10: 62,668,686 (GRCm39) P1431Q probably damaging Het
Ucp3 A T 7: 100,129,873 (GRCm39) R172W probably benign Het
Unc79 A T 12: 103,135,962 (GRCm39) I2270F possibly damaging Het
Other mutations in Tmco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02591:Tmco2 APN 4 120,962,987 (GRCm39) missense probably damaging 1.00
IGL03376:Tmco2 APN 4 120,966,249 (GRCm39) missense probably benign 0.13
R0556:Tmco2 UTSW 4 120,966,314 (GRCm39) missense probably damaging 1.00
R5386:Tmco2 UTSW 4 120,963,181 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTGCAGTAGGGTTCAGAG -3'
(R):5'- GATGTTCTGTTGAAGGGAAAGC -3'

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