Incidental Mutation 'R0101:Tctn2'
ID17905
Institutional Source Beutler Lab
Gene Symbol Tctn2
Ensembl Gene ENSMUSG00000029386
Gene Nametectonic family member 2
SynonymsTect2, 4432405B04Rik
MMRRC Submission 038387-MU
Accession Numbers

Genbank: NM_026486; MGI: 1915228

Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #R0101 (G1)
Quality Score
Status Validated
Chromosome5
Chromosomal Location124598749-124628771 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 124615294 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s):
Predicted Effect noncoding transcript
Transcript: ENSMUST00000100706
SMART Domains Protein: ENSMUSP00000098272
Gene: ENSMUSG00000029386

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:DUF1619 171 442 6.8e-75 PFAM
low complexity region 669 681 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130912
SMART Domains Protein: ENSMUSP00000114298
Gene: ENSMUSG00000029386

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:DUF1619 171 442 1.5e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185820
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 77.3%
  • 3x: 57.2%
  • 10x: 11.5%
  • 20x: 6.0%
Validation Efficiency 91% (20/22)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit open neural tubes, exencephaly, micropthalmia, cleft palate, preaxial polydactyly, ventricular septal defect, sight-sided stomach, absent floor plate, and cilia defects. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Lhcgr A G 17: 88,765,170 S150P probably damaging Het
Mtus2 T C 5: 148,083,035 S747P probably damaging Het
Rpn1 A G 6: 88,093,787 D213G possibly damaging Het
Spef2 T C 15: 9,713,108 T393A probably damaging Het
Taar2 G A 10: 23,941,495 R311H probably benign Het
Other mutations in Tctn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Tctn2 APN 5 124616528 exon noncoding transcript
IGL02154:Tctn2 APN 5 124608561 exon noncoding transcript
IGL02447:Tctn2 APN 5 124615253 exon noncoding transcript
3-1:Tctn2 UTSW 5 124615231 exon noncoding transcript
R0101:Tctn2 UTSW 5 124615294 splice site noncoding transcript
R1481:Tctn2 UTSW 5 124607763 exon noncoding transcript
R1764:Tctn2 UTSW 5 124619031 splice site noncoding transcript
R1865:Tctn2 UTSW 5 124619080 exon noncoding transcript
R4467:Tctn2 UTSW 5 124620189 exon noncoding transcript
R5390:Tctn2 UTSW 5 124624335 unclassified probably benign
R5884:Tctn2 UTSW 5 124603832 exon noncoding transcript
Posted On2013-03-25