Incidental Mutation 'IGL00823:Tspan2'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan2
Ensembl Gene ENSMUSG00000027858
Gene Nametetraspanin 2
SynonymsB230119D02Rik, 6330415F13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00823
Quality Score
Chromosomal Location102734529-102801513 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 102758233 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029451] [ENSMUST00000119902] [ENSMUST00000196611] [ENSMUST00000197345]
Predicted Effect probably null
Transcript: ENSMUST00000029451
SMART Domains Protein: ENSMUSP00000029451
Gene: ENSMUSG00000027858

Pfam:Tetraspannin 10 214 6.6e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119902
SMART Domains Protein: ENSMUSP00000113803
Gene: ENSMUSG00000027858

low complexity region 5 16 N/A INTRINSIC
Pfam:Tetraspannin 19 210 2.1e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000196611
SMART Domains Protein: ENSMUSP00000142964
Gene: ENSMUSG00000027858

Pfam:Tetraspannin 1 146 1.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197345
SMART Domains Protein: ENSMUSP00000142543
Gene: ENSMUSG00000027858

Pfam:Tetraspannin 3 87 1.5e-6 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice are viable and fertile with mild astrogliosis and microgliosis in the absence of axonal pathology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 76,878,534 probably benign Het
Adam5 T C 8: 24,818,742 E39G probably benign Het
Anapc7 G A 5: 122,433,477 W205* probably null Het
Arhgap5 C T 12: 52,518,742 T832I possibly damaging Het
Arhgef10 T A 8: 14,940,378 probably benign Het
Atg5 A G 10: 44,363,044 T274A probably benign Het
Baiap2l2 G T 15: 79,284,565 probably benign Het
Brap T A 5: 121,665,227 M146K probably damaging Het
Brpf1 T C 6: 113,321,886 S1074P probably benign Het
Camta1 A C 4: 151,084,601 I231R probably benign Het
Ccdc15 C T 9: 37,320,413 G205D probably benign Het
Cd6 G T 19: 10,796,394 probably benign Het
Cdh17 T G 4: 11,783,412 S219R possibly damaging Het
Cgn G A 3: 94,767,209 R873W probably damaging Het
Ctnna3 C T 10: 63,537,543 P41L possibly damaging Het
Dmbt1 T C 7: 131,058,158 W484R probably benign Het
Dmd A G X: 84,425,813 probably null Het
Dnah17 C T 11: 118,047,161 V3347I probably benign Het
Fam122b A T X: 53,245,331 C222S probably damaging Het
Fgd5 T A 6: 91,988,459 S400T possibly damaging Het
Kitl C A 10: 100,087,344 probably benign Het
Lamc3 A T 2: 31,918,521 D763V probably damaging Het
Lgmn T C 12: 102,398,176 probably benign Het
Lpcat2 T G 8: 92,864,970 W81G possibly damaging Het
Myh13 A G 11: 67,355,947 I1165V probably benign Het
Nf1 A G 11: 79,565,517 D599G probably damaging Het
Nin T C 12: 70,014,793 N2099S probably benign Het
Nlrc4 T C 17: 74,447,990 D77G probably benign Het
Otub1 A G 19: 7,204,051 probably benign Het
Pah A G 10: 87,570,331 Y174C probably null Het
Papd4 T C 13: 93,186,397 T15A probably benign Het
Rbbp5 G A 1: 132,489,706 V88I probably damaging Het
Scn1a C T 2: 66,324,935 R560H probably benign Het
Snx5 T C 2: 144,255,565 I217V probably benign Het
Syne2 T C 12: 75,989,242 S3769P probably damaging Het
Tmem255b T C 8: 13,457,054 M261T probably benign Het
Top3b T C 16: 16,887,622 I417T probably damaging Het
Ttn T C 2: 76,709,713 T34310A possibly damaging Het
Ush2a G A 1: 188,911,443 C4334Y possibly damaging Het
Wdpcp A G 11: 21,659,995 D21G probably damaging Het
Yy2 A C X: 157,568,211 D186E probably benign Het
Other mutations in Tspan2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02341:Tspan2 APN 3 102765213 missense probably damaging 1.00
R0336:Tspan2 UTSW 3 102735027 missense probably null 0.00
R0399:Tspan2 UTSW 3 102759385 missense probably damaging 1.00
R1732:Tspan2 UTSW 3 102768877 missense probably damaging 1.00
R5118:Tspan2 UTSW 3 102749835 missense probably benign 0.17
R5229:Tspan2 UTSW 3 102768899 missense probably damaging 1.00
R7085:Tspan2 UTSW 3 102760954 missense probably benign 0.01
R7431:Tspan2 UTSW 3 102749791 missense probably damaging 1.00
R8343:Tspan2 UTSW 3 102768910 missense probably damaging 1.00
Posted On2012-12-06