Incidental Mutation 'IGL00823:Tspan2'
ID 14619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan2
Ensembl Gene ENSMUSG00000027858
Gene Name tetraspanin 2
Synonyms B230119D02Rik, 6330415F13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00823
Quality Score
Status
Chromosome 3
Chromosomal Location 102642086-102679626 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 102665549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029451] [ENSMUST00000119902] [ENSMUST00000196611] [ENSMUST00000197345]
AlphaFold Q922J6
Predicted Effect probably null
Transcript: ENSMUST00000029451
SMART Domains Protein: ENSMUSP00000029451
Gene: ENSMUSG00000027858

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

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
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: 77,026,381 (GRCm39) probably benign Het
Adam5 T C 8: 25,308,758 (GRCm39) E39G probably benign Het
Anapc7 G A 5: 122,571,540 (GRCm39) W205* probably null Het
Arhgap5 C T 12: 52,565,525 (GRCm39) T832I possibly damaging Het
Arhgef10 T A 8: 14,990,378 (GRCm39) probably benign Het
Atg5 A G 10: 44,239,040 (GRCm39) T274A probably benign Het
Baiap2l2 G T 15: 79,168,765 (GRCm39) probably benign Het
Brap T A 5: 121,803,290 (GRCm39) M146K probably damaging Het
Brpf1 T C 6: 113,298,847 (GRCm39) S1074P probably benign Het
Camta1 A C 4: 151,169,058 (GRCm39) I231R probably benign Het
Ccdc15 C T 9: 37,231,709 (GRCm39) G205D probably benign Het
Cd6 G T 19: 10,773,758 (GRCm39) probably benign Het
Cdh17 T G 4: 11,783,412 (GRCm39) S219R possibly damaging Het
Cgn G A 3: 94,674,519 (GRCm39) R873W probably damaging Het
Ctnna3 C T 10: 63,373,322 (GRCm39) P41L possibly damaging Het
Dmbt1 T C 7: 130,659,888 (GRCm39) W484R probably benign Het
Dmd A G X: 83,469,419 (GRCm39) probably null Het
Dnah17 C T 11: 117,937,987 (GRCm39) V3347I probably benign Het
Fgd5 T A 6: 91,965,440 (GRCm39) S400T possibly damaging Het
Kitl C A 10: 99,923,206 (GRCm39) probably benign Het
Lamc3 A T 2: 31,808,533 (GRCm39) D763V probably damaging Het
Lgmn T C 12: 102,364,435 (GRCm39) probably benign Het
Lpcat2 T G 8: 93,591,598 (GRCm39) W81G possibly damaging Het
Myh13 A G 11: 67,246,773 (GRCm39) I1165V probably benign Het
Nf1 A G 11: 79,456,343 (GRCm39) D599G probably damaging Het
Nin T C 12: 70,061,567 (GRCm39) N2099S probably benign Het
Nlrc4 T C 17: 74,754,985 (GRCm39) D77G probably benign Het
Otub1 A G 19: 7,181,416 (GRCm39) probably benign Het
Pabir2 A T X: 52,334,208 (GRCm39) C222S probably damaging Het
Pah A G 10: 87,406,193 (GRCm39) Y174C probably null Het
Rbbp5 G A 1: 132,417,444 (GRCm39) V88I probably damaging Het
Scn1a C T 2: 66,155,279 (GRCm39) R560H probably benign Het
Snx5 T C 2: 144,097,485 (GRCm39) I217V probably benign Het
Syne2 T C 12: 76,036,016 (GRCm39) S3769P probably damaging Het
Tent2 T C 13: 93,322,905 (GRCm39) T15A probably benign Het
Tmem255b T C 8: 13,507,054 (GRCm39) M261T probably benign Het
Top3b T C 16: 16,705,486 (GRCm39) I417T probably damaging Het
Ttn T C 2: 76,540,057 (GRCm39) T34310A possibly damaging Het
Ush2a G A 1: 188,643,640 (GRCm39) C4334Y possibly damaging Het
Wdpcp A G 11: 21,609,995 (GRCm39) D21G probably damaging Het
Yy2 A C X: 156,351,207 (GRCm39) D186E probably benign Het
Other mutations in Tspan2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02341:Tspan2 APN 3 102,672,529 (GRCm39) missense probably damaging 1.00
R0336:Tspan2 UTSW 3 102,642,343 (GRCm39) missense probably null 0.00
R0399:Tspan2 UTSW 3 102,666,701 (GRCm39) missense probably damaging 1.00
R1732:Tspan2 UTSW 3 102,676,193 (GRCm39) missense probably damaging 1.00
R5118:Tspan2 UTSW 3 102,657,151 (GRCm39) missense probably benign 0.17
R5229:Tspan2 UTSW 3 102,676,215 (GRCm39) missense probably damaging 1.00
R7085:Tspan2 UTSW 3 102,668,270 (GRCm39) missense probably benign 0.01
R7431:Tspan2 UTSW 3 102,657,107 (GRCm39) missense probably damaging 1.00
R8343:Tspan2 UTSW 3 102,676,226 (GRCm39) missense probably damaging 1.00
R9562:Tspan2 UTSW 3 102,672,583 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06