Incidental Mutation 'R5118:Tspan2'
ID392726
Institutional Source Beutler Lab
Gene Symbol Tspan2
Ensembl Gene ENSMUSG00000027858
Gene Nametetraspanin 2
SynonymsB230119D02Rik, 6330415F13Rik
MMRRC Submission 042706-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5118 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location102734529-102801513 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 102749835 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 45 (D45E)
Ref Sequence ENSEMBL: ENSMUSP00000113803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029451] [ENSMUST00000119902] [ENSMUST00000196611]
Predicted Effect probably benign
Transcript: ENSMUST00000029451
AA Change: D49E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000029451
Gene: ENSMUSG00000027858
AA Change: D49E

DomainStartEndE-ValueType
Pfam:Tetraspannin 10 214 6.6e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119902
AA Change: D45E

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113803
Gene: ENSMUSG00000027858
AA Change: D45E

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

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 146 1.9e-29 PFAM
Meta Mutation Damage Score 0.0599 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 96% (52/54)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,164,546 E685* probably null Het
2700049A03Rik A T 12: 71,164,547 E685V possibly damaging Het
Adamts2 A G 11: 50,781,869 E648G probably damaging Het
Ankrd55 A G 13: 112,355,939 S187G probably benign Het
BC080695 T C 4: 143,571,127 L39P probably damaging Het
C87414 T A 5: 93,637,797 D208V probably benign Het
Cd44 C A 2: 102,865,370 E52D probably damaging Het
Col6a5 T A 9: 105,937,005 I603F unknown Het
Dmxl2 C A 9: 54,460,987 R233L probably damaging Het
Dopey1 T C 9: 86,506,259 F429L probably damaging Het
Epsti1 T G 14: 77,986,682 probably null Het
Erfe G T 1: 91,370,716 probably null Het
Galnt5 A G 2: 58,015,003 D526G probably damaging Het
Gm1330 T C 2: 149,002,986 probably benign Het
Gm6181 G A 7: 52,755,616 noncoding transcript Het
Irak2 T A 6: 113,665,811 V68D probably benign Het
Kdm1a A G 4: 136,557,358 probably benign Het
Kidins220 C A 12: 24,992,297 Q198K probably damaging Het
Lgr5 A G 10: 115,452,339 V728A possibly damaging Het
Micall2 G A 5: 139,716,447 T347M probably damaging Het
Mrap2 T C 9: 87,182,703 F166L possibly damaging Het
Msh3 A T 13: 92,309,434 probably benign Het
Mul1 T A 4: 138,439,349 L238Q probably damaging Het
Nuak1 G T 10: 84,374,984 H413Q probably benign Het
Olfr1408 T C 1: 173,130,917 Q100R possibly damaging Het
Pcnt C T 10: 76,412,168 A931T probably damaging Het
Pddc1 A T 7: 141,406,806 probably benign Het
Psmb4 T C 3: 94,884,942 Y223C probably damaging Het
Rbm15b G T 9: 106,886,102 A289E possibly damaging Het
Reg3b T A 6: 78,372,128 V79E probably damaging Het
Rsl1 A G 13: 67,181,981 I164M probably damaging Het
Rtp1 T C 16: 23,431,535 F217L probably benign Het
Sfmbt1 T C 14: 30,790,770 L360P probably damaging Het
Sorbs2 T C 8: 45,795,785 V611A probably damaging Het
Tenm4 T A 7: 96,893,086 D1935E probably damaging Het
Tep1 T C 14: 50,855,587 probably null Het
Tmppe T G 9: 114,405,481 S283A probably benign Het
Tmtc1 A G 6: 148,269,987 probably benign Het
Trp63 T C 16: 25,889,010 I552T unknown Het
Ubr1 T C 2: 120,882,264 E1396G probably benign Het
Usp17lc A T 7: 103,418,661 T388S probably benign Het
Wdr46 T C 17: 33,948,837 V508A possibly damaging Het
Zcchc11 T A 4: 108,520,292 D966E possibly damaging Het
Zfp462 T A 4: 55,010,667 Y878N probably damaging Het
Zfp703 C T 8: 26,979,205 P299L probably damaging Het
Zfp954 T A 7: 7,115,715 T277S probably benign Het
Other mutations in Tspan2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Tspan2 APN 3 102758233 critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TGCTTTCTTTCCTGGCAAGATATG -3'
(R):5'- AAATCAGTTTTCCTGGGGCC -3'

Sequencing Primer
(F):5'- CTTTCCTGGCAAGATATGAAGAGTAG -3'
(R):5'- CCTTCTTCTATCCTGGAGAGAGGAG -3'
Posted On2016-06-15