Incidental Mutation 'IGL02703:Cd37'
ID 304199
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd37
Ensembl Gene ENSMUSG00000030798
Gene Name CD37 antigen
Synonyms Tspan26
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02703
Quality Score
Status
Chromosome 7
Chromosomal Location 44883056-44888539 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44884949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 186 (D186G)
Ref Sequence ENSEMBL: ENSMUSP00000147818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033060] [ENSMUST00000033063] [ENSMUST00000097216] [ENSMUST00000098461] [ENSMUST00000107801] [ENSMUST00000210078] [ENSMUST00000209779] [ENSMUST00000211373] [ENSMUST00000209478] [ENSMUST00000210372] [ENSMUST00000209343] [ENSMUST00000210226]
AlphaFold Q61470
Predicted Effect probably benign
Transcript: ENSMUST00000033060
SMART Domains Protein: ENSMUSP00000033060
Gene: ENSMUSG00000030796

DomainStartEndE-ValueType
TEA 36 107 4.84e-52 SMART
low complexity region 201 217 N/A INTRINSIC
PDB:3L15|B 218 445 1e-143 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000033063
AA Change: D211G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000033063
Gene: ENSMUSG00000030798
AA Change: D211G

DomainStartEndE-ValueType
Pfam:Tetraspannin 31 292 9.5e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097216
SMART Domains Protein: ENSMUSP00000103430
Gene: ENSMUSG00000030796

DomainStartEndE-ValueType
low complexity region 11 38 N/A INTRINSIC
Pfam:TEA 40 402 1.8e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098461
AA Change: D189G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000096061
Gene: ENSMUSG00000030798
AA Change: D189G

DomainStartEndE-ValueType
Pfam:Tetraspannin 10 270 3.5e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107801
SMART Domains Protein: ENSMUSP00000103431
Gene: ENSMUSG00000030796

DomainStartEndE-ValueType
TEA 36 107 4.84e-52 SMART
low complexity region 201 217 N/A INTRINSIC
PDB:3L15|B 218 445 1e-143 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209222
Predicted Effect probably benign
Transcript: ENSMUST00000210078
AA Change: D186G

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000209779
AA Change: D189G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000211373
AA Change: D189G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210000
Predicted Effect probably benign
Transcript: ENSMUST00000209478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209677
Predicted Effect probably benign
Transcript: ENSMUST00000210372
Predicted Effect probably benign
Transcript: ENSMUST00000209343
Predicted Effect probably benign
Transcript: ENSMUST00000210226
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. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced levels of IgG1 immunoglobulins and impaired antibody response to T cell dependent antigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,118,390 (GRCm39) Q60L probably damaging Het
AI593442 A C 9: 52,589,418 (GRCm39) L53R probably damaging Het
Bmp2 T G 2: 133,403,324 (GRCm39) S292A probably benign Het
Cenpf T C 1: 189,391,955 (GRCm39) I626V probably benign Het
Faim T A 9: 98,874,254 (GRCm39) S49T probably benign Het
Glrb T G 3: 80,758,300 (GRCm39) E371A probably benign Het
Kcne2 T C 16: 92,093,838 (GRCm39) S122P possibly damaging Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Or10v1 A G 19: 11,873,606 (GRCm39) T74A possibly damaging Het
Or2f1 T G 6: 42,721,010 (GRCm39) I13S possibly damaging Het
Or8k3 T A 2: 86,059,323 (GRCm39) probably benign Het
Pex1 C A 5: 3,665,120 (GRCm39) H573Q probably benign Het
Plxna1 A G 6: 89,333,925 (GRCm39) S235P probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Slc41a2 T C 10: 83,090,711 (GRCm39) K491R probably damaging Het
Sugct T G 13: 17,627,125 (GRCm39) T243P possibly damaging Het
Tnfaip3 G T 10: 18,882,780 (GRCm39) D212E probably damaging Het
Trim68 A G 7: 102,333,286 (GRCm39) V132A probably damaging Het
Other mutations in Cd37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Cd37 APN 7 44,885,603 (GRCm39) missense probably benign 0.01
Blocker UTSW 7 44,886,598 (GRCm39) missense probably damaging 0.98
R4888:Cd37 UTSW 7 44,883,359 (GRCm39) missense probably damaging 0.99
R6197:Cd37 UTSW 7 44,886,598 (GRCm39) missense probably damaging 0.98
R7048:Cd37 UTSW 7 44,887,888 (GRCm39) unclassified probably benign
R8140:Cd37 UTSW 7 44,887,959 (GRCm39) missense probably damaging 1.00
R8924:Cd37 UTSW 7 44,888,109 (GRCm39) missense probably damaging 1.00
R9051:Cd37 UTSW 7 44,886,622 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16