Incidental Mutation 'IGL01781:Spon2'
ID153932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spon2
Ensembl Gene ENSMUSG00000037379
Gene Namespondin 2, extracellular matrix protein
SynonymsM-spondin, 2310045I24Rik, Mindin
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.279) question?
Stock #IGL01781
Quality Score
Status
Chromosome5
Chromosomal Location33198184-33218455 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33215560 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 266 (D266G)
Ref Sequence ENSEMBL: ENSMUSP00000042701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046186] [ENSMUST00000201475]
Predicted Effect probably benign
Transcript: ENSMUST00000046186
AA Change: D266G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000042701
Gene: ENSMUSG00000037379
AA Change: D266G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Spond_N 40 234 2.3e-79 PFAM
TSP1 279 330 4.48e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201199
Predicted Effect probably benign
Transcript: ENSMUST00000201475
SMART Domains Protein: ENSMUSP00000144416
Gene: ENSMUSG00000037379

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Spond_N 40 179 2.4e-50 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene have an essentially normal phenotype. There is some alteration in succeptibility to bacterial infection however. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,399,280 I3618N probably damaging Het
Acss1 A G 2: 150,637,872 L305P probably damaging Het
Alox12e A T 11: 70,321,456 L132Q probably damaging Het
Atp6v0a4 T C 6: 38,074,160 N428D possibly damaging Het
Ccdc80 C T 16: 45,126,130 H811Y probably damaging Het
Cgn T C 3: 94,773,205 M596V probably benign Het
Cpn1 T A 19: 43,966,218 E323V possibly damaging Het
Cul9 A G 17: 46,539,304 S447P probably benign Het
Cyp2f2 A T 7: 27,130,421 Y182F probably benign Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Eri3 T C 4: 117,564,677 F51L probably benign Het
Fgd5 A G 6: 91,988,717 S486G possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm13101 C A 4: 143,965,729 C234F probably benign Het
Ifna4 T C 4: 88,842,152 S98P probably damaging Het
Impg2 A G 16: 56,252,225 K340R probably benign Het
Man2b2 T C 5: 36,813,745 N759S possibly damaging Het
Mfsd1 A G 3: 67,587,911 probably benign Het
Olfr716 T A 7: 107,147,696 C127S probably damaging Het
Pdcd6ip G T 9: 113,691,498 N139K probably damaging Het
Peak1 A T 9: 56,260,065 I193N possibly damaging Het
Psg27 T A 7: 18,565,064 T111S probably damaging Het
Ptprs G A 17: 56,435,676 L489F probably damaging Het
Rpgrip1l A G 8: 91,270,218 V76A probably benign Het
Scd1 A T 19: 44,400,348 M221K possibly damaging Het
Slc38a7 A G 8: 95,843,758 probably null Het
Spry4 C T 18: 38,590,425 G95D probably damaging Het
Supt20 A G 3: 54,695,205 M1V probably null Het
Tmem55a T C 4: 14,893,566 L143S probably damaging Het
Trappc11 A C 8: 47,514,128 F404V possibly damaging Het
Vmn1r178 C A 7: 23,894,009 Q161K probably damaging Het
Vmn2r25 T C 6: 123,839,365 E419G possibly damaging Het
Vstm5 A G 9: 15,257,672 H146R probably damaging Het
Other mutations in Spon2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01557:Spon2 APN 5 33216703 missense probably damaging 1.00
IGL02533:Spon2 APN 5 33214598 missense probably damaging 1.00
R1557:Spon2 UTSW 5 33216764 missense probably damaging 1.00
R1711:Spon2 UTSW 5 33216385 missense probably damaging 1.00
R4728:Spon2 UTSW 5 33217338 missense probably benign 0.01
R4793:Spon2 UTSW 5 33214560 missense probably damaging 0.99
R4961:Spon2 UTSW 5 33214552 nonsense probably null
R6930:Spon2 UTSW 5 33216427 missense probably benign
R7067:Spon2 UTSW 5 33214614 missense probably damaging 1.00
R7643:Spon2 UTSW 5 33217456 missense probably benign 0.00
R7727:Spon2 UTSW 5 33215675 missense probably damaging 1.00
Posted On2014-02-04