Incidental Mutation 'IGL01557:Spon2'
ID90755
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: 0.405) question?
Stock #IGL01557
Quality Score
Status
Chromosome5
Chromosomal Location33198184-33218455 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 33216703 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 112 (A112V)
Ref Sequence ENSEMBL: ENSMUSP00000144416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046186] [ENSMUST00000201475]
Predicted Effect probably damaging
Transcript: ENSMUST00000046186
AA Change: A112V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000042701
Gene: ENSMUSG00000037379
AA Change: A112V

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 damaging
Transcript: ENSMUST00000201475
AA Change: A112V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144416
Gene: ENSMUSG00000037379
AA Change: A112V

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,968,720 probably null Het
Arl9 T G 5: 77,004,101 probably null Het
Ces3a C A 8: 105,057,751 T439K probably damaging Het
Cyp3a25 A G 5: 145,984,901 W408R probably damaging Het
Defb22 T G 2: 152,486,079 D62A possibly damaging Het
Dnah17 C T 11: 118,073,686 R2422Q probably damaging Het
Ehd3 A G 17: 73,805,280 K13R probably benign Het
Fndc1 T C 17: 7,756,389 E1406G probably damaging Het
Gak A C 5: 108,584,337 Y762D probably damaging Het
Igf2r A G 17: 12,704,635 S1187P possibly damaging Het
Ighmbp2 T C 19: 3,281,472 E68G probably benign Het
Itpr2 T C 6: 146,158,976 T2448A probably damaging Het
Lrrk2 T G 15: 91,699,989 C317W probably damaging Het
Morc1 T A 16: 48,498,766 S278T probably damaging Het
Mrps9 T C 1: 42,851,350 V20A probably benign Het
Nutm1 A T 2: 112,251,818 N304K probably benign Het
Olfr761 G A 17: 37,952,851 P58S probably damaging Het
Pcdhb9 T C 18: 37,403,047 V698A probably damaging Het
Pitrm1 C A 13: 6,552,684 D70E probably benign Het
Pkhd1 T C 1: 20,116,979 T3702A possibly damaging Het
Ppm1h A T 10: 122,782,181 probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptpn5 T C 7: 47,081,888 Y411C probably damaging Het
Zfp648 T A 1: 154,204,680 V195D probably benign Het
Other mutations in Spon2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01781:Spon2 APN 5 33215560 missense probably benign 0.09
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 On2013-12-09