Incidental Mutation 'IGL01661:Spock2'
ID103158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spock2
Ensembl Gene ENSMUSG00000058297
Gene Namesparc/osteonectin, cwcv and kazal-like domains proteoglycan 2
SynonymsGcap26, testican-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01661
Quality Score
Status
Chromosome10
Chromosomal Location60106219-60135198 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 60123870 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 140 (H140Q)
Ref Sequence ENSEMBL: ENSMUSP00000127155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121820] [ENSMUST00000165024]
Predicted Effect probably damaging
Transcript: ENSMUST00000121820
AA Change: H140Q

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113115
Gene: ENSMUSG00000058297
AA Change: H140Q

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
KAZAL 135 180 2.42e-12 SMART
Pfam:SPARC_Ca_bdg 196 304 1.3e-32 PFAM
TY 333 379 5.76e-19 SMART
low complexity region 392 420 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138976
Predicted Effect probably damaging
Transcript: ENSMUST00000165024
AA Change: H140Q

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127155
Gene: ENSMUSG00000058297
AA Change: H140Q

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
KAZAL 135 180 2.42e-12 SMART
Pfam:SPARC_Ca_bdg 196 304 1.7e-34 PFAM
TY 333 379 5.76e-19 SMART
low complexity region 392 420 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198998
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,442,995 F1569L probably benign Het
Acly A G 11: 100,514,342 probably benign Het
Adgre5 T A 8: 83,727,935 N313I probably damaging Het
Ccdc17 A G 4: 116,597,866 H206R probably benign Het
Cenpo C T 12: 4,234,023 probably null Het
Galnt5 G T 2: 57,999,482 A365S probably benign Het
Josd1 G A 15: 79,677,127 P160L probably damaging Het
Lamc1 C A 1: 153,221,573 R1575L possibly damaging Het
Mrpl32 C T 13: 14,610,593 V153I probably benign Het
Mtor A G 4: 148,514,851 K1452R possibly damaging Het
Nob1 T C 8: 107,413,182 Y315C probably damaging Het
Olfr1066 T C 2: 86,455,502 I256M possibly damaging Het
Olfr48 T A 2: 89,844,095 M293L probably benign Het
Prex2 A G 1: 11,208,614 N1389S probably benign Het
Ptprd G A 4: 75,954,083 T1383M probably damaging Het
Ralbp1 A G 17: 65,861,389 L307P probably damaging Het
Sema4f A G 6: 82,918,055 probably benign Het
Slc2a3 A G 6: 122,729,956 V486A probably benign Het
Tmc4 A G 7: 3,666,927 I610T probably damaging Het
Tnc T C 4: 63,970,307 probably benign Het
Ttll8 T C 15: 88,935,999 probably benign Het
Other mutations in Spock2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Spock2 APN 10 60131387 missense unknown
IGL01534:Spock2 APN 10 60127061 splice site probably benign
R4978:Spock2 UTSW 10 60131089 missense probably benign 0.29
R5768:Spock2 UTSW 10 60126207 missense probably damaging 1.00
R7633:Spock2 UTSW 10 60126180 missense probably damaging 1.00
Posted On2014-01-21