Incidental Mutation 'IGL01124:Spock2'
ID52135
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 #IGL01124
Quality Score
Status
Chromosome10
Chromosomal Location60106219-60135198 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60131387 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 393 (D393G)
Ref Sequence ENSEMBL: ENSMUSP00000127155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121820] [ENSMUST00000165024]
Predicted Effect unknown
Transcript: ENSMUST00000121820
AA Change: D393G
SMART Domains Protein: ENSMUSP00000113115
Gene: ENSMUSG00000058297
AA Change: D393G

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 unknown
Transcript: ENSMUST00000165024
AA Change: D393G
SMART Domains Protein: ENSMUSP00000127155
Gene: ENSMUSG00000058297
AA Change: D393G

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 T C 10: 50,732,473 I1477T probably damaging Het
Baat A G 4: 49,490,391 I231T possibly damaging Het
Cactin T C 10: 81,324,350 S426P possibly damaging Het
Cfh A T 1: 140,183,261 F6I probably benign Het
Clec4a2 C T 6: 123,139,078 probably benign Het
Col12a1 A G 9: 79,703,847 S148P probably damaging Het
Cubn G T 2: 13,478,093 Q281K possibly damaging Het
Cyp2c65 T A 19: 39,093,510 probably benign Het
Dennd4b A T 3: 90,269,074 T243S possibly damaging Het
Epha8 C T 4: 136,936,083 G518D probably damaging Het
Fmo3 G A 1: 162,958,261 R387C probably damaging Het
Foxo6 T C 4: 120,269,152 T149A probably benign Het
Fthl17d T C X: 8,986,588 E3G probably benign Het
Gm10521 A G 1: 171,896,443 Y107C unknown Het
Ipo8 T A 6: 148,777,376 E908V probably benign Het
Kcnd2 T C 6: 21,217,217 S307P probably damaging Het
Klf3 A G 5: 64,816,780 M3V possibly damaging Het
Ldb3 T A 14: 34,544,200 E417D probably damaging Het
Lrch1 A T 14: 74,757,063 D673E probably benign Het
Map3k4 T C 17: 12,255,200 K865E probably benign Het
Muc4 G A 16: 32,768,730 V754I possibly damaging Het
Nek4 A G 14: 30,970,262 N223D probably benign Het
Nell2 G A 15: 95,296,179 T551M probably damaging Het
Nup155 T A 15: 8,153,679 M1241K probably damaging Het
Olfr152 T C 2: 87,783,376 F279L probably benign Het
Olfr331 A T 11: 58,502,194 S121T possibly damaging Het
Orc1 T C 4: 108,588,787 probably benign Het
Pclo T C 5: 14,714,329 I4272T unknown Het
Ppp1r12c A G 7: 4,497,345 probably benign Het
Prcp A G 7: 92,910,208 E160G probably benign Het
Prl3d3 G A 13: 27,159,107 R92Q possibly damaging Het
Prl6a1 T A 13: 27,316,364 M106K possibly damaging Het
Slc22a1 T A 17: 12,650,862 probably benign Het
Slco3a1 A G 7: 74,284,547 Y626H probably damaging Het
Smtn A G 11: 3,526,326 probably null Het
Snx30 T C 4: 59,886,404 probably benign Het
Trem3 T G 17: 48,249,801 L100R probably damaging Het
Trpm2 A T 10: 77,945,825 probably benign Het
Ubr1 T C 2: 120,914,905 M901V probably benign Het
Usp28 T A 9: 49,037,213 S873T probably damaging Het
Vmn1r86 T C 7: 13,102,929 I7V probably benign Het
Xirp2 T C 2: 67,508,615 L400P probably damaging Het
Other mutations in Spock2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Spock2 APN 10 60127061 splice site probably benign
IGL01661:Spock2 APN 10 60123870 missense probably damaging 0.97
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 On2013-06-21