Incidental Mutation 'IGL01124:Spock2'
ID 52135
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spock2
Ensembl Gene ENSMUSG00000058297
Gene Name sparc/osteonectin, cwcv and kazal-like domains proteoglycan 2
Synonyms Gcap26, testican-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01124
Quality Score
Status
Chromosome 10
Chromosomal Location 59942079-59971020 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59967209 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9ER58
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: 50,608,569 (GRCm39) I1477T probably damaging Het
Baat A G 4: 49,490,391 (GRCm39) I231T possibly damaging Het
Cactin T C 10: 81,160,184 (GRCm39) S426P possibly damaging Het
Cfh A T 1: 140,110,999 (GRCm39) F6I probably benign Het
Clec4a2 C T 6: 123,116,037 (GRCm39) probably benign Het
Col12a1 A G 9: 79,611,129 (GRCm39) S148P probably damaging Het
Cubn G T 2: 13,482,904 (GRCm39) Q281K possibly damaging Het
Cyp2c65 T A 19: 39,081,954 (GRCm39) probably benign Het
Dennd4b A T 3: 90,176,381 (GRCm39) T243S possibly damaging Het
Epha8 C T 4: 136,663,394 (GRCm39) G518D probably damaging Het
Fmo3 G A 1: 162,785,830 (GRCm39) R387C probably damaging Het
Foxo6 T C 4: 120,126,349 (GRCm39) T149A probably benign Het
Fthl17d T C X: 8,852,827 (GRCm39) E3G probably benign Het
Gm10521 A G 1: 171,724,010 (GRCm39) Y107C unknown Het
Ipo8 T A 6: 148,678,874 (GRCm39) E908V probably benign Het
Kcnd2 T C 6: 21,217,216 (GRCm39) S307P probably damaging Het
Klf3 A G 5: 64,974,123 (GRCm39) M3V possibly damaging Het
Ldb3 T A 14: 34,266,157 (GRCm39) E417D probably damaging Het
Lrch1 A T 14: 74,994,503 (GRCm39) D673E probably benign Het
Map3k4 T C 17: 12,474,087 (GRCm39) K865E probably benign Het
Muc4 G A 16: 32,589,104 (GRCm39) V754I possibly damaging Het
Nek4 A G 14: 30,692,219 (GRCm39) N223D probably benign Het
Nell2 G A 15: 95,194,060 (GRCm39) T551M probably damaging Het
Nup155 T A 15: 8,183,163 (GRCm39) M1241K probably damaging Het
Or2t49 A T 11: 58,393,020 (GRCm39) S121T possibly damaging Het
Or5i1 T C 2: 87,613,720 (GRCm39) F279L probably benign Het
Orc1 T C 4: 108,445,984 (GRCm39) probably benign Het
Pclo T C 5: 14,764,343 (GRCm39) I4272T unknown Het
Ppp1r12c A G 7: 4,500,344 (GRCm39) probably benign Het
Prcp A G 7: 92,559,416 (GRCm39) E160G probably benign Het
Prl3d3 G A 13: 27,343,090 (GRCm39) R92Q possibly damaging Het
Prl6a1 T A 13: 27,500,347 (GRCm39) M106K possibly damaging Het
Slc22a1 T A 17: 12,869,749 (GRCm39) probably benign Het
Slco3a1 A G 7: 73,934,295 (GRCm39) Y626H probably damaging Het
Smtn A G 11: 3,476,326 (GRCm39) probably null Het
Snx30 T C 4: 59,886,404 (GRCm39) probably benign Het
Trem3 T G 17: 48,556,829 (GRCm39) L100R probably damaging Het
Trpm2 A T 10: 77,781,659 (GRCm39) probably benign Het
Ubr1 T C 2: 120,745,386 (GRCm39) M901V probably benign Het
Usp28 T A 9: 48,948,513 (GRCm39) S873T probably damaging Het
Vmn1r86 T C 7: 12,836,856 (GRCm39) I7V probably benign Het
Xirp2 T C 2: 67,338,959 (GRCm39) L400P probably damaging Het
Other mutations in Spock2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Spock2 APN 10 59,962,883 (GRCm39) splice site probably benign
IGL01661:Spock2 APN 10 59,959,692 (GRCm39) missense probably damaging 0.97
R4978:Spock2 UTSW 10 59,966,911 (GRCm39) missense probably benign 0.29
R5768:Spock2 UTSW 10 59,962,029 (GRCm39) missense probably damaging 1.00
R7633:Spock2 UTSW 10 59,962,002 (GRCm39) missense probably damaging 1.00
R7966:Spock2 UTSW 10 59,957,554 (GRCm39) missense possibly damaging 0.81
R8326:Spock2 UTSW 10 59,962,777 (GRCm39) missense probably damaging 1.00
R9308:Spock2 UTSW 10 59,965,556 (GRCm39) missense possibly damaging 0.71
R9490:Spock2 UTSW 10 59,961,641 (GRCm39) missense probably benign 0.04
Posted On 2013-06-21