Incidental Mutation 'R9490:Spock2'
ID 716896
Institutional Source Beutler Lab
Gene Symbol Spock2
Ensembl Gene ENSMUSG00000058297
Gene Name sparc/osteonectin, cwcv and kazal-like domains proteoglycan 2
Synonyms Gcap26, testican-2
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9490 (G1)
Quality Score 224.009
Status Not validated
Chromosome 10
Chromosomal Location 59942079-59971020 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59961641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 195 (K195R)
Ref Sequence ENSEMBL: ENSMUSP00000113115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121820] [ENSMUST00000165024]
AlphaFold Q9ER58
Predicted Effect probably benign
Transcript: ENSMUST00000121820
AA Change: K195R

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113115
Gene: ENSMUSG00000058297
AA Change: K195R

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 probably benign
Transcript: ENSMUST00000165024
AA Change: K195R

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127155
Gene: ENSMUSG00000058297
AA Change: K195R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,834,601 (GRCm39) D167G probably benign Het
Arhgef37 G T 18: 61,641,907 (GRCm39) P154Q probably damaging Het
Chsy3 A T 18: 59,312,486 (GRCm39) S320C probably damaging Het
Col1a2 C A 6: 4,505,901 (GRCm39) T21K unknown Het
Ctcfl A T 2: 172,960,548 (GRCm39) Y12N probably benign Het
Cyria A G 12: 12,390,727 (GRCm39) E13G probably benign Het
Disp1 A G 1: 182,871,092 (GRCm39) Y443H probably benign Het
Dock2 T A 11: 34,589,582 (GRCm39) T492S possibly damaging Het
Edil3 G A 13: 89,347,591 (GRCm39) C382Y probably benign Het
Fancd2 A G 6: 113,555,416 (GRCm39) K1142E probably damaging Het
Fibcd1 T A 2: 31,723,815 (GRCm39) T275S possibly damaging Het
Fstl5 T C 3: 76,615,060 (GRCm39) V707A possibly damaging Het
Gm7298 G A 6: 121,751,083 (GRCm39) R720H probably benign Het
Hivep1 A T 13: 42,311,518 (GRCm39) T1253S probably damaging Het
Kif15 A G 9: 122,788,203 (GRCm39) N14S probably benign Het
Ldhc G A 7: 46,519,184 (GRCm39) V136I probably damaging Het
Madd T C 2: 91,008,501 (GRCm39) S134G probably benign Het
Map3k5 T C 10: 20,007,797 (GRCm39) S1209P probably benign Het
Mapre2 A G 18: 23,986,764 (GRCm39) K101E possibly damaging Het
Muc16 T A 9: 18,568,149 (GRCm39) R1457* probably null Het
Muc5b T C 7: 141,425,497 (GRCm39) V4714A probably benign Het
Pcdhgb5 T C 18: 37,865,240 (GRCm39) V345A probably benign Het
Phkb T C 8: 86,628,525 (GRCm39) F170S probably damaging Het
Pip5kl1 C T 2: 32,466,667 (GRCm39) P12L probably benign Het
Pramel14 T A 4: 143,719,606 (GRCm39) N253I probably benign Het
Prmt2 G A 10: 76,053,227 (GRCm39) P263S probably damaging Het
Rab44 C T 17: 29,354,065 (GRCm39) probably benign Het
Rad9a C T 19: 4,247,547 (GRCm39) G200R probably damaging Het
Ralgapb A G 2: 158,334,350 (GRCm39) T1354A probably benign Het
Rere A G 4: 150,516,040 (GRCm39) D111G probably benign Het
Rnase2b A T 14: 51,400,284 (GRCm39) T122S probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc26a2 C G 18: 61,331,881 (GRCm39) V517L probably benign Het
Tgm7 T A 2: 120,928,867 (GRCm39) D343V probably damaging Het
Tmf1 T C 6: 97,137,227 (GRCm39) T910A probably benign Het
Ttc3 T C 16: 94,245,360 (GRCm39) V1457A probably benign Het
Wdfy3 A G 5: 102,078,716 (GRCm39) V862A probably benign Het
Other mutations in Spock2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Spock2 APN 10 59,967,209 (GRCm39) missense unknown
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
Predicted Primers PCR Primer
(F):5'- GGGTAGAAATTCTCAGGGCC -3'
(R):5'- TCTGCAATTCGGAAGAGAGGTG -3'

Sequencing Primer
(F):5'- AGGGCCCCTGACTGCAG -3'
(R):5'- AGAGTCCAGCCAGTCTTTTTG -3'
Posted On 2022-07-18