Incidental Mutation 'R8133:S100a2'
ID 632104
Institutional Source Beutler Lab
Gene Symbol S100a2
Ensembl Gene ENSMUSG00000094018
Gene Name S100 calcium binding protein A2
Synonyms CaN19, EG628324, S100L
MMRRC Submission 067561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R8133 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 90497554-90498815 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90498616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 39 (V39A)
Ref Sequence ENSEMBL: ENSMUSP00000136224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179550] [ENSMUST00000200290] [ENSMUST00000200508]
AlphaFold J3QMC7
Predicted Effect possibly damaging
Transcript: ENSMUST00000179550
AA Change: V39A

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136224
Gene: ENSMUSG00000094018
AA Change: V39A

DomainStartEndE-ValueType
Pfam:S_100 1 36 3.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200290
SMART Domains Protein: ENSMUSP00000142334
Gene: ENSMUSG00000001021

DomainStartEndE-ValueType
Pfam:S_100 5 48 1.9e-20 PFAM
Blast:EFh 54 82 2e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000200508
SMART Domains Protein: ENSMUSP00000142747
Gene: ENSMUSG00000001021

DomainStartEndE-ValueType
Pfam:S_100 5 48 1.9e-20 PFAM
Blast:EFh 54 82 2e-6 BLAST
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.3%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,018,289 (GRCm39) S1110R possibly damaging Het
Adam15 C T 3: 89,254,513 (GRCm39) R123Q probably benign Het
AI987944 A G 7: 41,024,489 (GRCm39) probably null Het
Ankrd31 T C 13: 97,003,003 (GRCm39) probably null Het
Arfgef3 C A 10: 18,486,951 (GRCm39) probably null Het
Atp6v0c C T 17: 24,383,553 (GRCm39) S98N possibly damaging Het
Camsap1 T C 2: 25,824,309 (GRCm39) N1417S probably damaging Het
Cct7 T C 6: 85,438,045 (GRCm39) S96P probably damaging Het
Cd200l1 T C 16: 45,264,304 (GRCm39) T85A probably benign Het
Cd38 C A 5: 44,058,790 (GRCm39) L135M probably damaging Het
Cib4 T C 5: 30,691,562 (GRCm39) D53G probably benign Het
Cntn6 T A 6: 104,705,298 (GRCm39) S244T probably benign Het
Cubn G T 2: 13,393,659 (GRCm39) D1447E probably damaging Het
Ebf3 T C 7: 136,914,872 (GRCm39) E102G probably damaging Het
Elmo1 T A 13: 20,557,256 (GRCm39) V399E probably damaging Het
Etl4 A G 2: 20,811,082 (GRCm39) E1423G possibly damaging Het
Glis3 A G 19: 28,327,406 (GRCm39) S669P probably benign Het
Hipk1 T C 3: 103,660,710 (GRCm39) T742A possibly damaging Het
Igdcc4 C A 9: 65,039,023 (GRCm39) T890N possibly damaging Het
Jcad C T 18: 4,649,384 (GRCm39) T85I probably benign Het
Kmt2d T C 15: 98,762,823 (GRCm39) K316E probably damaging Het
Lrig1 T C 6: 94,588,610 (GRCm39) D513G possibly damaging Het
Lrrn4 T C 2: 132,719,934 (GRCm39) N289D probably damaging Het
Mcf2l A G 8: 13,061,487 (GRCm39) M829V probably damaging Het
Mib2 C T 4: 155,741,458 (GRCm39) R495H probably benign Het
Nqo2 T C 13: 34,169,461 (GRCm39) Y228H probably benign Het
Nrg2 T A 18: 36,165,430 (GRCm39) E394V probably benign Het
Oas1e T C 5: 120,926,060 (GRCm39) N336S probably benign Het
Obi1 G T 14: 104,716,681 (GRCm39) S564* probably null Het
Or51i2 G T 7: 103,689,122 (GRCm39) G40W probably benign Het
Or52b4i T A 7: 102,192,065 (GRCm39) H307Q probably benign Het
Or5b95 T G 19: 12,657,844 (GRCm39) V124G probably damaging Het
Pax4 T C 6: 28,442,513 (GRCm39) D305G probably benign Het
Pcdhb16 T A 18: 37,611,185 (GRCm39) N48K probably damaging Het
Pcdhb20 G T 18: 37,639,663 (GRCm39) E730* probably null Het
Pde4a A T 9: 21,102,673 (GRCm39) D119V possibly damaging Het
Pgam1 T C 19: 41,904,149 (GRCm39) V82A probably benign Het
Phf11a C T 14: 59,521,773 (GRCm39) G133S probably damaging Het
Phlpp1 TGCGCGCGCGC TGCGCGCGC 1: 106,100,522 (GRCm39) probably null Het
Piwil1 T C 5: 128,826,914 (GRCm39) V558A probably damaging Het
Prpf40b T C 15: 99,202,319 (GRCm39) V59A unknown Het
Psd4 T A 2: 24,286,701 (GRCm39) S353T probably benign Het
Ryr2 A T 13: 11,618,584 (GRCm39) L3877H probably damaging Het
Tanc2 T A 11: 105,814,048 (GRCm39) S1831T probably damaging Het
Zfhx4 A G 3: 5,465,554 (GRCm39) K1904R probably damaging Het
Zfp141 A G 7: 42,124,481 (GRCm39) C664R probably damaging Het
Other mutations in S100a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1521:S100a2 UTSW 3 90,498,599 (GRCm39) splice site probably null
R1710:S100a2 UTSW 3 90,498,699 (GRCm39) missense probably benign 0.31
R9026:S100a2 UTSW 3 90,498,811 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCTGAGGAATACCCAGGAACC -3'
(R):5'- TTTCAACCAAGAGATCCACGG -3'

Sequencing Primer
(F):5'- CAGTAGGCCTATTGGAGACACTTAC -3'
(R):5'- GATCCACGGCAGGTAGTG -3'
Posted On 2020-06-30