Incidental Mutation 'R7510:Saa2'
ID 582030
Institutional Source Beutler Lab
Gene Symbol Saa2
Ensembl Gene ENSMUSG00000057465
Gene Name serum amyloid A 2
Synonyms Saa-2
MMRRC Submission 045583-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R7510 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 46401257-46403737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46402933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 61 (D61E)
Ref Sequence ENSEMBL: ENSMUSP00000075365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075982] [ENSMUST00000210272] [ENSMUST00000210769]
AlphaFold P05367
Predicted Effect probably damaging
Transcript: ENSMUST00000075982
AA Change: D61E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075365
Gene: ENSMUSG00000057465
AA Change: D61E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SAA 21 122 2.29e-77 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000210272
AA Change: D27E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000210769
AA Change: D61E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency 97% (65/67)
MGI Phenotype PHENOTYPE: The CE/J strain produces a mutant form of Saa2 and is not susceptible to amyloidosis, as are mice of most other inbred strains. M. caroli, M. spretus and M.m. Czech produce variant Saa2 isoforms and M.m. Czech is also reistant to amyloidosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b1 C T 10: 98,829,758 (GRCm39) R320C probably benign Het
Bend4 A G 5: 67,584,727 (GRCm39) F66L unknown Het
Brca2 T C 5: 150,460,156 (GRCm39) V477A possibly damaging Het
Brms1l A T 12: 55,892,107 (GRCm39) K134* probably null Het
Catsper1 A T 19: 5,389,578 (GRCm39) T498S probably benign Het
Ccdc177 C A 12: 80,804,457 (GRCm39) V606L unknown Het
D030056L22Rik G T 19: 18,690,853 (GRCm39) A56S possibly damaging Het
Disp1 T C 1: 182,869,975 (GRCm39) N815S probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Fancf A G 7: 51,511,953 (GRCm39) V17A probably damaging Het
Fastkd2 T A 1: 63,776,948 (GRCm39) H361Q possibly damaging Het
Furin A G 7: 80,043,333 (GRCm39) S293P probably damaging Het
Ghsr A T 3: 27,426,523 (GRCm39) D193V probably benign Het
Gm14403 T A 2: 177,200,403 (GRCm39) N116K probably benign Het
Gpr31b A G 17: 13,270,557 (GRCm39) L204P probably damaging Het
Hexim1 A G 11: 103,008,067 (GRCm39) E107G probably benign Het
Hspa14 T C 2: 3,499,159 (GRCm39) S212G probably benign Het
Il18r1 T A 1: 40,514,035 (GRCm39) H80Q probably benign Het
Itpr3 A G 17: 27,308,013 (GRCm39) T267A probably damaging Het
Kidins220 T A 12: 25,042,268 (GRCm39) H146Q possibly damaging Het
Larp4 T C 15: 99,891,258 (GRCm39) F228L probably benign Het
Ltbp1 T A 17: 75,659,712 (GRCm39) V1288E probably damaging Het
Madd T C 2: 91,008,321 (GRCm39) T194A possibly damaging Het
Mlana G A 19: 29,682,072 (GRCm39) G42S probably benign Het
Mlxipl A G 5: 135,161,972 (GRCm39) E548G possibly damaging Het
Mmab A T 5: 114,573,283 (GRCm39) C228S probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nrf1 C T 6: 30,151,633 (GRCm39) T490I possibly damaging Het
Numbl A G 7: 26,971,412 (GRCm39) probably null Het
Or12e13 T A 2: 87,663,872 (GRCm39) I163K probably damaging Het
Or13c7 A G 4: 43,854,482 (GRCm39) T58A probably benign Het
Or5bw2 C T 7: 6,572,960 (GRCm39) probably benign Het
Or5v1b T A 17: 37,841,480 (GRCm39) I204N probably damaging Het
Or6c3b G T 10: 129,527,789 (GRCm39) N40K probably damaging Het
Or9g8 T A 2: 85,607,153 (GRCm39) V75D probably damaging Het
Papln G A 12: 83,818,947 (GRCm39) D96N probably damaging Het
Pcdhb14 T C 18: 37,582,645 (GRCm39) Y584H probably damaging Het
Pde7b T C 10: 20,288,761 (GRCm39) D310G possibly damaging Het
Plin5 T A 17: 56,420,975 (GRCm39) H230L probably damaging Het
Ppp1r13l A C 7: 19,102,726 (GRCm39) E47A possibly damaging Het
Prdm5 C T 6: 65,904,976 (GRCm39) H536Y probably damaging Het
Prickle2 T C 6: 92,353,451 (GRCm39) R728G possibly damaging Het
Prkca A T 11: 107,874,820 (GRCm39) V374E possibly damaging Het
Prss3 A T 6: 41,352,044 (GRCm39) L73* probably null Het
Prss51 G A 14: 64,333,489 (GRCm39) D33N probably damaging Het
Rfwd3 A G 8: 112,006,659 (GRCm39) V479A probably damaging Het
Rpl36a-ps1 G A 14: 99,231,666 (GRCm39) T24I probably benign Het
Rps6ka5 T C 12: 100,582,327 (GRCm39) I182V possibly damaging Het
Samd3 A T 10: 26,106,006 (GRCm39) I22F probably benign Het
Sap130 C T 18: 31,800,057 (GRCm39) P403L probably damaging Het
Sap130 A G 18: 31,844,268 (GRCm39) T813A probably damaging Het
Scfd2 A G 5: 74,372,988 (GRCm39) F629S probably damaging Het
Sec61a1 A T 6: 88,489,585 (GRCm39) F119I probably benign Het
Serpinb9 T A 13: 33,194,768 (GRCm39) F175I probably damaging Het
Slc12a3 G T 8: 95,092,477 (GRCm39) C966F probably damaging Het
Sptbn4 A G 7: 27,127,693 (GRCm39) V169A probably benign Het
Synj1 A G 16: 90,735,565 (GRCm39) S1463P probably benign Het
Tfec T A 6: 16,835,232 (GRCm39) H182L probably benign Het
Tigd5 T C 15: 75,782,268 (GRCm39) V210A probably benign Het
Tssc4 G A 7: 142,623,718 (GRCm39) E9K possibly damaging Het
Txk C G 5: 72,893,726 (GRCm39) C18S unknown Het
Uaca G A 9: 60,757,487 (GRCm39) probably null Het
Vmn2r1 A C 3: 63,993,922 (GRCm39) K89N probably damaging Het
Zfp160 G A 17: 21,246,655 (GRCm39) E402K probably benign Het
Other mutations in Saa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Saa2 APN 7 46,402,896 (GRCm39) missense probably benign
R0453:Saa2 UTSW 7 46,402,902 (GRCm39) missense probably damaging 1.00
R1573:Saa2 UTSW 7 46,401,716 (GRCm39) start codon destroyed probably null 0.53
Predicted Primers PCR Primer
(F):5'- TGATCTTCCAGTTCAAGCTCTCAG -3'
(R):5'- GCTTTGATGGGCACACTAGC -3'

Sequencing Primer
(F):5'- CTCAGGCCAGGAGTACTTTCAATG -3'
(R):5'- GCACACTAGCCTTGCGAG -3'
Posted On 2019-10-17