Incidental Mutation 'R9341:Acat2'
ID 707518
Institutional Source Beutler Lab
Gene Symbol Acat2
Ensembl Gene ENSMUSG00000023832
Gene Name acetyl-Coenzyme A acetyltransferase 2
Synonyms Tcp1-rs1, Tcp-1x
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9341 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 13161929-13179612 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13167538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 166 (N166S)
Ref Sequence ENSEMBL: ENSMUSP00000007005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007005] [ENSMUST00000159697]
AlphaFold Q8CAY6
Predicted Effect probably damaging
Transcript: ENSMUST00000007005
AA Change: N166S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000007005
Gene: ENSMUSG00000023832
AA Change: N166S

DomainStartEndE-ValueType
Pfam:Thiolase_N 8 267 8e-99 PFAM
Pfam:Thiolase_C 274 396 1.8e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159697
AA Change: N134S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125066
Gene: ENSMUSG00000023832
AA Change: N134S

DomainStartEndE-ValueType
Pfam:Thiolase_N 1 235 3.9e-91 PFAM
Pfam:Thiolase_C 242 364 2.4e-53 PFAM
Pfam:ACP_syn_III_C 273 364 9.7e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 G C 10: 126,927,559 (GRCm39) G1147R unknown Het
Atp8b2 A T 3: 89,855,811 (GRCm39) F446I possibly damaging Het
Cacna2d3 A T 14: 28,704,315 (GRCm39) M822K possibly damaging Het
Caskin1 A G 17: 24,723,447 (GRCm39) E745G probably damaging Het
Clec4a2 G T 6: 123,104,955 (GRCm39) A82S probably benign Het
Col5a3 T C 9: 20,704,909 (GRCm39) N749S unknown Het
Col9a2 T A 4: 120,911,483 (GRCm39) M608K probably benign Het
Cope T C 8: 70,761,228 (GRCm39) probably null Het
Dennd2d T A 3: 106,397,730 (GRCm39) probably null Het
Dpys T C 15: 39,656,748 (GRCm39) T440A possibly damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbln5 G A 12: 101,737,551 (GRCm39) T152I probably damaging Het
Gm16503 A T 4: 147,625,508 (GRCm39) M1L unknown Het
Gm9195 A G 14: 72,717,500 (GRCm39) S278P probably damaging Het
Hmcn2 A G 2: 31,279,359 (GRCm39) N1787S probably benign Het
Klhl33 A G 14: 51,133,903 (GRCm39) probably null Het
Lrrk2 A G 15: 91,584,618 (GRCm39) D345G probably benign Het
Man2b2 A G 5: 36,975,951 (GRCm39) L368P probably damaging Het
Med23 T A 10: 24,788,705 (GRCm39) S1371T probably benign Het
Mllt3 T A 4: 87,792,168 (GRCm39) E109D possibly damaging Het
Myom2 G A 8: 15,134,633 (GRCm39) D479N probably damaging Het
Or52r1c A T 7: 102,735,324 (GRCm39) R195* probably null Het
Pcdhga10 G T 18: 37,880,532 (GRCm39) A98S probably benign Het
Pde8a A T 7: 80,950,427 (GRCm39) Q221H probably benign Het
Pkd1l1 T C 11: 8,786,399 (GRCm39) H2335R Het
Pkd1l1 T A 11: 8,911,305 (GRCm39) D324V Het
Pou2f2 G A 7: 24,794,277 (GRCm39) T363I possibly damaging Het
Prlr A G 15: 10,328,988 (GRCm39) I488V probably benign Het
Psmd2 T C 16: 20,475,441 (GRCm39) probably null Het
Rbm7 T C 9: 48,400,969 (GRCm39) D253G probably damaging Het
Ros1 A G 10: 51,972,116 (GRCm39) probably null Het
S1pr3 G T 13: 51,573,553 (GRCm39) V245L probably damaging Het
Sacs A G 14: 61,446,219 (GRCm39) D2755G probably benign Het
Scgn T A 13: 24,173,829 (GRCm39) probably null Het
Sh3rf3 A G 10: 58,966,802 (GRCm39) K715E probably damaging Het
Sox18 T C 2: 181,312,231 (GRCm39) E300G probably damaging Het
Spef2 T A 15: 9,713,190 (GRCm39) N394I probably damaging Het
Strn4 T C 7: 16,573,827 (GRCm39) F759L probably damaging Het
Tas2r144 A T 6: 42,193,066 (GRCm39) I269F probably benign Het
Tpcn1 T C 5: 120,678,737 (GRCm39) D606G possibly damaging Het
Trh A G 6: 92,220,823 (GRCm39) I13T probably benign Het
Umodl1 T C 17: 31,217,701 (GRCm39) I1169T possibly damaging Het
Vwa3b G A 1: 37,153,615 (GRCm39) D486N probably damaging Het
Wars2 T C 3: 99,094,846 (GRCm39) L47P probably benign Het
Zbtb14 A G 17: 69,695,576 (GRCm39) S425G probably damaging Het
Zdhhc16 T C 19: 41,926,549 (GRCm39) S111P probably benign Het
Other mutations in Acat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01920:Acat2 APN 17 13,162,912 (GRCm39) missense probably benign 0.00
R0243:Acat2 UTSW 17 13,162,908 (GRCm39) missense probably benign
R4153:Acat2 UTSW 17 13,171,153 (GRCm39) missense possibly damaging 0.88
R4224:Acat2 UTSW 17 13,181,772 (GRCm39) unclassified probably benign
R4332:Acat2 UTSW 17 13,181,782 (GRCm39) unclassified probably benign
R6219:Acat2 UTSW 17 13,179,604 (GRCm39) unclassified probably benign
R6605:Acat2 UTSW 17 13,162,774 (GRCm39) missense probably benign 0.07
R6683:Acat2 UTSW 17 13,162,814 (GRCm39) missense probably benign 0.00
R7313:Acat2 UTSW 17 13,178,893 (GRCm39) missense probably benign 0.18
R7566:Acat2 UTSW 17 13,166,346 (GRCm39) missense probably damaging 1.00
R8294:Acat2 UTSW 17 13,175,243 (GRCm39) missense probably benign 0.03
R9098:Acat2 UTSW 17 13,178,979 (GRCm39) start gained probably benign
R9343:Acat2 UTSW 17 13,167,538 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCCTACACCTTTACAAGCG -3'
(R):5'- CCCAGAAGGTTCCTATAGGAGATG -3'

Sequencing Primer
(F):5'- GAGTCATCCGTGCCTACAC -3'
(R):5'- AGAAGGTTCCTATAGGAGATGTTAAG -3'
Posted On 2022-04-18