Incidental Mutation 'R7074:Acss2'
ID 549084
Institutional Source Beutler Lab
Gene Symbol Acss2
Ensembl Gene ENSMUSG00000027605
Gene Name acyl-CoA synthetase short-chain family member 2
Synonyms Acas2, Acas1, AceCS1, acetyl-CoA synthetase 1, ACAS, Acs1
MMRRC Submission 045242-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R7074 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 155359963-155404663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155363961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 80 (L80P)
Ref Sequence ENSEMBL: ENSMUSP00000029135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029135] [ENSMUST00000065973] [ENSMUST00000103142] [ENSMUST00000133654] [ENSMUST00000147601]
AlphaFold Q9QXG4
Predicted Effect possibly damaging
Transcript: ENSMUST00000029135
AA Change: L80P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
AA Change: L80P

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 1.9e-96 PFAM
Pfam:AMP-binding_C 583 661 2.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065973
AA Change: L80P

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
AA Change: L80P

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 4.8e-98 PFAM
Pfam:AMP-binding_C 583 660 3.1e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000103142
AA Change: L80P

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605
AA Change: L80P

DomainStartEndE-ValueType
Pfam:ACAS_N 47 107 8.1e-21 PFAM
Pfam:AMP-binding 108 588 4.7e-97 PFAM
Pfam:AMP-binding_C 596 674 1.3e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000133654
AA Change: L80P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000147601
SMART Domains Protein: ENSMUSP00000120560
Gene: ENSMUSG00000027603

DomainStartEndE-ValueType
low complexity region 28 42 N/A INTRINSIC
low complexity region 72 83 N/A INTRINSIC
transmembrane domain 109 131 N/A INTRINSIC
Pfam:G_glu_transpept 154 202 6.6e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,340,433 (GRCm39) I53L probably benign Het
Adam3 A T 8: 25,184,363 (GRCm39) F546I probably benign Het
Adtrp A T 13: 41,981,617 (GRCm39) probably null Het
Anapc1 G T 2: 128,520,194 (GRCm39) P208T probably damaging Het
Ankrd33 A G 15: 101,017,430 (GRCm39) K281R probably benign Het
Bcl11b A G 12: 107,955,766 (GRCm39) S128P probably benign Het
Ccdc57 T C 11: 120,794,200 (GRCm39) K265E possibly damaging Het
Cep72 A G 13: 74,199,699 (GRCm39) C244R probably benign Het
Cope A G 8: 70,765,537 (GRCm39) Q303R probably benign Het
Cpd T A 11: 76,704,420 (GRCm39) N398I probably damaging Het
Cplx1 C T 5: 108,696,393 (GRCm39) probably null Het
Dixdc1 T A 9: 50,601,214 (GRCm39) E344D possibly damaging Het
Dock7 A T 4: 98,833,445 (GRCm39) F1951I unknown Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Faap24 A T 7: 35,094,527 (GRCm39) I91K possibly damaging Het
Fubp3 T C 2: 31,485,306 (GRCm39) S107P probably damaging Het
Gas2l2 T A 11: 83,313,893 (GRCm39) Q473L probably benign Het
Ghr A T 15: 3,362,873 (GRCm39) Y200N probably damaging Het
Gm4950 G A 18: 51,998,521 (GRCm39) Q145* probably null Het
Gm826 C T 2: 160,153,810 (GRCm39) V78I unknown Het
Gnas G A 2: 174,126,842 (GRCm39) E126K probably damaging Het
Grip2 A T 6: 91,761,689 (GRCm39) V235E probably benign Het
Hmgcl A G 4: 135,681,178 (GRCm39) H88R probably benign Het
Htr7 A G 19: 36,034,283 (GRCm39) V124A probably damaging Het
Igf2r T A 17: 12,933,003 (GRCm39) I840F possibly damaging Het
Ints8 T C 4: 11,204,574 (GRCm39) I961V possibly damaging Het
Jmy A T 13: 93,590,439 (GRCm39) S555T probably benign Het
Klk1b27 G A 7: 43,705,977 (GRCm39) G227S probably damaging Het
Lao1 A C 4: 118,825,382 (GRCm39) T401P probably damaging Het
Lrwd1 C T 5: 136,152,511 (GRCm39) V547I probably benign Het
Mttp C A 3: 137,813,034 (GRCm39) R532L possibly damaging Het
Muc16 T C 9: 18,566,946 (GRCm39) T1858A unknown Het
Myo18a T A 11: 77,733,387 (GRCm39) D1409E probably benign Het
Ncor2 T A 5: 125,126,430 (GRCm39) R554* probably null Het
Or14j6 T A 17: 38,214,718 (GRCm39) Y94N possibly damaging Het
Or1e1b-ps1 A T 11: 73,845,975 (GRCm39) H153L probably benign Het
Or2b11 T C 11: 59,461,835 (GRCm39) T244A probably damaging Het
Or2l13b T A 16: 19,348,855 (GRCm39) I272F possibly damaging Het
Or52b1 A G 7: 104,978,475 (GRCm39) M308T probably benign Het
Prkar2b A G 12: 32,022,147 (GRCm39) Y213H probably damaging Het
Prkd3 T A 17: 79,282,236 (GRCm39) K306* probably null Het
Psd2 A G 18: 36,143,737 (GRCm39) E681G probably benign Het
Sel1l2 T A 2: 140,105,362 (GRCm39) N276I probably damaging Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
Smyd1 A G 6: 71,214,359 (GRCm39) V214A probably damaging Het
Spag5 T C 11: 78,195,868 (GRCm39) probably null Het
Trem3 C T 17: 48,556,909 (GRCm39) R127W probably damaging Het
Ttn G A 2: 76,748,425 (GRCm39) T4208I probably benign Het
Tubgcp6 A G 15: 89,004,839 (GRCm39) F260S probably damaging Het
Vmn1r51 A T 6: 90,106,654 (GRCm39) D190V probably benign Het
Zc3h14 A G 12: 98,724,859 (GRCm39) I174V possibly damaging Het
Zfp423 G A 8: 88,509,060 (GRCm39) T428I probably benign Het
Zfp608 T A 18: 55,030,454 (GRCm39) N1162I possibly damaging Het
Zmym5 T C 14: 57,042,255 (GRCm39) M8V probably benign Het
Other mutations in Acss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Acss2 APN 2 155,403,957 (GRCm39) missense possibly damaging 0.83
IGL02333:Acss2 APN 2 155,397,804 (GRCm39) missense probably damaging 1.00
IGL03278:Acss2 APN 2 155,403,921 (GRCm39) missense possibly damaging 0.64
IGL03392:Acss2 APN 2 155,403,931 (GRCm39) missense probably damaging 1.00
BB009:Acss2 UTSW 2 155,415,100 (GRCm39) missense unknown
BB019:Acss2 UTSW 2 155,415,100 (GRCm39) missense unknown
R1159:Acss2 UTSW 2 155,393,138 (GRCm39) missense probably benign
R1293:Acss2 UTSW 2 155,393,141 (GRCm39) missense probably benign
R1639:Acss2 UTSW 2 155,398,828 (GRCm39) missense probably benign 0.01
R1725:Acss2 UTSW 2 155,398,764 (GRCm39) missense possibly damaging 0.56
R1834:Acss2 UTSW 2 155,400,550 (GRCm39) missense probably damaging 1.00
R1835:Acss2 UTSW 2 155,400,550 (GRCm39) missense probably damaging 1.00
R1836:Acss2 UTSW 2 155,400,550 (GRCm39) missense probably damaging 1.00
R2361:Acss2 UTSW 2 155,400,589 (GRCm39) missense probably damaging 0.98
R3899:Acss2 UTSW 2 155,399,157 (GRCm39) splice site probably benign
R4008:Acss2 UTSW 2 155,399,548 (GRCm39) missense probably damaging 1.00
R4009:Acss2 UTSW 2 155,399,548 (GRCm39) missense probably damaging 1.00
R4010:Acss2 UTSW 2 155,399,548 (GRCm39) missense probably damaging 1.00
R4011:Acss2 UTSW 2 155,399,548 (GRCm39) missense probably damaging 1.00
R4031:Acss2 UTSW 2 155,399,130 (GRCm39) missense probably damaging 1.00
R4117:Acss2 UTSW 2 155,398,313 (GRCm39) missense probably damaging 1.00
R4515:Acss2 UTSW 2 155,398,283 (GRCm39) missense probably benign 0.39
R4756:Acss2 UTSW 2 155,403,063 (GRCm39) missense probably damaging 1.00
R4895:Acss2 UTSW 2 155,392,401 (GRCm39) splice site probably benign
R5327:Acss2 UTSW 2 155,415,149 (GRCm39) missense probably null
R5654:Acss2 UTSW 2 155,416,575 (GRCm39) unclassified probably benign
R5717:Acss2 UTSW 2 155,403,073 (GRCm39) missense probably damaging 1.00
R5743:Acss2 UTSW 2 155,416,536 (GRCm39) unclassified probably benign
R5773:Acss2 UTSW 2 155,416,614 (GRCm39) splice site probably null
R5825:Acss2 UTSW 2 155,391,098 (GRCm39) splice site probably null
R5979:Acss2 UTSW 2 155,364,029 (GRCm39) missense possibly damaging 0.75
R6525:Acss2 UTSW 2 155,392,337 (GRCm39) missense probably benign
R6551:Acss2 UTSW 2 155,393,128 (GRCm39) missense probably benign
R6785:Acss2 UTSW 2 155,402,605 (GRCm39) missense probably damaging 1.00
R6976:Acss2 UTSW 2 155,397,929 (GRCm39) splice site probably null
R7372:Acss2 UTSW 2 155,399,100 (GRCm39) missense probably damaging 0.99
R7448:Acss2 UTSW 2 155,360,186 (GRCm39) missense probably damaging 1.00
R7528:Acss2 UTSW 2 155,399,066 (GRCm39) missense probably damaging 1.00
R7541:Acss2 UTSW 2 155,416,610 (GRCm39) critical splice donor site probably null
R7543:Acss2 UTSW 2 155,391,755 (GRCm39) missense probably damaging 0.98
R7754:Acss2 UTSW 2 155,403,086 (GRCm39) missense probably benign 0.00
R7846:Acss2 UTSW 2 155,402,953 (GRCm39) missense probably damaging 1.00
R7932:Acss2 UTSW 2 155,415,100 (GRCm39) missense unknown
R8011:Acss2 UTSW 2 155,397,877 (GRCm39) missense possibly damaging 0.73
R8424:Acss2 UTSW 2 155,416,538 (GRCm39) missense unknown
R8481:Acss2 UTSW 2 155,398,381 (GRCm39) nonsense probably null
R8878:Acss2 UTSW 2 155,398,324 (GRCm39) missense probably benign 0.20
R8956:Acss2 UTSW 2 155,391,438 (GRCm39) missense probably damaging 1.00
R9463:Acss2 UTSW 2 155,392,032 (GRCm39) missense probably benign 0.23
R9545:Acss2 UTSW 2 155,403,716 (GRCm39) missense probably damaging 1.00
Z1177:Acss2 UTSW 2 155,359,877 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- CATTTGGGAATAGCCTGTAGGTGC -3'
(R):5'- GAGATTGTTCTCTGCCATAGACT -3'

Sequencing Primer
(F):5'- CTAGGGTCGACAAATAATGAGTCC -3'
(R):5'- GCACGTTGTAGCAGATGT -3'
Posted On 2019-05-15