Incidental Mutation 'R5825:Acss2'
ID 450111
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 044053-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R5825 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 155359963-155404663 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 155391098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000029135] [ENSMUST00000029135] [ENSMUST00000065973] [ENSMUST00000065973] [ENSMUST00000103142] [ENSMUST00000103142] [ENSMUST00000103142] [ENSMUST00000103142] [ENSMUST00000133654]
AlphaFold Q9QXG4
Predicted Effect probably null
Transcript: ENSMUST00000029135
SMART Domains Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 1.9e-96 PFAM
Pfam:AMP-binding_C 583 661 2.4e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000029135
SMART Domains Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 1.9e-96 PFAM
Pfam:AMP-binding_C 583 661 2.4e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000065973
SMART Domains Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 4.8e-98 PFAM
Pfam:AMP-binding_C 583 660 3.1e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000065973
SMART Domains Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 4.8e-98 PFAM
Pfam:AMP-binding_C 583 660 3.1e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000103142
SMART Domains Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605

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 probably null
Transcript: ENSMUST00000103142
SMART Domains Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605

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 probably null
Transcript: ENSMUST00000103142
SMART Domains Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605

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 probably null
Transcript: ENSMUST00000103142
SMART Domains Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605

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 noncoding transcript
Transcript: ENSMUST00000131054
Predicted Effect probably benign
Transcript: ENSMUST00000133654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143169
Predicted Effect probably null
Transcript: ENSMUST00000151781
SMART Domains Protein: ENSMUSP00000122545
Gene: ENSMUSG00000027605

DomainStartEndE-ValueType
Pfam:AMP-binding 1 187 1.2e-32 PFAM
Pfam:AMP-binding 187 292 1.2e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175715
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.1%
  • 10x: 95.3%
  • 20x: 83.6%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,791,976 (GRCm39) Y217* probably null Het
Abca2 A T 2: 25,326,748 (GRCm39) I567F probably benign Het
Atxn7l2 C A 3: 108,112,127 (GRCm39) A320S probably damaging Het
Bfsp1 C T 2: 143,669,379 (GRCm39) G400D probably benign Het
Ces5a G T 8: 94,252,295 (GRCm39) A199D probably damaging Het
Cfhr4 T A 1: 139,702,336 (GRCm39) probably null Het
Chd2 A T 7: 73,134,350 (GRCm39) probably null Het
Crebbp A G 16: 3,905,606 (GRCm39) V1705A probably damaging Het
Cyp2j8 T A 4: 96,395,451 (GRCm39) Q58L probably benign Het
Dlec1 T A 9: 118,972,036 (GRCm39) I1379N probably damaging Het
Dnah9 T C 11: 66,017,427 (GRCm39) H593R probably benign Het
Ep300 T A 15: 81,495,673 (GRCm39) C412S probably benign Het
Fam110a A G 2: 151,811,961 (GRCm39) S270P probably damaging Het
Gcc2 A G 10: 58,130,643 (GRCm39) T1412A probably damaging Het
Helz2 T C 2: 180,874,449 (GRCm39) E2015G probably benign Het
Hormad1 T C 3: 95,469,870 (GRCm39) V39A probably damaging Het
Igf2 G T 7: 142,207,592 (GRCm39) H168Q probably damaging Het
Il18rap A G 1: 40,570,726 (GRCm39) T223A probably benign Het
Itpr2 T C 6: 146,045,647 (GRCm39) E2573G probably damaging Het
Jcad T A 18: 4,674,896 (GRCm39) V886E probably benign Het
Klra1 T C 6: 130,357,592 (GRCm39) R12G probably damaging Het
Lamb1 A G 12: 31,368,613 (GRCm39) I1248V probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mapk7 C T 11: 61,381,207 (GRCm39) R465Q possibly damaging Het
Mogs T C 6: 83,095,193 (GRCm39) V670A possibly damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Ninl A T 2: 150,782,644 (GRCm39) I1182N probably damaging Het
Nup160 A G 2: 90,510,114 (GRCm39) probably null Het
Nynrin A G 14: 56,101,683 (GRCm39) R451G probably benign Het
Or12e7 A G 2: 87,287,794 (GRCm39) D95G probably benign Het
Or5h22 T C 16: 58,895,024 (GRCm39) I140V probably benign Het
Osbp A G 19: 11,948,085 (GRCm39) T131A probably damaging Het
Pcdhga12 A C 18: 37,901,556 (GRCm39) D796A possibly damaging Het
Pcdhgb8 G A 18: 37,895,289 (GRCm39) V120I probably benign Het
Pdgfb A T 15: 79,881,869 (GRCm39) V213E probably benign Het
Phldb2 T C 16: 45,583,460 (GRCm39) M1013V probably benign Het
Pnma8a A G 7: 16,695,020 (GRCm39) S292G probably benign Het
Prrt4 A G 6: 29,177,182 (GRCm39) S196P probably benign Het
Rap1gds1 T C 3: 138,661,136 (GRCm39) M463V possibly damaging Het
Tmprss11g A T 5: 86,646,392 (GRCm39) S58R probably damaging Het
Traf3 C A 12: 111,221,795 (GRCm39) Q319K probably benign Het
Trappc8 C T 18: 21,006,977 (GRCm39) V194M probably damaging Het
Tyw1 A G 5: 130,296,929 (GRCm39) K182R probably damaging Het
Usp48 A G 4: 137,350,689 (GRCm39) T585A probably benign Het
Xkr6 G T 14: 64,056,481 (GRCm39) V387L probably benign Het
Yod1 T C 1: 130,646,743 (GRCm39) W207R probably damaging Het
Zdhhc8 T C 16: 18,046,538 (GRCm39) S63G probably null Het
Zfp827 A G 8: 79,905,645 (GRCm39) E874G probably damaging Het
Zfy1 T A Y: 726,531 (GRCm39) K411N possibly damaging 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
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
R7074:Acss2 UTSW 2 155,363,961 (GRCm39) missense possibly damaging 0.94
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'- TATGTTGAGCGGGCACAGTG -3'
(R):5'- AGACCATGGGCCTTTCCTTG -3'

Sequencing Primer
(F):5'- AAGTGTCAGAGATCCAGTGCCTTC -3'
(R):5'- TCCCACTCAGATGGCCC -3'
Posted On 2016-12-20