Incidental Mutation 'R8338:Ache'
ID 644729
Institutional Source Beutler Lab
Gene Symbol Ache
Ensembl Gene ENSMUSG00000023328
Gene Name acetylcholinesterase
Synonyms
MMRRC Submission 067730-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.685) question?
Stock # R8338 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 137286516-137292728 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137290006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 445 (L445P)
Ref Sequence ENSEMBL: ENSMUSP00000024099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024099] [ENSMUST00000040873] [ENSMUST00000052825] [ENSMUST00000085934] [ENSMUST00000125195] [ENSMUST00000132191] [ENSMUST00000137126] [ENSMUST00000138591] [ENSMUST00000141123] [ENSMUST00000196109] [ENSMUST00000196208] [ENSMUST00000197466] [ENSMUST00000198526] [ENSMUST00000199243]
AlphaFold P21836
PDB Structure ELECTROPHORUS ELECTRICUS ACETYLCHOLINESTERASE [X-RAY DIFFRACTION]
ELECTROPHORUS ELECTRICUS ACETYLCHOLINESTERASE [X-RAY DIFFRACTION]
Crystal structure of mouse acetylcholinesterase in the apo form [X-RAY DIFFRACTION]
Crystal structure of the mouse acetylcholinesterase-decidium complex [X-RAY DIFFRACTION]
Fasciculin 2-Mouse Acetylcholinesterase Complex [X-RAY DIFFRACTION]
MOUSE ACETYLCHOLINESTERASE CATALYTIC DOMAIN, GLYCOSYLATED PROTEIN [X-RAY DIFFRACTION]
FASCICULIN2-MOUSE ACETYLCHOLINESTERASE COMPLEX [X-RAY DIFFRACTION]
Crystal structure of the mouse acetylcholinesterase-gallamine complex [X-RAY DIFFRACTION]
Crystal structure of the mouse acetylcholinesterase-propidium complex [X-RAY DIFFRACTION]
Crystal structure of the mouse acetylcholinesterase-TZ2PA6 syn complex [X-RAY DIFFRACTION]
>> 61 additional structures at PDB <<
Predicted Effect probably damaging
Transcript: ENSMUST00000024099
AA Change: L445P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024099
Gene: ENSMUSG00000023328
AA Change: L445P

DomainStartEndE-ValueType
Pfam:COesterase 14 563 2e-186 PFAM
Pfam:Abhydrolase_3 146 276 7.5e-9 PFAM
Pfam:AChE_tetra 578 614 3.2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040873
SMART Domains Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364

DomainStartEndE-ValueType
low complexity region 3 65 N/A INTRINSIC
low complexity region 95 116 N/A INTRINSIC
Pfam:DUF3546 153 262 3.8e-44 PFAM
low complexity region 269 276 N/A INTRINSIC
low complexity region 326 350 N/A INTRINSIC
coiled coil region 367 402 N/A INTRINSIC
Blast:RRM 421 491 2e-31 BLAST
low complexity region 566 595 N/A INTRINSIC
low complexity region 603 615 N/A INTRINSIC
Pfam:ARS2 645 850 9.7e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052825
SMART Domains Protein: ENSMUSP00000056156
Gene: ENSMUSG00000051502

DomainStartEndE-ValueType
Pfam:Peptidase_C78 27 212 5.4e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000085934
AA Change: L445P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083097
Gene: ENSMUSG00000023328
AA Change: L445P

DomainStartEndE-ValueType
Pfam:COesterase 15 563 3e-178 PFAM
Pfam:Abhydrolase_3 146 260 1.4e-7 PFAM
Pfam:AChE_tetra 578 613 3.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125195
Predicted Effect probably benign
Transcript: ENSMUST00000132191
Predicted Effect probably benign
Transcript: ENSMUST00000137126
Predicted Effect probably benign
Transcript: ENSMUST00000138591
Predicted Effect probably benign
Transcript: ENSMUST00000141123
Predicted Effect probably benign
Transcript: ENSMUST00000196109
SMART Domains Protein: ENSMUSP00000142351
Gene: ENSMUSG00000037364

DomainStartEndE-ValueType
coiled coil region 11 46 N/A INTRINSIC
Blast:RRM 65 133 2e-15 BLAST
low complexity region 208 237 N/A INTRINSIC
low complexity region 245 257 N/A INTRINSIC
Pfam:ARS2 277 498 6.5e-111 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196208
AA Change: L357P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142427
Gene: ENSMUSG00000023328
AA Change: L357P

DomainStartEndE-ValueType
Pfam:COesterase 14 359 6.5e-134 PFAM
Pfam:Abhydrolase_3 146 284 4.1e-7 PFAM
Pfam:COesterase 355 475 1.5e-25 PFAM
Pfam:AChE_tetra 490 526 2.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197466
SMART Domains Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364

DomainStartEndE-ValueType
low complexity region 3 65 N/A INTRINSIC
low complexity region 95 116 N/A INTRINSIC
Pfam:DUF3546 151 264 9.5e-48 PFAM
low complexity region 269 276 N/A INTRINSIC
low complexity region 326 350 N/A INTRINSIC
coiled coil region 367 402 N/A INTRINSIC
Blast:RRM 421 491 2e-31 BLAST
low complexity region 566 595 N/A INTRINSIC
low complexity region 603 615 N/A INTRINSIC
Pfam:ARS2 635 845 5.5e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198526
SMART Domains Protein: ENSMUSP00000142435
Gene: ENSMUSG00000037364

DomainStartEndE-ValueType
low complexity region 3 65 N/A INTRINSIC
low complexity region 95 116 N/A INTRINSIC
Pfam:DUF3546 151 264 2e-45 PFAM
low complexity region 269 276 N/A INTRINSIC
low complexity region 322 347 N/A INTRINSIC
low complexity region 369 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199243
SMART Domains Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364

DomainStartEndE-ValueType
low complexity region 3 65 N/A INTRINSIC
low complexity region 95 116 N/A INTRINSIC
Pfam:DUF3546 151 264 9.5e-48 PFAM
low complexity region 269 276 N/A INTRINSIC
low complexity region 326 350 N/A INTRINSIC
coiled coil region 367 402 N/A INTRINSIC
Blast:RRM 421 491 2e-31 BLAST
low complexity region 566 595 N/A INTRINSIC
low complexity region 603 615 N/A INTRINSIC
Pfam:ARS2 635 849 9.8e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199756
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show retarded postnatal development, tremors, impaired righting response, delayed maturation of external ear, failure of eyelids to open, and die by 3-wk. of age. Mutants are highly sensitive to butyrylcholinesterase inhibitor toxicity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn G A 4: 156,253,018 (GRCm39) T1773I probably benign Het
Arap3 A G 18: 38,106,683 (GRCm39) S1387P probably damaging Het
Bcl11a G C 11: 24,114,578 (GRCm39) K640N probably damaging Het
Bicd1 G A 6: 149,414,621 (GRCm39) V445I probably benign Het
Bltp3a A G 17: 28,095,669 (GRCm39) N26S probably damaging Het
C2cd6 A C 1: 59,099,734 (GRCm39) N402K probably benign Het
Celsr3 C T 9: 108,704,539 (GRCm39) Q341* probably null Het
Cers1 A G 8: 70,783,772 (GRCm39) E240G possibly damaging Het
Cfap157 G T 2: 32,668,018 (GRCm39) T441N possibly damaging Het
Cfap44 G A 16: 44,239,698 (GRCm39) probably null Het
Chd1 A G 17: 15,990,242 (GRCm39) Y1598C probably damaging Het
Ckap2l T G 2: 129,126,939 (GRCm39) Q413P probably damaging Het
Cobl T C 11: 12,203,696 (GRCm39) E1002G probably benign Het
Cryge G A 1: 65,087,933 (GRCm39) T156M unknown Het
Cubn A C 2: 13,435,658 (GRCm39) F1099L probably benign Het
Cyp7b1 T C 3: 18,151,730 (GRCm39) E161G probably benign Het
Dnah10 A G 5: 124,909,566 (GRCm39) E4452G probably damaging Het
Dnah2 C T 11: 69,378,122 (GRCm39) R1273Q probably damaging Het
Dnah3 T C 7: 119,671,104 (GRCm39) E593G probably benign Het
Dnah9 C A 11: 65,732,067 (GRCm39) probably null Het
Dnajc22 C A 15: 98,999,022 (GRCm39) P69Q probably benign Het
Fam171a2 T A 11: 102,329,172 (GRCm39) D529V probably benign Het
Fbxl17 T C 17: 63,663,753 (GRCm39) I579V possibly damaging Het
Fry C T 5: 150,282,516 (GRCm39) T347M probably damaging Het
Gm13272 A C 4: 88,698,364 (GRCm39) D93A probably benign Het
Grm4 A T 17: 27,653,977 (GRCm39) F658I probably damaging Het
Hmcn1 G A 1: 150,614,485 (GRCm39) T1307I probably benign Het
Igkv12-98 G A 6: 68,548,159 (GRCm39) S96N probably benign Het
Il2ra A T 2: 11,687,885 (GRCm39) T222S probably benign Het
Il5ra G T 6: 106,689,350 (GRCm39) T414K probably benign Het
Isg15 T A 4: 156,284,088 (GRCm39) I147F probably benign Het
Kif14 C A 1: 136,422,416 (GRCm39) A902E probably damaging Het
Lcat G A 8: 106,666,719 (GRCm39) R268C probably damaging Het
Lipa T C 19: 34,471,477 (GRCm39) N366S probably benign Het
Lrp4 A G 2: 91,322,713 (GRCm39) T1101A probably benign Het
Man1a T A 10: 53,801,643 (GRCm39) probably null Het
Mib1 A G 18: 10,726,372 (GRCm39) D23G probably benign Het
Morc2b A T 17: 33,355,387 (GRCm39) M795K probably benign Het
Msantd5f1 T A 4: 73,605,435 (GRCm39) M282K possibly damaging Het
Mycbp2 T A 14: 103,372,701 (GRCm39) E4048D probably damaging Het
Myo7b A G 18: 32,104,408 (GRCm39) S1447P probably damaging Het
Myt1 A T 2: 181,443,655 (GRCm39) T536S possibly damaging Het
Nod1 A T 6: 54,920,956 (GRCm39) L454Q probably damaging Het
Nrf1 T A 6: 30,140,247 (GRCm39) W199R Het
Or10w1 T A 19: 13,632,216 (GRCm39) M141K possibly damaging Het
Or13a27 T A 7: 139,925,306 (GRCm39) M199L probably benign Het
Or14c44 T C 7: 86,061,702 (GRCm39) I44T probably benign Het
Or8k27 A T 2: 86,275,729 (GRCm39) M199K probably benign Het
Or9a4 T C 6: 40,548,910 (GRCm39) F197L probably benign Het
Ostn G T 16: 27,143,285 (GRCm39) A38S probably benign Het
Paxbp1 A T 16: 90,833,435 (GRCm39) D266E probably damaging Het
Pcdhb14 G T 18: 37,582,175 (GRCm39) G427V probably damaging Het
Pdzrn3 A T 6: 101,127,783 (GRCm39) M961K probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Prdx5 T C 19: 6,884,632 (GRCm39) D148G probably damaging Het
Ptprj A T 2: 90,301,481 (GRCm39) I217N possibly damaging Het
Rccd1 A T 7: 79,970,618 (GRCm39) L54Q possibly damaging Het
Rfx6 T A 10: 51,594,190 (GRCm39) V370E probably damaging Het
Sdr16c6 C T 4: 4,076,620 (GRCm39) C93Y probably damaging Het
Shroom1 A G 11: 53,354,107 (GRCm39) D9G probably benign Het
Snrpe A G 1: 133,536,681 (GRCm39) V33A probably benign Het
Spats2 T A 15: 99,076,340 (GRCm39) D139E probably damaging Het
Spopfm1 A G 3: 94,173,285 (GRCm39) I94V possibly damaging Het
St18 A G 1: 6,879,516 (GRCm39) E405G probably damaging Het
Strap A T 6: 137,718,976 (GRCm39) E176V possibly damaging Het
Stxbp5l G T 16: 36,994,718 (GRCm39) T729K probably damaging Het
Synj2bp G A 12: 81,551,326 (GRCm39) Q97* probably null Het
Tbc1d32 T A 10: 55,904,173 (GRCm39) Q1198L possibly damaging Het
Tmem98 T C 11: 80,712,135 (GRCm39) S191P probably benign Het
Tnn C T 1: 159,946,053 (GRCm39) G922R probably damaging Het
Treh A G 9: 44,595,808 (GRCm39) N366S probably benign Het
Ttn T G 2: 76,750,136 (GRCm39) S3638R probably benign Het
Uggt1 A G 1: 36,266,602 (GRCm39) L124P probably damaging Het
V1rd19 A T 7: 23,702,674 (GRCm39) K47* probably null Het
Wdhd1 T C 14: 47,506,120 (GRCm39) M265V probably benign Het
Wsb1 T C 11: 79,137,103 (GRCm39) D168G probably damaging Het
Other mutations in Ache
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02323:Ache APN 5 137,289,326 (GRCm39) missense probably damaging 1.00
IGL02833:Ache APN 5 137,289,371 (GRCm39) unclassified probably benign
R0058:Ache UTSW 5 137,289,104 (GRCm39) missense probably damaging 1.00
R0358:Ache UTSW 5 137,288,635 (GRCm39) missense probably benign 0.21
R0377:Ache UTSW 5 137,289,190 (GRCm39) missense possibly damaging 0.54
R0780:Ache UTSW 5 137,288,794 (GRCm39) missense probably damaging 1.00
R1233:Ache UTSW 5 137,288,419 (GRCm39) splice site probably null
R1702:Ache UTSW 5 137,289,251 (GRCm39) missense possibly damaging 0.94
R1762:Ache UTSW 5 137,288,837 (GRCm39) missense possibly damaging 0.91
R4191:Ache UTSW 5 137,289,334 (GRCm39) missense probably damaging 0.98
R4226:Ache UTSW 5 137,289,152 (GRCm39) missense possibly damaging 0.83
R4499:Ache UTSW 5 137,290,194 (GRCm39) missense probably damaging 0.98
R4931:Ache UTSW 5 137,290,176 (GRCm39) missense probably benign 0.00
R5411:Ache UTSW 5 137,288,692 (GRCm39) splice site probably null
R5411:Ache UTSW 5 137,288,326 (GRCm39) missense possibly damaging 0.93
R5698:Ache UTSW 5 137,288,821 (GRCm39) missense probably damaging 1.00
R6153:Ache UTSW 5 137,290,117 (GRCm39) missense probably damaging 1.00
R6526:Ache UTSW 5 137,288,906 (GRCm39) missense probably damaging 1.00
R6896:Ache UTSW 5 137,289,996 (GRCm39) missense probably damaging 0.98
R6981:Ache UTSW 5 137,289,940 (GRCm39) missense probably benign
R7199:Ache UTSW 5 137,288,504 (GRCm39) missense probably damaging 1.00
R7208:Ache UTSW 5 137,289,751 (GRCm39) missense probably damaging 1.00
R8200:Ache UTSW 5 137,292,457 (GRCm39) missense probably damaging 1.00
R8461:Ache UTSW 5 137,288,582 (GRCm39) missense probably damaging 0.96
R8933:Ache UTSW 5 137,288,449 (GRCm39) missense possibly damaging 0.56
R9146:Ache UTSW 5 137,289,077 (GRCm39) missense probably damaging 1.00
R9376:Ache UTSW 5 137,289,025 (GRCm39) missense probably benign
R9439:Ache UTSW 5 137,289,185 (GRCm39) missense probably damaging 0.97
X0061:Ache UTSW 5 137,288,357 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCAGGCTTCAGCAAAGAC -3'
(R):5'- TAAGTCGCTGAGCAAAGATCCTC -3'

Sequencing Primer
(F):5'- ATGAATCTCTCATCAGCCGGG -3'
(R):5'- GAGCAAAGATCCTCTCCTCCGTG -3'
Posted On 2020-09-02