Incidental Mutation 'R7208:Ache'
ID 560856
Institutional Source Beutler Lab
Gene Symbol Ache
Ensembl Gene ENSMUSG00000023328
Gene Name acetylcholinesterase
Synonyms
MMRRC Submission 045285-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.685) question?
Stock # R7208 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 137286516-137292728 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 137289751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 360 (G360D)
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: G360D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024099
Gene: ENSMUSG00000023328
AA Change: G360D

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: G360D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083097
Gene: ENSMUSG00000023328
AA Change: G360D

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 benign
Transcript: ENSMUST00000196208
SMART Domains Protein: ENSMUSP00000142427
Gene: ENSMUSG00000023328

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: 99.6%
  • 20x: 98.4%
Validation Efficiency 99% (76/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,629 (GRCm39) K854E probably damaging Het
Abcd2 G T 15: 91,074,885 (GRCm39) Y309* probably null Het
Acot12 T C 13: 91,929,361 (GRCm39) L396P probably benign Het
Acox2 T G 14: 8,241,303 (GRCm38) D603A probably benign Het
Adam3 C A 8: 25,201,417 (GRCm39) K245N probably damaging Het
Ankhd1 T C 18: 36,758,081 (GRCm39) I925T probably benign Het
Arhgap27 C T 11: 103,251,585 (GRCm39) V48M probably damaging Het
Atm A T 9: 53,423,308 (GRCm39) probably null Het
B4galt4 T A 16: 38,574,302 (GRCm39) F92Y probably damaging Het
Brwd1 C T 16: 95,837,159 (GRCm39) R891Q probably damaging Het
Calcr T C 6: 3,687,612 (GRCm39) Q462R probably benign Het
Ccdc112 T C 18: 46,420,698 (GRCm39) R351G probably damaging Het
Ccdc80 T G 16: 44,917,073 (GRCm39) S610A probably benign Het
Cdh20 C A 1: 104,881,796 (GRCm39) N420K possibly damaging Het
Cntn3 G A 6: 102,255,383 (GRCm39) R172* probably null Het
Ctnnd1 G T 2: 84,452,390 (GRCm39) Q78K possibly damaging Het
D16Ertd472e A T 16: 78,372,814 (GRCm39) L41H probably damaging Het
Dclk2 A T 3: 86,706,909 (GRCm39) probably null Het
Dmwd C T 7: 18,814,234 (GRCm39) H295Y probably benign Het
Dnai2 T C 11: 114,647,988 (GRCm39) V588A unknown Het
Dnai4 T G 4: 102,923,549 (GRCm39) I427L probably benign Het
Dtx4 C T 19: 12,459,437 (GRCm39) probably null Het
Dync2h1 C A 9: 7,141,059 (GRCm39) D1323Y probably damaging Het
Fcgbp T A 7: 27,803,446 (GRCm39) H1683Q probably benign Het
Fndc3c1 G C X: 105,478,679 (GRCm39) L724V possibly damaging Het
Gm9195 A G 14: 72,689,192 (GRCm39) S1876P possibly damaging Het
Grhl2 A C 15: 37,335,980 (GRCm39) K431T probably damaging Het
Grm7 T G 6: 111,335,530 (GRCm39) I647S possibly damaging Het
Gtf2ird1 T C 5: 134,439,948 (GRCm39) N94S probably benign Het
Gvin2 A C 7: 105,551,386 (GRCm39) S555R possibly damaging Het
Hmgcs1 G T 13: 120,162,620 (GRCm39) G195W probably damaging Het
Hrc A T 7: 44,985,989 (GRCm39) Y380F possibly damaging Het
Kcnu1 C T 8: 26,409,665 (GRCm39) Q863* probably null Het
Lemd2 G A 17: 27,415,165 (GRCm39) P300L probably damaging Het
Lnpep A T 17: 17,773,172 (GRCm39) Y665* probably null Het
Lrfn1 A G 7: 28,166,564 (GRCm39) T653A probably benign Het
Ly6g6c A G 17: 35,286,387 (GRCm39) T8A unknown Het
Mcm5 T C 8: 75,848,344 (GRCm39) probably null Het
Med28 A T 5: 45,680,794 (GRCm39) D86V probably damaging Het
Mup11 A G 4: 60,615,725 (GRCm39) S171P possibly damaging Het
Nckap1 A G 2: 80,370,542 (GRCm39) F383L probably benign Het
Nid1 G C 13: 13,642,970 (GRCm39) G303R probably benign Het
Nkain3 A G 4: 20,282,892 (GRCm39) V147A probably benign Het
Or12k8 A G 2: 36,975,670 (GRCm39) V30A probably benign Het
Pde9a G A 17: 31,639,258 (GRCm39) V63I possibly damaging Het
Pdlim2 T A 14: 70,411,826 (GRCm39) I69F probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phf20l1 T C 15: 66,476,638 (GRCm39) I245T probably benign Het
Prmt8 C T 6: 127,666,792 (GRCm39) R394H possibly damaging Het
Prorp A G 12: 55,355,430 (GRCm39) probably null Het
Prpf4b T A 13: 35,067,994 (GRCm39) D274E unknown Het
Psmd6 A T 14: 14,112,225 (GRCm38) probably null Het
Rgs16 T C 1: 153,617,416 (GRCm39) L69P probably damaging Het
Robo3 A T 9: 37,336,020 (GRCm39) I482N probably damaging Het
Scara3 C T 14: 66,168,715 (GRCm39) V301I possibly damaging Het
Serpina1b T A 12: 103,694,553 (GRCm39) H397L probably benign Het
Skint11 T A 4: 114,088,944 (GRCm39) L246Q probably damaging Het
Skint5 T A 4: 113,396,536 (GRCm39) R1212S unknown Het
Slc11a2 T C 15: 100,300,213 (GRCm39) D348G probably benign Het
Slc15a2 T C 16: 36,576,643 (GRCm39) K495E probably benign Het
Son T G 16: 91,458,990 (GRCm39) D2072E unknown Het
Stau1 A G 2: 166,805,494 (GRCm39) V34A probably damaging Het
Stk3 G T 15: 35,073,262 (GRCm39) L153I possibly damaging Het
Swi5 A T 2: 32,177,922 (GRCm39) V13E probably benign Het
Syne2 A T 12: 76,078,172 (GRCm39) probably null Het
Synm T C 7: 67,384,663 (GRCm39) M558V probably benign Het
Tep1 T A 14: 51,062,013 (GRCm39) probably null Het
Tmc6 A G 11: 117,667,151 (GRCm39) V149A probably benign Het
Tmem214 T A 5: 31,028,065 (GRCm39) V95E possibly damaging Het
Tnnt2 T A 1: 135,778,114 (GRCm39) probably null Het
Txlna A G 4: 129,525,071 (GRCm39) probably null Het
Vmn2r26 T C 6: 124,038,948 (GRCm39) I841T probably damaging Het
Wasf2 G A 4: 132,923,045 (GRCm39) V452I probably damaging Het
Wdr62 C T 7: 29,951,761 (GRCm39) D673N probably damaging Het
Wdr95 C T 5: 149,518,836 (GRCm39) T559I probably benign Het
Zbtb40 A T 4: 136,726,937 (GRCm39) probably null Het
Zfat T C 15: 68,051,856 (GRCm39) E646G probably benign 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
R8200:Ache UTSW 5 137,292,457 (GRCm39) missense probably damaging 1.00
R8338:Ache UTSW 5 137,290,006 (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'- CAGATCCCAAAGTGGTTGCC -3'
(R):5'- GCCAGTCTGTGTAATGCAGGAC -3'

Sequencing Primer
(F):5'- AAAGTGGTTGCCGGGCG -3'
(R):5'- TCTGTGTAATGCAGGACCACAGC -3'
Posted On 2019-06-26