Mutagenetix > Incidental Mutation

Incidental Mutation 'R8933:Ache'

680434

Institutional Source

Beutler Lab

Gene Symbol

Ache

Ensembl Gene

ENSMUSG00000023328

Gene Name

acetylcholinesterase

Synonyms

MMRRC Submission

068709-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R8933 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137286516-137292728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 137288449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 52 (R52S)

Ref Sequence

ENSEMBL: ENSMUSP00000142427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024099] [ENSMUST00000052825] [ENSMUST00000085934] [ENSMUST00000125195] [ENSMUST00000132191] [ENSMUST00000137126] [ENSMUST00000138591] [ENSMUST00000141123] [ENSMUST00000196208]

AlphaFold

P21836

Predicted Effect

probably benign
Transcript: ENSMUST00000024099
AA Change: R52S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000024099
Gene: ENSMUSG00000023328
AA Change: R52S

Domain	Start	End	E-Value	Type
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: ENSMUST00000052825

SMART Domains

Protein: ENSMUSP00000056156
Gene: ENSMUSG00000051502

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C78	27	212	5.4e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085934
AA Change: R52S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000083097
Gene: ENSMUSG00000023328
AA Change: R52S

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000196208
AA Change: R52S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142427
Gene: ENSMUSG00000023328
AA Change: R52S

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,921,786 (GRCm39)	I1114N	probably damaging	Het
AI182371	A	T	2: 34,975,714 (GRCm39)		probably null	Het
Ankrd17	T	C	5: 90,406,325 (GRCm39)	S1453G	probably damaging	Het
Arvcf	A	G	16: 18,218,845 (GRCm39)	N508S	probably damaging	Het
Aurkc	A	C	7: 7,005,796 (GRCm39)	D136A	possibly damaging	Het
Bfsp2	A	G	9: 103,325,848 (GRCm39)	M265T	probably benign	Het
Bmpr1b	T	C	3: 141,562,369 (GRCm39)	T273A	probably damaging	Het
Cacnb1	T	C	11: 97,896,578 (GRCm39)	K406R	probably damaging	Het
Calcoco2	C	T	11: 95,998,252 (GRCm39)		probably benign	Het
Capza1	T	C	3: 104,748,209 (GRCm39)		probably null	Het
Ccdc63	T	A	5: 122,251,265 (GRCm39)	I382F	probably damaging	Het
Cep350	A	T	1: 155,739,161 (GRCm39)	N2227K	probably benign	Het
Chia1	T	A	3: 106,036,333 (GRCm39)	Y304*	probably null	Het
Col5a2	G	A	1: 45,461,123 (GRCm39)	P258L		Het
Cyp21a1	A	G	17: 35,023,285 (GRCm39)	L30P	probably damaging	Het
Dennd4b	T	A	3: 90,186,523 (GRCm39)	H1351Q	probably benign	Het
Dnah9	T	A	11: 65,746,078 (GRCm39)	I4012F	possibly damaging	Het
Drd1	A	G	13: 54,207,290 (GRCm39)	I301T	possibly damaging	Het
Dzip1	T	A	14: 119,144,326 (GRCm39)	H369L	probably damaging	Het
Fgfrl1	T	A	5: 108,851,257 (GRCm39)	M58K	probably damaging	Het
Ftsj3	G	T	11: 106,141,660 (GRCm39)	D529E	probably benign	Het
Fut9	A	T	4: 25,619,861 (GRCm39)	W318R	probably damaging	Het
Gabrg3	A	G	7: 56,634,706 (GRCm39)	I159T	probably damaging	Het
Gabrr1	A	T	4: 33,146,972 (GRCm39)	D53V	probably benign	Het
Ggps1	A	G	13: 14,228,928 (GRCm39)	V85A	probably benign	Het
Gm5141	C	T	13: 62,924,854 (GRCm39)	W18*	probably null	Het
Grik5	T	A	7: 24,722,743 (GRCm39)	T518S	probably benign	Het
Hapln3	A	T	7: 78,767,378 (GRCm39)		probably benign	Het
Hbs1l	C	T	10: 21,243,584 (GRCm39)	Q646*	probably null	Het
Hmox1	T	C	8: 75,823,644 (GRCm39)	I104T	probably benign	Het
Ifit1bl1	T	C	19: 34,571,413 (GRCm39)	Y348C	probably damaging	Het
Igf2r	A	T	17: 12,920,131 (GRCm39)	S1403T	probably damaging	Het
Igf2r	G	A	17: 12,923,524 (GRCm39)	T1186M	probably damaging	Het
Igfbp1	T	C	11: 7,148,333 (GRCm39)		probably null	Het
Ikbip	C	A	10: 90,919,092 (GRCm39)	A35E	probably benign	Het
Isca1	C	T	13: 59,917,497 (GRCm39)	A8T	probably damaging	Het
Itgb2	T	C	10: 77,401,022 (GRCm39)	L754P	probably damaging	Het
Itgb6	C	T	2: 60,458,247 (GRCm39)	C502Y	probably damaging	Het
Kdm3a	A	G	6: 71,577,092 (GRCm39)	V741A	probably benign	Het
Kdsr	T	C	1: 106,680,949 (GRCm39)	D83G	possibly damaging	Het
Kiz	T	A	2: 146,784,037 (GRCm39)	N523K		Het
Kmt2a	T	C	9: 44,733,802 (GRCm39)		probably benign	Het
Krt25	T	C	11: 99,212,064 (GRCm39)	E191G	probably benign	Het
Lipn	A	G	19: 34,046,880 (GRCm39)	I61V	probably damaging	Het
Lmbr1l	T	A	15: 98,807,150 (GRCm39)		probably null	Het
Lrrc4c	A	G	2: 97,459,826 (GRCm39)	K151E	probably benign	Het
Mab21l3	T	C	3: 101,730,774 (GRCm39)	Q155R	probably benign	Het
Mtfr2	G	A	10: 20,233,274 (GRCm39)	R281H	possibly damaging	Het
Muc5ac	A	G	7: 141,343,493 (GRCm39)	Y35C	possibly damaging	Het
Myadm	C	T	7: 3,345,433 (GRCm39)	T65I	probably benign	Het
Nap1l1	T	C	10: 111,328,710 (GRCm39)	V213A	probably benign	Het
Nav2	A	G	7: 49,111,705 (GRCm39)	D737G	probably damaging	Het
Ndst4	T	A	3: 125,405,155 (GRCm39)	V470D	probably damaging	Het
Nek5	T	A	8: 22,601,226 (GRCm39)	Y165F	probably damaging	Het
Nek5	A	T	8: 22,610,859 (GRCm39)	V48E	probably damaging	Het
Nr6a1	T	C	2: 38,650,400 (GRCm39)	I77V	probably damaging	Het
Nvl	A	T	1: 180,966,638 (GRCm39)	D93E	probably benign	Het
Or11a4	C	A	17: 37,536,346 (GRCm39)	T110K	possibly damaging	Het
Or2q1	A	G	6: 42,794,950 (GRCm39)	T182A	probably benign	Het
Or52e5	A	G	7: 104,718,599 (GRCm39)		probably benign	Het
Or52k2	A	T	7: 102,253,637 (GRCm39)	L25F	probably damaging	Het
Or52p1	A	T	7: 104,266,873 (GRCm39)	T4S	probably benign	Het
Or6c68	A	T	10: 129,158,259 (GRCm39)	I256F	probably damaging	Het
Pla2g4c	G	A	7: 13,073,627 (GRCm39)	V225I	probably benign	Het
Plppr4	T	A	3: 117,116,690 (GRCm39)	N331I	probably damaging	Het
Ptpn13	A	G	5: 103,727,671 (GRCm39)	R2051G	probably benign	Het
Rbm45	T	C	2: 76,209,068 (GRCm39)	S346P	probably damaging	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Slc15a1	C	T	14: 121,724,091 (GRCm39)	G172R	probably benign	Het
Slco3a1	G	T	7: 73,934,248 (GRCm39)	Y641*	probably null	Het
Srcap	G	A	7: 127,151,566 (GRCm39)	R2027H	probably damaging	Het
Stra8	A	T	6: 34,904,624 (GRCm39)		probably benign	Het
Syt11	T	C	3: 88,655,011 (GRCm39)	Y430C	probably damaging	Het
Tanc1	T	G	2: 59,615,800 (GRCm39)	V269G	possibly damaging	Het
Tead1	A	G	7: 112,497,818 (GRCm39)	N342S	probably benign	Het
Tenm3	C	T	8: 48,732,095 (GRCm39)	A1254T	possibly damaging	Het
Txlnb	A	T	10: 17,682,546 (GRCm39)	N156I	probably damaging	Het
Ufl1	A	T	4: 25,262,258 (GRCm39)	S409R	possibly damaging	Het
Usp17la	A	G	7: 104,510,307 (GRCm39)	H304R	probably benign	Het
Vmn1r203	T	A	13: 22,708,691 (GRCm39)	H157Q	possibly damaging	Het
Vmn1r37	C	T	6: 66,709,231 (GRCm39)	R249*	probably null	Het
Vmn2r96	A	G	17: 18,804,241 (GRCm39)	Q497R	probably benign	Het
Vps39	A	G	2: 120,169,066 (GRCm39)	S292P	probably benign	Het
Wnk1	A	G	6: 120,013,959 (GRCm39)	V212A	probably damaging	Het
Xbp1	T	C	11: 5,474,741 (GRCm39)	V161A	probably benign	Het
Zfp113	T	C	5: 138,143,092 (GRCm39)	Q386R	probably damaging	Het

Other mutations in Ache

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TTTCTCCCAGCAGACACCAG -3'
(R):5'- TACAGGCAGTCTTCACTCAAC -3'

Sequencing Primer
(F):5'- AGACACCAGCCTGTCCTG -3'
(R):5'- GGGGTTCCACATCTCAGTAC -3'

Posted On

2021-08-31