Mutagenetix > Incidental Mutation

Incidental Mutation 'R8354:Abhd12'

660581

Institutional Source

Beutler Lab

Gene Symbol

Abhd12

Ensembl Gene

ENSMUSG00000032046

Gene Name

abhydrolase domain containing 12

Synonyms

1500011G07Rik, 6330583M11Rik

MMRRC Submission

067806-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R8354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150674413-150746661 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150676297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 353 (S353R)

Ref Sequence

ENSEMBL: ENSMUSP00000053558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045441] [ENSMUST00000056149] [ENSMUST00000141899]

AlphaFold

Q99LR1

Predicted Effect

probably benign
Transcript: ENSMUST00000045441

SMART Domains

Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059

Domain	Start	End	E-Value	Type
Pfam:Phosphorylase	113	829	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000056149
AA Change: S353R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046
AA Change: S353R

Domain	Start	End	E-Value	Type
low complexity region	15	36	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Hydrolase_4	165	297	1.2e-16	PFAM
Pfam:Abhydrolase_1	169	302	1.6e-13	PFAM
Pfam:Abhydrolase_5	170	359	2.5e-22	PFAM
Pfam:Abhydrolase_6	171	363	1.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141899

SMART Domains

Protein: ENSMUSP00000122763
Gene: ENSMUSG00000032046

Domain	Start	End	E-Value	Type
low complexity region	15	36	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Abhydrolase_5	170	295	1.9e-16	PFAM
Pfam:Abhydrolase_6	171	293	3.8e-15	PFAM
Pfam:Abhydrolase_3	171	295	1.1e-6	PFAM
Pfam:Abhydrolase_1	198	271	1.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145826

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neurological symptoms of neurodegeneration, hearing loss, ataxia, microgliosis and reduced brain lysophosphatidylserine lipase activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1ar	T	C	3: 127,606,428 (GRCm39)		probably null	Het
Asxl1	C	A	2: 153,235,345 (GRCm39)	N213K	probably benign	Het
Cacna1e	A	G	1: 154,274,314 (GRCm39)	V2197A	probably damaging	Het
Cacna2d2	G	A	9: 107,401,334 (GRCm39)	E706K	possibly damaging	Het
Cfap46	C	T	7: 139,233,414 (GRCm39)	V296I	probably benign	Het
Cldn5	A	G	16: 18,596,043 (GRCm39)	T100A	probably benign	Het
Ctnna1	C	A	18: 35,385,776 (GRCm39)	N802K	possibly damaging	Het
Dennd2b	G	A	7: 109,124,755 (GRCm39)	R675*	probably null	Het
Dip2c	A	G	13: 9,671,918 (GRCm39)	T968A	probably benign	Het
Dnaaf5	ACCCAGCACCTGGAGATCGTCC	ACC	5: 139,147,614 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,862,234 (GRCm39)	D203V	probably benign	Het
Dnajc13	A	G	9: 104,094,927 (GRCm39)	M585T	probably damaging	Het
Donson	G	T	16: 91,480,685 (GRCm39)	T262K	possibly damaging	Het
E2f3	T	A	13: 30,169,787 (GRCm39)		probably benign	Het
Fam110c	A	G	12: 31,125,178 (GRCm39)	E380G	possibly damaging	Het
Gbp9	T	G	5: 105,242,027 (GRCm39)	T177P	probably damaging	Het
Gins3	C	T	8: 96,364,646 (GRCm39)	A132V	probably benign	Het
Glra3	T	A	8: 56,578,345 (GRCm39)	Y467*	probably null	Het
Gm7138	A	G	10: 77,612,444 (GRCm39)		probably benign	Het
Golim4	T	C	3: 75,802,308 (GRCm39)	E328G	probably damaging	Het
Habp2	T	A	19: 56,301,388 (GRCm39)	C270*	probably null	Het
Hecw2	A	G	1: 53,964,467 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,634,142 (GRCm39)	Y815N	possibly damaging	Het
Igfn1	A	T	1: 135,887,619 (GRCm39)	C2482S	possibly damaging	Het
Igkv4-71	A	G	6: 69,220,260 (GRCm39)	V57A	probably damaging	Het
Itpkb	G	A	1: 180,160,908 (GRCm39)	E345K	possibly damaging	Het
Itpr3	G	A	17: 27,334,893 (GRCm39)	V2136M	possibly damaging	Het
Kcnh3	A	G	15: 99,127,211 (GRCm39)	T336A	probably damaging	Het
Kdm4d	T	C	9: 14,375,235 (GRCm39)	T208A	possibly damaging	Het
Kntc1	T	C	5: 123,916,330 (GRCm39)	F721S	probably damaging	Het
Krt10	A	G	11: 99,280,086 (GRCm39)		probably benign	Het
Lgals3bp	T	A	11: 118,289,367 (GRCm39)	N28I	probably damaging	Het
Matn2	T	C	15: 34,378,843 (GRCm39)	L293P	probably damaging	Het
Mical3	T	C	6: 120,950,381 (GRCm39)	E1010G	probably damaging	Het
Mpp4	C	A	1: 59,169,224 (GRCm39)	R380L	probably damaging	Het
Msh5	A	G	17: 35,250,742 (GRCm39)	F469L	possibly damaging	Het
Ncam2	A	G	16: 81,309,847 (GRCm39)	T446A	probably benign	Het
Neurl4	A	G	11: 69,800,062 (GRCm39)	D1050G	probably damaging	Het
Olfml2b	T	C	1: 170,509,793 (GRCm39)	Y714H	possibly damaging	Het
Or5d43	T	C	2: 88,105,036 (GRCm39)	D119G	probably damaging	Het
Or8c17	T	C	9: 38,180,513 (GRCm39)	S235P	probably benign	Het
Pcnx2	T	C	8: 126,488,357 (GRCm39)	E1729G	probably damaging	Het
Peg10	GCACATCAGGATCC	GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pex1	T	A	5: 3,681,707 (GRCm39)	L1051Q	probably damaging	Het
Prkag2	T	A	5: 25,074,137 (GRCm39)	R283*	probably null	Het
Prrc1	T	A	18: 57,504,503 (GRCm39)	M238K	probably damaging	Het
Ptprj	T	C	2: 90,300,061 (GRCm39)	T247A	probably benign	Het
Ptprz1	A	G	6: 22,999,614 (GRCm39)	Y568C	probably damaging	Het
Rab36	G	A	10: 74,884,291 (GRCm39)	A114T	probably damaging	Het
Rfx7	T	C	9: 72,526,731 (GRCm39)	V1307A	probably benign	Het
Scaf1	A	C	7: 44,657,251 (GRCm39)		probably benign	Het
Sema4g	A	T	19: 44,986,866 (GRCm39)	T440S	probably benign	Het
Setbp1	A	T	18: 78,900,598 (GRCm39)	V1023E	probably damaging	Het
Slc46a2	T	C	4: 59,913,931 (GRCm39)	I331V	possibly damaging	Het
Slc4a7	C	T	14: 14,786,313 (GRCm38)	R1000C	probably damaging	Het
Sorcs2	T	C	5: 36,222,753 (GRCm39)	H162R	probably benign	Het
Spata31f1e	T	A	4: 42,793,223 (GRCm39)	H303L	probably benign	Het
Strip2	G	A	6: 29,920,531 (GRCm39)		probably null	Het
Stx2	T	A	5: 129,071,932 (GRCm39)	I42L	probably benign	Het
Tas2r124	A	T	6: 132,732,410 (GRCm39)	T240S	probably benign	Het
Tgfbrap1	A	T	1: 43,115,070 (GRCm39)	V10D	probably damaging	Het
Tmem41a	T	A	16: 21,766,181 (GRCm39)	Y19F	probably benign	Het
Tmprss5	A	G	9: 49,018,439 (GRCm39)	T74A	possibly damaging	Het
Trim16	G	T	11: 62,727,587 (GRCm39)	R216L	probably benign	Het
Trmt10c	T	C	16: 55,854,870 (GRCm39)	K255R	probably benign	Het
Trpm2	A	T	10: 77,769,483 (GRCm39)	V747E	probably damaging	Het
Ube2v2	T	C	16: 15,399,005 (GRCm39)	D28G	possibly damaging	Het
Uty	G	A	Y: 1,157,928 (GRCm39)	T705I	possibly damaging	Het
Vmn2r80	A	T	10: 78,984,710 (GRCm39)	I21F	probably benign	Het
Wdr11	T	C	7: 129,204,723 (GRCm39)	L176S	probably damaging	Het
Zfp992	A	G	4: 146,551,319 (GRCm39)	T347A	probably benign	Het

Other mutations in Abhd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02158:Abhd12	APN	2	150,690,341 (GRCm39)	missense	probably benign	0.00
IGL02399:Abhd12	APN	2	150,700,413 (GRCm39)	splice site	probably benign
IGL02437:Abhd12	APN	2	150,676,289 (GRCm39)	missense	probably benign	0.01
IGL02981:Abhd12	APN	2	150,675,044 (GRCm39)	missense	probably benign
R0423:Abhd12	UTSW	2	150,680,312 (GRCm39)	missense	possibly damaging	0.89
R0617:Abhd12	UTSW	2	150,688,285 (GRCm39)	critical splice acceptor site	probably null
R0745:Abhd12	UTSW	2	150,675,068 (GRCm39)	splice site	probably null
R1651:Abhd12	UTSW	2	150,690,341 (GRCm39)	missense	probably benign	0.00
R1829:Abhd12	UTSW	2	150,685,318 (GRCm39)	missense	probably damaging	1.00
R1832:Abhd12	UTSW	2	150,690,338 (GRCm39)	missense	probably damaging	0.97
R1833:Abhd12	UTSW	2	150,690,338 (GRCm39)	missense	probably damaging	0.97
R2298:Abhd12	UTSW	2	150,743,414 (GRCm39)	intron	probably benign
R3153:Abhd12	UTSW	2	150,676,275 (GRCm39)	missense	probably benign	0.21
R4077:Abhd12	UTSW	2	150,690,379 (GRCm39)	critical splice acceptor site	probably null
R4508:Abhd12	UTSW	2	150,746,275 (GRCm39)	critical splice donor site	probably benign
R5193:Abhd12	UTSW	2	150,677,226 (GRCm39)	makesense	probably null
R5898:Abhd12	UTSW	2	150,681,698 (GRCm39)	missense	possibly damaging	0.89
R6250:Abhd12	UTSW	2	150,681,667 (GRCm39)	missense	probably damaging	1.00
R8334:Abhd12	UTSW	2	150,700,373 (GRCm39)	missense	probably benign
R8967:Abhd12	UTSW	2	150,679,351 (GRCm39)	missense	probably damaging	1.00
R9597:Abhd12	UTSW	2	150,688,198 (GRCm39)	missense	probably benign
Z1177:Abhd12	UTSW	2	150,746,334 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GACTGTCACTTGCTGCACAG -3'
(R):5'- ACTTTATGGACGTGGCAATGC -3'

Sequencing Primer
(F):5'- CTGCACAGCTAGGTGTGAG -3'
(R):5'- AGACTCTGGCTTCTTGGACCTG -3'

Posted On

2021-01-18