Mutagenetix > Incidental Mutation

Incidental Mutation 'R6250:Abhd12'

505895

Institutional Source

Beutler Lab

Gene Symbol

Abhd12

Ensembl Gene

ENSMUSG00000032046

Gene Name

abhydrolase domain containing 12

Synonyms

1500011G07Rik, 6330583M11Rik

MMRRC Submission

044367-MU

Accession Numbers

Essential gene?

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

Stock #

R6250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150674413-150746661 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150681667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 241 (Y241C)

Ref Sequence

ENSEMBL: ENSMUSP00000122763 (fasta)

Gene Model

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

AlphaFold

Q99LR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000056149
AA Change: Y241C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046
AA Change: Y241C

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

noncoding transcript
Transcript: ENSMUST00000138608

Predicted Effect

probably damaging
Transcript: ENSMUST00000141899
AA Change: Y241C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122763
Gene: ENSMUSG00000032046
AA Change: Y241C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156641

Meta Mutation Damage Score

0.8499

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	T	C	10: 41,265,030 (GRCm39)	V929A	possibly damaging	Het
Ap3s1	T	C	18: 46,887,514 (GRCm39)	F49S	probably damaging	Het
Atp9b	T	C	18: 80,799,736 (GRCm39)	H801R	probably benign	Het
B430218F22Rik	A	G	13: 118,523,944 (GRCm39)		probably benign	Het
Ccnd3	T	A	17: 47,908,487 (GRCm39)	L186*	probably null	Het
Cnbd1	T	A	4: 19,098,255 (GRCm39)	Q55L	probably benign	Het
Commd10	A	G	18: 47,096,755 (GRCm39)	E54G	probably damaging	Het
Cplx3	A	G	9: 57,522,907 (GRCm39)	V151A	probably benign	Het
D6Ertd527e	G	A	6: 87,088,194 (GRCm39)	G119D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Disp2	A	T	2: 118,621,247 (GRCm39)	I660F	probably damaging	Het
Eef1a2	A	G	2: 180,792,853 (GRCm39)	F211L	possibly damaging	Het
Epb41	A	T	4: 131,717,184 (GRCm39)	F323L	probably damaging	Het
Eps8l3	A	T	3: 107,797,781 (GRCm39)	I403F	probably benign	Het
Ercc5	T	A	1: 44,203,209 (GRCm39)	V282D	probably damaging	Het
Faim	A	T	9: 98,874,176 (GRCm39)	M1L	probably benign	Het
Fbxo24	A	G	5: 137,619,543 (GRCm39)	F111L	probably damaging	Het
Fcgbpl1	G	A	7: 27,850,139 (GRCm39)	G1195D	probably damaging	Het
Glrx	A	T	13: 75,988,229 (GRCm39)	I48F	probably damaging	Het
Gucy2g	A	T	19: 55,205,856 (GRCm39)	L668Q	probably damaging	Het
Hectd4	A	G	5: 121,477,561 (GRCm39)	D2828G	possibly damaging	Het
Hivep2	T	C	10: 14,007,503 (GRCm39)	V1367A	probably benign	Het
Hrob	A	G	11: 102,145,888 (GRCm39)	T55A	probably benign	Het
Ipo13	A	G	4: 117,769,351 (GRCm39)	V147A	possibly damaging	Het
Jchain	T	C	5: 88,674,034 (GRCm39)	T37A	probably benign	Het
Kif1b	A	G	4: 149,298,100 (GRCm39)	V1034A	probably benign	Het
Krt25	T	A	11: 99,211,989 (GRCm39)	N216I	probably damaging	Het
Mfsd4b1	T	C	10: 39,879,106 (GRCm39)	S264G	possibly damaging	Het
Mxra8	G	T	4: 155,925,546 (GRCm39)	R82L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,625 (GRCm39)	I406N	probably benign	Het
Or13c7	T	C	4: 43,854,363 (GRCm39)	L18P	possibly damaging	Het
Or2y11	A	T	11: 49,442,711 (GRCm39)	I46F	probably damaging	Het
Or5h23	G	A	16: 58,906,195 (GRCm39)	S217F	probably damaging	Het
Pak5	T	C	2: 136,016,189 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,426 (GRCm39)	R222G	probably benign	Het
Pik3cb	A	C	9: 98,976,651 (GRCm39)	F149V	probably benign	Het
Plscr4	G	A	9: 92,366,881 (GRCm39)	R165Q	possibly damaging	Het
Ppp2r2a	A	T	14: 67,276,403 (GRCm39)	V34E	probably damaging	Het
Prpf8	T	G	11: 75,384,334 (GRCm39)	S659R	possibly damaging	Het
Ptprd	A	G	4: 76,047,232 (GRCm39)	S342P	probably damaging	Het
Pum2	T	C	12: 8,794,755 (GRCm39)		probably null	Het
Ranbp3	T	G	17: 56,984,208 (GRCm39)		probably null	Het
Rassf7	A	G	7: 140,797,156 (GRCm39)	E123G	probably damaging	Het
Rcor1	G	T	12: 111,078,311 (GRCm39)	A469S	probably benign	Het
Rcor3	G	T	1: 191,785,196 (GRCm39)	P524Q	probably damaging	Het
Rnf44	A	T	13: 54,829,920 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,505,658 (GRCm39)	V37A	unknown	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Setbp1	T	C	18: 78,901,217 (GRCm39)	T817A	probably benign	Het
Setd1a	A	G	7: 127,390,471 (GRCm39)	E506G	unknown	Het
Slc30a8	G	A	15: 52,198,545 (GRCm39)	R330Q	probably benign	Het
Snx22	C	A	9: 65,976,923 (GRCm39)	E14*	probably null	Het
Spata31d1a	A	G	13: 59,849,615 (GRCm39)	S838P	possibly damaging	Het
Sprr4	G	T	3: 92,407,770 (GRCm39)	Q11K	unknown	Het
Trpm3	A	G	19: 22,887,418 (GRCm39)	N839S	probably benign	Het
Vps9d1	T	C	8: 123,974,947 (GRCm39)		probably null	Het
Vwa3b	T	C	1: 37,090,966 (GRCm39)		probably null	Het
Ythdf1	T	C	2: 180,552,893 (GRCm39)	T414A	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		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
R8334:Abhd12	UTSW	2	150,700,373 (GRCm39)	missense	probably benign
R8354:Abhd12	UTSW	2	150,676,297 (GRCm39)	missense	probably damaging	0.97
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'- CCATGCCCATATTGGTTCTAAGG -3'
(R):5'- TCATGGGGCAGCTTTCACTG -3'

Sequencing Primer
(F):5'- AGGCACTTCTGAACTTCAGTC -3'
(R):5'- CACTGGAGCTGCTGTAAGTTCAC -3'

Posted On

2018-02-28