Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02437:Abhd12'

293338

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abhd12

Ensembl Gene

ENSMUSG00000032046

Gene Name

abhydrolase domain containing 12

Synonyms

1500011G07Rik, 6330583M11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

IGL02437

Quality Score

Status

Chromosome

Chromosomal Location

150674413-150746661 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150676289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 356 (D356G)

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 benign
Transcript: ENSMUST00000056149
AA Change: D356G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046
AA Change: D356G

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: ENSMUST00000135717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138608

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156641

Coding Region Coverage

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abca16	T	G	7: 120,132,952 (GRCm39)	C1294G	probably benign	Het
Abca7	T	A	10: 79,844,223 (GRCm39)	S1410T	probably damaging	Het
BC004004	T	C	17: 29,517,671 (GRCm39)	L295P	probably damaging	Het
Bpifc	T	C	10: 85,824,595 (GRCm39)	S215G	probably damaging	Het
Bptf	C	T	11: 106,965,521 (GRCm39)	M1109I	probably benign	Het
Brat1	C	T	5: 140,698,563 (GRCm39)	A245V	possibly damaging	Het
Cask	G	A	X: 13,403,860 (GRCm39)	T16I	probably damaging	Het
Cemip2	T	C	19: 21,789,342 (GRCm39)		probably null	Het
Cibar2	T	C	8: 120,901,525 (GRCm39)	E60G	probably damaging	Het
Clic6	A	T	16: 92,327,817 (GRCm39)	I541F	probably damaging	Het
Clnk	C	T	5: 38,931,909 (GRCm39)		probably null	Het
Cntnap1	T	A	11: 101,077,677 (GRCm39)	I1113N	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp26a1	T	C	19: 37,686,943 (GRCm39)	S132P	probably benign	Het
Cyp4f13	G	T	17: 33,149,582 (GRCm39)	H85N	probably benign	Het
Dcaf15	C	T	8: 84,828,445 (GRCm39)	G215D	probably damaging	Het
Dip2a	T	C	10: 76,134,101 (GRCm39)	T500A	probably benign	Het
Gbe1	T	A	16: 70,231,546 (GRCm39)		probably benign	Het
Gli2	T	A	1: 118,763,733 (GRCm39)	I1473F	probably damaging	Het
Gm5129	A	T	5: 29,940,861 (GRCm39)		probably benign	Het
Hdgf	C	T	3: 87,821,792 (GRCm39)	R168C	probably damaging	Het
Heph	A	G	X: 95,516,633 (GRCm39)	T342A	probably benign	Het
Kdelr3	T	C	15: 79,409,988 (GRCm39)	Y158H	probably damaging	Het
Lamb3	C	T	1: 193,010,253 (GRCm39)	R289C	probably damaging	Het
Leng8	C	T	7: 4,145,092 (GRCm39)	A164V	probably damaging	Het
Ltn1	T	C	16: 87,194,889 (GRCm39)	T1337A	probably benign	Het
Mast3	C	A	8: 71,233,202 (GRCm39)	R316L	possibly damaging	Het
Nampt	A	G	12: 32,880,215 (GRCm39)	Y36C	probably damaging	Het
Ncapd3	T	A	9: 26,975,264 (GRCm39)		probably benign	Het
Nipbl	T	C	15: 8,388,558 (GRCm39)	D354G	probably damaging	Het
Nsd1	A	T	13: 55,461,254 (GRCm39)	R2494W	probably damaging	Het
Nt5c1a	A	G	4: 123,108,034 (GRCm39)	N239S	probably benign	Het
Ogfr	A	G	2: 180,231,329 (GRCm39)	E19G	possibly damaging	Het
Or11h4b	A	T	14: 50,918,657 (GRCm39)	S145T	probably benign	Het
Or4c58	A	G	2: 89,675,128 (GRCm39)	L63P	probably damaging	Het
Pcna	A	T	2: 132,093,155 (GRCm39)		probably benign	Het
Pdia3	T	A	2: 121,264,129 (GRCm39)	V326E	probably damaging	Het
Phf8	T	A	X: 150,414,356 (GRCm39)	L1002Q	possibly damaging	Het
Rhobtb2	T	C	14: 70,033,365 (GRCm39)	E535G	probably damaging	Het
Rusc2	G	T	4: 43,415,545 (GRCm39)	D284Y	probably damaging	Het
Samd8	A	G	14: 21,825,491 (GRCm39)	Y212C	probably benign	Het
Sash3	C	A	X: 47,247,672 (GRCm39)	Q169K	probably benign	Het
Scyl1	C	T	19: 5,816,224 (GRCm39)	G324S	probably damaging	Het
Sec62	G	A	3: 30,872,996 (GRCm39)	G360R	unknown	Het
Sis	T	C	3: 72,826,947 (GRCm39)		probably null	Het
Slc6a1	T	A	6: 114,285,578 (GRCm39)	I338N	probably damaging	Het
Snrnp200	A	G	2: 127,058,030 (GRCm39)	D264G	probably damaging	Het
Tgm3	G	T	2: 129,871,961 (GRCm39)		probably null	Het
Tnrc6b	T	G	15: 80,764,658 (GRCm39)	L720R	probably damaging	Het
Tspyl4	A	T	10: 34,174,228 (GRCm39)	Q240L	probably damaging	Het
Tube1	G	A	10: 39,016,846 (GRCm39)	V80I	probably damaging	Het
Uap1l1	C	T	2: 25,253,945 (GRCm39)	V304M	probably damaging	Het
Wtap	T	C	17: 13,186,620 (GRCm39)	N309S	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfyve26	T	C	12: 79,315,621 (GRCm39)	D1285G	probably benign	Het
Zscan20	G	A	4: 128,482,210 (GRCm39)	T484I	probably damaging	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
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
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

Posted On

2015-04-16