Mutagenetix > Incidental Mutation

Incidental Mutation 'R1833:Abhd12'

204923

Institutional Source

Beutler Lab

Gene Symbol

Abhd12

Ensembl Gene

ENSMUSG00000032046

Gene Name

abhydrolase domain containing 12

Synonyms

1500011G07Rik, 6330583M11Rik

MMRRC Submission

039860-MU

Accession Numbers

Essential gene?

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

Stock #

R1833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150674413-150746661 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150690338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 119 (D119V)

Ref Sequence

ENSEMBL: ENSMUSP00000122763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056149] [ENSMUST00000129228] [ENSMUST00000141899]

AlphaFold

Q99LR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056149
AA Change: D119V

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046
AA Change: D119V

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: ENSMUST00000129228

SMART Domains

Protein: ENSMUSP00000118501
Gene: ENSMUSG00000032046

Domain	Start	End	E-Value	Type
low complexity region	15	36	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138608

Predicted Effect

probably damaging
Transcript: ENSMUST00000141899
AA Change: D119V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122763
Gene: ENSMUSG00000032046
AA Change: D119V

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

noncoding transcript
Transcript: ENSMUST00000155119

Meta Mutation Damage Score

0.1788

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

99% (83/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,509 (GRCm39)	D143V	unknown	Het
4930438A08Rik	C	T	11: 58,179,214 (GRCm39)	Q183*	probably null	Het
9230009I02Rik	A	G	11: 50,982,293 (GRCm39)		noncoding transcript	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Agtpbp1	A	T	13: 59,613,797 (GRCm39)		probably null	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Arid4a	C	T	12: 71,122,240 (GRCm39)	L874F	possibly damaging	Het
Bcas3	G	A	11: 85,474,775 (GRCm39)	V317I	probably benign	Het
Ccr1	T	A	9: 123,764,126 (GRCm39)	I135F	probably damaging	Het
Ces2h	A	G	8: 105,747,005 (GRCm39)	E547G	possibly damaging	Het
Ces3b	T	A	8: 105,812,271 (GRCm39)	D173E	probably damaging	Het
Chd3	A	G	11: 69,244,949 (GRCm39)	L1197S	probably damaging	Het
Cngb1	A	G	8: 95,968,983 (GRCm39)	L1175P	probably damaging	Het
Cyp4f17	T	C	17: 32,743,184 (GRCm39)	F286L	probably benign	Het
Dclre1a	C	T	19: 56,529,932 (GRCm39)		probably null	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dhx16	A	G	17: 36,196,511 (GRCm39)	T560A	probably benign	Het
Dusp12	T	C	1: 170,702,022 (GRCm39)	M326V	probably benign	Het
Eif3k	T	C	7: 28,670,852 (GRCm39)	I180V	probably benign	Het
Erc1	A	G	6: 119,720,390 (GRCm39)	I437T	possibly damaging	Het
Farp2	T	A	1: 93,504,086 (GRCm39)		probably benign	Het
Foxa3	A	G	7: 18,748,499 (GRCm39)	L209P	probably damaging	Het
Garin2	G	A	12: 78,762,280 (GRCm39)		probably benign	Het
Gen1	A	T	12: 11,298,352 (GRCm39)		probably benign	Het
Gm10305	A	G	4: 99,161,363 (GRCm39)	T91A	unknown	Het
Gm14412	T	C	2: 177,007,583 (GRCm39)	D104G	probably benign	Het
Gm6900	T	C	7: 10,390,515 (GRCm39)		noncoding transcript	Het
Gpx1	A	T	9: 108,216,555 (GRCm39)	Y15F	possibly damaging	Het
H2-M10.3	T	C	17: 36,678,387 (GRCm39)	Y146C	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hephl1	T	C	9: 14,988,224 (GRCm39)	Y628C	probably damaging	Het
Hspa5	T	A	2: 34,666,065 (GRCm39)	Y636*	probably null	Het
Htt	A	G	5: 35,063,092 (GRCm39)		probably benign	Het
Idh1	T	C	1: 65,200,273 (GRCm39)	I364V	probably benign	Het
Itgae	G	T	11: 73,007,988 (GRCm39)	A423S	possibly damaging	Het
Kng2	T	C	16: 22,830,802 (GRCm39)	N169S	possibly damaging	Het
Larp4b	C	T	13: 9,201,235 (GRCm39)	T369I	possibly damaging	Het
Lcor	T	C	19: 41,573,387 (GRCm39)	I714T	probably benign	Het
Lhfpl7	A	G	5: 113,382,435 (GRCm39)		probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Magi2	G	T	5: 19,432,455 (GRCm39)	G57C	probably damaging	Het
Mdn1	T	A	4: 32,720,761 (GRCm39)	H2291Q	probably damaging	Het
Mgam	T	C	6: 40,631,652 (GRCm39)		probably null	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Msx2	A	T	13: 53,622,221 (GRCm39)	M263K	probably damaging	Het
Nectin2	G	T	7: 19,451,633 (GRCm39)	P467H	probably damaging	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nlrp4b	A	T	7: 10,459,863 (GRCm39)	M455L	probably benign	Het
Oaz3	TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG	TGGAGGCAGGAGCACGGGAGGCAG	3: 94,343,349 (GRCm39)		probably benign	Het
Or10ad1b	T	A	15: 98,124,846 (GRCm39)	I227F	probably damaging	Het
Or4c10	T	A	2: 89,760,645 (GRCm39)	L164*	probably null	Het
Pcx	T	A	19: 4,669,132 (GRCm39)	V710E	probably damaging	Het
Pkn2	C	T	3: 142,527,408 (GRCm39)	R347Q	probably damaging	Het
Pramel51	T	C	12: 88,145,218 (GRCm39)	E44G	possibly damaging	Het
Qsox1	C	T	1: 155,666,791 (GRCm39)	G233S	probably benign	Het
Rbl1	T	A	2: 157,037,475 (GRCm39)	N224I	probably damaging	Het
Rspry1	A	G	8: 95,362,116 (GRCm39)	T132A	probably damaging	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sema4f	A	T	6: 82,895,540 (GRCm39)	L331H	probably benign	Het
Sf3b3	T	A	8: 111,544,198 (GRCm39)	Q814L	probably benign	Het
Slc19a2	T	G	1: 164,089,753 (GRCm39)	Y190D	probably damaging	Het
Smarcc1	T	A	9: 109,982,879 (GRCm39)	H204Q	possibly damaging	Het
Sox6	T	C	7: 115,376,328 (GRCm39)	K135E	probably damaging	Het
Tecpr1	T	C	5: 144,145,426 (GRCm39)	Q607R	probably damaging	Het
Tgfb1i1	A	G	7: 127,848,670 (GRCm39)		probably benign	Het
Tirap	T	G	9: 35,099,999 (GRCm39)	R228S	probably benign	Het
Trp53bp2	T	A	1: 182,256,581 (GRCm39)	H50Q	probably damaging	Het
Try4	A	G	6: 41,280,365 (GRCm39)	H63R	probably damaging	Het
Vmn2r25	G	A	6: 123,816,643 (GRCm39)	P313S	probably benign	Het
Vps26a	A	C	10: 62,294,825 (GRCm39)	L250V	probably benign	Het
Vwf	A	G	6: 125,619,000 (GRCm39)	H1226R	probably benign	Het
Wdtc1	TCC	TC	4: 133,036,053 (GRCm39)		probably benign	Het
Zc3hav1l	A	T	6: 38,274,881 (GRCm39)		probably benign	Het
Zfp119b	T	G	17: 56,246,271 (GRCm39)	H305P	probably damaging	Het
Zfp326	C	T	5: 106,039,035 (GRCm39)	Q134*	probably null	Het
Zfp975	C	T	7: 42,311,263 (GRCm39)	R450Q	probably benign	Het
Zfyve26	A	T	12: 79,333,032 (GRCm39)	M313K	probably benign	Het
Zscan5b	T	C	7: 6,241,965 (GRCm39)	S395P	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAAGACCAATGTCAAGGGCAG -3'
(R):5'- ACCTATGCTGTGGGAATGGG -3'

Sequencing Primer
(F):5'- GTGCCTGAACTGAACTCACGTAG -3'
(R):5'- CAATACATGTATTGTGAGGGTGTATG -3'

Posted On

2014-06-23