Mutagenetix > Incidental Mutation

Incidental Mutation 'R1587:Abhd2'

177569

Institutional Source

Beutler Lab

Gene Symbol

Abhd2

Ensembl Gene

ENSMUSG00000039202

Gene Name

abhydrolase domain containing 2

Synonyms

2210009N18Rik, LABH2

MMRRC Submission

039624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R1587 (G1)

Quality Score

173

Status

Not validated

Chromosome

Chromosomal Location

78923002-79015257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79003758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 279 (H279L)

Ref Sequence

ENSEMBL: ENSMUSP00000038361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037315]

AlphaFold

Q9QXM0

Predicted Effect

probably benign
Transcript: ENSMUST00000037315
AA Change: H279L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000038361
Gene: ENSMUSG00000039202
AA Change: H279L

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
Pfam:Hydrolase_4	124	362	1.1e-10	PFAM
Pfam:Abhydrolase_1	126	383	2.3e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158828

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a gene trapped allele are overtly but exhibit enhanced migratory ability of cultured smooth muscle cells, and significant intimal hyperplasia after cuff placement. [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
A530064D06Rik	A	T	17: 48,473,585 (GRCm39)	S111T	probably benign	Het
Ablim1	C	T	19: 57,071,979 (GRCm39)	M1I	probably null	Het
Agrn	T	C	4: 156,263,897 (GRCm39)	Q122R	probably damaging	Het
Arfgef1	A	T	1: 10,230,184 (GRCm39)	F1218I	probably damaging	Het
Bud13	C	T	9: 46,201,513 (GRCm39)	P395S	probably damaging	Het
Ccdc110	G	A	8: 46,394,783 (GRCm39)	V225M	probably benign	Het
Ccdc30	A	T	4: 119,210,373 (GRCm39)	S248T	probably damaging	Het
Cdh20	C	A	1: 110,027,757 (GRCm39)	Q501K	probably damaging	Het
Cwc27	T	C	13: 104,929,145 (GRCm39)	D266G	probably benign	Het
Cyp2d40	T	A	15: 82,645,334 (GRCm39)		probably null	Het
Cyp4a32	T	G	4: 115,467,731 (GRCm39)	N238K	probably benign	Het
Ddx11	T	C	17: 66,456,251 (GRCm39)	L770P	probably damaging	Het
Dgcr8	C	T	16: 18,098,155 (GRCm39)	G412E	probably damaging	Het
Disp2	C	A	2: 118,622,064 (GRCm39)	A932D	probably damaging	Het
Dlg4	T	A	11: 69,922,572 (GRCm39)	N291K	possibly damaging	Het
Dnajc7	A	G	11: 100,492,556 (GRCm39)	I39T	probably damaging	Het
Elp1	G	A	4: 56,786,666 (GRCm39)	Q426*	probably null	Het
Eno3	T	C	11: 70,552,296 (GRCm39)	V316A	probably damaging	Het
Ep400	G	A	5: 110,874,768 (GRCm39)	T944I	probably benign	Het
Ezh2	T	G	6: 47,529,424 (GRCm39)		probably null	Het
F7	A	T	8: 13,084,783 (GRCm39)	I270F	possibly damaging	Het
Fancc	A	G	13: 63,488,246 (GRCm39)	F245L	probably benign	Het
Fzd7	G	A	1: 59,522,165 (GRCm39)	C16Y	possibly damaging	Het
Gm29394	A	G	15: 57,892,008 (GRCm39)	*200Q	probably null	Het
Ints8	A	G	4: 11,245,722 (GRCm39)		probably null	Het
Krt36	A	T	11: 99,993,128 (GRCm39)	I449N	probably damaging	Het
Ldlr	A	T	9: 21,649,209 (GRCm39)	H328L	probably damaging	Het
Limk2	T	C	11: 3,303,455 (GRCm39)	N101S	possibly damaging	Het
Lrp4	A	G	2: 91,306,650 (GRCm39)	N321S	probably benign	Het
Mafk	T	C	5: 139,785,900 (GRCm39)	S33P	probably damaging	Het
Mbtps1	T	C	8: 120,244,958 (GRCm39)	Y831C	probably damaging	Het
Mfge8	T	A	7: 78,784,513 (GRCm39)	I344F	probably damaging	Het
Myo5b	T	C	18: 74,867,061 (GRCm39)	V1430A	probably benign	Het
Nbas	G	A	12: 13,608,686 (GRCm39)	R2154H	probably benign	Het
Nlrp6	G	A	7: 140,502,959 (GRCm39)	R355H	probably damaging	Het
Noc4l	T	C	5: 110,800,889 (GRCm39)	T76A	probably benign	Het
Nrp1	T	A	8: 129,202,763 (GRCm39)	C583S	probably damaging	Het
Or2w4	C	T	13: 21,796,083 (GRCm39)	D19N	probably benign	Het
Or5d35	T	A	2: 87,855,477 (GRCm39)	M137K	probably damaging	Het
Pgm5	T	A	19: 24,793,113 (GRCm39)	I318F	probably damaging	Het
Phf1	T	A	17: 27,156,466 (GRCm39)	V536D	probably damaging	Het
Prpf4b	C	A	13: 35,076,133 (GRCm39)	A641D	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm47	A	G	5: 66,182,334 (GRCm39)	I433T	probably benign	Het
Resf1	G	T	6: 149,228,018 (GRCm39)	V355F	probably damaging	Het
S100a3	G	A	3: 90,509,618 (GRCm39)	E88K	probably benign	Het
Sesn1	A	G	10: 41,687,108 (GRCm39)	I31V	probably benign	Het
Son	T	A	16: 91,456,606 (GRCm39)	S1784R	probably damaging	Het
Srbd1	G	T	17: 86,292,865 (GRCm39)	D901E	probably damaging	Het
St8sia6	C	T	2: 13,677,416 (GRCm39)	D134N	possibly damaging	Het
Synpo2	T	A	3: 122,908,047 (GRCm39)	D423V	probably damaging	Het
Vmn2r108	A	G	17: 20,692,383 (GRCm39)	S158P	probably damaging	Het
Vmn2r109	A	T	17: 20,761,002 (GRCm39)	V785E	probably damaging	Het
Zfp143	A	G	7: 109,673,275 (GRCm39)	D124G	probably benign	Het
Zfp251	A	G	15: 76,754,484 (GRCm39)	L54P	probably damaging	Het
Zfp324	G	T	7: 12,704,570 (GRCm39)	S253I	possibly damaging	Het
Zfp59	A	G	7: 27,553,559 (GRCm39)	E337G	possibly damaging	Het
Zfp663	G	T	2: 165,195,437 (GRCm39)	Q261K	probably benign	Het
Zhx3	T	C	2: 160,623,613 (GRCm39)		probably null	Het

Other mutations in Abhd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Abhd2	APN	7	78,975,200 (GRCm39)	missense	possibly damaging	0.91
IGL03067:Abhd2	APN	7	79,009,782 (GRCm39)	missense	probably benign
Redeemer	UTSW	7	79,003,775 (GRCm39)	missense	probably benign	0.02
R0363:Abhd2	UTSW	7	79,000,561 (GRCm39)	missense	possibly damaging	0.81
R1921:Abhd2	UTSW	7	78,998,104 (GRCm39)	missense	possibly damaging	0.83
R3108:Abhd2	UTSW	7	78,973,333 (GRCm39)	missense	probably benign	0.01
R4374:Abhd2	UTSW	7	78,973,278 (GRCm39)	missense	probably benign	0.00
R4621:Abhd2	UTSW	7	78,975,235 (GRCm39)	missense	probably damaging	1.00
R4763:Abhd2	UTSW	7	79,009,879 (GRCm39)	missense	probably benign	0.00
R5217:Abhd2	UTSW	7	78,973,378 (GRCm39)	missense	probably benign
R5599:Abhd2	UTSW	7	78,946,746 (GRCm39)	splice site	probably null
R6972:Abhd2	UTSW	7	79,003,775 (GRCm39)	missense	probably benign	0.02
R7617:Abhd2	UTSW	7	78,998,032 (GRCm39)	missense	probably benign	0.10
R7957:Abhd2	UTSW	7	78,975,194 (GRCm39)	missense	probably benign	0.42
R8062:Abhd2	UTSW	7	78,975,338 (GRCm39)	missense	possibly damaging	0.81
R8309:Abhd2	UTSW	7	78,998,095 (GRCm39)	missense	probably damaging	1.00
R8424:Abhd2	UTSW	7	78,946,885 (GRCm39)	missense	probably damaging	1.00
R8437:Abhd2	UTSW	7	78,998,178 (GRCm39)	missense	probably damaging	1.00
R9523:Abhd2	UTSW	7	78,998,020 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTGATTTACTGTACTGCTTGGTCCCAT -3'
(R):5'- CCACTCAGTTCAAGCTGCCACAT -3'

Sequencing Primer
(F):5'- CATGGCAACTGGTACTCCTG -3'
(R):5'- TTCCAAGAGATGAGAATTTCCCCG -3'

Posted On

2014-04-24