Mutagenetix > Incidental Mutation

Incidental Mutation 'R4763:Abhd2'

357024

Institutional Source

Beutler Lab

Gene Symbol

Abhd2

Ensembl Gene

ENSMUSG00000039202

Gene Name

abhydrolase domain containing 2

Synonyms

2210009N18Rik, LABH2

MMRRC Submission

042404-MU

Accession Numbers

Essential gene?

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

Stock #

R4763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78923002-79015257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79009879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 418 (E418G)

Ref Sequence

ENSEMBL: ENSMUSP00000038361 (fasta)

Gene Model

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

AlphaFold

Q9QXM0

Predicted Effect

probably benign
Transcript: ENSMUST00000037315
AA Change: E418G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038361
Gene: ENSMUSG00000039202
AA Change: E418G

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

Meta Mutation Damage Score

0.0959

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

97% (73/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	A	G	9: 98,069,176 (GRCm39)		noncoding transcript	Het
Acox2	G	T	14: 8,241,334 (GRCm38)	H593N	possibly damaging	Het
Adam17	A	G	12: 21,384,016 (GRCm39)	Y495H	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arhgap44	A	G	11: 64,929,991 (GRCm39)	I240T	probably damaging	Het
Atp2c1	T	C	9: 105,295,766 (GRCm39)	T653A	probably damaging	Het
Atxn7l1	G	A	12: 33,408,877 (GRCm39)		probably benign	Het
Cacng8	T	C	7: 3,463,508 (GRCm39)	V220A	probably damaging	Het
Card14	A	T	11: 119,234,001 (GRCm39)	S864C	probably damaging	Het
Cfap58	C	T	19: 47,971,945 (GRCm39)	A625V	probably damaging	Het
Cfap61	T	C	2: 145,859,287 (GRCm39)	V425A	probably benign	Het
Cfap73	A	G	5: 120,768,294 (GRCm39)	F155L	probably damaging	Het
Cntrl	G	T	2: 35,065,563 (GRCm39)	R2235L	probably damaging	Het
Cxxc1	A	G	18: 74,352,484 (GRCm39)	K355E	probably damaging	Het
Disc1	G	A	8: 125,851,277 (GRCm39)	G387D	probably damaging	Het
Dpf2	T	C	19: 5,952,480 (GRCm39)	Y286C	probably damaging	Het
E2f7	A	T	10: 110,616,710 (GRCm39)	K650M	probably damaging	Het
Fbln2	C	T	6: 91,246,982 (GRCm39)	S1027F	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gm6811	A	G	17: 21,314,109 (GRCm39)		noncoding transcript	Het
Gtf2i	T	C	5: 134,284,818 (GRCm39)	K409E	probably damaging	Het
Hamp	T	A	7: 30,641,989 (GRCm39)	R55S	probably damaging	Het
Heatr1	C	T	13: 12,445,811 (GRCm39)	T1596I	possibly damaging	Het
Hells	T	C	19: 38,945,643 (GRCm39)	V601A	probably damaging	Het
Ighv5-8	A	G	12: 113,617,161 (GRCm39)	S34P	probably damaging	Het
Lig4	T	C	8: 10,022,955 (GRCm39)	D275G	probably damaging	Het
Meak7	A	G	8: 120,495,122 (GRCm39)	V212A	probably benign	Het
Med6	T	C	12: 81,629,435 (GRCm39)	D59G	probably damaging	Het
Men1	T	C	19: 6,385,102 (GRCm39)		probably null	Het
Mlec	G	A	5: 115,295,972 (GRCm39)	A41V	unknown	Het
Ncoa1	G	A	12: 4,325,297 (GRCm39)	T927I	probably damaging	Het
Neb	T	A	2: 52,216,732 (GRCm39)	K148*	probably null	Het
Neb	T	A	2: 52,127,052 (GRCm39)	K378*	probably null	Het
Or4b13	T	A	2: 90,082,807 (GRCm39)	Y175F	probably damaging	Het
Or4k41	T	A	2: 111,280,023 (GRCm39)	C179*	probably null	Het
Or5p73	G	A	7: 108,065,393 (GRCm39)	M287I	probably benign	Het
Or8g26	A	G	9: 39,096,256 (GRCm39)	T261A	probably benign	Het
Parp10	C	T	15: 76,117,627 (GRCm39)	V920M	probably damaging	Het
Parp6	C	A	9: 59,538,648 (GRCm39)	P241H	probably damaging	Het
Pcyox1l	A	G	18: 61,830,850 (GRCm39)	Y341H	probably benign	Het
Pfas	A	T	11: 68,881,020 (GRCm39)	D1080E	possibly damaging	Het
Pi4kb	G	T	3: 94,911,720 (GRCm39)		probably benign	Het
Piwil2	C	T	14: 70,614,227 (GRCm39)	V846M	probably damaging	Het
Pkd1l2	A	G	8: 117,746,168 (GRCm39)	F1941L	probably damaging	Het
Pot1b	G	A	17: 56,002,160 (GRCm39)	T138M	possibly damaging	Het
Ppp4r1	T	C	17: 66,142,105 (GRCm39)	I720T	possibly damaging	Het
Prr12	A	G	7: 44,697,119 (GRCm39)	L932S	unknown	Het
Rnaseh2a	T	A	8: 85,692,021 (GRCm39)	E84V	probably benign	Het
Rpl18a	G	A	8: 71,348,330 (GRCm39)	R118C	probably benign	Het
Rprm	C	A	2: 53,975,228 (GRCm39)	C30F	possibly damaging	Het
Sbf2	G	T	7: 110,020,124 (GRCm39)	L579I	probably damaging	Het
Sfn	C	A	4: 133,328,656 (GRCm39)	R142L	probably benign	Het
St8sia6	T	C	2: 13,677,341 (GRCm39)	K159E	probably damaging	Het
Sugct	A	T	13: 17,837,372 (GRCm39)	F86L	probably damaging	Het
Tmcc3	T	C	10: 94,415,173 (GRCm39)	S292P	probably damaging	Het
Tmem33	A	T	5: 67,443,479 (GRCm39)	I219F	probably benign	Het
Trav8-1	C	A	14: 53,707,492 (GRCm39)	T44K	possibly damaging	Het
U2surp	A	G	9: 95,393,844 (GRCm39)		probably benign	Het
Use1	T	C	8: 71,819,952 (GRCm39)	L25P	probably damaging	Het
Vmn1r221	G	T	13: 23,401,958 (GRCm39)		noncoding transcript	Het
Vmn1r50	C	T	6: 90,085,062 (GRCm39)	T269I	probably benign	Het
Washc3	A	G	10: 88,055,185 (GRCm39)	D125G	probably damaging	Het
Zfp142	G	A	1: 74,615,671 (GRCm39)	H278Y	probably damaging	Het
Zfp418	A	G	7: 7,184,444 (GRCm39)	N136D	possibly damaging	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
R1587:Abhd2	UTSW	7	79,003,758 (GRCm39)	missense	probably benign	0.01
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
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'- ACGGGAGAATGTCATGTTCG -3'
(R):5'- ACCATGGCTAACGATGCAATGG -3'

Sequencing Primer
(F):5'- AGAATGTCATGTTCGTGCTGCC -3'
(R):5'- TGCAATGGAGAAAACCCGTAAC -3'

Posted On

2015-11-11