Mutagenetix > Incidental Mutations

Incidental Mutation 'R4066:Lipo2'

316138

Institutional Source

Beutler Lab

Gene Symbol

Lipo2

Ensembl Gene

ENSMUSG00000087303

Gene Name

lipase, member O2

Synonyms

Gm8981

MMRRC Submission

040973-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33719670-33769142 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33720859 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 373 (I373V)

Ref Sequence

ENSEMBL: ENSMUSP00000118907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025694] [ENSMUST00000147153]

Predicted Effect

probably benign
Transcript: ENSMUST00000025694

SMART Domains

Protein: ENSMUSP00000025694
Gene: ENSMUSG00000024766

Domain	Start	End	E-Value	Type
Pfam:Abhydro_lipase	33	95	4.2e-24	PFAM
Pfam:Abhydrolase_1	76	213	7.3e-16	PFAM
Pfam:Abhydrolase_5	76	370	4.8e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147153
AA Change: I373V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000118907
Gene: ENSMUSG00000087303
AA Change: I373V

Domain	Start	End	E-Value	Type
Pfam:Abhydro_lipase	33	95	4.4e-24	PFAM
Pfam:Abhydrolase_1	76	213	1.7e-15	PFAM
Pfam:Abhydrolase_5	76	370	1.5e-11	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	T	1: 63,563,425	H582L	probably damaging	Het
Ankrd13d	C	T	19: 4,270,360	A118T	probably benign	Het
Arhgap30	C	T	1: 171,408,323	T755I	probably benign	Het
Cab39l	A	G	14: 59,547,005	H285R	probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,897,089		probably benign	Het
Dspp	T	A	5: 104,177,194	N474K	unknown	Het
Fanci	T	C	7: 79,412,757		probably null	Het
Fras1	T	A	5: 96,770,683	I3526K	possibly damaging	Het
Fut8	T	A	12: 77,464,061	Y421N	probably damaging	Het
Gm12258	C	T	11: 58,858,526	L176F	probably benign	Het
Gm8220	A	T	14: 44,285,638	R12*	probably null	Het
Gm9825	T	A	6: 7,983,009		noncoding transcript	Het
Hecw1	T	C	13: 14,316,431	S659G	probably damaging	Het
Hnrnpr	C	A	4: 136,339,346		probably benign	Het
Htt	C	T	5: 34,878,847	T2046I	probably benign	Het
Kat7	T	C	11: 95,284,141	D259G	possibly damaging	Het
Klra9	T	C	6: 130,188,744	T103A	probably benign	Het
Lad1	A	G	1: 135,827,427	E147G	probably damaging	Het
Ltb4r1	G	T	14: 55,767,495	W85L	probably damaging	Het
Ltn1	T	C	16: 87,416,230	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Muc4	A	T	16: 32,751,051	I310F	possibly damaging	Het
Myl10	A	G	5: 136,695,450	K70E	probably damaging	Het
Nptx2	G	T	5: 144,556,312	W403L	probably damaging	Het
Nyap2	A	G	1: 81,241,835	Y524C	probably damaging	Het
Olfr1245	T	A	2: 89,575,179	L182F	probably damaging	Het
Olfr1415	A	G	1: 92,491,189	C189R	probably damaging	Het
Olfr906	T	A	9: 38,488,482	M151K	probably benign	Het
Pde9a	A	G	17: 31,443,838	*64W	probably null	Het
Ppp2r5b	T	C	19: 6,229,330	Y379C	probably damaging	Het
Rd3l	T	G	12: 111,979,511	N178T	probably benign	Het
Recql4	A	G	15: 76,705,827	Y673H	probably damaging	Het
Shcbp1	A	G	8: 4,748,716	I401T	probably damaging	Het
Shd	A	T	17: 55,971,581	D48V	probably damaging	Het
Slc14a1	A	G	18: 78,111,377	W209R	probably damaging	Het
Slc2a9	T	C	5: 38,483,349	K6E	probably benign	Het
Slco6d1	A	G	1: 98,463,846		probably benign	Het
Spic	T	C	10: 88,675,683	H237R	possibly damaging	Het
Stau2	A	G	1: 16,394,059	S156P	possibly damaging	Het
Stmn2	T	C	3: 8,509,608		probably benign	Het
Togaram2	C	A	17: 71,716,238		probably benign	Het
Trpc5	T	A	X: 144,419,598	R545*	probably null	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Wdfy3	C	T	5: 101,922,447	V1152I	probably benign	Het
Xpo4	G	T	14: 57,588,054	H939N	probably benign	Het

Other mutations in Lipo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01564:Lipo2	APN	19	33721024	missense	probably benign	0.03
IGL01780:Lipo2	APN	19	33730948	missense	possibly damaging	0.82
IGL01868:Lipo2	APN	19	33730838	missense	probably benign	0.00
IGL02291:Lipo2	APN	19	33745792	missense	possibly damaging	0.80
IGL02350:Lipo2	APN	19	33730948	missense	possibly damaging	0.82
IGL02357:Lipo2	APN	19	33730948	missense	possibly damaging	0.82
IGL02560:Lipo2	APN	19	33730948	missense	possibly damaging	0.82
IGL03354:Lipo2	APN	19	33730870	missense	probably benign	0.09
R0183:Lipo2	UTSW	19	33749551	splice site	probably null
R0529:Lipo2	UTSW	19	33746935	missense	probably benign	0.05
R0576:Lipo2	UTSW	19	33749424	missense	probably benign	0.02
R0579:Lipo2	UTSW	19	33746898	missense	probably damaging	0.99
R0594:Lipo2	UTSW	19	33746902	missense	possibly damaging	0.95
R0621:Lipo2	UTSW	19	33730939	missense	probably damaging	1.00
R1019:Lipo2	UTSW	19	33730857	nonsense	probably null
R2190:Lipo2	UTSW	19	33748569	missense	probably damaging	1.00
R2413:Lipo2	UTSW	19	33751257	missense	probably damaging	0.98
R4258:Lipo2	UTSW	19	33730928	missense	possibly damaging	0.88
R4365:Lipo2	UTSW	19	33721708	missense	probably damaging	1.00
R4491:Lipo2	UTSW	19	33721700	missense	probably damaging	0.99
R4640:Lipo2	UTSW	19	33720837	missense	probably benign	0.04
R4822:Lipo2	UTSW	19	33745751	missense	probably benign	0.01
R4872:Lipo2	UTSW	19	33749514	missense	probably benign	0.00
R5004:Lipo2	UTSW	19	33721676	critical splice donor site	probably null
R5112:Lipo2	UTSW	19	33748465	missense	probably benign	0.00
R5440:Lipo2	UTSW	19	33720858	missense	probably benign	0.39
R5737:Lipo2	UTSW	19	33721696	missense	probably damaging	1.00
R6209:Lipo2	UTSW	19	33749452	missense	probably damaging	1.00
R6868:Lipo2	UTSW	19	33748462	missense	possibly damaging	0.86
R6893:Lipo2	UTSW	19	33721007	nonsense	probably null
R7176:Lipo2	UTSW	19	33745807	missense	possibly damaging	0.71
R7853:Lipo2	UTSW	19	33759944	start gained	probably benign
R7936:Lipo2	UTSW	19	33759944	start gained	probably benign
X0052:Lipo2	UTSW	19	33720945	missense	probably damaging	1.00
Z1088:Lipo2	UTSW	19	33721685	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACACATTCCCTTGATGGTCATAG -3'
(R):5'- GACAAGGGCCAAGCTCAATG -3'

Sequencing Primer
(F):5'- CCCTTGATGGTCATAGTTTTCAC -3'
(R):5'- GGGCCAAGCTCAATGATTTC -3'

Posted On

2015-05-15