Mutagenetix > Incidental Mutation

Incidental Mutation 'R4822:Lipo2'

371261

Institutional Source

Beutler Lab

Gene Symbol

Lipo2

Ensembl Gene

ENSMUSG00000087303

Gene Name

lipase, member O2

Synonyms

Gm8981

MMRRC Submission

042438-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33697070-33728759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33723151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 213 (S213T)

Ref Sequence

ENSEMBL: ENSMUSP00000118907 (fasta)

Gene Model

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

AlphaFold

D3YY49

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: S213T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000118907
Gene: ENSMUSG00000087303
AA Change: S213T

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (101/103)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	C	T	14: 70,393,907 (GRCm39)	V243I	probably benign	Het
Acadvl	C	T	11: 69,902,010 (GRCm39)	G485S	probably benign	Het
Acap3	T	A	4: 155,986,908 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,023,356 (GRCm39)	I250M	probably damaging	Het
Amacr	T	A	15: 10,983,496 (GRCm39)	I102N	probably damaging	Het
Apob	A	G	12: 8,065,741 (GRCm39)	T4237A	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bicd1	A	T	6: 149,420,752 (GRCm39)		probably benign	Het
Caskin2	T	A	11: 115,698,125 (GRCm39)	E49V	probably damaging	Het
Cemip	T	A	7: 83,622,449 (GRCm39)	I577F	probably benign	Het
Chrnb1	T	C	11: 69,686,501 (GRCm39)	S40G	possibly damaging	Het
Ctif	C	T	18: 75,654,632 (GRCm39)	C298Y	probably benign	Het
Cul9	A	C	17: 46,840,977 (GRCm39)	H764Q	probably benign	Het
Cwf19l2	T	A	9: 3,458,839 (GRCm39)	C763S	probably damaging	Het
Dhx57	A	T	17: 80,549,596 (GRCm39)		probably null	Het
Dnaaf10	T	A	11: 17,177,165 (GRCm39)	N174K	probably damaging	Het
Dnhd1	G	A	7: 105,353,171 (GRCm39)	D2775N	probably benign	Het
Enpp1	A	T	10: 24,537,833 (GRCm39)	M384K	possibly damaging	Het
Fat2	T	C	11: 55,202,144 (GRCm39)	N310S	probably benign	Het
Fbxw7	A	T	3: 84,874,814 (GRCm39)	Y232F	possibly damaging	Het
Fcamr	T	A	1: 130,740,423 (GRCm39)	S281T	possibly damaging	Het
Gm10762	C	T	2: 128,809,106 (GRCm39)	W81*	probably null	Het
Gm5592	A	G	7: 40,805,314 (GRCm39)		probably benign	Het
Gm5745	T	C	9: 73,082,980 (GRCm39)		noncoding transcript	Het
Gm6185	G	C	1: 161,040,824 (GRCm39)		noncoding transcript	Het
Hid1	T	A	11: 115,246,125 (GRCm39)	N382Y	probably damaging	Het
Hoxa10	A	T	6: 52,209,569 (GRCm39)	F68I	probably damaging	Het
Ift88	T	A	14: 57,679,326 (GRCm39)		probably null	Het
Ighg2b	A	T	12: 113,270,011 (GRCm39)	*336R	probably null	Het
Ighv7-2	A	C	12: 113,875,892 (GRCm39)	L37R	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnn3	G	C	3: 89,574,596 (GRCm39)	V703L	possibly damaging	Het
Kiz	C	A	2: 146,732,989 (GRCm39)	S388R	probably damaging	Het
Klhl20	G	A	1: 160,921,333 (GRCm39)	Q41*	probably null	Het
Krt31	T	C	11: 99,938,610 (GRCm39)	I328V	possibly damaging	Het
Lama4	A	T	10: 38,909,049 (GRCm39)	I330L	probably benign	Het
Lrsam1	A	T	2: 32,816,804 (GRCm39)	I723N	probably damaging	Het
Man2b2	G	A	5: 36,972,865 (GRCm39)	R550W	probably damaging	Het
Map4k5	A	T	12: 69,888,758 (GRCm39)	L224*	probably null	Het
Mast3	A	G	8: 71,233,010 (GRCm39)	S1101P	probably damaging	Het
Mertk	A	G	2: 128,643,225 (GRCm39)	S875G	probably benign	Het
Mmel1	A	G	4: 154,972,354 (GRCm39)	M302V	probably benign	Het
Mrgpra3	T	A	7: 47,239,716 (GRCm39)	H70L	possibly damaging	Het
Myh3	T	A	11: 66,979,836 (GRCm39)	S592T	probably benign	Het
Nbeal2	T	C	9: 110,465,383 (GRCm39)	I451V	possibly damaging	Het
Nup155	T	A	15: 8,158,010 (GRCm39)	V489D	possibly damaging	Het
Obscn	T	A	11: 58,913,159 (GRCm39)	T6300S	probably benign	Het
Oprm1	A	G	10: 6,779,036 (GRCm39)	I146V	probably damaging	Het
Or1ad1	T	A	11: 50,875,910 (GRCm39)	C127*	probably null	Het
Or1j4	A	G	2: 36,740,888 (GRCm39)	M277V	probably benign	Het
Or4k44	G	T	2: 111,367,797 (GRCm39)	T279K	probably damaging	Het
Or5ae1	A	C	7: 84,565,634 (GRCm39)	I216L	possibly damaging	Het
Otub1	A	T	19: 7,181,794 (GRCm39)	D27E	probably damaging	Het
Pik3ca	T	C	3: 32,492,131 (GRCm39)	V243A	probably benign	Het
Pla2g12b	G	A	10: 59,252,336 (GRCm39)		probably null	Het
Plekha8	A	G	6: 54,601,546 (GRCm39)	D321G	probably damaging	Het
Pprc1	T	C	19: 46,059,795 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,468,576 (GRCm39)	D129G	possibly damaging	Het
Rbms3	C	T	9: 116,773,441 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,821,161 (GRCm39)	V1495D	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,507 (GRCm39)		noncoding transcript	Het
Ryr3	A	T	2: 112,483,090 (GRCm39)	I4219N	probably damaging	Het
Sbf2	G	A	7: 109,977,146 (GRCm39)		probably benign	Het
Scn10a	C	T	9: 119,467,738 (GRCm39)	A801T	probably damaging	Het
Scn9a	T	A	2: 66,314,093 (GRCm39)	Y1866F	possibly damaging	Het
Sec1	A	C	7: 45,328,727 (GRCm39)	Y107D	probably damaging	Het
Sema6d	C	T	2: 124,504,214 (GRCm39)	T619M	possibly damaging	Het
Sh2b3	C	A	5: 121,966,618 (GRCm39)		probably benign	Het
Slc2a4	A	G	11: 69,837,413 (GRCm39)	V44A	probably damaging	Het
Slc5a12	T	C	2: 110,452,085 (GRCm39)	I326T	possibly damaging	Het
Smarca5	T	C	8: 81,435,309 (GRCm39)		probably null	Het
Smarcd2	A	G	11: 106,157,357 (GRCm39)		probably null	Het
Snrpa1	A	T	7: 65,719,321 (GRCm39)		probably benign	Het
Sptbn5	T	G	2: 119,898,449 (GRCm39)	K470Q	probably benign	Het
Stard9	T	G	2: 120,526,422 (GRCm39)	V893G	possibly damaging	Het
Stx8	T	G	11: 67,864,099 (GRCm39)	V53G	possibly damaging	Het
Sv2c	A	T	13: 96,122,457 (GRCm39)	W440R	probably damaging	Het
Tcstv2a	A	T	13: 120,725,686 (GRCm39)	T117S	probably damaging	Het
Tmem181a	A	T	17: 6,330,940 (GRCm39)	I67F	probably benign	Het
Tmprss7	C	T	16: 45,483,679 (GRCm39)	C565Y	probably damaging	Het
Trafd1	A	T	5: 121,516,561 (GRCm39)	L109H	probably damaging	Het
Trpv4	A	G	5: 114,768,083 (GRCm39)	I422T	possibly damaging	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Vmn1r236	A	T	17: 21,507,202 (GRCm39)	N107Y	probably damaging	Het
Vmn2r13	A	T	5: 109,321,938 (GRCm39)	I253K	probably damaging	Het
Vmn2r2	T	A	3: 64,041,960 (GRCm39)	I252F	probably damaging	Het
Vsig8	A	G	1: 172,387,205 (GRCm39)	D27G	probably damaging	Het
Wiz	A	T	17: 32,575,411 (GRCm39)	Y908*	probably null	Het
Wnk1	A	T	6: 119,939,399 (GRCm39)	S1113T	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp691	G	T	4: 119,027,764 (GRCm39)	T156K	probably damaging	Het
Zfp791	A	T	8: 85,837,035 (GRCm39)	D276E	probably benign	Het

Other mutations in Lipo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01564:Lipo2	APN	19	33,698,424 (GRCm39)	missense	probably benign	0.03
IGL01780:Lipo2	APN	19	33,708,348 (GRCm39)	missense	possibly damaging	0.82
IGL01868:Lipo2	APN	19	33,708,238 (GRCm39)	missense	probably benign	0.00
IGL02291:Lipo2	APN	19	33,723,192 (GRCm39)	missense	possibly damaging	0.80
IGL02350:Lipo2	APN	19	33,708,348 (GRCm39)	missense	possibly damaging	0.82
IGL02357:Lipo2	APN	19	33,708,348 (GRCm39)	missense	possibly damaging	0.82
IGL02560:Lipo2	APN	19	33,708,348 (GRCm39)	missense	possibly damaging	0.82
IGL03354:Lipo2	APN	19	33,708,270 (GRCm39)	missense	probably benign	0.09
R0183:Lipo2	UTSW	19	33,726,951 (GRCm39)	splice site	probably null
R0529:Lipo2	UTSW	19	33,724,335 (GRCm39)	missense	probably benign	0.05
R0576:Lipo2	UTSW	19	33,726,824 (GRCm39)	missense	probably benign	0.02
R0579:Lipo2	UTSW	19	33,724,298 (GRCm39)	missense	probably damaging	0.99
R0594:Lipo2	UTSW	19	33,724,302 (GRCm39)	missense	possibly damaging	0.95
R0621:Lipo2	UTSW	19	33,708,339 (GRCm39)	missense	probably damaging	1.00
R1019:Lipo2	UTSW	19	33,708,257 (GRCm39)	nonsense	probably null
R2190:Lipo2	UTSW	19	33,725,969 (GRCm39)	missense	probably damaging	1.00
R2413:Lipo2	UTSW	19	33,728,657 (GRCm39)	missense	probably damaging	0.98
R4066:Lipo2	UTSW	19	33,698,259 (GRCm39)	missense	probably benign	0.01
R4258:Lipo2	UTSW	19	33,708,328 (GRCm39)	missense	possibly damaging	0.88
R4365:Lipo2	UTSW	19	33,699,108 (GRCm39)	missense	probably damaging	1.00
R4491:Lipo2	UTSW	19	33,699,100 (GRCm39)	missense	probably damaging	0.99
R4640:Lipo2	UTSW	19	33,698,237 (GRCm39)	missense	probably benign	0.04
R4872:Lipo2	UTSW	19	33,726,914 (GRCm39)	missense	probably benign	0.00
R5004:Lipo2	UTSW	19	33,699,076 (GRCm39)	critical splice donor site	probably null
R5112:Lipo2	UTSW	19	33,725,865 (GRCm39)	missense	probably benign	0.00
R5440:Lipo2	UTSW	19	33,698,258 (GRCm39)	missense	probably benign	0.39
R5737:Lipo2	UTSW	19	33,699,096 (GRCm39)	missense	probably damaging	1.00
R6209:Lipo2	UTSW	19	33,726,852 (GRCm39)	missense	probably damaging	1.00
R6868:Lipo2	UTSW	19	33,725,862 (GRCm39)	missense	possibly damaging	0.86
R6893:Lipo2	UTSW	19	33,698,407 (GRCm39)	nonsense	probably null
R7176:Lipo2	UTSW	19	33,723,207 (GRCm39)	missense	possibly damaging	0.71
R7853:Lipo2	UTSW	19	33,737,344 (GRCm39)	start gained	probably benign
R8092:Lipo2	UTSW	19	33,726,880 (GRCm39)	missense	probably benign	0.00
R8101:Lipo2	UTSW	19	33,698,394 (GRCm39)	missense	possibly damaging	0.79
R8464:Lipo2	UTSW	19	33,726,023 (GRCm39)	missense	probably benign	0.02
R8958:Lipo2	UTSW	19	33,698,361 (GRCm39)	nonsense	probably null
R8968:Lipo2	UTSW	19	33,726,917 (GRCm39)	missense	probably damaging	1.00
R9752:Lipo2	UTSW	19	33,723,221 (GRCm39)	missense	possibly damaging	0.78
X0052:Lipo2	UTSW	19	33,698,345 (GRCm39)	missense	probably damaging	1.00
Z1088:Lipo2	UTSW	19	33,699,085 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTTGATAAAGTGCACAGGACC -3'
(R):5'- TGTCTGACAAAGAAGAGACAATCTC -3'

Sequencing Primer
(F):5'- TGCACAGGACCAAGTGC -3'
(R):5'- GGGGCATTTGCAACAAATC -3'

Posted On

2016-03-01