Mutagenetix > Incidental Mutation

Incidental Mutation 'R4258:Lipo2'

321931

Institutional Source

Beutler Lab

Gene Symbol

Lipo2

Ensembl Gene

ENSMUSG00000087303

Gene Name

lipase, member O2

Synonyms

Gm8981

MMRRC Submission

041071-MU

Accession Numbers

Essential gene?

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

Stock #

R4258 (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 33708328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 229 (F229I)

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

possibly damaging
Transcript: ENSMUST00000147153
AA Change: F229I

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118907
Gene: ENSMUSG00000087303
AA Change: F229I

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (60/63)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415M13Rik	T	A	17: 54,031,441 (GRCm39)		noncoding transcript	Het
Ank3	T	C	10: 69,840,592 (GRCm39)	I984T	probably benign	Het
Arnt2	T	C	7: 83,960,163 (GRCm39)	T204A	probably damaging	Het
Arsi	T	C	18: 61,050,388 (GRCm39)	W424R	probably damaging	Het
Aspg	A	T	12: 112,087,687 (GRCm39)	N346I	probably benign	Het
Brdt	A	G	5: 107,507,775 (GRCm39)	S668G	probably damaging	Het
Ccdc178	C	T	18: 22,150,392 (GRCm39)		probably null	Het
Cfap58	A	T	19: 47,937,923 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,363,474 (GRCm39)	H319Q	unknown	Het
Colec12	T	C	18: 9,720,950 (GRCm39)	S13P	probably damaging	Het
Cpne9	C	T	6: 113,259,984 (GRCm39)		probably benign	Het
Cyp2c65	A	C	19: 39,081,872 (GRCm39)	D466A	probably benign	Het
Cyp3a25	T	C	5: 145,928,248 (GRCm39)	K266E	probably damaging	Het
Dennd1b	G	T	1: 138,990,678 (GRCm39)	R214L	probably damaging	Het
Dock9	T	C	14: 121,818,854 (GRCm39)	I1533V	probably benign	Het
Dynlt1a	C	T	17: 6,361,184 (GRCm39)	M102I	probably benign	Het
Edil3	G	T	13: 89,325,272 (GRCm39)	L220F	probably damaging	Het
Eml5	A	G	12: 98,831,693 (GRCm39)	Y383H	probably benign	Het
Epc1	T	A	18: 6,450,130 (GRCm39)	T393S	probably benign	Het
Fbxo8	A	T	8: 57,041,076 (GRCm39)	D164V	probably benign	Het
Gbp4	T	A	5: 105,284,841 (GRCm39)	N16I	probably damaging	Het
Gdf6	G	A	4: 9,844,877 (GRCm39)	V134I	probably damaging	Het
Gm5475	A	G	15: 100,322,117 (GRCm39)		probably benign	Het
Gm6430	T	G	1: 96,952,561 (GRCm39)		noncoding transcript	Het
Ighv9-4	A	T	12: 114,263,765 (GRCm39)	V56E	probably damaging	Het
Il3ra	A	T	14: 14,347,961 (GRCm38)	N36Y	probably damaging	Het
Kif7	G	T	7: 79,360,261 (GRCm39)	C325*	probably null	Het
Lrba	A	G	3: 86,352,656 (GRCm39)	K1935E	probably damaging	Het
Mki67	A	T	7: 135,297,017 (GRCm39)	D2672E	possibly damaging	Het
Mtf1	A	G	4: 124,732,576 (GRCm39)	T545A	probably benign	Het
Mup6	A	T	4: 60,004,812 (GRCm39)		probably null	Het
Myo9b	T	C	8: 71,808,409 (GRCm39)	V1672A	probably damaging	Het
Nudt16l2	T	C	9: 105,020,767 (GRCm39)	I165V	probably damaging	Het
Or10al6	C	A	17: 38,082,949 (GRCm39)	P135Q	probably damaging	Het
Or10j5	C	T	1: 172,785,205 (GRCm39)	T281I	possibly damaging	Het
Or4k36	A	T	2: 111,145,983 (GRCm39)	H53L	probably benign	Het
Or5d37	T	A	2: 87,923,362 (GRCm39)	N306I	probably damaging	Het
Pcdhgb2	A	T	18: 37,825,102 (GRCm39)	I698F	probably damaging	Het
Pkn3	C	T	2: 29,978,572 (GRCm39)	H665Y	probably damaging	Het
Ppil6	T	A	10: 41,383,531 (GRCm39)	L99*	probably null	Het
Psg22	T	A	7: 18,458,554 (GRCm39)	V376E	probably damaging	Het
Pum1	G	A	4: 130,457,591 (GRCm39)	R201H	probably damaging	Het
Rasa2	A	T	9: 96,439,433 (GRCm39)		probably benign	Het
Schip1	T	A	3: 68,525,963 (GRCm39)	M379K	possibly damaging	Het
Scn9a	A	T	2: 66,395,398 (GRCm39)		probably benign	Het
Sh3tc1	C	T	5: 35,864,322 (GRCm39)	A622T	probably benign	Het
Smarcd2	A	T	11: 106,156,076 (GRCm39)	I292N	probably damaging	Het
Ssxb17	C	T	X: 21,041,167 (GRCm39)	S45N	probably damaging	Het
Stab1	G	A	14: 30,876,629 (GRCm39)	R862C	possibly damaging	Het
Tdrd5	T	A	1: 156,087,312 (GRCm39)	H870L	probably benign	Het
Tnfaip8	A	G	18: 50,223,443 (GRCm39)	R60G	possibly damaging	Het
Traf3ip3	C	T	1: 192,880,254 (GRCm39)	R25Q	probably damaging	Het
Unc5b	T	C	10: 60,601,150 (GRCm39)	Y892C	probably damaging	Het
Vmn2r2	T	G	3: 64,042,118 (GRCm39)	D199A	probably damaging	Het
Washc2	C	A	6: 116,185,202 (GRCm39)	P12Q	probably damaging	Het
Zfp286	T	C	11: 62,671,896 (GRCm39)	I121V	probably benign	Het
Zfp606	T	A	7: 12,228,267 (GRCm39)		probably null	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
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
R4822:Lipo2	UTSW	19	33,723,151 (GRCm39)	missense	probably benign	0.01
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'- TAGCAGATACAGTTGCTCTCTTAG -3'
(R):5'- ACCCCAAAATGTTCATGATTCC -3'

Sequencing Primer
(F):5'- TCTCTTAGCAACACCACACAC -3'
(R):5'- GTTTCTCAAGTTAGGTACTGAATGTC -3'

Posted On

2015-06-20