Mutagenetix > Incidental Mutation

Incidental Mutation 'R8958:Lipo2'

682194

Institutional Source

Beutler Lab

Gene Symbol

Lipo2

Ensembl Gene

ENSMUSG00000087303

Gene Name

lipase, member O2

Synonyms

Gm8981

MMRRC Submission

068794-MU

Accession Numbers

Essential gene?

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

Stock #

R8958 (G1)

Quality Score

196.009

Status

Not validated

Chromosome

Chromosomal Location

33697070-33728759 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 33698361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 339 (K339*)

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 null
Transcript: ENSMUST00000147153
AA Change: K339*

SMART Domains

Protein: ENSMUSP00000118907
Gene: ENSMUSG00000087303
AA Change: K339*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	T	12: 21,399,934 (GRCm39)	N157K	possibly damaging	Het
Adck2	T	C	6: 39,560,848 (GRCm39)	V412A	probably benign	Het
Adgrb3	C	T	1: 25,865,190 (GRCm39)	V11I	possibly damaging	Het
Arhgef17	T	C	7: 100,579,019 (GRCm39)	D643G	probably damaging	Het
Arvcf	A	G	16: 18,221,376 (GRCm39)	Q597R	probably damaging	Het
Brdt	T	C	5: 107,525,877 (GRCm39)	V910A	probably benign	Het
Cachd1	A	G	4: 100,851,283 (GRCm39)	D1167G	probably benign	Het
Ccdc187	A	C	2: 26,165,577 (GRCm39)	S860A	probably benign	Het
Ccdc28a	T	C	10: 18,089,926 (GRCm39)	I113M	probably benign	Het
Cdc5l	T	C	17: 45,704,127 (GRCm39)	N699S	probably benign	Het
Cenpf	A	T	1: 189,385,350 (GRCm39)	I2310K	possibly damaging	Het
Ch25h	A	T	19: 34,452,414 (GRCm39)	I38N	probably benign	Het
Chrdl2	C	A	7: 99,670,129 (GRCm39)	P84Q	probably damaging	Het
Cltc	A	T	11: 86,586,403 (GRCm39)	Y1673N	possibly damaging	Het
Cr1l	C	G	1: 194,812,243 (GRCm39)	G27R	probably damaging	Het
Crebbp	G	A	16: 4,031,172 (GRCm39)		probably benign	Het
Dync1h1	G	A	12: 110,586,805 (GRCm39)	E929K	probably benign	Het
E2f7	C	A	10: 110,601,615 (GRCm39)	P324Q	probably damaging	Het
Eif3b	A	G	5: 140,411,194 (GRCm39)	D215G	probably benign	Het
Ephb1	A	G	9: 102,072,614 (GRCm39)	I55T	probably damaging	Het
Fbxw14	A	T	9: 109,107,810 (GRCm39)	L188Q	probably damaging	Het
Foxg1	T	C	12: 49,431,944 (GRCm39)	S226P	probably damaging	Het
Gbe1	T	C	16: 70,275,210 (GRCm39)	F337L	probably damaging	Het
Glg1	A	T	8: 111,899,116 (GRCm39)	C716*	probably null	Het
Gp1ba	C	G	11: 70,531,730 (GRCm39)		probably benign	Het
Grm7	C	T	6: 111,472,783 (GRCm39)	S36L	probably damaging	Het
H2-M5	T	A	17: 37,299,520 (GRCm39)	I167F	probably damaging	Het
H3c6	T	C	13: 23,746,421 (GRCm39)	H40R	possibly damaging	Het
Hycc1	A	G	5: 24,169,934 (GRCm39)	C472R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ino80	C	T	2: 119,213,862 (GRCm39)	R1236H	probably damaging	Het
Ism1	T	A	2: 139,573,995 (GRCm39)	I115N	possibly damaging	Het
Kdm4a	A	G	4: 117,999,573 (GRCm39)	S950P	probably benign	Het
Lama5	T	C	2: 179,835,592 (GRCm39)	T1254A	probably benign	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Mkrn2os	G	C	6: 115,562,317 (GRCm39)	S215R	probably benign	Het
Myzap	G	T	9: 71,457,485 (GRCm39)	D303E	possibly damaging	Het
Naa11	T	C	5: 97,540,084 (GRCm39)	N25D	probably damaging	Het
Naip5	T	A	13: 100,354,117 (GRCm39)	K1149*	probably null	Het
Obscn	C	T	11: 58,964,158 (GRCm39)	V3083M	probably damaging	Het
Or10d1	T	C	9: 39,484,091 (GRCm39)	T155A	probably benign	Het
Or4k48	T	C	2: 111,476,070 (GRCm39)	T91A	possibly damaging	Het
Parn	T	A	16: 13,466,322 (GRCm39)	E241D	possibly damaging	Het
Pax1	T	A	2: 147,210,517 (GRCm39)		probably null	Het
Pclo	A	T	5: 14,725,369 (GRCm39)	E1409V	unknown	Het
Pclo	A	G	5: 14,763,056 (GRCm39)	Y3843C	unknown	Het
Ppp2r3d	A	T	9: 101,088,634 (GRCm39)	M563K	probably benign	Het
Prdm1	T	G	10: 44,316,729 (GRCm39)	K623Q	probably damaging	Het
Ptpn13	T	C	5: 103,698,973 (GRCm39)	V1152A	probably benign	Het
Ptx3	G	A	3: 66,128,391 (GRCm39)	A151T	probably benign	Het
Rab11fip1	T	C	8: 27,644,940 (GRCm39)	S282G	possibly damaging	Het
Ros1	G	T	10: 51,972,190 (GRCm39)	N1641K	probably damaging	Het
Syne1	T	C	10: 5,181,768 (GRCm39)	K4189R	probably benign	Het
Tcf3	T	C	10: 80,246,091 (GRCm39)	K611E	probably damaging	Het
Tmem215	A	G	4: 40,474,376 (GRCm39)	Q151R	probably benign	Het
Trappc8	T	C	18: 21,003,667 (GRCm39)	I254V	probably benign	Het
Trim46	T	C	3: 89,143,760 (GRCm39)	D556G	probably damaging	Het
Wdr97	A	T	15: 76,245,694 (GRCm39)	E1310D		Het
Zfp513	C	A	5: 31,356,825 (GRCm39)	R487L	probably damaging	Het
Zmpste24	C	A	4: 120,944,508 (GRCm39)	E97*	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
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
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
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'- TGGCCAAGCAAGAAAACATTTGC -3'
(R):5'- GCCAAGCTCAATGATTTCTATGG -3'

Sequencing Primer
(F):5'- TGCACTTATAAGAACAAGAGACTTTC -3'
(R):5'- TTGTTAACGCGTTGCTC -3'

Posted On

2021-08-31