Mutagenetix > Incidental Mutation

Incidental Mutation 'R9297:Lipc'

704672

Institutional Source

Beutler Lab

Gene Symbol

Lipc

Ensembl Gene

ENSMUSG00000032207

Gene Name

lipase, hepatic

Synonyms

HL, Hpl

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R9297 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70705410-70859503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70727736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 122 (D122V)

Ref Sequence

ENSEMBL: ENSMUSP00000034731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034731] [ENSMUST00000214995] [ENSMUST00000216798]

AlphaFold

P27656

Predicted Effect

probably damaging
Transcript: ENSMUST00000034731
AA Change: D122V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034731
Gene: ENSMUSG00000032207
AA Change: D122V

Domain	Start	End	E-Value	Type
Pfam:Lipase	14	350	1.1e-136	PFAM
LH2	353	488	4.62e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000214995

Predicted Effect

probably damaging
Transcript: ENSMUST00000216798
AA Change: D37V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit elevated plasma total cholesterol, phospholipids, and high density lipoprotein cholesterol. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,599,534 (GRCm39)	Q22R	probably benign	Het
Adamts20	A	G	15: 94,301,321 (GRCm39)	S68P	possibly damaging	Het
Adcy6	A	T	15: 98,491,466 (GRCm39)	N1044K	possibly damaging	Het
Ak9	T	G	10: 41,299,081 (GRCm39)	M1594R	unknown	Het
Alkbh3	A	G	2: 93,835,082 (GRCm39)	S88P	probably damaging	Het
Angpt1	A	G	15: 42,301,751 (GRCm39)	I419T	probably benign	Het
Ankrd31	A	T	13: 97,015,085 (GRCm39)	L1451F	probably benign	Het
Ap1b1	T	C	11: 4,990,157 (GRCm39)	I860T	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Astn2	T	C	4: 65,460,960 (GRCm39)	D1058G	possibly damaging	Het
Atg3	A	G	16: 44,987,371 (GRCm39)	H48R	possibly damaging	Het
Bnc2	A	C	4: 84,474,136 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,496,887 (GRCm39)	Y453H	probably benign	Het
Catsperg1	T	C	7: 28,891,085 (GRCm39)	T653A	probably benign	Het
Ccdc102a	A	G	8: 95,638,120 (GRCm39)	S249P	possibly damaging	Het
Ccdc125	A	G	13: 100,832,920 (GRCm39)	Y499C	probably damaging	Het
Ccdc141	A	G	2: 76,842,028 (GRCm39)	F1468L	probably benign	Het
Ccdc162	C	A	10: 41,506,110 (GRCm39)	M893I	probably benign	Het
Ccdc33	C	A	9: 57,993,876 (GRCm39)	W335L	possibly damaging	Het
Chn2	T	A	6: 54,272,840 (GRCm39)	Y355N	probably damaging	Het
Clec4g	A	G	8: 3,766,500 (GRCm39)	M267T	probably damaging	Het
Cpa6	A	T	1: 10,554,273 (GRCm39)	D111E	possibly damaging	Het
Crlf3	A	G	11: 79,950,031 (GRCm39)	C200R	probably damaging	Het
Cyp4a10	T	C	4: 115,378,375 (GRCm39)	S164P	probably damaging	Het
Def6	A	G	17: 28,436,714 (GRCm39)	N126S	probably damaging	Het
Diaph1	G	A	18: 38,022,828 (GRCm39)	T782I	probably benign	Het
Dnah5	A	C	15: 28,204,054 (GRCm39)		probably benign	Het
Eme1	A	T	11: 94,541,614 (GRCm39)	S69R	probably benign	Het
Fat3	A	T	9: 15,908,996 (GRCm39)	D2335E	probably damaging	Het
Fstl4	A	G	11: 53,024,973 (GRCm39)	K282E	possibly damaging	Het
Galnt7	T	C	8: 57,995,555 (GRCm39)	E380G	probably damaging	Het
Gm973	A	T	1: 59,583,829 (GRCm39)	Y204F	probably damaging	Het
Hace1	T	A	10: 45,528,769 (GRCm39)	S337T	probably benign	Het
Ipo8	C	A	6: 148,703,076 (GRCm39)	C416F	possibly damaging	Het
Kcnt2	T	C	1: 140,352,933 (GRCm39)	I214T	probably damaging	Het
Kdelr3	C	A	15: 79,411,275 (GRCm39)	L203I	probably benign	Het
Kif26b	C	T	1: 178,543,374 (GRCm39)	Q336*	probably null	Het
Krt36	A	G	11: 99,994,271 (GRCm39)	Y269H	probably damaging	Het
Lamc1	G	T	1: 153,127,746 (GRCm39)	R386S	probably damaging	Het
Lrba	A	G	3: 86,280,873 (GRCm39)	T1841A	probably damaging	Het
Lrit1	T	A	14: 36,783,993 (GRCm39)	D440E	probably damaging	Het
Map4	T	C	9: 109,882,480 (GRCm39)	I448T	probably benign	Het
Megf8	G	T	7: 25,030,511 (GRCm39)	C488F	probably damaging	Het
Mllt6	A	G	11: 97,563,314 (GRCm39)	E299G	probably damaging	Het
Mpst	G	T	15: 78,294,642 (GRCm39)	V125L	probably damaging	Het
Msx1	G	A	5: 37,981,756 (GRCm39)		probably benign	Het
Muc2	A	G	7: 141,302,759 (GRCm39)	E473G		Het
Myo15a	A	G	11: 60,385,899 (GRCm39)	R602G	probably null	Het
Myod1	A	T	7: 46,026,356 (GRCm39)	H87L	probably damaging	Het
Nid1	T	C	13: 13,650,897 (GRCm39)	V478A	possibly damaging	Het
Obscn	A	T	11: 58,898,359 (GRCm39)	I6634N	unknown	Het
Or52ab7	T	A	7: 102,978,583 (GRCm39)	Y297N	probably damaging	Het
Or52e7	T	C	7: 104,684,830 (GRCm39)	Y142H	probably damaging	Het
Or8k22	A	G	2: 86,163,188 (GRCm39)	Y171H	probably benign	Het
Pdgfrl	C	T	8: 41,391,268 (GRCm39)	S66F	probably damaging	Het
Phf20	G	A	2: 156,115,690 (GRCm39)	R337H	probably benign	Het
Pkhd1	T	A	1: 20,293,118 (GRCm39)	Y2834F	probably benign	Het
Plekhg4	A	C	8: 106,105,907 (GRCm39)	E768A	probably damaging	Het
Prss37	A	T	6: 40,491,909 (GRCm39)	Y224N	probably damaging	Het
Ptprs	A	T	17: 56,765,257 (GRCm39)	V9E	probably damaging	Het
Ptprt	A	G	2: 161,417,698 (GRCm39)	L926S	probably benign	Het
Rgl1	G	A	1: 152,400,454 (GRCm39)	T649I	possibly damaging	Het
Serpinf1	A	G	11: 75,307,251 (GRCm39)	S29P	probably damaging	Het
Skint6	A	T	4: 112,668,717 (GRCm39)	D1119E	probably benign	Het
Snw1	T	C	12: 87,505,674 (GRCm39)	K255E	probably damaging	Het
Sox6	T	C	7: 115,261,557 (GRCm39)	I220V	probably benign	Het
Stimate	T	A	14: 30,588,639 (GRCm39)	V122E	probably damaging	Het
Tas2r114	A	G	6: 131,666,287 (GRCm39)	I247T	probably damaging	Het
Tmem145	C	T	7: 25,008,257 (GRCm39)	T280M	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zfp219	T	C	14: 52,246,494 (GRCm39)	H211R	probably damaging	Het
Zfp42	T	C	8: 43,748,772 (GRCm39)	N243S	possibly damaging	Het
Zkscan4	T	A	13: 21,668,201 (GRCm39)	S246R	probably benign	Het

Other mutations in Lipc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Lipc	APN	9	70,727,719 (GRCm39)	missense	possibly damaging	0.56
IGL02431:Lipc	APN	9	70,841,750 (GRCm39)	intron	probably benign
Immunobolic	UTSW	9	70,730,668 (GRCm39)	missense	probably damaging	1.00
R0112:Lipc	UTSW	9	70,727,709 (GRCm39)	missense	probably damaging	1.00
R0114:Lipc	UTSW	9	70,711,063 (GRCm39)	missense	probably damaging	0.99
R0545:Lipc	UTSW	9	70,719,987 (GRCm39)	missense	probably damaging	1.00
R1051:Lipc	UTSW	9	70,709,398 (GRCm39)	missense	probably benign	0.00
R1069:Lipc	UTSW	9	70,730,819 (GRCm39)	missense	probably benign	0.03
R1350:Lipc	UTSW	9	70,705,649 (GRCm39)	missense	probably benign	0.00
R1742:Lipc	UTSW	9	70,727,811 (GRCm39)	missense	probably damaging	1.00
R2145:Lipc	UTSW	9	70,841,817 (GRCm39)	missense	possibly damaging	0.94
R3880:Lipc	UTSW	9	70,727,800 (GRCm39)	missense	probably damaging	0.99
R4360:Lipc	UTSW	9	70,759,864 (GRCm39)	intron	probably benign
R4999:Lipc	UTSW	9	70,724,013 (GRCm39)	missense	probably benign	0.00
R5159:Lipc	UTSW	9	70,720,192 (GRCm39)	missense	probably benign	0.03
R5197:Lipc	UTSW	9	70,705,673 (GRCm39)	missense	probably benign	0.11
R5458:Lipc	UTSW	9	70,759,864 (GRCm39)	intron	probably benign
R5710:Lipc	UTSW	9	70,719,979 (GRCm39)	missense	probably benign	0.30
R6645:Lipc	UTSW	9	70,711,030 (GRCm39)	missense	probably damaging	1.00
R6749:Lipc	UTSW	9	70,730,668 (GRCm39)	missense	probably damaging	1.00
R6849:Lipc	UTSW	9	70,726,129 (GRCm39)	critical splice donor site	probably null
R7011:Lipc	UTSW	9	70,726,236 (GRCm39)	missense	probably benign	0.09
R7346:Lipc	UTSW	9	70,720,029 (GRCm39)	missense	probably damaging	1.00
R7426:Lipc	UTSW	9	70,709,450 (GRCm39)	missense	probably benign	0.21
R7587:Lipc	UTSW	9	70,726,206 (GRCm39)	missense	probably damaging	1.00
R7830:Lipc	UTSW	9	70,720,183 (GRCm39)	missense	probably damaging	1.00
R8269:Lipc	UTSW	9	70,727,655 (GRCm39)	missense	probably damaging	1.00
R9087:Lipc	UTSW	9	70,709,390 (GRCm39)	missense	probably benign	0.06
R9431:Lipc	UTSW	9	70,723,889 (GRCm39)	missense	probably damaging	1.00
R9517:Lipc	UTSW	9	70,709,560 (GRCm39)	missense	probably benign	0.00
R9528:Lipc	UTSW	9	70,841,841 (GRCm39)	start codon destroyed	probably null	0.98
R9547:Lipc	UTSW	9	70,728,146 (GRCm39)	missense	unknown
X0054:Lipc	UTSW	9	70,720,030 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTGTGCAAACAGGAGTGTC -3'
(R):5'- TCTTAGGGACCCCAGGAACTAG -3'

Sequencing Primer
(F):5'- TGCAAACAGGAGTGTCAGCTAG -3'
(R):5'- GACCCCAGGAACTAGACAGG -3'

Posted On

2022-03-25