Mutagenetix > Incidental Mutation

Incidental Mutation 'R7830:Lipc'

602381

Institutional Source

Beutler Lab

Gene Symbol

Lipc

Ensembl Gene

ENSMUSG00000032207

Gene Name

lipase, hepatic

Synonyms

HL, Hpl

MMRRC Submission

045884-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7830 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70705410-70859503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70720183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 190 (T190A)

Ref Sequence

ENSEMBL: ENSMUSP00000149185 (fasta)

Gene Model

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

AlphaFold

P27656

Predicted Effect

probably damaging
Transcript: ENSMUST00000034731
AA Change: T275A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034731
Gene: ENSMUSG00000032207
AA Change: T275A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216798
AA Change: T190A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	T	C	10: 80,442,654 (GRCm39)	L164P	probably damaging	Het
Aldh16a1	A	T	7: 44,795,649 (GRCm39)	L388Q	probably damaging	Het
Angpt1	T	C	15: 42,539,664 (GRCm39)	N65S	probably damaging	Het
Ankrd54	G	A	15: 78,938,250 (GRCm39)	T287I	probably damaging	Het
Bltp1	CCAGATTCATGTAGCA	CCA	3: 37,019,081 (GRCm39)		probably null	Het
Cc2d2b	T	A	19: 40,753,801 (GRCm39)	V108E	possibly damaging	Het
Cd200l1	A	T	16: 45,262,917 (GRCm39)	I187N	probably damaging	Het
Cntnap5c	A	T	17: 58,469,245 (GRCm39)	D609V	probably damaging	Het
Col6a4	G	T	9: 105,952,589 (GRCm39)	D436E	probably damaging	Het
Cul9	A	T	17: 46,851,237 (GRCm39)	D394E	probably benign	Het
Cyfip1	A	G	7: 55,523,210 (GRCm39)	E75G	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Eif2ak2	C	T	17: 79,173,832 (GRCm39)	G249S	probably damaging	Het
Erich4	A	T	7: 25,315,149 (GRCm39)	M42K	probably benign	Het
Fig4	A	C	10: 41,132,462 (GRCm39)	V448G	probably benign	Het
Gas1	T	C	13: 60,323,848 (GRCm39)	D303G	probably damaging	Het
Golgb1	T	G	16: 36,719,083 (GRCm39)	Y330D	possibly damaging	Het
Gpr146	C	T	5: 139,378,357 (GRCm39)	A53V	probably benign	Het
Klk1b27	A	C	7: 43,705,150 (GRCm39)	M106L	probably benign	Het
Lrrc4b	A	G	7: 44,111,231 (GRCm39)	I368V	possibly damaging	Het
Mmp10	A	T	9: 7,507,284 (GRCm39)	Q368L	probably benign	Het
Myo10	T	A	15: 25,738,057 (GRCm39)	Y501*	probably null	Het
Neb	T	A	2: 52,055,201 (GRCm39)	H6445L	probably benign	Het
Numa1	T	A	7: 101,648,492 (GRCm39)	M741K	probably benign	Het
Nxn	T	A	11: 76,164,819 (GRCm39)	I231F	probably damaging	Het
Or1j13	A	G	2: 36,369,392 (GRCm39)	L250P	probably damaging	Het
Or5b116	T	C	19: 13,422,985 (GRCm39)	L203S	probably benign	Het
Osbp2	A	G	11: 3,813,414 (GRCm39)	S152P	probably benign	Het
P3h4	T	C	11: 100,304,869 (GRCm39)	T173A	probably damaging	Het
Pcdh15	C	A	10: 74,221,733 (GRCm39)	R678S	probably damaging	Het
Pcdhb6	C	A	18: 37,469,365 (GRCm39)	T762K	probably benign	Het
Pnrc1	G	A	4: 33,248,057 (GRCm39)	P114L	probably damaging	Het
Ppp3ca	T	A	3: 136,574,481 (GRCm39)	S126R	probably damaging	Het
Prl3d2	C	T	13: 27,310,000 (GRCm39)	T155I	probably benign	Het
Prune2	C	A	19: 17,100,038 (GRCm39)	N1847K	probably benign	Het
Psg21	A	T	7: 18,381,223 (GRCm39)	V440E	probably damaging	Het
Rag1	A	G	2: 101,472,404 (GRCm39)	S913P	probably damaging	Het
Rmc1	A	G	18: 12,301,928 (GRCm39)	N24S	probably benign	Het
Ros1	T	A	10: 52,031,030 (GRCm39)	H525L	probably damaging	Het
Scarb1	T	C	5: 125,364,447 (GRCm39)	Y94C	probably damaging	Het
Serpinb6a	T	G	13: 34,114,030 (GRCm39)	D120A	probably benign	Het
Sik3	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	9: 46,123,355 (GRCm39)		probably benign	Het
Slc39a14	T	C	14: 70,547,566 (GRCm39)	D299G	probably benign	Het
Sox1	G	A	8: 12,446,955 (GRCm39)	A199T	probably damaging	Het
Strc	T	A	2: 121,205,530 (GRCm39)	I867F	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Usf3	C	T	16: 44,040,142 (GRCm39)	Q1541*	probably null	Het
Wrn	G	A	8: 33,759,082 (GRCm39)	L716F	probably damaging	Het
Zfp141	G	A	7: 42,124,612 (GRCm39)	T620I	probably benign	Het
Zfp354b	A	T	11: 50,814,136 (GRCm39)	I263K	probably benign	Het
Zfp804b	T	A	5: 6,821,124 (GRCm39)	E646D	probably benign	Het
Zfp970	G	T	2: 177,167,338 (GRCm39)	C304F	probably damaging	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
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
R9297:Lipc	UTSW	9	70,727,736 (GRCm39)	missense	probably damaging	0.99
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'- CTTGCGGATGTCATAACCCAGAG -3'
(R):5'- TGGGAGAACTCAGCAATCCTG -3'

Sequencing Primer
(F):5'- GATGTCATAACCCAGAGTGTTGC -3'
(R):5'- CCTAGGGCTGAAACCATGAGTTG -3'

Posted On

2019-12-03