Mutagenetix > Incidental Mutation

Incidental Mutation 'R9517:Lipc'

718657

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 #

R9517 (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 70709560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 396 (T396A)

Ref Sequence

ENSEMBL: ENSMUSP00000034731 (fasta)

Gene Model

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

AlphaFold

P27656

Predicted Effect

probably benign
Transcript: ENSMUST00000034731
AA Change: T396A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000034731
Gene: ENSMUSG00000032207
AA Change: T396A

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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,113,528 (GRCm39)	V264E	probably damaging	Het
Abca15	A	G	7: 119,987,424 (GRCm39)	I1237V	probably benign	Het
Actn2	G	T	13: 12,295,317 (GRCm39)	Q552K	probably damaging	Het
Adnp	A	T	2: 168,024,866 (GRCm39)	C810S	possibly damaging	Het
Aip	A	T	19: 4,168,217 (GRCm39)	I50K	possibly damaging	Het
Arsk	A	G	13: 76,210,638 (GRCm39)	S470P	probably damaging	Het
Aspm	T	A	1: 139,407,167 (GRCm39)	I2018K	probably damaging	Het
Aspn	G	A	13: 49,705,275 (GRCm39)	D46N		Het
C6	G	T	15: 4,827,914 (GRCm39)	C761F	probably damaging	Het
Cdk12	A	T	11: 98,109,910 (GRCm39)	T644S	unknown	Het
Cela3a	T	A	4: 137,131,825 (GRCm39)	I123F	probably damaging	Het
Chchd3	A	T	6: 33,026,317 (GRCm39)	S42T	probably benign	Het
Chst5	A	G	8: 112,616,652 (GRCm39)	S323P	possibly damaging	Het
Clec4g	C	A	8: 3,767,452 (GRCm39)	A198S	probably damaging	Het
Dcbld2	T	G	16: 58,253,819 (GRCm39)	D185E	probably benign	Het
Dnah17	A	G	11: 117,915,440 (GRCm39)	V4393A	possibly damaging	Het
Dock9	T	C	14: 121,829,236 (GRCm39)	T1392A	probably benign	Het
Ell2	A	G	13: 75,912,106 (GRCm39)	K464R	possibly damaging	Het
Eme2	G	A	17: 25,114,033 (GRCm39)		probably benign	Het
Eps8l1	T	A	7: 4,480,636 (GRCm39)	I530N	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbxw25	A	G	9: 109,480,892 (GRCm39)	Y263H		Het
Frem1	T	C	4: 82,901,714 (GRCm39)	Y938C	probably damaging	Het
Gdf10	A	G	14: 33,654,522 (GRCm39)	D343G	probably benign	Het
Gm3415	C	T	5: 146,493,406 (GRCm39)	R84C	possibly damaging	Het
Hap1	A	T	11: 100,240,188 (GRCm39)	V536D	possibly damaging	Het
Icos	T	C	1: 61,032,894 (GRCm39)	F31S	probably damaging	Het
Inpp5d	T	A	1: 87,638,853 (GRCm39)	S812T	probably benign	Het
Kcng4	A	G	8: 120,353,070 (GRCm39)	V280A	probably benign	Het
Ldlr	T	C	9: 21,655,240 (GRCm39)	V623A	possibly damaging	Het
Lrit2	T	A	14: 36,794,272 (GRCm39)	C445*	probably null	Het
Lrrc37	G	A	11: 103,433,416 (GRCm39)	T3251I	unknown	Het
Mcc	C	A	18: 44,794,794 (GRCm39)	G10C	probably damaging	Het
Mtfr1l	T	C	4: 134,256,515 (GRCm39)	T217A	probably benign	Het
Mtrr	A	T	13: 68,728,730 (GRCm39)	S23R	probably benign	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo7a	A	T	7: 97,721,166 (GRCm39)	D1255E	probably damaging	Het
Nfatc1	T	C	18: 80,725,406 (GRCm39)	K453E	probably damaging	Het
Nrap	A	T	19: 56,360,277 (GRCm39)	M466K	probably benign	Het
Or10j3	C	A	1: 173,031,346 (GRCm39)	A141D	possibly damaging	Het
Or11g26	C	A	14: 50,752,770 (GRCm39)	F36L	probably benign	Het
Or4c106	G	A	2: 88,682,947 (GRCm39)	V218I	probably benign	Het
Or4f54	T	G	2: 111,123,033 (GRCm39)	M140R	possibly damaging	Het
Or8b41	T	A	9: 38,054,623 (GRCm39)	M59K	probably damaging	Het
Osbpl1a	A	G	18: 13,042,965 (GRCm39)	V192A	probably benign	Het
Pgd	T	C	4: 149,249,668 (GRCm39)	T35A	possibly damaging	Het
Plcxd3	G	T	15: 4,405,160 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,424,930 (GRCm39)	D171V	possibly damaging	Het
Prmt7	A	G	8: 106,953,930 (GRCm39)	T124A	probably damaging	Het
Pzp	A	G	6: 128,489,117 (GRCm39)		probably null	Het
Rilpl2	A	G	5: 124,607,788 (GRCm39)	V144A	probably benign	Het
Rin3	T	C	12: 102,334,895 (GRCm39)	S269P	unknown	Het
Setbp1	T	C	18: 78,901,322 (GRCm39)	S782G	probably damaging	Het
Sgce	A	T	6: 4,694,153 (GRCm39)	F268I	probably damaging	Het
Sox6	A	G	7: 115,111,970 (GRCm39)	L552S	possibly damaging	Het
Tent4a	A	G	13: 69,655,059 (GRCm39)	C472R	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r11	A	G	6: 57,114,555 (GRCm39)	D73G	possibly damaging	Het
Vmn1r39	A	C	6: 66,782,258 (GRCm39)	I20R	possibly damaging	Het
Vmn2r82	C	T	10: 79,213,641 (GRCm39)	R76*	probably null	Het
Zhx1	A	T	15: 57,915,812 (GRCm39)	Y811*	probably null	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
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
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'- GCAAGGAGCTGTTACTGTCAC -3'
(R):5'- GAAACCTGCCATACCTATTGC -3'

Sequencing Primer
(F):5'- CAAGGAGCTGTTACTGTCACCTTTG -3'
(R):5'- GCCATACCTATTGCCCATATTG -3'

Posted On

2022-07-18