Mutagenetix > Incidental Mutation

Incidental Mutation 'R7832:Liph'

605737

Institutional Source

Beutler Lab

Gene Symbol

Liph

Ensembl Gene

ENSMUSG00000044626

Gene Name

lipase, member H

Synonyms

C130037N08Rik, Lpdlr, PLA1B, mPA-PLA1, LPDLR, D16Wsu119e

MMRRC Submission

045886-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21772567-21814408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21780986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 335 (I335V)

Ref Sequence

ENSEMBL: ENSMUSP00000062310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060673] [ENSMUST00000074230] [ENSMUST00000231682] [ENSMUST00000231766]

AlphaFold

Q8CIV3

Predicted Effect

probably benign
Transcript: ENSMUST00000060673
AA Change: I335V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000062310
Gene: ENSMUSG00000044626
AA Change: I335V

Domain	Start	End	E-Value	Type
Pfam:Lipase	11	326	6.8e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074230
AA Change: I305V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000073853
Gene: ENSMUSG00000044626
AA Change: I305V

Domain	Start	End	E-Value	Type
Pfam:Lipase	15	214	1.5e-45	PFAM
Pfam:Abhydrolase_6	73	296	2.3e-6	PFAM
Pfam:Lipase	209	296	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231682

Predicted Effect

probably benign
Transcript: ENSMUST00000231766
AA Change: I333V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (78/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit wavy vibrissae and wavy and matted coats associated with impaired inner rooth sheath formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	G	A	5: 135,038,654 (GRCm39)	C30Y	probably benign	Het
Akr1c20	C	T	13: 4,562,671 (GRCm39)	V95M	probably damaging	Het
Ano7	A	G	1: 93,322,195 (GRCm39)	D401G	probably benign	Het
Arhgef10l	G	A	4: 140,305,616 (GRCm39)	T176I	possibly damaging	Het
Armc2	A	C	10: 41,842,792 (GRCm39)	V337G	probably damaging	Het
Atp6v0d2	T	A	4: 19,922,400 (GRCm39)	Y33F	probably benign	Het
Banp	A	G	8: 122,747,291 (GRCm39)	S447G	probably benign	Het
Car8	T	A	4: 8,238,860 (GRCm39)	Y32F	possibly damaging	Het
Ccdc188	C	T	16: 18,036,539 (GRCm39)	P124S	probably damaging	Het
Cdc23	A	T	18: 34,780,072 (GRCm39)	D85E	probably benign	Het
Cnot6l	T	C	5: 96,242,084 (GRCm39)	E213G	possibly damaging	Het
Cntnap4	A	G	8: 113,484,113 (GRCm39)	T389A	probably benign	Het
Cramp1	A	T	17: 25,202,196 (GRCm39)	C429S	probably damaging	Het
Crygn	T	C	5: 24,961,072 (GRCm39)	H78R	probably benign	Het
D630003M21Rik	T	A	2: 158,059,588 (GRCm39)	D104V	probably damaging	Het
Dcaf10	T	G	4: 45,348,196 (GRCm39)	H217Q	probably damaging	Het
Dmrtb1	C	T	4: 107,541,179 (GRCm39)	V61M	probably benign	Het
Dnai1	A	G	4: 41,605,823 (GRCm39)	E271G	probably benign	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Emsy	G	A	7: 98,289,060 (GRCm39)	T79M	probably damaging	Het
Ergic1	A	G	17: 26,853,449 (GRCm39)	D145G	probably damaging	Het
Fah	A	G	7: 84,244,686 (GRCm39)	V229A	probably damaging	Het
Fam76a	G	A	4: 132,629,342 (GRCm39)	T270I	probably damaging	Het
Fat4	A	T	3: 39,055,353 (GRCm39)	M4191L	probably benign	Het
Fbxl22	G	T	9: 66,418,999 (GRCm39)	R213S	probably benign	Het
Fktn	T	C	4: 53,734,859 (GRCm39)	F127L	probably benign	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gabbr2	A	T	4: 46,734,096 (GRCm39)	S541T	probably benign	Het
Gm7489	A	G	15: 53,749,402 (GRCm39)	H158R	unknown	Het
Greb1l	G	C	18: 10,542,056 (GRCm39)	E1268Q	probably benign	Het
H2-D1	A	G	17: 35,482,848 (GRCm39)	D126G	probably damaging	Het
Ikzf3	T	A	11: 98,409,525 (GRCm39)	T13S	probably benign	Het
Il23r	T	C	6: 67,400,846 (GRCm39)	T495A	probably benign	Het
Insyn2b	A	G	11: 34,353,034 (GRCm39)	T359A	probably benign	Het
Irf5	A	G	6: 29,535,461 (GRCm39)	T230A	probably benign	Het
Itga2b	A	T	11: 102,348,108 (GRCm39)	I831N	probably damaging	Het
Itgb4	A	G	11: 115,891,087 (GRCm39)	D1168G	probably damaging	Het
Kcnma1	G	T	14: 23,440,991 (GRCm39)	P605Q	probably benign	Het
Larp7	A	T	3: 127,337,916 (GRCm39)	M381K	possibly damaging	Het
Lfng	G	A	5: 140,598,588 (GRCm39)	G269D	probably benign	Het
Map2k2	A	T	10: 80,954,040 (GRCm39)	I169F	possibly damaging	Het
Mmrn1	T	A	6: 60,964,044 (GRCm39)		probably null	Het
Nod2	A	G	8: 89,387,425 (GRCm39)		probably null	Het
Or51ag1	A	C	7: 103,155,586 (GRCm39)	L189R	probably damaging	Het
Or5b101	T	A	19: 13,005,360 (GRCm39)	Y111F	probably benign	Het
Or9s23	T	C	1: 92,501,219 (GRCm39)	F109L	probably benign	Het
Pcdh20	G	T	14: 88,707,143 (GRCm39)	F52L	probably null	Het
Pkhd1	A	T	1: 20,573,223 (GRCm39)	N1894K	probably damaging	Het
Pla2r1	T	A	2: 60,334,536 (GRCm39)	D412V	possibly damaging	Het
Pole	T	G	5: 110,465,663 (GRCm39)	M1197R	probably benign	Het
Pom121l2	C	T	13: 22,168,048 (GRCm39)	T773I	possibly damaging	Het
Ppp2r5d	A	T	17: 46,995,472 (GRCm39)	M497K	probably benign	Het
Rbm45	G	T	2: 76,206,797 (GRCm39)	V270F	possibly damaging	Het
Ros1	A	T	10: 52,020,957 (GRCm39)	F673I	probably damaging	Het
Rtn4	T	A	11: 29,691,048 (GRCm39)	L1113*	probably null	Het
Scn4a	A	G	11: 106,212,841 (GRCm39)	I1388T	probably benign	Het
Sema3c	G	A	5: 17,899,845 (GRCm39)	V446I	probably damaging	Het
Six4	T	C	12: 73,159,408 (GRCm39)	Y176C	probably damaging	Het
Slc35a5	T	A	16: 44,964,570 (GRCm39)	K221M	possibly damaging	Het
Slc6a19	A	G	13: 73,841,182 (GRCm39)	I76T	probably damaging	Het
Slfn4	A	G	11: 83,077,419 (GRCm39)	D69G	probably damaging	Het
Smc6	T	C	12: 11,367,844 (GRCm39)	F1085L	probably benign	Het
Spatc1l	A	G	10: 76,398,224 (GRCm39)	S9G	probably benign	Het
Stx8	T	A	11: 68,000,106 (GRCm39)	I182N	probably damaging	Het
Sult2a8	A	T	7: 14,147,596 (GRCm39)	C232S	probably benign	Het
Susd4	G	A	1: 182,686,070 (GRCm39)	A207T	probably benign	Het
Svep1	G	A	4: 58,054,539 (GRCm39)	P3350S	probably benign	Het
Tbx20	A	T	9: 24,685,108 (GRCm39)	S12T	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Umodl1	A	T	17: 31,192,666 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,659,538 (GRCm39)	F251L	possibly damaging	Het
Vmn1r230	A	G	17: 21,066,933 (GRCm39)	T41A	probably benign	Het
Vmn2r20	A	G	6: 123,362,882 (GRCm39)	L634P	probably damaging	Het
Vmn2r81	A	T	10: 79,129,664 (GRCm39)	R852W	probably damaging	Het
Wdr41	A	T	13: 95,151,701 (GRCm39)	N287I	probably benign	Het
Zfp202	A	G	9: 40,121,758 (GRCm39)	D285G	possibly damaging	Het

Other mutations in Liph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Liph	APN	16	21,786,890 (GRCm39)	missense	probably damaging	1.00
babyback	UTSW	16	21,802,707 (GRCm39)	missense	probably damaging	0.97
PIT4131001:Liph	UTSW	16	21,814,119 (GRCm39)	start codon destroyed	probably null	0.59
R0004:Liph	UTSW	16	21,802,944 (GRCm39)	nonsense	probably null
R0045:Liph	UTSW	16	21,786,803 (GRCm39)	missense	probably damaging	1.00
R0045:Liph	UTSW	16	21,786,803 (GRCm39)	missense	probably damaging	1.00
R0348:Liph	UTSW	16	21,786,730 (GRCm39)	splice site	probably null
R0689:Liph	UTSW	16	21,786,818 (GRCm39)	missense	probably damaging	1.00
R0715:Liph	UTSW	16	21,814,100 (GRCm39)	missense	probably benign	0.05
R1104:Liph	UTSW	16	21,802,898 (GRCm39)	missense	possibly damaging	0.82
R1779:Liph	UTSW	16	21,786,800 (GRCm39)	missense	probably benign	0.01
R2323:Liph	UTSW	16	21,802,754 (GRCm39)	missense	probably damaging	0.99
R3913:Liph	UTSW	16	21,781,009 (GRCm39)	splice site	probably benign
R4402:Liph	UTSW	16	21,795,000 (GRCm39)	missense	probably damaging	1.00
R4454:Liph	UTSW	16	21,803,018 (GRCm39)	missense	probably benign	0.11
R4672:Liph	UTSW	16	21,802,806 (GRCm39)	missense	probably benign	0.14
R4681:Liph	UTSW	16	21,802,777 (GRCm39)	missense	probably benign	0.02
R5111:Liph	UTSW	16	21,802,820 (GRCm39)	missense	probably damaging	1.00
R5135:Liph	UTSW	16	21,774,915 (GRCm39)	nonsense	probably null
R5235:Liph	UTSW	16	21,802,785 (GRCm39)	missense	probably damaging	1.00
R5642:Liph	UTSW	16	21,784,745 (GRCm39)	missense	possibly damaging	0.61
R5810:Liph	UTSW	16	21,786,860 (GRCm39)	missense	probably damaging	1.00
R6188:Liph	UTSW	16	21,803,018 (GRCm39)	missense	probably benign	0.11
R6557:Liph	UTSW	16	21,802,670 (GRCm39)	missense	possibly damaging	0.60
R6734:Liph	UTSW	16	21,802,707 (GRCm39)	missense	probably damaging	0.97
R7011:Liph	UTSW	16	21,802,847 (GRCm39)	missense	probably damaging	0.98
R7038:Liph	UTSW	16	21,795,009 (GRCm39)	missense	probably damaging	1.00
R7178:Liph	UTSW	16	21,795,078 (GRCm39)	missense	probably damaging	1.00
R7185:Liph	UTSW	16	21,814,089 (GRCm39)	missense	probably benign	0.00
R7198:Liph	UTSW	16	21,784,772 (GRCm39)	missense	probably damaging	1.00
R7775:Liph	UTSW	16	21,777,664 (GRCm39)	missense	probably damaging	1.00
R7993:Liph	UTSW	16	21,777,562 (GRCm39)	missense	probably benign	0.03
R8264:Liph	UTSW	16	21,802,721 (GRCm39)	missense	possibly damaging	0.94
R8551:Liph	UTSW	16	21,800,158 (GRCm39)	missense	probably damaging	1.00
R9311:Liph	UTSW	16	21,802,680 (GRCm39)	missense	probably benign	0.01
R9311:Liph	UTSW	16	21,774,913 (GRCm39)	missense	probably damaging	1.00
R9794:Liph	UTSW	16	21,774,862 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGAGCCCTGGTACCAATTCC -3'
(R):5'- ACTGGTCATTCTTGCCTACATAGTG -3'

Sequencing Primer
(F):5'- CCAATTCCTGGTATCAGTTGCTAAGG -3'
(R):5'- CCTACATAGTGAGTTTGAAGGACCTG -3'

Posted On

2019-12-20