Mutagenetix > Incidental Mutations

Incidental Mutation 'R5157:Lsr'

396778

Institutional Source

Beutler Lab

Gene Symbol

Lsr

Ensembl Gene

ENSMUSG00000001247

Gene Name

lipolysis stimulated lipoprotein receptor

Synonyms

Lisch7, ILDR3

MMRRC Submission

042739-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5157 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

30957770-30973464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30966040 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 163 (Y163C)

Ref Sequence

ENSEMBL: ENSMUSP00000146120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001279] [ENSMUST00000098553] [ENSMUST00000108116] [ENSMUST00000147431] [ENSMUST00000205961]

AlphaFold

Q99KG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000001279
AA Change: Y163C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247
AA Change: Y163C

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	43	186	1.23e-3	SMART
Pfam:LSR	206	253	9.6e-27	PFAM
low complexity region	280	296	N/A	INTRINSIC
low complexity region	445	464	N/A	INTRINSIC
low complexity region	468	487	N/A	INTRINSIC
low complexity region	496	513	N/A	INTRINSIC
low complexity region	544	558	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098553
AA Change: Y163C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247
AA Change: Y163C

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	43	186	1.23e-3	SMART
low complexity region	212	228	N/A	INTRINSIC
low complexity region	377	396	N/A	INTRINSIC
low complexity region	400	419	N/A	INTRINSIC
low complexity region	428	445	N/A	INTRINSIC
low complexity region	476	490	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108116
AA Change: Y163C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247
AA Change: Y163C

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	43	186	1.23e-3	SMART
Pfam:LSR	187	235	2.3e-25	PFAM
low complexity region	261	277	N/A	INTRINSIC
low complexity region	426	445	N/A	INTRINSIC
low complexity region	449	468	N/A	INTRINSIC
low complexity region	477	494	N/A	INTRINSIC
low complexity region	525	539	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147431

SMART Domains

Protein: ENSMUSP00000123487
Gene: ENSMUSG00000001247

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
low complexity region	230	249	N/A	INTRINSIC
low complexity region	253	272	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181395

Predicted Effect

probably damaging
Transcript: ENSMUST00000205961
AA Change: Y163C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.9664

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (57/57)

MGI Phenotype

PHENOTYPE: Homozygous null mice display embryonic lethality during fetal growth and development, liver hypoplasia, and variable penetrance of pallor, hemorrhaging, superficial skin detachment, and reduced size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,686,066	S2T	probably benign	Het
Abca3	C	T	17: 24,408,122	R1266C	probably damaging	Het
Adap2	T	C	11: 80,156,946	F76S	probably damaging	Het
Adgb	T	A	10: 10,398,966	H747L	probably damaging	Het
Aox1	T	A	1: 58,070,063	V670D	probably damaging	Het
Ap4e1	A	G	2: 127,061,695	D839G	probably benign	Het
Arhgef11	T	A	3: 87,728,510		probably null	Het
AY074887	T	C	9: 54,950,818		probably benign	Het
Bicd1	C	G	6: 149,520,414	Q878E	probably benign	Het
Catspere1	A	T	1: 177,879,782		noncoding transcript	Het
Cnmd	T	C	14: 79,656,686	Q87R	probably benign	Het
Col24a1	G	T	3: 145,345,951	G661*	probably null	Het
Crtap	G	A	9: 114,384,792	L232F	probably damaging	Het
Ctsq	T	C	13: 61,037,099	T258A	probably benign	Het
Cyp2d26	T	C	15: 82,790,989	Q388R	probably benign	Het
Ddb1	A	T	19: 10,622,364	T646S	probably benign	Het
Dnah6	G	T	6: 73,195,634	S280R	probably benign	Het
Dzank1	T	C	2: 144,483,412	H545R	probably damaging	Het
Ehhadh	T	A	16: 21,766,511	M207L	probably benign	Het
Elmo2	T	A	2: 165,291,707		probably benign	Het
Golga3	G	A	5: 110,202,671	A731T	probably benign	Het
Igsf21	T	C	4: 140,028,067	T426A	possibly damaging	Het
Kcnf1	T	C	12: 17,174,741	E493G	probably benign	Het
Lmna	A	T	3: 88,484,107	D364E	probably damaging	Het
Map3k20	A	T	2: 72,438,214	T522S	probably benign	Het
Mpp5	T	A	12: 78,820,815	M324K	possibly damaging	Het
Mroh9	C	A	1: 163,044,121	A598S	probably damaging	Het
Msln	T	C	17: 25,752,983	M87V	probably benign	Het
Olfr1155	T	A	2: 87,942,888	M247L	probably benign	Het
Olfr1197	T	A	2: 88,729,548	Q17L	probably benign	Het
Olfr292	A	G	7: 86,695,232	K259E	probably benign	Het
Olfr385	T	C	11: 73,589,723	N5S	probably damaging	Het
Plekhg5	T	A	4: 152,107,865		probably benign	Het
Pprc1	G	T	19: 46,064,758		probably benign	Het
Ptprm	T	A	17: 66,957,097	K385I	probably benign	Het
Rfxap	T	A	3: 54,804,517	N215I	probably damaging	Het
Slc16a7	A	T	10: 125,233,464	Y114*	probably null	Het
Smarcb1	G	T	10: 75,911,794		probably benign	Het
Spef2	T	A	15: 9,668,791	R770*	probably null	Het
Stard9	A	T	2: 120,697,861	Y1533F	probably benign	Het
Tbcd	A	T	11: 121,610,027	Y1142F	probably benign	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Uba7	G	A	9: 107,980,047	V703I	probably benign	Het
Upb1	T	C	10: 75,412,804	S53P	possibly damaging	Het
Zfp672	A	G	11: 58,316,851	S215P	possibly damaging	Het
Zfp978	T	A	4: 147,390,980	L328H	probably damaging	Het

Other mutations in Lsr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Lsr	APN	7	30971996	missense	probably damaging	1.00
IGL01893:Lsr	APN	7	30962232	missense	possibly damaging	0.90
IGL02557:Lsr	APN	7	30958494	missense	possibly damaging	0.90
IGL02800:Lsr	APN	7	30958413	missense	probably damaging	1.00
IGL03030:Lsr	APN	7	30959281	missense	possibly damaging	0.50
IGL03166:Lsr	APN	7	30962097	critical splice donor site	probably null
R0349:Lsr	UTSW	7	30959273	missense	probably damaging	1.00
R0513:Lsr	UTSW	7	30958338	missense	probably benign	0.01
R1226:Lsr	UTSW	7	30971883	missense	probably damaging	1.00
R1539:Lsr	UTSW	7	30972092	missense	possibly damaging	0.78
R2281:Lsr	UTSW	7	30958345	missense	probably damaging	1.00
R4208:Lsr	UTSW	7	30973094	missense	probably benign	0.00
R4422:Lsr	UTSW	7	30965997	missense	probably benign	0.08
R4544:Lsr	UTSW	7	30971976	missense	probably damaging	1.00
R4727:Lsr	UTSW	7	30966040	missense	probably damaging	1.00
R4791:Lsr	UTSW	7	30958552	missense	probably damaging	0.99
R4946:Lsr	UTSW	7	30958209	missense	probably benign	0.17
R5652:Lsr	UTSW	7	30959031	missense	probably damaging	1.00
R6052:Lsr	UTSW	7	30958617	missense	probably damaging	1.00
R6314:Lsr	UTSW	7	30958599	missense	probably damaging	1.00
R6566:Lsr	UTSW	7	30972083	missense	possibly damaging	0.92
R6917:Lsr	UTSW	7	30958296	missense	possibly damaging	0.94
R7842:Lsr	UTSW	7	30966012	missense	possibly damaging	0.82
R7941:Lsr	UTSW	7	30973095	missense	probably benign
R9255:Lsr	UTSW	7	30958245	missense	probably benign	0.01
X0050:Lsr	UTSW	7	30972177	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGGAGAAGCCCAAGTGAC -3'
(R):5'- CTGGATGAATGGTTTCACTTTAGC -3'

Sequencing Primer
(F):5'- AGCCCAAGTGACTGGCAGTG -3'
(R):5'- GTAGGTACTTGTCTGAAATCCCAGC -3'

Posted On

2016-06-21