Mutagenetix > Incidental Mutation

Incidental Mutation 'R4946:Lsr'

383410

Institutional Source

Beutler Lab

Gene Symbol

Lsr

Ensembl Gene

ENSMUSG00000001247

Gene Name

lipolysis stimulated lipoprotein receptor

Synonyms

Lisch7, ILDR3

MMRRC Submission

042543-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30657195-30672889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30657634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 442 (R442L)

Ref Sequence

ENSEMBL: ENSMUSP00000096153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001279] [ENSMUST00000058860] [ENSMUST00000098553] [ENSMUST00000108116] [ENSMUST00000108119] [ENSMUST00000147431] [ENSMUST00000205961] [ENSMUST00000172417] [ENSMUST00000170699] [ENSMUST00000162228]

AlphaFold

Q99KG5

Predicted Effect

probably benign
Transcript: ENSMUST00000001279
AA Change: R510L

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247
AA Change: R510L

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 benign
Transcript: ENSMUST00000058860

SMART Domains

Protein: ENSMUSP00000132256
Gene: ENSMUSG00000058239

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	86	110	N/A	INTRINSIC
HLH	241	296	1.36e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098553
AA Change: R442L

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247
AA Change: R442L

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 benign
Transcript: ENSMUST00000108116
AA Change: R491L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247
AA Change: R491L

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: ENSMUST00000108119

SMART Domains

Protein: ENSMUSP00000132021
Gene: ENSMUSG00000058239

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
HLH	174	229	1.36e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133179

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

probably benign
Transcript: ENSMUST00000205961
AA Change: R510L

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171338

Predicted Effect

probably benign
Transcript: ENSMUST00000172417

SMART Domains

Protein: ENSMUSP00000132833
Gene: ENSMUSG00000058239

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
HLH	110	165	1.36e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170699

Predicted Effect

probably benign
Transcript: ENSMUST00000162228

SMART Domains

Protein: ENSMUSP00000125520
Gene: ENSMUSG00000058239

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	86	110	N/A	INTRINSIC
HLH	214	269	1.36e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170442

SMART Domains

Protein: ENSMUSP00000130298
Gene: ENSMUSG00000058239

Domain	Start	End	E-Value	Type
low complexity region	41	65	N/A	INTRINSIC
HLH	196	243	1.83e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166340

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,977,300 (GRCm39)	D98G	probably damaging	Het
Adgre1	G	A	17: 57,750,918 (GRCm39)	V531I	probably benign	Het
Aldoart2	A	G	12: 55,612,801 (GRCm39)	Q242R	probably benign	Het
Ank2	A	T	3: 126,735,589 (GRCm39)		probably benign	Het
Ank3	C	T	10: 69,733,947 (GRCm39)	A737V	probably damaging	Het
Ankle2	A	G	5: 110,401,704 (GRCm39)	I789V	probably benign	Het
Ankrd13c	T	C	3: 157,711,410 (GRCm39)	V510A	probably damaging	Het
Arid1b	T	A	17: 5,393,118 (GRCm39)	M2216K	probably damaging	Het
Arrdc1	A	G	2: 24,815,860 (GRCm39)	V380A	probably benign	Het
B3galt1	C	A	2: 67,948,913 (GRCm39)	N209K	possibly damaging	Het
Cd300c2	A	T	11: 114,887,731 (GRCm39)	C224S	probably benign	Het
Cdk4	T	C	10: 126,900,759 (GRCm39)		probably null	Het
Cdk5rap1	T	C	2: 154,210,794 (GRCm39)	T115A	possibly damaging	Het
Clvs1	A	T	4: 9,281,831 (GRCm39)	R92*	probably null	Het
Cnga1	A	G	5: 72,762,107 (GRCm39)	V469A	probably damaging	Het
Ctns	A	G	11: 73,087,479 (GRCm39)	F16L	probably benign	Het
Dlg5	A	T	14: 24,204,429 (GRCm39)	C1299S	probably damaging	Het
Dnah3	T	A	7: 119,530,783 (GRCm39)	Y3690F	probably damaging	Het
Dnah5	A	G	15: 28,326,703 (GRCm39)	M1971V	probably damaging	Het
Dnah5	G	A	15: 28,388,050 (GRCm39)	V3170M	probably damaging	Het
Dpp8	T	C	9: 64,963,200 (GRCm39)	Y485H	probably benign	Het
Dsc2	T	C	18: 20,183,214 (GRCm39)	D68G	probably damaging	Het
Eeig2	A	G	3: 108,887,544 (GRCm39)	V240A	probably benign	Het
Elavl1	A	T	8: 4,351,752 (GRCm39)	D121E	probably benign	Het
Ermap	A	G	4: 119,040,505 (GRCm39)	V311A	probably damaging	Het
Fbxw11	C	T	11: 32,689,226 (GRCm39)	R437C	probably damaging	Het
Gas2l3	T	C	10: 89,249,634 (GRCm39)	M495V	probably benign	Het
Hacd1	C	T	2: 14,049,948 (GRCm39)		probably null	Het
Itgav	A	G	2: 83,619,327 (GRCm39)	R596G	probably benign	Het
Kars1	T	C	8: 112,728,352 (GRCm39)	H215R	possibly damaging	Het
Kif26a	G	A	12: 112,144,228 (GRCm39)	R1494H	probably damaging	Het
Klf12	G	A	14: 100,260,393 (GRCm39)	S112L	possibly damaging	Het
Krt77	T	C	15: 101,777,998 (GRCm39)	Y19C	unknown	Het
Lrrc4c	A	G	2: 97,460,834 (GRCm39)	T487A	probably benign	Het
Lrrn1	A	G	6: 107,545,851 (GRCm39)	M550V	probably benign	Het
Lysmd2	A	C	9: 75,542,728 (GRCm39)	T112P	probably damaging	Het
Mctp2	A	T	7: 71,909,017 (GRCm39)	S99T	probably benign	Het
Mettl4	A	G	17: 95,047,960 (GRCm39)	V227A	probably benign	Het
Mill2	T	A	7: 18,590,608 (GRCm39)		probably null	Het
Mpp3	T	C	11: 101,895,848 (GRCm39)	N476D	probably benign	Het
Mtmr6	C	T	14: 60,517,638 (GRCm39)	P83L	possibly damaging	Het
Myh3	T	C	11: 66,984,364 (GRCm39)	I1067T	probably benign	Het
Myh9	C	A	15: 77,657,540 (GRCm39)	Q1068H	probably damaging	Het
Narf	T	A	11: 121,141,179 (GRCm39)	H304Q	possibly damaging	Het
Nfatc2ip	G	T	7: 125,995,784 (GRCm39)	P35Q	possibly damaging	Het
Npas3	C	A	12: 54,112,618 (GRCm39)	P426Q	probably damaging	Het
Or10aa3	T	G	1: 173,878,400 (GRCm39)	S154A	possibly damaging	Het
Or4e1	G	A	14: 52,700,740 (GRCm39)	T242I	probably damaging	Het
Or4f4b	T	C	2: 111,314,311 (GRCm39)	Y207H	possibly damaging	Het
Or51i1	T	A	7: 103,671,219 (GRCm39)	Q102L	probably damaging	Het
Or5p5	A	G	7: 107,414,589 (GRCm39)	H266R	possibly damaging	Het
Pcdh10	A	T	3: 45,333,917 (GRCm39)	E77V	probably damaging	Het
Pcnt	C	T	10: 76,192,019 (GRCm39)	R2764Q	probably damaging	Het
Pgbd5	T	C	8: 125,097,324 (GRCm39)	D493G	possibly damaging	Het
Piezo2	G	T	18: 63,290,333 (GRCm39)	T142N	probably benign	Het
Plcb1	A	G	2: 135,187,015 (GRCm39)	I761V	probably benign	Het
Plekhg4	T	G	8: 106,108,628 (GRCm39)	D1196E	probably null	Het
Pparg	A	G	6: 115,427,989 (GRCm39)	K159E	probably damaging	Het
Psmb1	A	T	17: 15,718,478 (GRCm39)	M16K	probably benign	Het
Ptprq	T	C	10: 107,361,595 (GRCm39)	I2139V	probably benign	Het
Ralgapb	T	A	2: 158,282,887 (GRCm39)	S239T	probably damaging	Het
Serpina11	A	G	12: 103,950,923 (GRCm39)	V266A	probably damaging	Het
Sf3a2	C	G	10: 80,639,947 (GRCm39)		probably benign	Het
Smim18	T	C	8: 34,232,587 (GRCm39)	T11A	possibly damaging	Het
Snx6	G	A	12: 54,817,528 (GRCm39)	T7I	probably damaging	Het
Srcin1	T	A	11: 97,442,768 (GRCm39)	D75V	probably damaging	Het
Srsf12	T	A	4: 33,231,174 (GRCm39)	S223T	probably damaging	Het
Taf4b	G	T	18: 14,946,599 (GRCm39)	C474F	probably damaging	Het
Tango6	T	A	8: 107,444,722 (GRCm39)	C542*	probably null	Het
Tbc1d24	A	G	17: 24,427,510 (GRCm39)	S151P	possibly damaging	Het
Tssk6	T	C	8: 70,355,714 (GRCm39)	S253P	probably benign	Het
Ttc39c	G	A	18: 12,857,999 (GRCm39)	W300*	probably null	Het
Ttc6	T	A	12: 57,689,926 (GRCm39)	W539R	probably benign	Het
Ttn	T	C	2: 76,582,770 (GRCm39)	T22708A	probably damaging	Het
Ttn	C	A	2: 76,749,053 (GRCm39)	E3999*	probably null	Het
Vill	T	G	9: 118,897,508 (GRCm39)	L261R	probably damaging	Het
Vmn1r20	T	C	6: 57,409,159 (GRCm39)	S162P	probably damaging	Het
Zfp516	T	C	18: 82,974,219 (GRCm39)	I139T	probably benign	Het

Other mutations in Lsr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Lsr	APN	7	30,671,421 (GRCm39)	missense	probably damaging	1.00
IGL01893:Lsr	APN	7	30,661,657 (GRCm39)	missense	possibly damaging	0.90
IGL02557:Lsr	APN	7	30,657,919 (GRCm39)	missense	possibly damaging	0.90
IGL02800:Lsr	APN	7	30,657,838 (GRCm39)	missense	probably damaging	1.00
IGL03030:Lsr	APN	7	30,658,706 (GRCm39)	missense	possibly damaging	0.50
IGL03166:Lsr	APN	7	30,661,522 (GRCm39)	critical splice donor site	probably null
R0349:Lsr	UTSW	7	30,658,698 (GRCm39)	missense	probably damaging	1.00
R0513:Lsr	UTSW	7	30,657,763 (GRCm39)	missense	probably benign	0.01
R1226:Lsr	UTSW	7	30,671,308 (GRCm39)	missense	probably damaging	1.00
R1539:Lsr	UTSW	7	30,671,517 (GRCm39)	missense	possibly damaging	0.78
R2281:Lsr	UTSW	7	30,657,770 (GRCm39)	missense	probably damaging	1.00
R4208:Lsr	UTSW	7	30,672,519 (GRCm39)	missense	probably benign	0.00
R4422:Lsr	UTSW	7	30,665,422 (GRCm39)	missense	probably benign	0.08
R4544:Lsr	UTSW	7	30,671,401 (GRCm39)	missense	probably damaging	1.00
R4727:Lsr	UTSW	7	30,665,465 (GRCm39)	missense	probably damaging	1.00
R4791:Lsr	UTSW	7	30,657,977 (GRCm39)	missense	probably damaging	0.99
R5157:Lsr	UTSW	7	30,665,465 (GRCm39)	missense	probably damaging	1.00
R5652:Lsr	UTSW	7	30,658,456 (GRCm39)	missense	probably damaging	1.00
R6052:Lsr	UTSW	7	30,658,042 (GRCm39)	missense	probably damaging	1.00
R6314:Lsr	UTSW	7	30,658,024 (GRCm39)	missense	probably damaging	1.00
R6566:Lsr	UTSW	7	30,671,508 (GRCm39)	missense	possibly damaging	0.92
R6917:Lsr	UTSW	7	30,657,721 (GRCm39)	missense	possibly damaging	0.94
R7842:Lsr	UTSW	7	30,665,437 (GRCm39)	missense	possibly damaging	0.82
R7941:Lsr	UTSW	7	30,672,520 (GRCm39)	missense	probably benign
R9255:Lsr	UTSW	7	30,657,670 (GRCm39)	missense	probably benign	0.01
R9641:Lsr	UTSW	7	30,658,285 (GRCm39)	missense	probably damaging	1.00
R9742:Lsr	UTSW	7	30,657,492 (GRCm39)	small deletion	probably benign
X0050:Lsr	UTSW	7	30,671,602 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGAGTCAGTCTCAGAGTAAGGC -3'
(R):5'- TAGATGACATCAACCGGCCTG -3'

Sequencing Primer
(F):5'- TCTCAGAGTAAGGCGGAGGTG -3'
(R):5'- TCCACTGAATCAGGAAGGTCTTC -3'

Posted On

2016-04-27