Mutagenetix > Incidental Mutation

Incidental Mutation 'R4422:Lsr'

327147

Institutional Source

Beutler Lab

Gene Symbol

Lsr

Ensembl Gene

ENSMUSG00000001247

Gene Name

lipolysis stimulated lipoprotein receptor

Synonyms

Lisch7, ILDR3

MMRRC Submission

041695-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30657195-30672889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30665422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 177 (N177K)

Ref Sequence

ENSEMBL: ENSMUSP00000146120 (fasta)

Gene Model

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

AlphaFold

Q99KG5

Predicted Effect

probably benign
Transcript: ENSMUST00000001279
AA Change: N177K

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247
AA Change: N177K

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: ENSMUST00000098553
AA Change: N177K

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247
AA Change: N177K

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: N177K

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247
AA Change: N177K

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 benign
Transcript: ENSMUST00000205961
AA Change: N177K

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (67/70)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,895,412 (GRCm39)	S1168P	probably benign	Het
Adgrf2	T	C	17: 43,024,046 (GRCm39)	M142V	probably benign	Het
Akna	G	T	4: 63,305,330 (GRCm39)	Q479K	possibly damaging	Het
Arhgef9	T	G	X: 94,144,670 (GRCm39)	I131L	possibly damaging	Het
AW551984	A	T	9: 39,511,373 (GRCm39)	C111S	probably null	Het
Bak1	C	A	17: 27,240,298 (GRCm39)	G130W	probably damaging	Het
Bank1	T	A	3: 135,788,972 (GRCm39)	Q441L	probably damaging	Het
C030034I22Rik	T	C	17: 69,725,153 (GRCm39)		noncoding transcript	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cct7	A	G	6: 85,444,127 (GRCm39)	R355G	probably damaging	Het
Cd19	C	T	7: 126,012,578 (GRCm39)	V272I	probably benign	Het
Cenpf	A	G	1: 189,390,547 (GRCm39)	L1095S	probably damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Chrm3	A	T	13: 9,928,591 (GRCm39)	Y148*	probably null	Het
Chrnb3	T	C	8: 27,886,761 (GRCm39)	V445A	possibly damaging	Het
Col4a4	T	A	1: 82,467,559 (GRCm39)	M852L	unknown	Het
Dhx29	T	C	13: 113,083,781 (GRCm39)	L612P	probably damaging	Het
Dlgap2	T	C	8: 14,793,463 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,972,799 (GRCm39)	T2045A	possibly damaging	Het
Dync1li1	A	G	9: 114,538,377 (GRCm39)	T245A	probably damaging	Het
Epha4	T	C	1: 77,488,354 (GRCm39)	E42G	probably damaging	Het
Fam120b	C	A	17: 15,622,445 (GRCm39)	T141K	probably damaging	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Gcnt2	T	G	13: 41,014,001 (GRCm39)	Y57*	probably null	Het
Gm5409	C	T	6: 41,396,519 (GRCm39)		noncoding transcript	Het
Hip1r	A	G	5: 124,135,069 (GRCm39)	K402E	possibly damaging	Het
Hlcs	G	A	16: 93,939,819 (GRCm39)	P506L	possibly damaging	Het
Itih4	T	A	14: 30,611,821 (GRCm39)	F142I	probably damaging	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lamb2	A	G	9: 108,360,754 (GRCm39)	D518G	probably damaging	Het
Ldlr	G	A	9: 21,649,248 (GRCm39)	C341Y	probably damaging	Het
Macf1	G	A	4: 123,359,839 (GRCm39)	S1815F	probably damaging	Het
Mms22l	T	C	4: 24,503,008 (GRCm39)	S95P	probably damaging	Het
Mon2	A	G	10: 122,878,887 (GRCm39)	L218P	probably damaging	Het
Nlrp4f	C	T	13: 65,332,776 (GRCm39)		probably null	Het
Nrde2	G	A	12: 100,112,286 (GRCm39)	Q137*	probably null	Het
Or12e10	C	A	2: 87,640,989 (GRCm39)	T275K	probably damaging	Het
Or51l14	G	T	7: 103,101,450 (GRCm39)	R302L	probably damaging	Het
Or6z7	G	T	7: 6,484,037 (GRCm39)	Y39*	probably null	Het
Phf24	G	A	4: 42,934,817 (GRCm39)	C151Y	probably damaging	Het
Pik3r1	T	G	13: 101,830,892 (GRCm39)	N3T	probably benign	Het
Plcb2	T	C	2: 118,542,484 (GRCm39)	K821E	probably benign	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Prelid2	T	C	18: 42,045,461 (GRCm39)	T150A	probably benign	Het
Psg21	A	G	7: 18,381,257 (GRCm39)	S429P	probably damaging	Het
Reg4	T	C	3: 98,140,360 (GRCm39)	Y114H	possibly damaging	Het
Rsbn1l	G	T	5: 21,101,544 (GRCm39)	H665Q	probably damaging	Het
Rspo2	T	C	15: 43,033,150 (GRCm39)	N24S	probably benign	Het
Ryr2	G	T	13: 11,731,952 (GRCm39)	C2329*	probably null	Het
Skint2	T	A	4: 112,441,785 (GRCm39)		probably benign	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tmem53	T	C	4: 117,123,149 (GRCm39)	Y37H	probably damaging	Het
Tmem59l	G	A	8: 70,938,749 (GRCm39)	R111W	probably damaging	Het
Tnks2	G	A	19: 36,823,053 (GRCm39)	V107I	probably damaging	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Tubgcp4	T	A	2: 121,019,882 (GRCm39)	L404*	probably null	Het
Vmn2r86	T	C	10: 130,288,845 (GRCm39)	I219V	possibly damaging	Het
Vsig10	T	C	5: 117,462,986 (GRCm39)	S71P	probably benign	Het
Wnk1	T	C	6: 119,930,856 (GRCm39)	N896S	probably benign	Het
Zfp871	T	A	17: 32,993,808 (GRCm39)	S437C	probably benign	Het
Zfp871	C	A	17: 32,993,807 (GRCm39)	S456I	probably benign	Het
Zfp873	A	G	10: 81,896,708 (GRCm39)	T480A	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
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
R4946:Lsr	UTSW	7	30,657,634 (GRCm39)	missense	probably benign	0.17
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'- CCTGAGATTTAGGAACGGTCC -3'
(R):5'- TCCCTCCTTAAGATGTAGGGG -3'

Sequencing Primer
(F):5'- AACGGTCCTATCTGGGGTGC -3'
(R):5'- GGCTCAGCCCCTGATGATCTTAAG -3'

Posted On

2015-07-07