Mutagenetix > Incidental Mutation

Incidental Mutation 'R0536:Vldlr'

49475

Institutional Source

Beutler Lab

Gene Symbol

Vldlr

Ensembl Gene

ENSMUSG00000024924

Gene Name

very low density lipoprotein receptor

Synonyms

MMRRC Submission

038728-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

R0536 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27193884-27231631 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27217364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 436 (A436T)

Ref Sequence

ENSEMBL: ENSMUSP00000126730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025866] [ENSMUST00000047645] [ENSMUST00000165761] [ENSMUST00000167487] [ENSMUST00000172302]

AlphaFold

P98156

Predicted Effect

probably damaging
Transcript: ENSMUST00000025866
AA Change: A436T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025866
Gene: ENSMUSG00000024924
AA Change: A436T

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF_like	32	68	7.38e1	SMART
LDLa	32	69	1.69e-16	SMART
LDLa	71	110	5.81e-15	SMART
LDLa	112	151	1.96e-12	SMART
LDLa	153	190	7.15e-15	SMART
LDLa	192	231	1.23e-13	SMART
LDLa	238	275	1.1e-15	SMART
LDLa	277	314	1.13e-12	SMART
LDLa	317	357	3.86e-11	SMART
EGF_CA	356	395	1e-5	SMART
EGF_CA	396	435	6.1e-10	SMART
Blast:LY	461	495	4e-15	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000047645
AA Change: A395T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: A395T

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF_like	32	68	7.38e1	SMART
LDLa	32	69	1.69e-16	SMART
LDLa	71	110	1.25e-14	SMART
LDLa	112	149	7.15e-15	SMART
LDLa	151	190	1.23e-13	SMART
LDLa	197	234	1.1e-15	SMART
LDLa	236	273	1.13e-12	SMART
LDLa	276	316	3.86e-11	SMART
EGF_CA	315	354	1e-5	SMART
EGF_CA	355	394	6.1e-10	SMART
LY	420	462	2.16e-1	SMART
LY	464	506	9.54e-12	SMART
LY	507	550	2.22e-12	SMART
LY	551	593	1.66e-11	SMART
LY	594	637	5.97e-4	SMART
EGF	664	709	2.16e-1	SMART
transmembrane domain	728	750	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164509

Predicted Effect

probably benign
Transcript: ENSMUST00000165761

SMART Domains

Protein: ENSMUSP00000130382
Gene: ENSMUSG00000024924

Domain	Start	End	E-Value	Type
LDLa	1	26	1.58e0	SMART
EGF	28	64	4e-5	SMART
LY	88	130	2.16e-1	SMART
LY	132	174	9.54e-12	SMART
LY	175	218	2.22e-12	SMART
LY	219	258	3.25e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167487
AA Change: A436T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: A436T

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF_like	32	68	7.38e1	SMART
LDLa	32	69	1.69e-16	SMART
LDLa	71	110	5.81e-15	SMART
LDLa	112	151	1.96e-12	SMART
LDLa	153	190	7.15e-15	SMART
LDLa	192	231	1.23e-13	SMART
LDLa	238	275	1.1e-15	SMART
LDLa	277	314	1.13e-12	SMART
LDLa	317	357	3.86e-11	SMART
EGF_CA	356	395	1e-5	SMART
EGF_CA	396	435	6.1e-10	SMART
LY	461	503	2.16e-1	SMART
LY	505	547	9.54e-12	SMART
LY	548	591	2.22e-12	SMART
LY	592	634	1.66e-11	SMART
LY	635	678	5.97e-4	SMART
EGF	705	750	2.16e-1	SMART
transmembrane domain	797	819	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172302
AA Change: A436T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: A436T

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF_like	32	68	7.38e1	SMART
LDLa	32	69	1.69e-16	SMART
LDLa	71	110	5.81e-15	SMART
LDLa	112	151	1.96e-12	SMART
LDLa	153	190	7.15e-15	SMART
LDLa	192	231	1.23e-13	SMART
LDLa	238	275	1.1e-15	SMART
LDLa	277	314	1.13e-12	SMART
LDLa	317	357	3.86e-11	SMART
EGF_CA	356	395	1e-5	SMART
EGF_CA	396	435	6.1e-10	SMART
LY	461	503	2.16e-1	SMART
LY	505	547	9.54e-12	SMART
LY	548	591	2.22e-12	SMART
LY	592	634	1.66e-11	SMART
LY	635	678	5.97e-4	SMART
EGF	705	750	2.16e-1	SMART
transmembrane domain	769	791	N/A	INTRINSIC

Meta Mutation Damage Score

0.1176

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (29/29)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Homozygous null mutants exhibit modest reductions in body weight and adiposity. In behavioral tests, mutants display deficits in contextual fear conditioning and long term potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,171,342 (GRCm39)		probably benign	Het
Agrn	A	T	4: 156,264,010 (GRCm39)	D84E	probably benign	Het
Akap11	A	G	14: 78,751,464 (GRCm39)	S308P	probably damaging	Het
Atp6v1c2	A	T	12: 17,357,509 (GRCm39)		probably null	Het
AW209491	A	G	13: 14,811,558 (GRCm39)	Y137C	probably damaging	Het
Chst9	G	A	18: 15,628,387 (GRCm39)		probably benign	Het
Dok7	A	G	5: 35,223,826 (GRCm39)	T122A	probably damaging	Het
Hoxb5	T	C	11: 96,194,854 (GRCm39)	S139P	possibly damaging	Het
Ikzf4	T	A	10: 128,477,118 (GRCm39)	E64D	probably benign	Het
Kif21a	C	A	15: 90,843,886 (GRCm39)		probably benign	Het
Klhl41	G	A	2: 69,500,554 (GRCm39)	R5Q	probably benign	Het
Lama3	C	T	18: 12,658,951 (GRCm39)	R2036C	probably damaging	Het
Lrba	T	A	3: 86,622,839 (GRCm39)	V311D	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mylk	T	C	16: 34,820,757 (GRCm39)	V1903A	possibly damaging	Het
Naa30	C	T	14: 49,410,534 (GRCm39)	A154V	possibly damaging	Het
Or2ag1	T	A	7: 106,313,528 (GRCm39)	Y120F	probably damaging	Het
Or52z12	T	C	7: 103,233,468 (GRCm39)	S80P	probably damaging	Het
Or8g24	G	T	9: 38,989,625 (GRCm39)	Q139K	probably benign	Het
Pgm3	C	T	9: 86,449,589 (GRCm39)	V144M	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rgsl1	T	A	1: 153,701,927 (GRCm39)	S211C	probably damaging	Het
Setx	T	C	2: 29,048,260 (GRCm39)	Y1954H	possibly damaging	Het
Sorcs3	C	T	19: 48,791,137 (GRCm39)	Q1162*	probably null	Het
Sptbn2	T	A	19: 4,776,718 (GRCm39)	D255E	probably damaging	Het
Ttc39b	T	C	4: 83,145,435 (GRCm39)	E597G	probably damaging	Het
Wdr72	G	A	9: 74,064,690 (GRCm39)	G574D	probably damaging	Het
Zzz3	T	G	3: 152,154,465 (GRCm39)	I572S	probably damaging	Het

Other mutations in Vldlr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Vldlr	APN	19	27,217,081 (GRCm39)	missense	possibly damaging	0.93
IGL01575:Vldlr	APN	19	27,224,031 (GRCm39)	missense	probably benign
IGL01626:Vldlr	APN	19	27,221,173 (GRCm39)	missense	probably damaging	1.00
IGL02213:Vldlr	APN	19	27,218,726 (GRCm39)	missense	probably benign	0.09
IGL02365:Vldlr	APN	19	27,223,025 (GRCm39)	missense	probably damaging	1.00
IGL02488:Vldlr	APN	19	27,215,675 (GRCm39)	missense	probably damaging	1.00
IGL02708:Vldlr	APN	19	27,215,485 (GRCm39)	missense	possibly damaging	0.92
IGL02947:Vldlr	APN	19	27,217,120 (GRCm39)	missense	probably benign	0.03
disturbed	UTSW	19	27,216,204 (GRCm39)	nonsense	probably null
r26	UTSW	19	27,223,054 (GRCm39)	missense	probably damaging	0.99
spotty	UTSW	19	27,216,192 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Vldlr	UTSW	19	27,212,269 (GRCm39)	missense	probably benign	0.05
R0195:Vldlr	UTSW	19	27,215,786 (GRCm39)	missense	probably damaging	1.00
R0288:Vldlr	UTSW	19	27,218,051 (GRCm39)	splice site	probably benign
R0537:Vldlr	UTSW	19	27,225,318 (GRCm39)	missense	probably damaging	1.00
R0542:Vldlr	UTSW	19	27,213,655 (GRCm39)	missense	probably benign	0.01
R0594:Vldlr	UTSW	19	27,212,219 (GRCm39)	missense	probably damaging	1.00
R0624:Vldlr	UTSW	19	27,215,663 (GRCm39)	missense	possibly damaging	0.91
R0726:Vldlr	UTSW	19	27,215,786 (GRCm39)	missense	probably damaging	1.00
R1017:Vldlr	UTSW	19	27,218,733 (GRCm39)	missense	probably damaging	1.00
R1148:Vldlr	UTSW	19	27,218,691 (GRCm39)	missense	probably benign	0.01
R1148:Vldlr	UTSW	19	27,218,691 (GRCm39)	missense	probably benign	0.01
R1443:Vldlr	UTSW	19	27,217,121 (GRCm39)	missense	possibly damaging	0.91
R1493:Vldlr	UTSW	19	27,218,691 (GRCm39)	missense	probably benign	0.01
R1520:Vldlr	UTSW	19	27,224,466 (GRCm39)	missense	possibly damaging	0.96
R1520:Vldlr	UTSW	19	27,217,943 (GRCm39)	missense	probably damaging	0.99
R1657:Vldlr	UTSW	19	27,223,070 (GRCm39)	missense	probably benign	0.00
R1901:Vldlr	UTSW	19	27,218,709 (GRCm39)	missense	probably damaging	1.00
R2047:Vldlr	UTSW	19	27,212,238 (GRCm39)	missense	probably damaging	1.00
R2258:Vldlr	UTSW	19	27,215,786 (GRCm39)	missense	probably damaging	1.00
R2273:Vldlr	UTSW	19	27,225,415 (GRCm39)	missense	probably damaging	1.00
R2423:Vldlr	UTSW	19	27,213,688 (GRCm39)	missense	possibly damaging	0.49
R3196:Vldlr	UTSW	19	27,220,554 (GRCm39)	missense	probably damaging	0.98
R3752:Vldlr	UTSW	19	27,215,731 (GRCm39)	missense	probably damaging	1.00
R3801:Vldlr	UTSW	19	27,195,021 (GRCm39)	missense	probably damaging	0.99
R3835:Vldlr	UTSW	19	27,212,214 (GRCm39)	missense	probably damaging	1.00
R4027:Vldlr	UTSW	19	27,215,713 (GRCm39)	missense	probably benign
R4301:Vldlr	UTSW	19	27,215,802 (GRCm39)	missense	possibly damaging	0.80
R4470:Vldlr	UTSW	19	27,212,219 (GRCm39)	missense	probably damaging	0.96
R4541:Vldlr	UTSW	19	27,216,192 (GRCm39)	missense	probably damaging	1.00
R4765:Vldlr	UTSW	19	27,217,947 (GRCm39)	missense	probably damaging	1.00
R4771:Vldlr	UTSW	19	27,217,290 (GRCm39)	missense	probably damaging	0.97
R4795:Vldlr	UTSW	19	27,216,252 (GRCm39)	splice site	probably null
R4839:Vldlr	UTSW	19	27,215,465 (GRCm39)	missense	probably damaging	1.00
R5074:Vldlr	UTSW	19	27,215,677 (GRCm39)	missense	probably damaging	1.00
R5134:Vldlr	UTSW	19	27,216,212 (GRCm39)	nonsense	probably null
R5281:Vldlr	UTSW	19	27,221,631 (GRCm39)	missense	probably benign	0.44
R5466:Vldlr	UTSW	19	27,217,243 (GRCm39)	critical splice acceptor site	probably null
R5514:Vldlr	UTSW	19	27,221,624 (GRCm39)	missense	probably damaging	0.97
R5886:Vldlr	UTSW	19	27,221,171 (GRCm39)	missense	probably benign	0.03
R5889:Vldlr	UTSW	19	27,217,064 (GRCm39)	missense	probably damaging	1.00
R6110:Vldlr	UTSW	19	27,215,477 (GRCm39)	missense	possibly damaging	0.92
R6343:Vldlr	UTSW	19	27,223,049 (GRCm39)	missense	probably damaging	0.99
R6833:Vldlr	UTSW	19	27,217,974 (GRCm39)	missense	probably damaging	1.00
R6838:Vldlr	UTSW	19	27,225,370 (GRCm39)	missense	probably damaging	1.00
R7169:Vldlr	UTSW	19	27,221,728 (GRCm39)	missense	probably benign
R7197:Vldlr	UTSW	19	27,212,241 (GRCm39)	missense	probably benign	0.36
R7304:Vldlr	UTSW	19	27,216,004 (GRCm39)	missense	possibly damaging	0.93
R7403:Vldlr	UTSW	19	27,213,674 (GRCm39)	nonsense	probably null
R7658:Vldlr	UTSW	19	27,220,536 (GRCm39)	missense	probably benign	0.33
R7754:Vldlr	UTSW	19	27,195,015 (GRCm39)	start codon destroyed	probably benign	0.01
R8105:Vldlr	UTSW	19	27,216,204 (GRCm39)	nonsense	probably null
R8377:Vldlr	UTSW	19	27,212,258 (GRCm39)	missense	probably damaging	1.00
R8529:Vldlr	UTSW	19	27,207,656 (GRCm39)	missense	probably benign	0.03
R8777:Vldlr	UTSW	19	27,217,946 (GRCm39)	missense	probably benign	0.00
R8777-TAIL:Vldlr	UTSW	19	27,217,946 (GRCm39)	missense	probably benign	0.00
R9380:Vldlr	UTSW	19	27,216,192 (GRCm39)	missense	possibly damaging	0.63
R9400:Vldlr	UTSW	19	27,216,175 (GRCm39)	missense	probably damaging	0.99
R9483:Vldlr	UTSW	19	27,224,031 (GRCm39)	missense	probably benign	0.00
R9502:Vldlr	UTSW	19	27,218,742 (GRCm39)	missense	probably damaging	1.00
R9509:Vldlr	UTSW	19	27,221,687 (GRCm39)	missense	probably benign	0.44
R9630:Vldlr	UTSW	19	27,207,623 (GRCm39)	missense	probably damaging	1.00
R9767:Vldlr	UTSW	19	27,212,274 (GRCm39)	missense	probably damaging	1.00
R9768:Vldlr	UTSW	19	27,218,720 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- GGCTGTTCCCATATCTGCAAAGACC -3'
(R):5'- TCAGCTATCCTGCTGCACTCAGAG -3'

Sequencing Primer
(F):5'- GCAAAGACCTAGTTATAGGTTATGAG -3'
(R):5'- CCTGCTGCACTCAGAGTTTAATAG -3'

Posted On

2013-06-12