Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02213:Vldlr'

284741

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vldlr

Ensembl Gene

ENSMUSG00000024924

Gene Name

very low density lipoprotein receptor

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

IGL02213

Quality Score

Status

Chromosome

Chromosomal Location

27193884-27231631 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27218726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 485 (T485A)

Ref Sequence

ENSEMBL: ENSMUSP00000049145 (fasta)

Gene Model

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

AlphaFold

P98156

Predicted Effect

probably benign
Transcript: ENSMUST00000025866

SMART Domains

Protein: ENSMUSP00000025866
Gene: ENSMUSG00000024924

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 benign
Transcript: ENSMUST00000047645
AA Change: T485A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000049145
Gene: ENSMUSG00000024924
AA Change: T485A

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
AA Change: T153A

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

SMART Domains

Protein: ENSMUSP00000130382
Gene: ENSMUSG00000024924
AA Change: T153A

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 benign
Transcript: ENSMUST00000167487
AA Change: T526A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000127329
Gene: ENSMUSG00000024924
AA Change: T526A

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 benign
Transcript: ENSMUST00000172302
AA Change: T526A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000126730
Gene: ENSMUSG00000024924
AA Change: T526A

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

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	G	A	9: 54,523,254 (GRCm39)	R458C	probably damaging	Het
Aldh6a1	T	A	12: 84,479,326 (GRCm39)		probably benign	Het
Ankrd13a	C	T	5: 114,924,029 (GRCm39)	R42W	probably damaging	Het
Arhgef17	T	C	7: 100,539,633 (GRCm39)	M73V	probably benign	Het
Borcs6	A	G	11: 68,950,679 (GRCm39)	E19G	probably benign	Het
Cacna2d2	C	T	9: 107,391,247 (GRCm39)	R425C	probably damaging	Het
Cap2	T	A	13: 46,789,087 (GRCm39)		probably benign	Het
Ccdc146	C	T	5: 21,521,902 (GRCm39)	R374H	probably benign	Het
Cdk5rap2	A	G	4: 70,235,839 (GRCm39)		probably benign	Het
Cyp3a57	A	G	5: 145,318,090 (GRCm39)	D357G	probably damaging	Het
Dleu7	C	T	14: 62,514,404 (GRCm39)	V193M	probably benign	Het
Dmxl1	T	A	18: 50,010,741 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,272,752 (GRCm39)	F2293L	probably damaging	Het
Fgf22	G	T	10: 79,592,449 (GRCm39)	V75L	probably damaging	Het
Fras1	C	A	5: 96,793,730 (GRCm39)	C1017*	probably null	Het
Frmd3	A	C	4: 74,054,109 (GRCm39)	I173L	probably benign	Het
Fst	T	C	13: 114,592,390 (GRCm39)	N109S	possibly damaging	Het
Greb1	A	G	12: 16,756,233 (GRCm39)	L801P	probably damaging	Het
Ift88	A	G	14: 57,715,502 (GRCm39)	D515G	probably damaging	Het
Kcnh7	T	C	2: 62,569,706 (GRCm39)	D730G	probably damaging	Het
Mbd1	A	T	18: 74,408,453 (GRCm39)	I231F	probably damaging	Het
Mre11a	T	A	9: 14,723,180 (GRCm39)	F358I	probably damaging	Het
Mroh9	G	T	1: 162,885,648 (GRCm39)	T328K	probably damaging	Het
Nostrin	T	C	2: 69,014,262 (GRCm39)	L406P	probably benign	Het
Ntrk3	T	A	7: 78,112,679 (GRCm39)	Q159L	probably benign	Het
Oca2	T	C	7: 55,971,232 (GRCm39)		probably benign	Het
Or4k49	A	T	2: 111,495,020 (GRCm39)	T150S	probably benign	Het
Or51af1	T	A	7: 103,141,695 (GRCm39)	H130L	probably benign	Het
Or5p54	T	C	7: 107,554,511 (GRCm39)	I221T	probably damaging	Het
Pfdn4	C	T	2: 170,357,695 (GRCm39)	Q21*	probably null	Het
Pkd1l3	T	C	8: 110,357,977 (GRCm39)	F823S	probably damaging	Het
Rnf212	C	T	5: 108,895,276 (GRCm39)		probably benign	Het
Sbspon	T	C	1: 15,929,150 (GRCm39)	S214G	probably benign	Het
Slc12a7	T	C	13: 73,945,822 (GRCm39)		probably null	Het
Ugt3a1	A	T	15: 9,370,310 (GRCm39)	M485L	probably benign	Het
Vav1	T	C	17: 57,612,351 (GRCm39)	V561A	possibly damaging	Het
Wiz	T	C	17: 32,586,834 (GRCm39)	T159A	probably benign	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
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
R0536:Vldlr	UTSW	19	27,217,364 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16