Mutagenetix > Incidental Mutation

Incidental Mutation 'R2762:Osbpl1a'

254131

Institutional Source

Beutler Lab

Gene Symbol

Osbpl1a

Ensembl Gene

ENSMUSG00000044252

Gene Name

oxysterol binding protein-like 1A

Synonyms

LOC328902, G430090F17Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R2762 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12755314-12941841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12766899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 274 (D274G)

Ref Sequence

ENSEMBL: ENSMUSP00000113914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000117361] [ENSMUST00000118313] [ENSMUST00000119043] [ENSMUST00000119512] [ENSMUST00000121774] [ENSMUST00000121808] [ENSMUST00000121888] [ENSMUST00000143077] [ENSMUST00000155650]

AlphaFold

Q91XL9

Predicted Effect

probably benign
Transcript: ENSMUST00000074352
AA Change: D666G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: D666G

Domain	Start	End	E-Value	Type
ANK	47	76	2.05e-6	SMART
ANK	80	109	1.29e-3	SMART
low complexity region	141	153	N/A	INTRINSIC
ANK	175	204	1.31e-4	SMART
PH	236	336	6.02e-8	SMART
low complexity region	345	354	N/A	INTRINSIC
coiled coil region	430	463	N/A	INTRINSIC
Pfam:Oxysterol_BP	548	940	6.7e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117361
AA Change: D153G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: D153G

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118313
AA Change: D153G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: D153G

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119043
AA Change: D153G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: D153G

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119512
AA Change: D274G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: D274G

Domain	Start	End	E-Value	Type
coiled coil region	38	71	N/A	INTRINSIC
Pfam:Oxysterol_BP	156	549	1.2e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121774
AA Change: D126G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
AA Change: D126G

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	8	401	4e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121808
AA Change: D153G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: D153G

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121888
AA Change: D153G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: D153G

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143077
AA Change: D153G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000122967
Gene: ENSMUSG00000044252
AA Change: D153G

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	184	3.5e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154614

Predicted Effect

probably benign
Transcript: ENSMUST00000155650

SMART Domains

Protein: ENSMUSP00000120439
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
coiled coil region	13	46	N/A	INTRINSIC
Pfam:Oxysterol_BP	131	187	1.3e-23	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	A	12: 112,785,364	T288S	probably damaging	Het
Alg11	C	A	8: 22,068,079	A469E	probably benign	Het
Baiap3	A	G	17: 25,244,575	L909P	probably damaging	Het
Bicd1	C	T	6: 149,520,403	A874V	probably damaging	Het
Dusp3	T	C	11: 101,974,835	T178A	probably benign	Het
En2	T	C	5: 28,170,421	S321P	probably damaging	Het
Ext1	G	A	15: 53,344,927	S146L	probably benign	Het
Gm9923	C	A	10: 72,309,630	H104N	probably benign	Het
Igtp	A	G	11: 58,206,065	M21V	possibly damaging	Het
Irs2	T	C	8: 11,006,408	S675G	probably damaging	Het
Klhl36	T	A	8: 119,869,974	L138Q	probably damaging	Het
Kmt2d	T	C	15: 98,852,055		probably benign	Het
Nox3	A	G	17: 3,696,158	V35A	probably benign	Het
Plec	C	T	15: 76,172,286	G4349S	probably damaging	Het
Ppip5k2	A	C	1: 97,717,509	S1073R	probably damaging	Het
Prkcq	A	G	2: 11,232,640	K77E	possibly damaging	Het
Prss1	T	C	6: 41,463,281	V184A	possibly damaging	Het
Rnf111	T	A	9: 70,476,045	H202L	possibly damaging	Het
S100pbp	G	A	4: 129,155,426	R308*	probably null	Het
Sgcb	A	T	5: 73,635,709		probably null	Het
Spam1	T	C	6: 24,796,643	F198L	possibly damaging	Het
Tbc1d4	A	C	14: 101,494,361	C472G	probably damaging	Het
Tonsl	T	C	15: 76,630,620	N1128S	probably damaging	Het
Ttn	C	T	2: 76,798,103	R14571Q	probably damaging	Het
Tubb4a	T	A	17: 57,080,974	T351S	probably benign	Het
Ulk1	C	T	5: 110,789,357	R691Q	probably benign	Het
Wasl	T	C	6: 24,619,501	Y340C	unknown	Het

Other mutations in Osbpl1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Osbpl1a	APN	18	12757626	missense	possibly damaging	0.51
IGL01062:Osbpl1a	APN	18	12905075	missense	probably benign
IGL01450:Osbpl1a	APN	18	12871095	missense	possibly damaging	0.88
IGL01531:Osbpl1a	APN	18	12933581	missense	probably damaging	1.00
IGL01548:Osbpl1a	APN	18	12763575	missense	probably damaging	1.00
IGL01606:Osbpl1a	APN	18	12756214	missense	possibly damaging	0.79
IGL01672:Osbpl1a	APN	18	12766824	missense	probably damaging	1.00
IGL02372:Osbpl1a	APN	18	12841313	nonsense	probably null
IGL02451:Osbpl1a	APN	18	12914493	splice site	probably benign
IGL02490:Osbpl1a	APN	18	12882284	unclassified	probably benign
IGL02884:Osbpl1a	APN	18	12819578	nonsense	probably null
R0084:Osbpl1a	UTSW	18	12757612	missense	probably benign	0.07
R0266:Osbpl1a	UTSW	18	12871163	splice site	probably null
R0565:Osbpl1a	UTSW	18	12759444	missense	probably damaging	1.00
R0605:Osbpl1a	UTSW	18	12882279	critical splice acceptor site	probably null
R0899:Osbpl1a	UTSW	18	12757690	missense	possibly damaging	0.70
R1330:Osbpl1a	UTSW	18	12882194	critical splice donor site	probably null
R1464:Osbpl1a	UTSW	18	12914558	missense	probably benign
R1464:Osbpl1a	UTSW	18	12914558	missense	probably benign
R1475:Osbpl1a	UTSW	18	12757680	missense	probably damaging	1.00
R1495:Osbpl1a	UTSW	18	12758839	missense	probably benign	0.08
R1734:Osbpl1a	UTSW	18	12788316	splice site	probably null
R1930:Osbpl1a	UTSW	18	12905194	missense	probably benign	0.04
R1931:Osbpl1a	UTSW	18	12905194	missense	probably benign	0.04
R2109:Osbpl1a	UTSW	18	12759400	missense	probably damaging	1.00
R2144:Osbpl1a	UTSW	18	12871173	missense	probably benign	0.06
R2504:Osbpl1a	UTSW	18	12905031	missense	probably benign	0.30
R2907:Osbpl1a	UTSW	18	12871072	unclassified	probably benign
R4306:Osbpl1a	UTSW	18	12819595	missense	probably benign
R4835:Osbpl1a	UTSW	18	12768536	critical splice donor site	probably null
R5097:Osbpl1a	UTSW	18	12763537	missense	probably damaging	1.00
R5173:Osbpl1a	UTSW	18	12762640	missense	probably benign	0.12
R5224:Osbpl1a	UTSW	18	12933696	missense	probably benign	0.01
R5245:Osbpl1a	UTSW	18	12758853	missense	probably damaging	1.00
R5579:Osbpl1a	UTSW	18	12841192	missense	probably damaging	1.00
R5579:Osbpl1a	UTSW	18	12892262	missense	probably benign	0.22
R5833:Osbpl1a	UTSW	18	12788362	missense	probably damaging	1.00
R5986:Osbpl1a	UTSW	18	12905081	missense	probably damaging	1.00
R6267:Osbpl1a	UTSW	18	12819503	critical splice donor site	probably null
R6296:Osbpl1a	UTSW	18	12819503	critical splice donor site	probably null
R6477:Osbpl1a	UTSW	18	12756261	missense	probably benign	0.03
R6997:Osbpl1a	UTSW	18	12756224	missense	probably benign	0.05
R7105:Osbpl1a	UTSW	18	12766963	missense	probably benign	0.17
R7107:Osbpl1a	UTSW	18	12841253	nonsense	probably null
R7154:Osbpl1a	UTSW	18	12768592	missense	probably benign	0.00
R7459:Osbpl1a	UTSW	18	12933585	missense	probably damaging	1.00
R7757:Osbpl1a	UTSW	18	12933600	missense	probably benign	0.44
R7797:Osbpl1a	UTSW	18	12882264	missense	probably damaging	0.99
R8029:Osbpl1a	UTSW	18	12914521	missense	probably benign	0.01
R8084:Osbpl1a	UTSW	18	12905042	missense	probably damaging	1.00
R8506:Osbpl1a	UTSW	18	12768586	missense	probably benign	0.02
R8947:Osbpl1a	UTSW	18	12766801	critical splice donor site	probably null
R9069:Osbpl1a	UTSW	18	12869017	intron	probably benign
R9085:Osbpl1a	UTSW	18	12929036	missense	probably damaging	1.00
R9288:Osbpl1a	UTSW	18	12771345	missense	probably damaging	1.00
R9443:Osbpl1a	UTSW	18	12898187	missense	probably benign	0.00
R9517:Osbpl1a	UTSW	18	12909908	missense	probably benign
R9600:Osbpl1a	UTSW	18	12882220	missense	probably benign	0.00
R9658:Osbpl1a	UTSW	18	12756212	missense	probably benign	0.05
R9694:Osbpl1a	UTSW	18	12819508	missense	probably benign	0.03
X0027:Osbpl1a	UTSW	18	12759503	missense	possibly damaging	0.46
Z1177:Osbpl1a	UTSW	18	12906923	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATGATCCTCAGCTGGACAGG -3'
(R):5'- TTCCTCATGTAAGGCCACGC -3'

Sequencing Primer
(F):5'- TCAGCTGGACAGGCATGGTC -3'
(R):5'- TCCTCATGTAAGGCCACGCTATAATG -3'

Posted On

2014-12-04