Mutagenetix > Incidental Mutation

Incidental Mutation 'R6997:Osbpl1a'

544315

Institutional Source

Beutler Lab

Gene Symbol

Osbpl1a

Ensembl Gene

ENSMUSG00000044252

Gene Name

oxysterol binding protein-like 1A

Synonyms

LOC328902, G430090F17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12755314-12941841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12756224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 432 (N432S)

Ref Sequence

ENSEMBL: ENSMUSP00000112895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000080415] [ENSMUST00000115857] [ENSMUST00000117361] [ENSMUST00000118313] [ENSMUST00000119043] [ENSMUST00000119108] [ENSMUST00000119512] [ENSMUST00000121018] [ENSMUST00000121774] [ENSMUST00000121808] [ENSMUST00000121888] [ENSMUST00000150758] [ENSMUST00000186263] [ENSMUST00000191078]

AlphaFold

Q91XL9

Predicted Effect

probably benign
Transcript: ENSMUST00000074352
AA Change: N945S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: N945S

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: ENSMUST00000080415

SMART Domains

Protein: ENSMUSP00000079277
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115857

SMART Domains

Protein: ENSMUSP00000111523
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.2e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117361
AA Change: N432S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: N432S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000118313
AA Change: N432S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: N432S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119043
AA Change: N432S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: N432S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119108

SMART Domains

Protein: ENSMUSP00000113760
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	8.5e-13	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119512
AA Change: N553S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: N553S

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: ENSMUST00000121018

SMART Domains

Protein: ENSMUSP00000113131
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	6.7e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC
low complexity region	213	223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121774
AA Change: N405S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
AA Change: N405S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121808
AA Change: N432S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: N432S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121888
AA Change: N432S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: N432S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150758

SMART Domains

Protein: ENSMUSP00000118330
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186263

SMART Domains

Protein: ENSMUSP00000140870
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191078

SMART Domains

Protein: ENSMUSP00000140894
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (58/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 24,681,523	Y764C	probably benign	Het
Atxn1	C	T	13: 45,567,619	V267M	probably benign	Het
Cadps	T	A	14: 12,505,793	H759L	possibly damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Caprin2	A	G	6: 148,877,976	L111P	probably damaging	Het
Ccl8	A	T	11: 82,116,039	D26V	possibly damaging	Het
Cdh19	T	C	1: 110,954,866		probably benign	Het
Cnga3	C	A	1: 37,244,884	H89Q	probably benign	Het
Cnga4	A	T	7: 105,406,983	Q264L	probably damaging	Het
Coil	A	G	11: 88,981,847	T345A	probably benign	Het
Cyp11b2	A	G	15: 74,851,432	L461P	probably damaging	Het
Dock2	T	C	11: 34,464,922	E151G	probably damaging	Het
Dsc1	C	T	18: 20,086,644		probably null	Het
Dync2h1	A	T	9: 7,168,743	C357S	probably null	Het
Ebf3	A	C	7: 137,225,265	I306R	probably damaging	Het
Eprs	A	G	1: 185,396,163	H580R	possibly damaging	Het
Ermap	A	T	4: 119,178,613	F393I	probably damaging	Het
Flii	T	C	11: 60,722,325	T217A	probably benign	Het
Fras1	C	T	5: 96,614,873	Q745*	probably null	Het
Gja8	A	G	3: 96,919,341	V335A	probably benign	Het
Gm21560	A	T	14: 6,218,333	N48K	probably damaging	Het
Gpr158	C	T	2: 21,648,991	T457I	possibly damaging	Het
Kcnv1	A	T	15: 45,114,601	S14T	unknown	Het
Lamb2	T	C	9: 108,481,297	Y178H	probably damaging	Het
Lamc2	G	A	1: 153,136,762	T722M	probably benign	Het
Map1b	T	C	13: 99,430,634	T1860A	unknown	Het
Map2k7	T	C	8: 4,244,035	Y194H	possibly damaging	Het
Map4	T	A	9: 110,052,914	M282K	probably benign	Het
Mkl1	G	T	15: 81,018,448	S220*	probably null	Het
Mmp10	A	G	9: 7,503,530	I134V	probably benign	Het
Msh5	A	T	17: 35,030,002	L685Q	probably damaging	Het
Myh1	T	A	11: 67,220,637	I1634N	possibly damaging	Het
Myh13	C	T	11: 67,327,154	R18*	probably null	Het
Myo3b	A	T	2: 70,126,985	I185L	probably damaging	Het
Ninl	G	T	2: 150,966,225	H294Q	probably benign	Het
Olfr1252	G	A	2: 89,721,925	A62V	possibly damaging	Het
Olfr64	A	T	7: 103,893,031	S235T	probably benign	Het
Olfr907	T	C	9: 38,499,311	I214T	possibly damaging	Het
Orm3	T	A	4: 63,356,943	L97Q	probably damaging	Het
Pikfyve	T	A	1: 65,246,663	D1020E	probably damaging	Het
Pxk	T	A	14: 8,122,371	D60E	probably benign	Het
Rack1	T	A	11: 48,803,925	V198E	probably damaging	Het
Ripk1	C	T	13: 34,017,117	A271V	probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Ryr2	G	T	13: 11,654,380	H3513N	possibly damaging	Het
Scn7a	A	T	2: 66,703,803	D509E	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Sfxn5	A	G	6: 85,256,432	V181A	probably benign	Het
Slc5a4b	C	T	10: 76,089,978	A198T	probably damaging	Het
Sp2	C	T	11: 96,957,726	R357H	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tnfrsf11b	G	A	15: 54,252,374	L276F	probably damaging	Het
Usp37	A	G	1: 74,453,959	V723A	probably benign	Het
Usp45	G	T	4: 21,781,844	R36I	probably damaging	Het
Vcan	T	C	13: 89,690,618	D2269G	probably damaging	Het
Vmn2r18	T	A	5: 151,561,873	M719L	possibly damaging	Het
Vmn2r52	C	T	7: 10,169,071	G477R	probably benign	Het
Vmn2r60	C	A	7: 42,142,292	N546K	probably benign	Het
Wnt8b	G	A	19: 44,511,841	C289Y	probably damaging	Het
Zdbf2	T	G	1: 63,290,766	M10R	probably benign	Het
Zfp945	T	A	17: 22,852,569	K140*	probably null	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
R2762:Osbpl1a	UTSW	18	12766899	missense	possibly damaging	0.83
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
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'- AGCTTCTCACTGGCCATGAG -3'
(R):5'- GGTCACTCAGGACATCCATGAC -3'

Sequencing Primer
(F):5'- TCACTGGCCATGAGCAGGG -3'
(R):5'- GGACATCCATGACACACAGAG -3'

Posted On

2019-05-13