Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:Osbpl10'

49374

Institutional Source

Beutler Lab

Gene Symbol

Osbpl10

Ensembl Gene

ENSMUSG00000040875

Gene Name

oxysterol binding protein-like 10

Synonyms

C820004B04Rik, OPR-10, 4933433D06Rik

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0534 (G1)

Quality Score

133

Status

Not validated

Chromosome

Chromosomal Location

114978569-115232225 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115167178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 139 (L139F)

Ref Sequence

ENSEMBL: ENSMUSP00000138760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046627] [ENSMUST00000182199] [ENSMUST00000182384] [ENSMUST00000183104] [ENSMUST00000183141]

AlphaFold

S4R1M9

Predicted Effect

probably damaging
Transcript: ENSMUST00000046627
AA Change: L103F

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

SMART Domains

Protein: ENSMUSP00000038013
Gene: ENSMUSG00000040875
AA Change: L103F

Domain	Start	End	E-Value	Type
low complexity region	95	116	N/A	INTRINSIC
Pfam:Oxysterol_BP	229	535	7.8e-70	PFAM
Pfam:Oxysterol_BP	532	589	1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182199

SMART Domains

Protein: ENSMUSP00000138206
Gene: ENSMUSG00000040875

Domain	Start	End	E-Value	Type
Blast:PH	1	36	8e-19	BLAST
PDB:2D9X\|A	1	42	2e-8	PDB
SCOP:d1ki1b2	10	42	7e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182363

Predicted Effect

probably damaging
Transcript: ENSMUST00000182384
AA Change: L139F

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

SMART Domains

Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
AA Change: L139F

Domain	Start	End	E-Value	Type
Blast:PH	1	36	8e-16	BLAST
PDB:2D9X\|A	2	46	6e-7	PDB
SCOP:d1ki1b2	10	42	9e-3	SMART
low complexity region	131	152	N/A	INTRINSIC
Pfam:Oxysterol_BP	262	626	1.5e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182413

Predicted Effect

probably damaging
Transcript: ENSMUST00000183104
AA Change: L278F

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

SMART Domains

Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: L278F

Domain	Start	End	E-Value	Type
low complexity region	4	75	N/A	INTRINSIC
PH	77	175	2.72e-15	SMART
low complexity region	270	291	N/A	INTRINSIC
Pfam:Oxysterol_BP	401	765	1.4e-72	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183141
AA Change: L139F

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

SMART Domains

Protein: ENSMUSP00000138760
Gene: ENSMUSG00000040875
AA Change: L139F

Domain	Start	End	E-Value	Type
Blast:PH	1	36	3e-18	BLAST
PDB:2D9X\|A	2	46	6e-8	PDB
SCOP:d1ki1b2	10	42	9e-4	SMART
low complexity region	131	152	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

96% (47/49)

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. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	T	C	10: 116,112,802	E273G	possibly damaging	Het
4933425L06Rik	C	A	13: 105,082,254	S32*	probably null	Het
Cand2	A	G	6: 115,787,236	M324V	probably damaging	Het
Cap1	C	T	4: 122,862,719	V340M	probably benign	Het
Ccdc110	T	C	8: 45,935,138	V44A	possibly damaging	Het
Cps1	A	G	1: 67,143,900	D139G	probably benign	Het
Cwc27	T	A	13: 104,631,616	E457V	unknown	Het
Cxxc1	C	T	18: 74,218,891	P280S	probably benign	Het
Dopey2	T	A	16: 93,762,505	L595Q	probably benign	Het
Dscam	G	T	16: 96,652,172	S1292R	possibly damaging	Het
E2f4	C	A	8: 105,304,219	F353L	probably damaging	Het
Ep300	A	G	15: 81,600,896		probably benign	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
Fign	T	A	2: 63,980,791	H45L	probably damaging	Het
Flcn	T	A	11: 59,794,199		probably benign	Het
Gm5141	A	T	13: 62,774,594	F254I	probably damaging	Het
Gpbp1l1	T	A	4: 116,591,268	N402K	probably damaging	Het
Gpr37	A	T	6: 25,669,824	C340*	probably null	Het
Gtf3c2	A	T	5: 31,158,132		probably benign	Het
Hcfc2	T	A	10: 82,738,408	F139I	probably damaging	Het
Hectd4	T	C	5: 121,348,476	L3178P	possibly damaging	Het
Hrc	AGAGGAGGAGGAAGAGGAGGAGGA	AGAGGAGGAGGAGGAAGAGGAGGAGGA	7: 45,337,235		probably benign	Het
Igf2bp1	A	G	11: 95,966,796		probably benign	Het
Igsf9b	T	G	9: 27,333,062		probably null	Het
Il23r	G	A	6: 67,426,588	A443V	probably benign	Het
Kcnv1	A	G	15: 45,109,249	F413L	probably damaging	Het
Lipe	C	A	7: 25,388,186	A150S	possibly damaging	Het
Lrrcc1	T	C	3: 14,557,273	S557P	probably damaging	Het
Mrpl54	C	A	10: 81,266,853	W13L	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Npy1r	C	A	8: 66,705,018	Q327K	probably damaging	Het
Olfr64	C	T	7: 103,893,231	R168H	probably benign	Het
P2rx6	A	C	16: 17,567,904	T199P	probably damaging	Het
Phyhip	A	T	14: 70,461,759	M1L	possibly damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Psmc1	T	A	12: 100,120,130	I342N	possibly damaging	Het
Reln	A	T	5: 21,947,408	D2353E	probably damaging	Het
Rmdn3	T	C	2: 119,146,370	E294G	probably benign	Het
Scnn1g	A	G	7: 121,767,424	M615V	probably benign	Het
Shcbp1l	T	A	1: 153,428,568	D124E	possibly damaging	Het
Sipa1l1	T	C	12: 82,425,280	S1345P	possibly damaging	Het
Soga3	T	A	10: 29,180,956		probably benign	Het
St5	A	T	7: 109,541,428	V197D	probably damaging	Het
Timp4	A	G	6: 115,249,841	Y114H	probably damaging	Het
Tlr9	T	A	9: 106,224,887	L459Q	probably benign	Het
Tmem104	C	A	11: 115,200,828	T59K	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Zfp622	A	T	15: 25,984,568	I7F	possibly damaging	Het

Other mutations in Osbpl10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Osbpl10	APN	9	115176002	missense	probably benign	0.01
IGL01318:Osbpl10	APN	9	115232122	nonsense	probably null
IGL02023:Osbpl10	APN	9	115226722	missense	probably damaging	1.00
IGL02096:Osbpl10	APN	9	115216994	missense	possibly damaging	0.94
Weeblo	UTSW	9	115207620	missense	probably damaging	1.00
R0948:Osbpl10	UTSW	9	115167119	missense	probably damaging	1.00
R1073:Osbpl10	UTSW	9	115207553	nonsense	probably null
R2138:Osbpl10	UTSW	9	115232134	missense	probably benign	0.06
R3709:Osbpl10	UTSW	9	115207587	missense	probably benign	0.11
R3710:Osbpl10	UTSW	9	115207587	missense	probably benign	0.11
R4406:Osbpl10	UTSW	9	115109481	missense	probably damaging	0.96
R4738:Osbpl10	UTSW	9	115216574	missense	probably damaging	1.00
R4778:Osbpl10	UTSW	9	115109530	missense	probably damaging	1.00
R4779:Osbpl10	UTSW	9	115109530	missense	probably damaging	1.00
R5828:Osbpl10	UTSW	9	115061876	missense	probably damaging	0.97
R5874:Osbpl10	UTSW	9	115226760	missense	probably damaging	1.00
R6052:Osbpl10	UTSW	9	115067315	splice site	probably null
R6103:Osbpl10	UTSW	9	115061872	nonsense	probably null
R6174:Osbpl10	UTSW	9	115109487	missense	probably benign	0.00
R6246:Osbpl10	UTSW	9	115226774	missense	probably benign	0.34
R7008:Osbpl10	UTSW	9	115061848	missense	probably damaging	1.00
R7027:Osbpl10	UTSW	9	115223698	missense	probably damaging	0.97
R7182:Osbpl10	UTSW	9	115067251	missense	probably damaging	1.00
R7285:Osbpl10	UTSW	9	115223703	missense	probably damaging	1.00
R7556:Osbpl10	UTSW	9	115207624	missense	probably damaging	1.00
R7810:Osbpl10	UTSW	9	115061894	missense	probably benign	0.01
R7853:Osbpl10	UTSW	9	115207658	missense	probably damaging	1.00
R7905:Osbpl10	UTSW	9	115062010	critical splice donor site	probably null
R8100:Osbpl10	UTSW	9	115167254	missense	probably benign
R8376:Osbpl10	UTSW	9	115223593	missense	probably damaging	1.00
R8515:Osbpl10	UTSW	9	115176068	missense	probably benign	0.00
R8537:Osbpl10	UTSW	9	115229909	missense	probably benign	0.13
R8706:Osbpl10	UTSW	9	115207620	missense	probably damaging	1.00
R9021:Osbpl10	UTSW	9	114978871	missense	unknown
R9022:Osbpl10	UTSW	9	114978871	missense	unknown
R9071:Osbpl10	UTSW	9	115061840	missense	probably benign	0.00
R9192:Osbpl10	UTSW	9	115167226	missense	probably damaging	1.00
R9198:Osbpl10	UTSW	9	115232143	nonsense	probably null
R9729:Osbpl10	UTSW	9	115223736	missense	probably damaging	0.97
R9771:Osbpl10	UTSW	9	115067288	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCTAACGCCCTCTTCAGGTCAGTG -3'
(R):5'- TGTGATGAGGACAACTGGACCAGC -3'

Sequencing Primer
(F):5'- GCCTCTGTCCAGCTCCAAAG -3'
(R):5'- AGGAGTCCAGCACTCACCT -3'

Posted On

2013-06-12