Mutagenetix > Incidental Mutation

Incidental Mutation 'R6246:Osbpl10'

505792

Institutional Source

Beutler Lab

Gene Symbol

Osbpl10

Ensembl Gene

ENSMUSG00000040875

Gene Name

oxysterol binding protein-like 10

Synonyms

OPR-10, C820004B04Rik, 4933433D06Rik

MMRRC Submission

044436-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114807637-115061293 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115055842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 532 (N532K)

Ref Sequence

ENSEMBL: ENSMUSP00000138552 (fasta)

Gene Model

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

AlphaFold

S4R1M9

Predicted Effect

probably benign
Transcript: ENSMUST00000046627
AA Change: N496K

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038013
Gene: ENSMUSG00000040875
AA Change: N496K

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

probably benign
Transcript: ENSMUST00000182384
AA Change: N532K

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
AA Change: N532K

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

probably benign
Transcript: ENSMUST00000183104
AA Change: N671K

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: N671K

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (78/78)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,850,999 (GRCm39)	V2110E	probably damaging	Het
Acaca	C	A	11: 84,206,796 (GRCm39)	T1552K	probably benign	Het
Aknad1	A	G	3: 108,659,148 (GRCm39)	D54G	probably damaging	Het
Ano1	T	C	7: 144,187,462 (GRCm39)	T435A	possibly damaging	Het
Azgp1	A	G	5: 137,983,475 (GRCm39)	D50G	possibly damaging	Het
Bbx	A	G	16: 50,045,023 (GRCm39)	S513P	probably benign	Het
Ccdc85a	C	T	11: 28,526,897 (GRCm39)	S209N	probably damaging	Het
Cdca2	T	A	14: 67,915,277 (GRCm39)	R661*	probably null	Het
Cdhr2	T	C	13: 54,867,523 (GRCm39)	V451A	probably damaging	Het
Cenpt	C	T	8: 106,575,891 (GRCm39)	G152S	possibly damaging	Het
Chd9	A	G	8: 91,659,045 (GRCm39)	T2A	probably damaging	Het
Chst14	G	A	2: 118,757,482 (GRCm39)	C117Y	probably damaging	Het
Cic	C	T	7: 24,971,067 (GRCm39)	T266M	probably damaging	Het
Clec12a	A	T	6: 129,330,733 (GRCm39)	N105I	possibly damaging	Het
Cmah	G	A	13: 24,650,773 (GRCm39)	V525M	probably damaging	Het
Cplane1	T	A	15: 8,239,498 (GRCm39)	L1233H	probably damaging	Het
Cpt1a	T	C	19: 3,426,550 (GRCm39)	L572P	probably damaging	Het
Crybg2	T	C	4: 133,816,657 (GRCm39)	L1365P	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlg1	G	A	16: 31,484,468 (GRCm39)	S32N	probably benign	Het
Dnah14	T	C	1: 181,508,453 (GRCm39)	I1877T	probably benign	Het
Duox1	G	T	2: 122,157,655 (GRCm39)	G594C	probably damaging	Het
Eci2	T	C	13: 35,174,181 (GRCm39)	N127D	probably damaging	Het
Ecpas	A	G	4: 58,811,365 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,945,870 (GRCm39)	S1588P	probably damaging	Het
Fer1l4	T	A	2: 155,866,902 (GRCm39)	I1489F	probably damaging	Het
Flrt3	A	G	2: 140,501,721 (GRCm39)	Y636H	probably damaging	Het
Frmd5	T	A	2: 121,381,529 (GRCm39)	H62L	possibly damaging	Het
Gm6309	A	T	5: 146,107,050 (GRCm39)	Y99N	probably damaging	Het
Gm8225	T	C	17: 26,762,652 (GRCm39)	V281A	probably benign	Het
Grep1	C	A	17: 23,929,465 (GRCm39)	G315*	probably null	Het
Grsf1	A	G	5: 88,810,451 (GRCm39)	L353P	possibly damaging	Het
Gtf2a1l	A	G	17: 88,978,975 (GRCm39)	R58G	probably benign	Het
Guf1	G	A	5: 69,715,898 (GRCm39)	G113R	probably damaging	Het
Hfe	A	T	13: 23,892,212 (GRCm39)	F51I	probably damaging	Het
Hibch	T	C	1: 52,943,801 (GRCm39)	S250P	probably damaging	Het
Il1rap	T	A	16: 26,533,631 (GRCm39)	M509K	probably benign	Het
Il4ra	T	C	7: 125,175,577 (GRCm39)	V595A	probably benign	Het
Ints11	A	G	4: 155,972,546 (GRCm39)	T460A	probably benign	Het
Itprid1	A	T	6: 55,944,657 (GRCm39)	K459N	probably damaging	Het
Kdm5a	G	A	6: 120,408,871 (GRCm39)	G1518E	probably damaging	Het
Khsrp	T	C	17: 57,332,324 (GRCm39)	D289G	possibly damaging	Het
Kif14	C	T	1: 136,404,162 (GRCm39)	Q29*	probably null	Het
Krt72	T	C	15: 101,689,372 (GRCm39)	K320R	probably damaging	Het
Lcmt2	A	G	2: 120,970,870 (GRCm39)	L71P	probably damaging	Het
Lmo7	A	T	14: 102,156,136 (GRCm39)	D1037V	probably damaging	Het
Lpo	T	C	11: 87,713,058 (GRCm39)	T15A	unknown	Het
Mia3	G	T	1: 183,126,720 (GRCm39)	T7N	probably damaging	Het
Muc16	A	T	9: 18,488,363 (GRCm39)		probably null	Het
Mup9	T	A	4: 60,375,809 (GRCm39)	Y29F	probably damaging	Het
Nisch	T	C	14: 30,894,516 (GRCm39)	D1105G	probably damaging	Het
Odad1	A	G	7: 45,585,788 (GRCm39)	I116V	probably damaging	Het
Oip5	T	C	2: 119,446,101 (GRCm39)	T136A	probably benign	Het
Or2a52	G	A	6: 43,144,436 (GRCm39)		probably null	Het
P2ry12	C	T	3: 59,124,950 (GRCm39)	V242I	probably benign	Het
Pdhx	A	T	2: 102,877,137 (GRCm39)	C26S	probably damaging	Het
Pgk2	A	T	17: 40,518,315 (GRCm39)	I371K	probably damaging	Het
Phyhip	T	C	14: 70,704,495 (GRCm39)	V238A	probably damaging	Het
Pla2g4a	G	A	1: 149,748,338 (GRCm39)	T282I	probably damaging	Het
Pld5	A	T	1: 175,791,475 (GRCm39)	C448*	probably null	Het
Plk1	T	A	7: 121,768,659 (GRCm39)	I553N	probably damaging	Het
Ppp1r13l	T	A	7: 19,103,783 (GRCm39)	I88K	probably benign	Het
Rad54l2	A	G	9: 106,577,692 (GRCm39)		probably null	Het
Septin7	A	G	9: 25,218,817 (GRCm39)	E428G	probably benign	Het
Serpina3j	G	A	12: 104,283,706 (GRCm39)	G268D	probably damaging	Het
Smc2	A	T	4: 52,460,289 (GRCm39)	D555V	probably damaging	Het
Spag16	A	T	1: 69,962,980 (GRCm39)	I376F	probably benign	Het
Spag6	G	A	2: 18,703,906 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,289,204 (GRCm39)	I454V	probably benign	Het
Tlcd3b	T	A	7: 126,426,668 (GRCm39)	F30L	probably damaging	Het
Tm9sf1	C	T	14: 55,873,827 (GRCm39)	R557H	probably damaging	Het
Traf5	C	T	1: 191,754,853 (GRCm39)	E28K	probably damaging	Het
Trav23	G	A	14: 54,214,885 (GRCm39)	E33K	probably damaging	Het
Trim32	T	C	4: 65,532,801 (GRCm39)	S453P	probably damaging	Het
Tssk1	A	G	16: 17,713,303 (GRCm39)	T363A	probably benign	Het
Txnrd3	A	G	6: 89,628,523 (GRCm39)	N88S	probably benign	Het
Unc13b	A	G	4: 43,216,246 (GRCm39)	S182G	probably benign	Het
Vmn2r89	A	T	14: 51,693,503 (GRCm39)	R284S	probably damaging	Het
Zbtb14	A	G	17: 69,694,478 (GRCm39)	T59A	possibly damaging	Het
Zcchc2	T	A	1: 105,957,796 (GRCm39)	S756T	possibly damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het

Other mutations in Osbpl10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Osbpl10	APN	9	115,005,070 (GRCm39)	missense	probably benign	0.01
IGL01318:Osbpl10	APN	9	115,061,190 (GRCm39)	nonsense	probably null
IGL02023:Osbpl10	APN	9	115,055,790 (GRCm39)	missense	probably damaging	1.00
IGL02096:Osbpl10	APN	9	115,046,062 (GRCm39)	missense	possibly damaging	0.94
Weeblo	UTSW	9	115,036,688 (GRCm39)	missense	probably damaging	1.00
R0534:Osbpl10	UTSW	9	114,996,246 (GRCm39)	missense	probably damaging	1.00
R0948:Osbpl10	UTSW	9	114,996,187 (GRCm39)	missense	probably damaging	1.00
R1073:Osbpl10	UTSW	9	115,036,621 (GRCm39)	nonsense	probably null
R2138:Osbpl10	UTSW	9	115,061,202 (GRCm39)	missense	probably benign	0.06
R3709:Osbpl10	UTSW	9	115,036,655 (GRCm39)	missense	probably benign	0.11
R3710:Osbpl10	UTSW	9	115,036,655 (GRCm39)	missense	probably benign	0.11
R4406:Osbpl10	UTSW	9	114,938,549 (GRCm39)	missense	probably damaging	0.96
R4738:Osbpl10	UTSW	9	115,045,642 (GRCm39)	missense	probably damaging	1.00
R4778:Osbpl10	UTSW	9	114,938,598 (GRCm39)	missense	probably damaging	1.00
R4779:Osbpl10	UTSW	9	114,938,598 (GRCm39)	missense	probably damaging	1.00
R5828:Osbpl10	UTSW	9	114,890,944 (GRCm39)	missense	probably damaging	0.97
R5874:Osbpl10	UTSW	9	115,055,828 (GRCm39)	missense	probably damaging	1.00
R6052:Osbpl10	UTSW	9	114,896,383 (GRCm39)	splice site	probably null
R6103:Osbpl10	UTSW	9	114,890,940 (GRCm39)	nonsense	probably null
R6174:Osbpl10	UTSW	9	114,938,555 (GRCm39)	missense	probably benign	0.00
R7008:Osbpl10	UTSW	9	114,890,916 (GRCm39)	missense	probably damaging	1.00
R7027:Osbpl10	UTSW	9	115,052,766 (GRCm39)	missense	probably damaging	0.97
R7182:Osbpl10	UTSW	9	114,896,319 (GRCm39)	missense	probably damaging	1.00
R7285:Osbpl10	UTSW	9	115,052,771 (GRCm39)	missense	probably damaging	1.00
R7556:Osbpl10	UTSW	9	115,036,692 (GRCm39)	missense	probably damaging	1.00
R7810:Osbpl10	UTSW	9	114,890,962 (GRCm39)	missense	probably benign	0.01
R7853:Osbpl10	UTSW	9	115,036,726 (GRCm39)	missense	probably damaging	1.00
R7905:Osbpl10	UTSW	9	114,891,078 (GRCm39)	critical splice donor site	probably null
R8100:Osbpl10	UTSW	9	114,996,322 (GRCm39)	missense	probably benign
R8376:Osbpl10	UTSW	9	115,052,661 (GRCm39)	missense	probably damaging	1.00
R8515:Osbpl10	UTSW	9	115,005,136 (GRCm39)	missense	probably benign	0.00
R8537:Osbpl10	UTSW	9	115,058,977 (GRCm39)	missense	probably benign	0.13
R8706:Osbpl10	UTSW	9	115,036,688 (GRCm39)	missense	probably damaging	1.00
R9021:Osbpl10	UTSW	9	114,807,939 (GRCm39)	missense	unknown
R9022:Osbpl10	UTSW	9	114,807,939 (GRCm39)	missense	unknown
R9071:Osbpl10	UTSW	9	114,890,908 (GRCm39)	missense	probably benign	0.00
R9192:Osbpl10	UTSW	9	114,996,294 (GRCm39)	missense	probably damaging	1.00
R9198:Osbpl10	UTSW	9	115,061,211 (GRCm39)	nonsense	probably null
R9729:Osbpl10	UTSW	9	115,052,804 (GRCm39)	missense	probably damaging	0.97
R9771:Osbpl10	UTSW	9	114,896,356 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAATCTTTGGGCCAGACTGC -3'
(R):5'- CCTAATGGACGAGGGGTGTTTC -3'

Sequencing Primer
(F):5'- TTTGGGCCAGACTGCAAACC -3'
(R):5'- TTTCAGTGGCTAACGGAAGCAC -3'

Posted On

2018-02-28