Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02023:Osbpl10'

184037

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Osbpl10

Ensembl Gene

ENSMUSG00000040875

Gene Name

oxysterol binding protein-like 10

Synonyms

C820004B04Rik, OPR-10, 4933433D06Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02023

Quality Score

Status

Chromosome

Chromosomal Location

114978569-115232225 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115226722 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 654 (V654D)

Ref Sequence

ENSEMBL: ENSMUSP00000138287 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000046627
AA Change: V479D

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

SMART Domains

Protein: ENSMUSP00000038013
Gene: ENSMUSG00000040875
AA Change: V479D

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 damaging
Transcript: ENSMUST00000182384
AA Change: V515D

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

SMART Domains

Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
AA Change: V515D

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 damaging
Transcript: ENSMUST00000183104
AA Change: V654D

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

SMART Domains

Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: V654D

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

Coding Region Coverage

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. 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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,063,116	K833E	probably benign	Het
Adam29	T	C	8: 55,872,484	I312V	probably benign	Het
Adcy8	T	A	15: 64,822,220	I403F	probably damaging	Het
Ahcyl1	A	T	3: 107,667,694	N444K	probably damaging	Het
Ang4	T	C	14: 51,764,054		probably benign	Het
Atf6b	T	C	17: 34,651,867	V401A	possibly damaging	Het
Atp7a	A	T	X: 106,094,982	I604F	probably damaging	Het
Cd151	T	C	7: 141,470,457	Y202H	probably damaging	Het
Cd99l2	A	T	X: 71,449,946	N64K	possibly damaging	Het
Cog7	C	T	7: 121,943,777		probably null	Het
Ddx58	A	G	4: 40,216,487	Y504H	possibly damaging	Het
Decr2	A	T	17: 26,087,380	M94K	probably benign	Het
Dock11	A	T	X: 35,968,769	H188L	probably benign	Het
Dscam	T	C	16: 96,801,197	S682G	probably benign	Het
Fam126b	G	A	1: 58,530,115	A435V	possibly damaging	Het
Gja3	G	T	14: 57,035,679	P412Q	probably damaging	Het
Glrb	T	C	3: 80,850,955	N333D	probably benign	Het
Gm11639	A	T	11: 104,721,432		probably benign	Het
Gpr65	T	A	12: 98,275,868	V260D	probably benign	Het
Hormad1	A	G	3: 95,578,293	E264G	possibly damaging	Het
Hsph1	T	C	5: 149,633,859	R46G	probably damaging	Het
Iars	A	G	13: 49,688,249	Y71C	probably damaging	Het
Lsg1	T	C	16: 30,585,676	H35R	probably damaging	Het
Mfge8	C	T	7: 79,145,237		probably benign	Het
Mgat4c	T	A	10: 102,378,184	Y9*	probably null	Het
Mpdz	A	T	4: 81,329,529	I1074N	probably damaging	Het
Muc19	T	C	15: 91,888,259		noncoding transcript	Het
Nbea	A	T	3: 55,681,016	M2434K	probably damaging	Het
Ncoa2	A	G	1: 13,174,854	L540P	probably damaging	Het
Nhsl2	A	G	X: 102,078,252	R554G	probably damaging	Het
Npdc1	T	A	2: 25,408,020		probably benign	Het
Olfr171	A	T	16: 19,624,408	S231T	probably benign	Het
Plxna1	C	A	6: 89,357,332	G105V	possibly damaging	Het
Pnmal2	T	C	7: 16,945,691	V200A	probably damaging	Het
Ppard	A	G	17: 28,298,897	H313R	probably benign	Het
Rasgrp4	T	C	7: 29,138,910	L103P	probably damaging	Het
Ripk4	A	T	16: 97,755,231	L104Q	probably damaging	Het
Setd2	T	C	9: 110,594,636	V2253A	probably benign	Het
Setdb2	A	G	14: 59,431,158	S43P	probably damaging	Het
Stab2	C	A	10: 86,871,831	G1742V	possibly damaging	Het
Timm23	A	G	14: 32,193,847		probably benign	Het
Ttn	T	C	2: 76,785,655	N14902S	possibly damaging	Het
Ush2a	A	G	1: 188,733,514	T2760A	probably benign	Het
Vmn2r25	T	C	6: 123,839,429	N398D	probably 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
IGL02096:Osbpl10	APN	9	115216994	missense	possibly damaging	0.94
R0534:Osbpl10	UTSW	9	115167178	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

Posted On

2014-05-07