Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01784:Osbpl3'

154243

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Osbpl3

Ensembl Gene

ENSMUSG00000029822

Gene Name

oxysterol binding protein-like 3

Synonyms

6720421I08Rik, OSBP3, ORP3, 1200014M06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01784

Quality Score

Status

Chromosome

Chromosomal Location

50293330-50456201 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50344922 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 75 (S75P)

Ref Sequence

ENSEMBL: ENSMUSP00000145249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071728] [ENSMUST00000090019] [ENSMUST00000114466] [ENSMUST00000114468] [ENSMUST00000146341] [ENSMUST00000203907]

AlphaFold

Q9DBS9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071728
AA Change: S295P

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071643
Gene: ENSMUSG00000029822
AA Change: S295P

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
PH	51	147	9.56e-11	SMART
low complexity region	177	191	N/A	INTRINSIC
Blast:PH	254	311	4e-25	BLAST
low complexity region	392	425	N/A	INTRINSIC
Pfam:Oxysterol_BP	459	804	3.2e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090019
AA Change: S326P

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

SMART Domains

Protein: ENSMUSP00000087473
Gene: ENSMUSG00000029822
AA Change: S326P

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
PH	51	147	9.56e-11	SMART
low complexity region	177	191	N/A	INTRINSIC
Blast:PH	288	342	4e-25	BLAST
low complexity region	459	492	N/A	INTRINSIC
Pfam:Oxysterol_BP	526	870	3e-136	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114466
AA Change: S326P

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110110
Gene: ENSMUSG00000029822
AA Change: S326P

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
PH	51	147	9.56e-11	SMART
low complexity region	177	191	N/A	INTRINSIC
Blast:PH	288	342	3e-25	BLAST
low complexity region	423	456	N/A	INTRINSIC
Pfam:Oxysterol_BP	490	835	3.5e-139	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114468
AA Change: S295P

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110112
Gene: ENSMUSG00000029822
AA Change: S295P

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
PH	51	147	9.56e-11	SMART
low complexity region	177	191	N/A	INTRINSIC
Blast:PH	254	311	4e-25	BLAST
low complexity region	428	461	N/A	INTRINSIC
Pfam:Oxysterol_BP	495	840	1.3e-138	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133141

Predicted Effect

probably benign
Transcript: ENSMUST00000146341

SMART Domains

Protein: ENSMUSP00000114472
Gene: ENSMUSG00000029822

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
PH	51	144	1.27e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203907
AA Change: S75P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145249
Gene: ENSMUSG00000029822
AA Change: S75P

Domain	Start	End	E-Value	Type
Blast:PH	1	91	1e-57	BLAST
low complexity region	208	241	N/A	INTRINSIC

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. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,880,619	P309L	possibly damaging	Het
Abca4	A	T	3: 122,138,505	K269N	probably benign	Het
Abcb5	T	C	12: 118,890,664	T839A	probably benign	Het
Adcy7	A	G	8: 88,314,123	D30G	probably damaging	Het
Aldh3b1	A	G	19: 3,921,217	I149T	probably benign	Het
Ap3b1	A	G	13: 94,493,739	D199G	probably damaging	Het
Ddo	A	G	10: 40,631,788		probably benign	Het
Ensa	T	A	3: 95,628,533		probably benign	Het
Etnppl	A	G	3: 130,631,778	I405V	possibly damaging	Het
Fam129a	T	A	1: 151,649,365	Y174N	probably damaging	Het
Fam171b	T	A	2: 83,879,687	L568M	possibly damaging	Het
Fmn2	A	G	1: 174,502,428	D128G	unknown	Het
Fra10ac1	T	A	19: 38,219,677	H43L	probably benign	Het
Gm10436	A	G	12: 88,176,315	Y178H	probably benign	Het
Gm7589	T	C	9: 59,146,027		noncoding transcript	Het
Gsx1	A	G	5: 147,190,129	D254G	probably benign	Het
Hoxb6	A	G	11: 96,300,813	E187G	probably damaging	Het
Kmt2c	A	T	5: 25,313,526	I2385N	probably damaging	Het
Lman1l	T	C	9: 57,620,564	Y36C	probably damaging	Het
Mc3r	T	A	2: 172,249,370	C171S	probably benign	Het
Mccc1	T	G	3: 35,976,748	N390H	probably damaging	Het
Mphosph9	T	C	5: 124,265,310		probably benign	Het
Nfic	T	C	10: 81,406,148	D364G	possibly damaging	Het
Npy	A	G	6: 49,829,334		probably benign	Het
Olfr767	C	T	10: 129,079,355	V203M	probably benign	Het
Plekhg4	G	T	8: 105,378,957	A685S	probably damaging	Het
Prss53	T	C	7: 127,886,552	T539A	probably benign	Het
Rnf43	T	A	11: 87,731,806	S537T	possibly damaging	Het
Rpgrip1l	G	A	8: 91,270,461	T597I	possibly damaging	Het
Rtn4	C	A	11: 29,707,291	Q482K	probably damaging	Het
Sema3g	T	C	14: 31,222,967	I349T	probably damaging	Het
Sh3gl1	A	C	17: 56,019,325	S108A	possibly damaging	Het
Tmc7	A	T	7: 118,547,315		probably null	Het
Tmem131	G	A	1: 36,815,483	T131I	probably damaging	Het
Vac14	T	C	8: 110,671,168	L505P	probably benign	Het
Wasf2	A	G	4: 133,192,128	Q231R	unknown	Het
Wnt7a	A	G	6: 91,365,857	C348R	probably damaging	Het
Zkscan6	T	A	11: 65,814,721	L86Q	probably damaging	Het

Other mutations in Osbpl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Osbpl3	APN	6	50323068	missense	probably damaging	1.00
IGL02221:Osbpl3	APN	6	50327367	unclassified	probably benign
IGL02323:Osbpl3	APN	6	50346326	critical splice donor site	probably null
IGL02894:Osbpl3	APN	6	50346332	missense	possibly damaging	0.89
H8562:Osbpl3	UTSW	6	50347466	missense	probably benign	0.09
PIT4283001:Osbpl3	UTSW	6	50346088	missense	probably benign	0.01
R0226:Osbpl3	UTSW	6	50353008	missense	probably damaging	1.00
R0416:Osbpl3	UTSW	6	50348018	missense	probably benign
R0417:Osbpl3	UTSW	6	50348018	missense	probably benign
R0601:Osbpl3	UTSW	6	50299403	missense	probably benign	0.05
R0826:Osbpl3	UTSW	6	50346377	missense	probably damaging	1.00
R1390:Osbpl3	UTSW	6	50308427	missense	probably damaging	1.00
R1520:Osbpl3	UTSW	6	50346431	missense	possibly damaging	0.75
R1603:Osbpl3	UTSW	6	50323093	missense	probably damaging	1.00
R1678:Osbpl3	UTSW	6	50336213	critical splice donor site	probably null
R1843:Osbpl3	UTSW	6	50370143	missense	probably damaging	1.00
R1943:Osbpl3	UTSW	6	50320074	missense	probably benign	0.16
R3435:Osbpl3	UTSW	6	50348070	missense	possibly damaging	0.94
R3768:Osbpl3	UTSW	6	50348002	missense	possibly damaging	0.64
R4746:Osbpl3	UTSW	6	50328674	missense	probably damaging	0.99
R4751:Osbpl3	UTSW	6	50300997	missense	possibly damaging	0.95
R4776:Osbpl3	UTSW	6	50300973	missense	probably benign	0.01
R4814:Osbpl3	UTSW	6	50353000	missense	probably damaging	1.00
R4841:Osbpl3	UTSW	6	50309376	missense	probably damaging	1.00
R4881:Osbpl3	UTSW	6	50352784	missense	possibly damaging	0.95
R4999:Osbpl3	UTSW	6	50336297	missense	probably damaging	0.99
R5512:Osbpl3	UTSW	6	50309360	missense	probably damaging	0.98
R6282:Osbpl3	UTSW	6	50348083	splice site	probably null
R6304:Osbpl3	UTSW	6	50312674	missense	probably damaging	1.00
R6905:Osbpl3	UTSW	6	50351882	missense	probably damaging	1.00
R7000:Osbpl3	UTSW	6	50297157	missense	probably damaging	1.00
R7102:Osbpl3	UTSW	6	50320135	missense	probably damaging	1.00
R7275:Osbpl3	UTSW	6	50346430	missense	probably benign	0.02
R7334:Osbpl3	UTSW	6	50344906	missense	possibly damaging	0.78
R7368:Osbpl3	UTSW	6	50348098	missense	probably damaging	1.00
R8052:Osbpl3	UTSW	6	50346015	missense	probably damaging	1.00
R8183:Osbpl3	UTSW	6	50303109	missense	probably benign	0.00
R8810:Osbpl3	UTSW	6	50351872	missense	probably damaging	1.00
R8932:Osbpl3	UTSW	6	50327391	missense	probably benign	0.37
R9168:Osbpl3	UTSW	6	50352782	critical splice donor site	probably null
R9447:Osbpl3	UTSW	6	50344877	nonsense	probably null
R9476:Osbpl3	UTSW	6	50336214	critical splice donor site	probably null
R9510:Osbpl3	UTSW	6	50336214	critical splice donor site	probably null
R9788:Osbpl3	UTSW	6	50347364	critical splice donor site	probably null
RF011:Osbpl3	UTSW	6	50348138	critical splice acceptor site	probably benign
Z1088:Osbpl3	UTSW	6	50297097	missense	probably damaging	0.98

Posted On

2014-02-04