Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01338:Osbpl8'

74708

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Osbpl8

Ensembl Gene

ENSMUSG00000020189

Gene Name

oxysterol binding protein-like 8

Synonyms

D330025H14Rik, ORP-8

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

IGL01338

Quality Score

Status

Chromosome

Chromosomal Location

111164752-111297249 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111267747 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 204 (K204R)

Ref Sequence

ENSEMBL: ENSMUSP00000100911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095310] [ENSMUST00000105275]

Predicted Effect

probably damaging
Transcript: ENSMUST00000095310
AA Change: K162R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
AA Change: K162R

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC
coiled coil region	71	102	N/A	INTRINSIC
PH	107	225	3.65e-16	SMART
Pfam:Oxysterol_BP	364	715	6.4e-91	PFAM
coiled coil region	789	811	N/A	INTRINSIC
transmembrane domain	829	846	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105275
AA Change: K204R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
AA Change: K204R

Domain	Start	End	E-Value	Type
low complexity region	85	101	N/A	INTRINSIC
coiled coil region	113	144	N/A	INTRINSIC
PH	149	267	3.65e-16	SMART
Pfam:Oxysterol_BP	406	752	4.6e-91	PFAM
coiled coil region	831	853	N/A	INTRINSIC
transmembrane domain	871	888	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220139

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit elevated of HDL and gender-specific alterations in lipid metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	T	C	16: 90,926,048	N266S	possibly damaging	Het
Adam23	A	G	1: 63,551,855	T494A	possibly damaging	Het
Adamts16	C	T	13: 70,836,115	C143Y	probably damaging	Het
Cacna1i	A	G	15: 80,348,380	I195V	probably damaging	Het
Casp7	T	C	19: 56,404,464	S17P	probably benign	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpvl	T	A	6: 53,974,655	S48C	possibly damaging	Het
Cyp2b19	G	T	7: 26,759,417	M138I	probably benign	Het
Dennd5a	T	C	7: 109,919,404	Y510C	possibly damaging	Het
Derl2	A	G	11: 71,010,355	F229S	possibly damaging	Het
Dlec1	A	G	9: 119,120,911	E452G	probably damaging	Het
Dsc2	T	C	18: 20,047,157	K180E	probably benign	Het
Dus1l	G	A	11: 120,793,092	R177C	possibly damaging	Het
Egfr	A	G	11: 16,863,020	I167V	probably damaging	Het
Fam219b	A	T	9: 57,538,022		probably null	Het
Fn1	T	C	1: 71,626,210	E916G	probably damaging	Het
Gm2058	C	T	7: 39,589,156		noncoding transcript	Het
Gpd1	T	A	15: 99,718,175	V22E	probably damaging	Het
Hsf2	T	C	10: 57,501,379	F124L	probably damaging	Het
I0C0044D17Rik	A	G	4: 98,820,099		probably benign	Het
Igfbp3	A	T	11: 7,208,478	F262I	possibly damaging	Het
Klhl18	A	G	9: 110,455,433	Y62H	probably damaging	Het
Lama2	C	T	10: 27,188,272	E1238K	probably benign	Het
Man1b1	A	G	2: 25,338,227	K170E	probably benign	Het
Mcrs1	A	T	15: 99,249,501	I39N	probably damaging	Het
Mug2	T	C	6: 122,049,628		probably benign	Het
Neu3	C	A	7: 99,813,422	G365W	probably damaging	Het
Nipal3	A	C	4: 135,471,883		probably null	Het
Nrxn3	A	G	12: 89,255,034	I528V	possibly damaging	Het
Olfr122	A	T	17: 37,771,839	H71L	possibly damaging	Het
Pax8	A	G	2: 24,435,919	S318P	possibly damaging	Het
Pcdh18	T	A	3: 49,756,141	N242Y	probably damaging	Het
Pkd1l2	T	A	8: 117,059,520	K649*	probably null	Het
Ppm1n	A	T	7: 19,279,254	D257E	probably benign	Het
Pxdn	A	G	12: 30,002,797	E811G	probably damaging	Het
Relb	T	C	7: 19,616,373	I218V	probably benign	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rtkn2	G	T	10: 68,025,519	C258F	possibly damaging	Het
Scn11a	G	A	9: 119,784,161		probably benign	Het
Snx8	G	A	5: 140,358,096	R96C	probably damaging	Het
Syne2	A	T	12: 76,060,226	T5649S	possibly damaging	Het
Tm2d3	T	A	7: 65,695,222	C82*	probably null	Het
Tnpo2	T	C	8: 85,040,526	L55P	probably damaging	Het
Tsc22d2	T	C	3: 58,417,415		probably benign	Het
Ttll3	T	G	6: 113,394,729	V19G	probably damaging	Het
Ube2r2	A	G	4: 41,174,119	I86V	probably benign	Het
Vps13d	G	A	4: 145,088,322	T3153I	probably damaging	Het
Wwp1	A	G	4: 19,627,636	I753T	probably damaging	Het

Other mutations in Osbpl8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Osbpl8	APN	10	111273044	missense	probably benign	0.30
IGL00826:Osbpl8	APN	10	111272320	splice site	probably benign
IGL00839:Osbpl8	APN	10	111291510	missense	probably benign	0.01
IGL01148:Osbpl8	APN	10	111276563	splice site	probably benign
IGL01927:Osbpl8	APN	10	111270616	missense	probably benign	0.00
IGL02378:Osbpl8	APN	10	111282145	missense	possibly damaging	0.94
IGL02863:Osbpl8	APN	10	111284425	splice site	probably benign
IGL02933:Osbpl8	APN	10	111282130	missense	probably damaging	1.00
IGL03075:Osbpl8	APN	10	111291556	missense	probably benign	0.01
R0388:Osbpl8	UTSW	10	111272282	missense	probably benign
R0725:Osbpl8	UTSW	10	111286240	missense	possibly damaging	0.64
R1353:Osbpl8	UTSW	10	111276479	missense	probably damaging	0.97
R1434:Osbpl8	UTSW	10	111291581	missense	probably benign	0.01
R1803:Osbpl8	UTSW	10	111275049	missense	probably damaging	1.00
R1939:Osbpl8	UTSW	10	111289811	missense	probably benign	0.19
R2847:Osbpl8	UTSW	10	111269436	missense	probably benign	0.27
R2848:Osbpl8	UTSW	10	111269436	missense	probably benign	0.27
R2849:Osbpl8	UTSW	10	111269436	missense	probably benign	0.27
R2879:Osbpl8	UTSW	10	111269436	missense	probably benign	0.27
R2935:Osbpl8	UTSW	10	111269436	missense	probably benign	0.27
R3693:Osbpl8	UTSW	10	111269436	missense	probably benign	0.27
R4088:Osbpl8	UTSW	10	111289790	missense	possibly damaging	0.52
R4374:Osbpl8	UTSW	10	111269419	missense	possibly damaging	0.93
R4376:Osbpl8	UTSW	10	111269419	missense	possibly damaging	0.93
R4377:Osbpl8	UTSW	10	111269419	missense	possibly damaging	0.93
R4621:Osbpl8	UTSW	10	111269418	missense	probably benign	0.01
R4622:Osbpl8	UTSW	10	111291496	missense	probably benign	0.00
R4851:Osbpl8	UTSW	10	111204800	start codon destroyed	probably null	0.00
R5134:Osbpl8	UTSW	10	111288693	missense	probably benign	0.28
R5179:Osbpl8	UTSW	10	111272164	missense	probably benign	0.01
R5309:Osbpl8	UTSW	10	111270557	missense	probably benign	0.00
R5590:Osbpl8	UTSW	10	111272168	missense	probably damaging	0.98
R5783:Osbpl8	UTSW	10	111267783	nonsense	probably null
R6293:Osbpl8	UTSW	10	111272238	missense	possibly damaging	0.96
R6362:Osbpl8	UTSW	10	111273068	nonsense	probably null
R6527:Osbpl8	UTSW	10	111293205	missense	probably benign	0.23
R6751:Osbpl8	UTSW	10	111275013	missense	possibly damaging	0.67
R6851:Osbpl8	UTSW	10	111270618	nonsense	probably null
R6955:Osbpl8	UTSW	10	111269444	critical splice donor site	probably null
R7224:Osbpl8	UTSW	10	111275011	missense	possibly damaging	0.94
R7235:Osbpl8	UTSW	10	111269427	missense	probably benign
R7685:Osbpl8	UTSW	10	111276509	nonsense	probably null
R7988:Osbpl8	UTSW	10	111272080	missense	possibly damaging	0.67
R8055:Osbpl8	UTSW	10	111284394	missense	possibly damaging	0.68
R8458:Osbpl8	UTSW	10	111277316	missense	possibly damaging	0.81
R8777:Osbpl8	UTSW	10	111293113	missense	probably benign	0.01
R8777-TAIL:Osbpl8	UTSW	10	111293113	missense	probably benign	0.01
RF007:Osbpl8	UTSW	10	111276467	missense	possibly damaging	0.94

Posted On

2013-10-07