Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Osbpl8'

651608

Institutional Source

Beutler Lab

Gene Symbol

Osbpl8

Ensembl Gene

ENSMUSG00000020189

Gene Name

oxysterol binding protein-like 8

Synonyms

D330025H14Rik, ORP-8

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111164752-111297249 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 111272080 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 312 (N312K)

Ref Sequence

ENSEMBL: ENSMUSP00000100911 (fasta)

Gene Model

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

AlphaFold

B9EJ86

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095310
AA Change: N270K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
AA Change: N270K

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

possibly damaging
Transcript: ENSMUST00000105275
AA Change: N312K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
AA Change: N312K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly 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
IGL01338:Osbpl8	APN	10	111267747	missense	probably damaging	0.99
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
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
R8844:Osbpl8	UTSW	10	111276475	missense	probably damaging	1.00
R8948:Osbpl8	UTSW	10	111267669	missense	probably damaging	0.97
R8954:Osbpl8	UTSW	10	111272192	missense	probably benign	0.02
R8997:Osbpl8	UTSW	10	111255714	missense	probably benign	0.01
R9236:Osbpl8	UTSW	10	111270635	missense	probably benign	0.01
R9249:Osbpl8	UTSW	10	111286151	missense	probably benign	0.02
R9380:Osbpl8	UTSW	10	111273119	missense	probably damaging	0.99
R9394:Osbpl8	UTSW	10	111291514	nonsense	probably null
R9595:Osbpl8	UTSW	10	111273048	missense	probably damaging	0.99
RF007:Osbpl8	UTSW	10	111276467	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGTCCACTGCTCTGTAAGGG -3'
(R):5'- TGCTCCATGTAGGTGGTCTC -3'

Sequencing Primer
(F):5'- TCCACTGCTCTGTAAGGGAAGTC -3'
(R):5'- TTTAAGGGCTCCACAGGCTCAG -3'

Posted On

2020-09-15