Mutagenetix > Incidental Mutation

Incidental Mutation 'R0609:Osbpl5'

54530

Institutional Source

Beutler Lab

Gene Symbol

Osbpl5

Ensembl Gene

ENSMUSG00000037606

Gene Name

oxysterol binding protein-like 5

Synonyms

ORP5, 1110006M06Rik, Obph1

MMRRC Submission

038798-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0609 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

143242499-143310722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143248558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 644 (L644Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020411] [ENSMUST00000119499]

AlphaFold

Q9ER64

Predicted Effect

probably damaging
Transcript: ENSMUST00000020411
AA Change: L668Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: L668Q

Domain	Start	End	E-Value	Type
PH	151	269	1.02e-14	SMART
Pfam:Oxysterol_BP	394	738	2.9e-91	PFAM
transmembrane domain	879	897	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119499
AA Change: L644Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: L644Q

Domain	Start	End	E-Value	Type
coiled coil region	92	122	N/A	INTRINSIC
PH	127	245	1.02e-14	SMART
Pfam:Oxysterol_BP	369	724	1e-93	PFAM
transmembrane domain	855	873	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140502

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

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 that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,533,418 (GRCm39)		probably null	Het
Abcb4	T	A	5: 8,997,376 (GRCm39)	C952S	probably damaging	Het
Adamtsl2	A	G	2: 26,979,647 (GRCm39)	D272G	probably benign	Het
Aim2	G	A	1: 173,289,530 (GRCm39)	D158N	probably damaging	Het
Aldh3b1	C	T	19: 3,964,024 (GRCm39)	R426H	probably damaging	Het
Apoc2	A	G	7: 19,407,278 (GRCm39)	S28P	probably benign	Het
Arfgef3	G	A	10: 18,473,179 (GRCm39)	T1628I	probably benign	Het
Atp10a	G	A	7: 58,469,488 (GRCm39)		probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Bmp8b	T	A	4: 123,015,692 (GRCm39)	D226E	probably benign	Het
Brsk2	T	C	7: 141,552,229 (GRCm39)	Y618H	probably damaging	Het
Casp12	T	A	9: 5,346,554 (GRCm39)	F27Y	probably damaging	Het
Casp8	T	A	1: 58,883,951 (GRCm39)	N439K	probably benign	Het
Ccdc175	T	A	12: 72,204,281 (GRCm39)	K253N	probably benign	Het
Cdc42bpa	A	G	1: 179,867,744 (GRCm39)	H193R	probably damaging	Het
Cdk17	T	C	10: 93,052,334 (GRCm39)	M105T	probably benign	Het
Cdon	C	A	9: 35,389,907 (GRCm39)	P854T	probably damaging	Het
Cep44	A	G	8: 56,997,187 (GRCm39)	M117T	possibly damaging	Het
Cep89	A	T	7: 35,134,955 (GRCm39)	E674D	probably damaging	Het
Cit	C	T	5: 116,012,002 (GRCm39)	A203V	probably damaging	Het
Clstn1	C	A	4: 149,713,757 (GRCm39)		probably null	Het
Col7a1	T	A	9: 108,787,215 (GRCm39)	D565E	unknown	Het
Cpb1	T	A	3: 20,316,638 (GRCm39)	Y304F	probably damaging	Het
Cps1	T	G	1: 67,211,961 (GRCm39)	Y710D	probably damaging	Het
Creb3l1	T	C	2: 91,817,398 (GRCm39)	T372A	possibly damaging	Het
Dars1	A	G	1: 128,333,118 (GRCm39)	V102A	probably benign	Het
Dhx35	C	T	2: 158,659,335 (GRCm39)	T168I	possibly damaging	Het
Dnah5	T	C	15: 28,327,925 (GRCm39)	S2100P	probably benign	Het
Dst	T	C	1: 34,306,041 (GRCm39)		probably null	Het
Egflam	A	C	15: 7,283,004 (GRCm39)	L351R	possibly damaging	Het
Elp2	T	A	18: 24,759,213 (GRCm39)	D523E	probably benign	Het
Exo5	C	A	4: 120,778,881 (GRCm39)	G328V	probably damaging	Het
Fut9	A	G	4: 25,620,811 (GRCm39)	M1T	probably null	Het
Galnt5	A	G	2: 57,914,637 (GRCm39)	N584S	possibly damaging	Het
Gbp3	T	C	3: 142,273,533 (GRCm39)	V360A	probably damaging	Het
Gdf6	G	A	4: 9,859,977 (GRCm39)	C353Y	probably damaging	Het
Hace1	A	G	10: 45,524,965 (GRCm39)	T244A	probably damaging	Het
Hr	T	C	14: 70,797,097 (GRCm39)	I500T	probably benign	Het
Ifnl2	A	T	7: 28,208,707 (GRCm39)	L115Q	probably damaging	Het
Iigp1	T	C	18: 60,522,896 (GRCm39)	F5L	probably benign	Het
Inhbb	A	G	1: 119,345,146 (GRCm39)	L381P	probably damaging	Het
Irx3	A	T	8: 92,527,721 (GRCm39)	S50T	probably benign	Het
Ivns1abp	C	T	1: 151,235,896 (GRCm39)	T363I	probably benign	Het
Izumo1	A	T	7: 45,272,323 (GRCm39)	T35S	probably benign	Het
Kank4	A	G	4: 98,665,342 (GRCm39)	S651P	probably damaging	Het
Kit	T	C	5: 75,771,539 (GRCm39)	V232A	probably benign	Het
Klhl11	T	C	11: 100,354,540 (GRCm39)	Y427C	probably damaging	Het
Laptm4b	T	A	15: 34,258,835 (GRCm39)	N36K	probably damaging	Het
Lrrk1	T	C	7: 65,916,363 (GRCm39)		probably null	Het
Mamdc4	G	T	2: 25,454,205 (GRCm39)	Q1042K	probably benign	Het
Mical2	A	G	7: 111,920,647 (GRCm39)		probably null	Het
Ms4a3	C	A	19: 11,608,725 (GRCm39)	V176F	possibly damaging	Het
Myo3a	T	C	2: 22,338,324 (GRCm39)	V427A	probably benign	Het
Myo3a	A	C	2: 22,401,110 (GRCm39)	E626D	possibly damaging	Het
Nckap5	A	T	1: 125,955,025 (GRCm39)	L509*	probably null	Het
Ndufa5	A	T	6: 24,519,248 (GRCm39)	D64E	possibly damaging	Het
Nedd4l	T	C	18: 65,341,532 (GRCm39)	Y753H	probably damaging	Het
Nynrin	T	C	14: 56,110,218 (GRCm39)	V1775A	probably damaging	Het
Oplah	A	G	15: 76,187,192 (GRCm39)	S570P	probably benign	Het
Or14c39	T	C	7: 86,344,084 (GRCm39)	V140A	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,205 (GRCm39)	H244Q	probably damaging	Het
Or4q3	T	C	14: 50,583,383 (GRCm39)	Y141C	probably damaging	Het
Or5t18	A	G	2: 86,637,205 (GRCm39)	L46S	probably damaging	Het
Or9r3	G	A	10: 129,948,449 (GRCm39)	S70F	probably damaging	Het
Osbpl11	C	A	16: 33,054,814 (GRCm39)	Y632*	probably null	Het
Pcdhb19	T	C	18: 37,631,005 (GRCm39)	W267R	probably benign	Het
Pkhd1l1	A	C	15: 44,330,820 (GRCm39)	S132R	possibly damaging	Het
Pramel23	A	T	4: 143,425,073 (GRCm39)	D123E	probably benign	Het
Ptpn13	T	A	5: 103,704,011 (GRCm39)	S1348T	probably benign	Het
Rc3h1	T	A	1: 160,757,705 (GRCm39)	W8R	probably damaging	Het
Rgs3	T	G	4: 62,544,173 (GRCm39)	V315G	probably damaging	Het
Rora	T	A	9: 69,269,151 (GRCm39)	M82K	probably damaging	Het
Rph3al	T	C	11: 75,799,795 (GRCm39)	I55V	probably benign	Het
Sag	T	C	1: 87,740,713 (GRCm39)	V45A	probably damaging	Het
Scn3a	T	C	2: 65,366,854 (GRCm39)	E56G	probably damaging	Het
Sec24c	T	G	14: 20,737,016 (GRCm39)	V324G	probably damaging	Het
Sptbn1	A	G	11: 30,088,979 (GRCm39)	L748S	probably damaging	Het
Stard9	A	T	2: 120,536,787 (GRCm39)	D4186V	probably damaging	Het
Stk39	T	C	2: 68,196,511 (GRCm39)	E306G	probably damaging	Het
Sycp1	C	A	3: 102,806,165 (GRCm39)		probably null	Het
Taf2	A	C	15: 54,923,446 (GRCm39)	L277R	probably damaging	Het
Tasor	C	T	14: 27,183,707 (GRCm39)	T722I	probably benign	Het
Tbc1d23	T	A	16: 56,993,469 (GRCm39)	I566F	possibly damaging	Het
Tekt5	T	C	16: 10,179,168 (GRCm39)	T400A	possibly damaging	Het
Tgfbrap1	T	C	1: 43,099,301 (GRCm39)	H401R	probably benign	Het
Tie1	T	A	4: 118,333,344 (GRCm39)	I841L	possibly damaging	Het
Tln1	T	G	4: 43,544,645 (GRCm39)	T1095P	possibly damaging	Het
Tmem147	A	G	7: 30,427,527 (GRCm39)	Y72H	probably benign	Het
Tnfaip2	A	G	12: 111,419,941 (GRCm39)	N691S	probably benign	Het
Trim24	G	A	6: 37,934,718 (GRCm39)	C811Y	probably damaging	Het
Trim30b	T	A	7: 104,007,183 (GRCm39)		probably benign	Het
Trpc4	T	G	3: 54,102,189 (GRCm39)	L29R	probably damaging	Het
Trpm6	A	T	19: 18,803,226 (GRCm39)	I890F	probably damaging	Het
Ttc23l	C	T	15: 10,504,622 (GRCm39)	E442K	probably benign	Het
Tut7	A	T	13: 59,947,596 (GRCm39)	C506*	probably null	Het
Uggt2	A	G	14: 119,332,748 (GRCm39)	V62A	probably damaging	Het
Ugt1a6a	C	A	1: 88,066,606 (GRCm39)	S137R	probably benign	Het
Unc13a	A	G	8: 72,111,111 (GRCm39)	Y367H	probably damaging	Het
Vmn2r49	A	G	7: 9,710,233 (GRCm39)	I833T	probably benign	Het
Vmn2r7	T	C	3: 64,623,900 (GRCm39)	D231G	probably benign	Het
Ythdc2	A	T	18: 44,997,424 (GRCm39)	M994L	probably benign	Het
Zfp804a	G	A	2: 82,087,932 (GRCm39)	S587N	probably damaging	Het
Zswim2	A	G	2: 83,754,003 (GRCm39)	I219T	probably benign	Het

Other mutations in Osbpl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01560:Osbpl5	APN	7	143,269,430 (GRCm39)	nonsense	probably null
IGL01996:Osbpl5	APN	7	143,261,081 (GRCm39)	critical splice donor site	probably null
IGL02135:Osbpl5	APN	7	143,258,862 (GRCm39)	missense	probably damaging	1.00
IGL02331:Osbpl5	APN	7	143,263,532 (GRCm39)	missense	probably benign	0.22
IGL02993:Osbpl5	APN	7	143,253,071 (GRCm39)	critical splice acceptor site	probably null
R0240:Osbpl5	UTSW	7	143,295,406 (GRCm39)	splice site	probably null
R0601:Osbpl5	UTSW	7	143,263,286 (GRCm39)	missense	probably damaging	0.98
R0659:Osbpl5	UTSW	7	143,258,767 (GRCm39)	missense	probably damaging	0.97
R1532:Osbpl5	UTSW	7	143,248,817 (GRCm39)	missense	probably benign
R1579:Osbpl5	UTSW	7	143,262,939 (GRCm39)	missense	possibly damaging	0.93
R1595:Osbpl5	UTSW	7	143,256,955 (GRCm39)	missense	possibly damaging	0.88
R1666:Osbpl5	UTSW	7	143,262,776 (GRCm39)	missense	probably damaging	1.00
R1668:Osbpl5	UTSW	7	143,262,776 (GRCm39)	missense	probably damaging	1.00
R1713:Osbpl5	UTSW	7	143,248,110 (GRCm39)	missense	probably damaging	1.00
R1868:Osbpl5	UTSW	7	143,269,510 (GRCm39)	missense	probably damaging	1.00
R1901:Osbpl5	UTSW	7	143,256,918 (GRCm39)	missense	possibly damaging	0.83
R1902:Osbpl5	UTSW	7	143,256,918 (GRCm39)	missense	possibly damaging	0.83
R1903:Osbpl5	UTSW	7	143,256,918 (GRCm39)	missense	possibly damaging	0.83
R1911:Osbpl5	UTSW	7	143,243,662 (GRCm39)	missense	probably benign	0.00
R1982:Osbpl5	UTSW	7	143,295,408 (GRCm39)	critical splice donor site	probably null
R2014:Osbpl5	UTSW	7	143,295,429 (GRCm39)	missense	probably damaging	0.98
R2076:Osbpl5	UTSW	7	143,262,881 (GRCm39)	missense	probably damaging	1.00
R2192:Osbpl5	UTSW	7	143,247,596 (GRCm39)	nonsense	probably null
R2256:Osbpl5	UTSW	7	143,262,831 (GRCm39)	missense	probably damaging	1.00
R4271:Osbpl5	UTSW	7	143,249,339 (GRCm39)	nonsense	probably null
R4418:Osbpl5	UTSW	7	143,263,552 (GRCm39)	nonsense	probably null
R4450:Osbpl5	UTSW	7	143,248,643 (GRCm39)	missense	probably benign	0.00
R4573:Osbpl5	UTSW	7	143,248,053 (GRCm39)	missense	probably benign	0.00
R5325:Osbpl5	UTSW	7	143,245,665 (GRCm39)	missense	probably damaging	0.99
R5439:Osbpl5	UTSW	7	143,295,433 (GRCm39)	missense	possibly damaging	0.83
R5617:Osbpl5	UTSW	7	143,246,684 (GRCm39)	missense	possibly damaging	0.89
R5775:Osbpl5	UTSW	7	143,258,266 (GRCm39)	missense	probably benign	0.00
R5935:Osbpl5	UTSW	7	143,310,695 (GRCm39)	start gained	probably benign
R6906:Osbpl5	UTSW	7	143,248,065 (GRCm39)	missense	probably damaging	0.99
R7076:Osbpl5	UTSW	7	143,263,577 (GRCm39)	missense	probably benign	0.12
R7117:Osbpl5	UTSW	7	143,263,520 (GRCm39)	missense	probably benign	0.01
R7292:Osbpl5	UTSW	7	143,255,015 (GRCm39)	missense	probably damaging	1.00
R7555:Osbpl5	UTSW	7	143,248,670 (GRCm39)	missense	possibly damaging	0.65
R7594:Osbpl5	UTSW	7	143,247,534 (GRCm39)	missense	probably benign	0.02
R8028:Osbpl5	UTSW	7	143,269,472 (GRCm39)	missense	probably benign	0.00
R8061:Osbpl5	UTSW	7	143,256,461 (GRCm39)	missense	probably benign	0.03
R8314:Osbpl5	UTSW	7	143,248,833 (GRCm39)	missense	probably benign	0.05
R8482:Osbpl5	UTSW	7	143,258,731 (GRCm39)	missense	probably benign	0.12
R9202:Osbpl5	UTSW	7	143,254,498 (GRCm39)	missense	probably benign	0.45
R9430:Osbpl5	UTSW	7	143,263,526 (GRCm39)	missense	probably benign	0.01
R9687:Osbpl5	UTSW	7	143,247,598 (GRCm39)	missense	possibly damaging	0.86
R9735:Osbpl5	UTSW	7	143,248,673 (GRCm39)	missense	possibly damaging	0.76
R9749:Osbpl5	UTSW	7	143,249,308 (GRCm39)	missense	probably benign	0.14
YA93:Osbpl5	UTSW	7	143,247,607 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACAGACTTCTCCTGTGTGGCTTTG -3'
(R):5'- CTCTGATGCTGCTATGCCATCTGG -3'

Sequencing Primer
(F):5'- TCAATTCCCTCTAGTTTGGAAGG -3'
(R):5'- CATCTGGGCCAGGACAGAG -3'

Posted On

2013-07-11