Mutagenetix > Incidental Mutation

Incidental Mutation 'R4573:Osbpl5'

342270

Institutional Source

Beutler Lab

Gene Symbol

Osbpl5

Ensembl Gene

ENSMUSG00000037606

Gene Name

oxysterol binding protein-like 5

Synonyms

ORP5, 1110006M06Rik, Obph1

MMRRC Submission

041598-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4573 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143242499-143310722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 143248053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 671 (V671L)

Ref Sequence

ENSEMBL: ENSMUSP00000113362 (fasta)

Gene Model

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

AlphaFold

Q9ER64

Predicted Effect

probably benign
Transcript: ENSMUST00000020411
AA Change: V695L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: V695L

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 benign
Transcript: ENSMUST00000119499
AA Change: V671L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: V671L

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

probably benign
Transcript: ENSMUST00000121409
AA Change: V671L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113375
Gene: ENSMUSG00000037606
AA Change: V671L

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,253,293 (GRCm39)	E212G	probably damaging	Het
Adam1b	A	C	5: 121,638,856 (GRCm39)	S730A	probably benign	Het
Akr1b10	T	C	6: 34,369,064 (GRCm39)	V153A	probably damaging	Het
Ap1m2	T	C	9: 21,217,054 (GRCm39)	Y94C	probably damaging	Het
Arhgef33	T	C	17: 80,672,711 (GRCm39)	S320P	probably damaging	Het
Arsg	T	C	11: 109,408,108 (GRCm39)	S87P	probably damaging	Het
Asic3	A	G	5: 24,622,190 (GRCm39)	Y458C	probably damaging	Het
Aspm	G	T	1: 139,407,245 (GRCm39)	W2044L	probably damaging	Het
Atad2b	T	C	12: 5,004,663 (GRCm39)		probably null	Het
Atp1a2	T	C	1: 172,106,204 (GRCm39)	I869M	possibly damaging	Het
Bpifb2	C	T	2: 153,731,412 (GRCm39)	L263F	probably damaging	Het
C1s2	T	C	6: 124,605,202 (GRCm39)		probably null	Het
Carf	G	T	1: 60,187,271 (GRCm39)	A590S	probably benign	Het
Cbarp	G	T	10: 79,967,245 (GRCm39)	D658E	probably damaging	Het
Cd1d2	A	G	3: 86,894,861 (GRCm39)	I78V	probably benign	Het
Cdc42bpb	A	T	12: 111,289,575 (GRCm39)	M418K	probably benign	Het
Cdhr3	A	T	12: 33,118,152 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,354,712 (GRCm39)	K932R	probably benign	Het
Ces1d	A	C	8: 93,908,162 (GRCm39)	N310K	probably benign	Het
Chka	A	G	19: 3,935,960 (GRCm39)	K240R	probably damaging	Het
Cltb	C	T	13: 54,746,574 (GRCm39)	R64H	probably damaging	Het
Cyp4f37	A	G	17: 32,848,061 (GRCm39)	E193G	probably benign	Het
Dhrs9	C	A	2: 69,227,985 (GRCm39)	H200N	probably benign	Het
Dnah6	T	A	6: 73,063,164 (GRCm39)	N2698I	probably damaging	Het
Dnah8	T	C	17: 30,919,380 (GRCm39)	S1118P	probably benign	Het
Dyrk1a	A	G	16: 94,492,882 (GRCm39)	Y705C	possibly damaging	Het
Elmod1	T	C	9: 53,833,256 (GRCm39)	N183S	probably damaging	Het
Fer1l6	G	A	15: 58,498,129 (GRCm39)		probably null	Het
Fsip2	A	T	2: 82,816,510 (GRCm39)	Y4081F	possibly damaging	Het
Gsr	A	G	8: 34,183,881 (GRCm39)	D381G	probably benign	Het
Gucy1a1	A	G	3: 82,016,229 (GRCm39)	L253S	possibly damaging	Het
Herc3	C	A	6: 58,871,098 (GRCm39)	T69K	possibly damaging	Het
Hoxb13	A	G	11: 96,085,777 (GRCm39)	Y170C	probably damaging	Het
Hsd3b5	T	C	3: 98,526,964 (GRCm39)	M161V	probably benign	Het
Lrp6	G	A	6: 134,447,693 (GRCm39)	R985*	probably null	Het
Marchf5	T	A	19: 37,197,793 (GRCm39)	I154K	probably damaging	Het
Mcemp1	A	G	8: 3,715,835 (GRCm39)		probably null	Het
Mrpl2	G	T	17: 46,959,967 (GRCm39)	C212F	possibly damaging	Het
Mterf1a	G	A	5: 3,941,119 (GRCm39)	R250W	possibly damaging	Het
Mthfd1	A	G	12: 76,340,912 (GRCm39)		probably null	Het
Mul1	T	C	4: 138,163,660 (GRCm39)	F19L	probably benign	Het
Mycbp2	G	T	14: 103,583,733 (GRCm39)	A74E	probably benign	Het
Myo5a	A	T	9: 75,108,579 (GRCm39)		probably null	Het
Ncor2	A	T	5: 125,132,889 (GRCm39)	S33T	probably damaging	Het
Niban1	T	C	1: 151,579,517 (GRCm39)	V412A	possibly damaging	Het
Ninj1	A	G	13: 49,348,463 (GRCm39)	N191S	probably damaging	Het
Nrap	T	C	19: 56,330,770 (GRCm39)		probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or1j21	T	A	2: 36,683,491 (GRCm39)	M81K	probably damaging	Het
Or1n1b	T	C	2: 36,780,202 (GRCm39)	I219M	probably damaging	Het
Paics	T	C	5: 77,104,450 (GRCm39)	L25S	probably benign	Het
Pcmtd1	A	G	1: 7,190,591 (GRCm39)	E20G	probably damaging	Het
Pgbd5	G	A	8: 125,102,966 (GRCm39)	Q228*	probably null	Het
Pnpla7	T	C	2: 24,940,885 (GRCm39)	V1079A	probably damaging	Het
Pou2f1	G	A	1: 165,740,830 (GRCm39)	T113I	probably benign	Het
Ppp1r14c	A	G	10: 3,413,416 (GRCm39)	I150V	possibly damaging	Het
Ppp1r2	A	G	16: 31,079,455 (GRCm39)	Y115H	possibly damaging	Het
Ptchd4	T	C	17: 42,813,668 (GRCm39)	V523A	probably benign	Het
Rabep1	G	C	11: 70,808,577 (GRCm39)	S468T	probably damaging	Het
Rgs6	T	A	12: 83,112,789 (GRCm39)	W200R	probably damaging	Het
Ryr3	C	T	2: 112,585,519 (GRCm39)		probably null	Het
Scamp2	A	T	9: 57,484,477 (GRCm39)	D20V	probably damaging	Het
Sec24d	G	A	3: 123,152,519 (GRCm39)	V844M	probably damaging	Het
Septin10	T	A	10: 59,028,151 (GRCm39)	N57Y	probably damaging	Het
Sis	T	C	3: 72,835,570 (GRCm39)	K931E	possibly damaging	Het
Slamf7	T	C	1: 171,463,934 (GRCm39)	T258A	probably benign	Het
Slc15a1	A	G	14: 121,724,441 (GRCm39)	S144P	probably damaging	Het
Slc6a7	A	T	18: 61,135,253 (GRCm39)	V425E	probably benign	Het
Syt7	C	T	19: 10,416,576 (GRCm39)	R253*	probably null	Het
Tm4sf1	A	T	3: 57,202,206 (GRCm39)	C2S	possibly damaging	Het
Trio	CCTTCTTCTTCT	CCTTCTTCT	15: 27,773,084 (GRCm39)		probably benign	Het
Trpm3	C	T	19: 22,879,506 (GRCm39)	H594Y	probably damaging	Het
Tshz1	A	T	18: 84,033,207 (GRCm39)	N400K	probably damaging	Het
Vat1	A	T	11: 101,351,441 (GRCm39)	M300K	probably benign	Het
Vmn1r70	C	A	7: 10,367,556 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,339 (GRCm39)	D410N	probably damaging	Het
Yap1	T	C	9: 7,934,682 (GRCm39)	D428G	probably damaging	Het
Zbed6	A	G	1: 133,587,127 (GRCm39)	I70T	probably benign	Het
Zfp157	A	G	5: 138,455,191 (GRCm39)	Y463C	probably damaging	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
R0609:Osbpl5	UTSW	7	143,248,558 (GRCm39)	missense	probably damaging	0.99
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
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'- ACAGTGGACTCAGTCTGCAAG -3'
(R):5'- AGGCTTCCTGCAAGATAGC -3'

Sequencing Primer
(F):5'- GACTCAGTCTGCAAGCTCCC -3'
(R):5'- TTGTCACGGAAGGCAACC -3'

Posted On

2015-09-24