Mutagenetix > Incidental Mutation

Incidental Mutation 'R0601:Osbpl5'

55407

Institutional Source

Beutler Lab

Gene Symbol

Osbpl5

Ensembl Gene

ENSMUSG00000037606

Gene Name

oxysterol binding protein-like 5

Synonyms

ORP5, 1110006M06Rik, Obph1

MMRRC Submission

038790-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0601 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

143242499-143310722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143263286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 155 (D155G)

Ref Sequence

ENSEMBL: ENSMUSP00000020411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020411] [ENSMUST00000119499] [ENSMUST00000134056]

AlphaFold

Q9ER64

Predicted Effect

probably damaging
Transcript: ENSMUST00000020411
AA Change: D155G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: D155G

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: D131G

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: D131G

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

possibly damaging
Transcript: ENSMUST00000134056
AA Change: D143G

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115141
Gene: ENSMUSG00000037606
AA Change: D143G

Domain	Start	End	E-Value	Type
PDB:1V88\|A	122	187	7e-33	PDB
SCOP:d1fgya_	125	187	3e-10	SMART
Blast:PH	127	187	5e-38	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153864

Meta Mutation Damage Score

0.4533

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.2%

Validation Efficiency

98% (119/122)

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	G	14: 35,532,146 (GRCm39)	D143A	probably damaging	Het
Abca9	C	T	11: 110,007,884 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,223,309 (GRCm39)		probably benign	Het
Ablim3	T	A	18: 61,982,441 (GRCm39)	D168V	probably benign	Het
Acsl3	C	T	1: 78,673,896 (GRCm39)	S352F	probably damaging	Het
Adgrl4	A	T	3: 151,204,066 (GRCm39)		probably benign	Het
Arhgap29	A	G	3: 121,784,759 (GRCm39)	K229E	probably damaging	Het
Atad3a	A	T	4: 155,831,864 (GRCm39)	V470D	probably damaging	Het
Atp8b1	A	G	18: 64,704,724 (GRCm39)		probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Bpifa5	A	G	2: 154,006,175 (GRCm39)	N121S	possibly damaging	Het
Bpifb4	G	A	2: 153,789,203 (GRCm39)		probably benign	Het
Bptf	T	A	11: 106,952,518 (GRCm39)	T2112S	probably benign	Het
Btnl4	T	C	17: 34,688,285 (GRCm39)	K498E	probably benign	Het
Calhm2	A	G	19: 47,129,469 (GRCm39)		probably null	Het
Capn3	A	T	2: 120,333,077 (GRCm39)		probably null	Het
Caps2	T	C	10: 112,031,695 (GRCm39)	F265L	possibly damaging	Het
Casp3	G	T	8: 47,089,262 (GRCm39)	C170F	probably benign	Het
Ccdc39	T	C	3: 33,873,988 (GRCm39)	R615G	probably damaging	Het
Cd177	A	G	7: 24,451,738 (GRCm39)	I426T	probably benign	Het
Cfap53	G	A	18: 74,433,221 (GRCm39)	R102H	possibly damaging	Het
Cfhr3	G	A	1: 139,521,623 (GRCm39)		noncoding transcript	Het
Col7a1	T	C	9: 108,809,652 (GRCm39)		probably benign	Het
Cplx3	T	C	9: 57,513,357 (GRCm39)	E24G	possibly damaging	Het
Dhx30	A	G	9: 109,915,782 (GRCm39)		probably null	Het
Dnah8	T	A	17: 30,927,332 (GRCm39)	N1329K	probably benign	Het
Dnajc11	C	G	4: 152,054,393 (GRCm39)	R200G	probably damaging	Het
Dok3	A	T	13: 55,672,076 (GRCm39)	F201I	probably benign	Het
Dpf2	A	T	19: 5,952,240 (GRCm39)	H303Q	probably damaging	Het
Dtnb	A	G	12: 3,785,039 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,219,555 (GRCm39)	D129G	possibly damaging	Het
Elk3	T	C	10: 93,101,343 (GRCm39)	E136G	probably damaging	Het
Ephb1	T	C	9: 102,072,329 (GRCm39)	D150G	probably damaging	Het
Erbb3	A	G	10: 128,412,881 (GRCm39)	S570P	probably benign	Het
F2	A	T	2: 91,463,656 (GRCm39)		probably null	Het
Fanca	A	T	8: 124,035,252 (GRCm39)	M231K	probably damaging	Het
Fbxo34	T	C	14: 47,767,714 (GRCm39)	V358A	probably benign	Het
Foxp1	C	T	6: 98,907,083 (GRCm39)	E666K	probably damaging	Het
Fto	A	G	8: 92,128,430 (GRCm39)		probably null	Het
Gbp2	C	T	3: 142,336,519 (GRCm39)	R290C	possibly damaging	Het
Gm57859	T	A	11: 113,578,712 (GRCm39)	S36T	probably benign	Het
Grik2	T	G	10: 49,298,693 (GRCm39)	S343R	probably damaging	Het
Heatr5b	A	T	17: 79,075,974 (GRCm39)	M1448K	probably benign	Het
Hmgn3	A	T	9: 83,028,482 (GRCm39)		probably null	Het
Htt	T	C	5: 35,003,347 (GRCm39)	V1274A	probably benign	Het
Kcnh8	A	G	17: 53,201,033 (GRCm39)	D489G	probably damaging	Het
Kcnip3	A	T	2: 127,300,317 (GRCm39)		probably benign	Het
Kdm5a	A	G	6: 120,379,632 (GRCm39)	T647A	possibly damaging	Het
Krt72	T	C	15: 101,694,491 (GRCm39)	R135G	probably damaging	Het
Larp7	T	A	3: 127,337,858 (GRCm39)	K400N	probably damaging	Het
Lifr	T	C	15: 7,198,753 (GRCm39)		probably null	Het
Lima1	G	A	15: 99,678,353 (GRCm39)	P696L	probably damaging	Het
Lrrc8e	T	G	8: 4,285,239 (GRCm39)		probably null	Het
Map1a	A	G	2: 121,129,083 (GRCm39)	R116G	probably damaging	Het
Map3k13	A	G	16: 21,723,999 (GRCm39)	E327G	possibly damaging	Het
Med13	A	G	11: 86,236,788 (GRCm39)	V123A	possibly damaging	Het
Megf8	A	C	7: 25,027,965 (GRCm39)	H205P	probably benign	Het
Met	G	A	6: 17,555,631 (GRCm39)		probably null	Het
Mfsd14b	A	C	13: 65,234,964 (GRCm39)	V71G	possibly damaging	Het
Mpl	T	A	4: 118,300,733 (GRCm39)	T599S	probably benign	Het
Myh15	A	T	16: 48,881,944 (GRCm39)	D62V	probably damaging	Het
Myo5a	A	G	9: 75,081,297 (GRCm39)	T961A	probably benign	Het
Myrfl	A	G	10: 116,612,665 (GRCm39)	Y895H	probably damaging	Het
Nap1l1	T	C	10: 111,326,224 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 26,952,803 (GRCm39)	Y111N	probably benign	Het
Nlrc3	A	G	16: 3,766,113 (GRCm39)		probably benign	Het
Nsun2	G	T	13: 69,781,361 (GRCm39)	V657L	probably benign	Het
Or10g1b	C	A	14: 52,627,283 (GRCm39)	G316*	probably null	Het
Or4a74	T	A	2: 89,439,564 (GRCm39)	N294I	probably benign	Het
Or4b13	T	C	2: 90,083,278 (GRCm39)	D18G	probably benign	Het
Or52d1	A	T	7: 103,756,349 (GRCm39)	I288F	possibly damaging	Het
Or52e19	T	C	7: 102,959,371 (GRCm39)	S148P	probably damaging	Het
Or5k3	G	A	16: 58,970,117 (GRCm39)	M301I	probably benign	Het
Or5m13b	A	T	2: 85,753,722 (GRCm39)	I37F	probably benign	Het
Or6c68	T	A	10: 129,157,885 (GRCm39)	M131K	possibly damaging	Het
Osbpl3	A	T	6: 50,276,383 (GRCm39)	V795D	probably benign	Het
Parm1	G	A	5: 91,742,123 (GRCm39)	V164I	probably benign	Het
Pgd	A	T	4: 149,241,267 (GRCm39)		probably benign	Het
Pkp1	G	A	1: 135,805,920 (GRCm39)	R593W	probably damaging	Het
Polr2l	A	T	7: 141,053,255 (GRCm39)	V53E	probably damaging	Het
Ppp4c	G	T	7: 126,386,460 (GRCm39)	T29K	probably benign	Het
Ppp4r4	T	A	12: 103,566,779 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 76,018,711 (GRCm39)	S688P	probably benign	Het
Rab3b	A	T	4: 108,747,586 (GRCm39)	I28F	probably damaging	Het
Rnase4	T	C	14: 51,342,552 (GRCm39)	L92P	probably benign	Het
Rnpc3	T	C	3: 113,413,755 (GRCm39)	E229G	probably benign	Het
Rtraf	A	T	14: 19,866,274 (GRCm39)	D147E	possibly damaging	Het
Rttn	G	A	18: 89,061,090 (GRCm39)	G1086D	probably benign	Het
Ryr2	A	G	13: 11,720,519 (GRCm39)		probably null	Het
Sft2d2	T	C	1: 165,011,430 (GRCm39)	I126V	probably benign	Het
Skap1	G	T	11: 96,614,236 (GRCm39)		probably benign	Het
Slc14a2	A	T	18: 78,200,394 (GRCm39)	L753*	probably null	Het
Slc25a5	G	A	X: 36,059,408 (GRCm39)	A9T	probably benign	Het
Slc30a5	T	C	13: 100,951,278 (GRCm39)		probably benign	Het
Slc5a4b	A	C	10: 75,899,870 (GRCm39)	I456S	possibly damaging	Het
Slc9a4	A	T	1: 40,642,230 (GRCm39)	S400C	probably damaging	Het
Slx1b	T	A	7: 126,291,812 (GRCm39)	H84L	probably damaging	Het
Sptbn1	T	C	11: 30,100,008 (GRCm39)	Y190C	probably damaging	Het
Stk32b	T	C	5: 37,688,910 (GRCm39)	Q138R	probably damaging	Het
Syt6	C	A	3: 103,528,206 (GRCm39)	D308E	probably damaging	Het
Sytl2	G	A	7: 90,044,374 (GRCm39)	D572N	probably damaging	Het
Taok2	A	T	7: 126,478,605 (GRCm39)	L109Q	probably damaging	Het
Tbl1xr1	T	C	3: 22,233,483 (GRCm39)		probably benign	Het
Tlk1	A	G	2: 70,544,502 (GRCm39)	I711T	probably benign	Het
Trf	A	G	9: 103,100,132 (GRCm39)		probably null	Het
Trpc2	A	G	7: 101,733,572 (GRCm39)	T548A	possibly damaging	Het
Ttbk2	A	T	2: 120,655,777 (GRCm39)	I29N	possibly damaging	Het
Tti1	A	T	2: 157,835,292 (GRCm39)	C989S	probably damaging	Het
Txndc8	A	G	4: 58,000,256 (GRCm39)	Y108H	probably benign	Het
Ugt2b1	A	T	5: 87,065,539 (GRCm39)	V500D	possibly damaging	Het
Vmn1r34	A	G	6: 66,614,648 (GRCm39)	I30T	possibly damaging	Het
Vmn2r115	A	G	17: 23,579,074 (GRCm39)	K849R	probably null	Het
Vmn2r76	T	A	7: 85,875,323 (GRCm39)		probably null	Het
Vps13c	T	A	9: 67,834,754 (GRCm39)	S1694R	probably benign	Het
Wdfy3	G	T	5: 101,984,038 (GRCm39)	P3509T	probably benign	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Wnt8b	T	A	19: 44,482,106 (GRCm39)	W40R	probably benign	Het
Xrra1	A	G	7: 99,560,175 (GRCm39)	I384V	possibly damaging	Het
Zfp11	A	T	5: 129,734,971 (GRCm39)	H163Q	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
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
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'- CCTCAACAGCATCTTGACTTGGGAC -3'
(R):5'- CAGGCTGAGTACAGGCTATGCAATG -3'

Sequencing Primer
(F):5'- ATCTTGACTTGGGACTCTGC -3'
(R):5'- GGATCTGACAAGGAATGTACCTCTC -3'

Posted On

2013-07-11