Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Osbpl11'

574062

Institutional Source

Beutler Lab

Gene Symbol

Osbpl11

Ensembl Gene

ENSMUSG00000022807

Gene Name

oxysterol binding protein-like 11

Synonyms

ORP-11

MMRRC Submission

045481-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33185071-33243312 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33236279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 694 (D694E)

Ref Sequence

ENSEMBL: ENSMUSP00000039632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039733] [ENSMUST00000232100] [ENSMUST00000232181]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039733
AA Change: D694E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039632
Gene: ENSMUSG00000022807
AA Change: D694E

Domain	Start	End	E-Value	Type
low complexity region	37	59	N/A	INTRINSIC
PH	70	168	2.03e-14	SMART
low complexity region	257	268	N/A	INTRINSIC
Pfam:Oxysterol_BP	383	749	1.9e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000232100
AA Change: D688E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000232181
AA Change: D694E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679 (GRCm38)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593 (GRCm38)	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466 (GRCm38)		probably null	Het
Arfgef1	T	A	1: 10,180,897 (GRCm38)	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060 (GRCm38)	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882 (GRCm38)	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
C87499	C	A	4: 88,627,965 (GRCm38)	R380L	probably benign	Het
Cdc25b	A	G	2: 131,194,654 (GRCm38)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667 (GRCm38)	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378 (GRCm38)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829 (GRCm38)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629 (GRCm38)	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483 (GRCm38)	H639N	probably damaging	Het
Dnah11	T	C	12: 118,125,785 (GRCm38)	E1182G	probably damaging	Het
Dnah11	T	G	12: 118,027,477 (GRCm38)	T2385P	probably benign	Het
Dok7	T	C	5: 35,066,471 (GRCm38)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393 (GRCm38)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254 (GRCm38)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149 (GRCm38)		probably benign	Het
Hnmt	T	A	2: 24,003,880 (GRCm38)	T201S	probably benign	Het
Jup	G	T	11: 100,378,351 (GRCm38)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059 (GRCm38)	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644 (GRCm38)	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000 (GRCm38)	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948 (GRCm38)	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673 (GRCm38)	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090 (GRCm38)	D239N		Het
Mgam	T	A	6: 40,666,854 (GRCm38)	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142 (GRCm38)	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823 (GRCm38)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291 (GRCm38)	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727 (GRCm38)	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934 (GRCm38)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173 (GRCm38)	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676 (GRCm38)	I1032N	probably damaging	Het
Olfr1002	T	A	2: 85,647,424 (GRCm38)	D299V	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157 (GRCm38)	T213I	probably benign	Het
Olfr1170	A	T	2: 88,225,022 (GRCm38)	Y3*	probably null	Het
Olfr1450	A	G	19: 12,954,447 (GRCm38)	N286S	probably damaging	Het
Olfr449	T	G	6: 42,838,746 (GRCm38)	Y288*	probably null	Het
Olfr455	A	G	6: 42,538,728 (GRCm38)	F98S	possibly damaging	Het
Olfr617	A	T	7: 103,584,381 (GRCm38)	I120L	possibly damaging	Het
Olfr782	A	T	10: 129,350,557 (GRCm38)		probably benign	Het
Olfr996	A	G	2: 85,579,296 (GRCm38)	D19G	probably benign	Het
Oog2	A	G	4: 144,195,281 (GRCm38)	K254E	probably benign	Het
Pcm1	T	A	8: 41,293,510 (GRCm38)	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863 (GRCm38)	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867 (GRCm38)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376 (GRCm38)	F272S	probably damaging	Het
Ptgdr	A	T	14: 44,858,232 (GRCm38)		probably null	Het
Ptprf	C	T	4: 118,226,523 (GRCm38)	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148 (GRCm38)	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655 (GRCm38)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884 (GRCm38)	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367 (GRCm38)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286 (GRCm38)		probably null	Het
Scn5a	A	T	9: 119,486,530 (GRCm38)	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268 (GRCm38)	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068 (GRCm38)	C538S	probably benign	Het
Spert	A	G	14: 75,592,637 (GRCm38)	S39P	probably benign	Het
Stard6	T	C	18: 70,498,647 (GRCm38)		probably null	Het
Strip2	T	A	6: 29,927,613 (GRCm38)	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085 (GRCm38)	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690 (GRCm38)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097 (GRCm38)	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657 (GRCm38)		probably benign	Het
Vmn1r42	T	C	6: 89,845,513 (GRCm38)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503 (GRCm38)		probably null	Het
Wdfy4	A	C	14: 33,068,906 (GRCm38)	V2188G		Het
Zfp623	T	C	15: 75,947,398 (GRCm38)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155 (GRCm38)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104 (GRCm38)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053 (GRCm38)	V536L	probably damaging	Het

Other mutations in Osbpl11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Osbpl11	APN	16	33,241,745 (GRCm38)	missense	probably damaging	1.00
IGL01084:Osbpl11	APN	16	33,226,851 (GRCm38)	splice site	probably benign
IGL03009:Osbpl11	APN	16	33,241,730 (GRCm38)	splice site	probably benign
PIT4504001:Osbpl11	UTSW	16	33,234,494 (GRCm38)	missense	probably benign	0.04
R0071:Osbpl11	UTSW	16	33,214,338 (GRCm38)	splice site	probably benign
R0071:Osbpl11	UTSW	16	33,214,338 (GRCm38)	splice site	probably benign
R0472:Osbpl11	UTSW	16	33,234,444 (GRCm38)	nonsense	probably null
R0508:Osbpl11	UTSW	16	33,196,095 (GRCm38)	missense	probably benign
R0609:Osbpl11	UTSW	16	33,234,444 (GRCm38)	nonsense	probably null
R0715:Osbpl11	UTSW	16	33,241,730 (GRCm38)	splice site	probably benign
R1148:Osbpl11	UTSW	16	33,227,212 (GRCm38)	missense	probably damaging	1.00
R1148:Osbpl11	UTSW	16	33,227,212 (GRCm38)	missense	probably damaging	1.00
R1275:Osbpl11	UTSW	16	33,185,850 (GRCm38)	missense	probably benign	0.10
R1459:Osbpl11	UTSW	16	33,236,329 (GRCm38)	missense	probably damaging	1.00
R1464:Osbpl11	UTSW	16	33,229,085 (GRCm38)	missense	probably damaging	0.97
R1464:Osbpl11	UTSW	16	33,229,085 (GRCm38)	missense	probably damaging	0.97
R1591:Osbpl11	UTSW	16	33,209,983 (GRCm38)	missense	probably benign	0.00
R1752:Osbpl11	UTSW	16	33,204,835 (GRCm38)	missense	probably damaging	1.00
R1883:Osbpl11	UTSW	16	33,214,353 (GRCm38)	missense	probably benign
R1916:Osbpl11	UTSW	16	33,210,095 (GRCm38)	missense	possibly damaging	0.82
R1916:Osbpl11	UTSW	16	33,185,843 (GRCm38)	missense	probably benign
R4369:Osbpl11	UTSW	16	33,224,648 (GRCm38)	missense	probably damaging	1.00
R4649:Osbpl11	UTSW	16	33,196,082 (GRCm38)	missense	probably benign	0.12
R4873:Osbpl11	UTSW	16	33,234,493 (GRCm38)	missense	probably benign	0.00
R4875:Osbpl11	UTSW	16	33,234,493 (GRCm38)	missense	probably benign	0.00
R6074:Osbpl11	UTSW	16	33,209,965 (GRCm38)	missense	probably benign	0.28
R6274:Osbpl11	UTSW	16	33,227,056 (GRCm38)	missense	probably damaging	1.00
R7007:Osbpl11	UTSW	16	33,226,939 (GRCm38)	missense	possibly damaging	0.81
R7698:Osbpl11	UTSW	16	33,234,447 (GRCm38)	missense	probably benign	0.04
R7814:Osbpl11	UTSW	16	33,210,061 (GRCm38)	nonsense	probably null
R7934:Osbpl11	UTSW	16	33,236,382 (GRCm38)	missense	probably damaging	1.00
R8870:Osbpl11	UTSW	16	33,214,480 (GRCm38)	missense	probably benign	0.00
R8904:Osbpl11	UTSW	16	33,227,237 (GRCm38)	missense	probably damaging	1.00
R9149:Osbpl11	UTSW	16	33,227,290 (GRCm38)	missense
R9328:Osbpl11	UTSW	16	33,226,875 (GRCm38)	missense	probably damaging	1.00
R9486:Osbpl11	UTSW	16	33,185,913 (GRCm38)	missense	possibly damaging	0.89
Z1177:Osbpl11	UTSW	16	33,227,084 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTGTAGCTTGAGGAAATGCTTC -3'
(R):5'- GGGTACACAATGAGCCATGG -3'

Sequencing Primer
(F):5'- GCTTGAGGAAATGCTTCTTAATTG -3'
(R):5'- CAATGAGCCATGGCCGAATGC -3'

Posted On

2019-09-13