Mutagenetix > Incidental Mutation

Incidental Mutation 'R7934:Osbpl11'

648644

Institutional Source

Beutler Lab

Gene Symbol

Osbpl11

Ensembl Gene

ENSMUSG00000022807

Gene Name

oxysterol binding protein-like 11

Synonyms

ORP-11

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7934 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33185071-33243312 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33236382 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 729 (W729R)

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 damaging
Transcript: ENSMUST00000039733
AA Change: W729R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039632
Gene: ENSMUSG00000022807
AA Change: W729R

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 damaging
Transcript: ENSMUST00000232100
AA Change: W723R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232181
AA Change: W729R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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. 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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,364,015	A93V	probably benign	Het
7420426K07Rik	A	G	9: 98,903,827	R182G	possibly damaging	Het
Abca8b	G	A	11: 109,975,039	T296I	possibly damaging	Het
Adamtsl1	A	C	4: 86,243,725	Y365S	probably damaging	Het
Ambp	T	A	4: 63,149,440	I178F	probably damaging	Het
Ankle1	T	C	8: 71,406,255	V44A	possibly damaging	Het
Arhgef2	A	G	3: 88,629,914	E37G	probably damaging	Het
Atp2a2	A	G	5: 122,461,576	I584T	probably benign	Het
Ccdc171	T	A	4: 83,696,255	L1031*	probably null	Het
Ccdc173	G	A	2: 69,782,106	Q97*	probably null	Het
Cdh17	T	A	4: 11,799,754		probably null	Het
Cdip1	T	C	16: 4,768,558	T203A	probably benign	Het
Ceacam1	C	T	7: 25,463,795	V338I	possibly damaging	Het
Cep78	G	A	19: 15,956,390	T608I	probably damaging	Het
Ces3a	T	A	8: 105,048,713		probably null	Het
Chd7	A	G	4: 8,854,121	T1898A	probably benign	Het
Cpne6	T	C	14: 55,512,609	C66R	possibly damaging	Het
Creb1	G	A	1: 64,570,213	A108T	probably benign	Het
Ctnna3	A	T	10: 64,585,968	I514F	probably damaging	Het
Cyp2c55	T	C	19: 39,042,091	F456L	probably damaging	Het
Cyp2d40	A	G	15: 82,764,011	S34P	probably damaging	Het
Cyp2g1	A	T	7: 26,819,193	T378S	probably damaging	Het
Eif2b3	C	A	4: 117,066,478	Q297K	probably benign	Het
Fbll1	T	C	11: 35,798,221	N72D	unknown	Het
Fev	C	G	1: 74,882,473	R106P	probably damaging	Het
Gal3st1	A	G	11: 3,998,405	Y204C	probably damaging	Het
Gm15130	A	T	2: 111,134,237	L180Q		Het
Gm8693	T	A	7: 22,692,014	T102S	possibly damaging	Het
Greb1l	A	T	18: 10,474,371	K229*	probably null	Het
Haghl	G	T	17: 25,783,545	T214K	probably damaging	Het
Hivep1	A	G	13: 42,154,698	H138R	probably benign	Het
Ighv1-53	G	T	12: 115,158,616	Y46*	probably null	Het
Igsf21	T	C	4: 140,034,444	T308A	possibly damaging	Het
Kcnb1	A	G	2: 167,104,616	S771P	probably benign	Het
Kndc1	T	A	7: 139,921,486	M897K	probably benign	Het
Macf1	T	C	4: 123,473,934	M2345V	possibly damaging	Het
Mettl2	T	C	11: 105,128,947	S137P	probably benign	Het
Mrpl15	A	G	1: 4,774,502	S189P	probably benign	Het
Ndrg2	T	C	14: 51,906,204	Q351R	probably benign	Het
Nox4	A	G	7: 87,295,824	N65S	probably damaging	Het
Olfr351	A	G	2: 36,860,216	I44T	possibly damaging	Het
Olfr404-ps1	C	T	11: 74,240,500	S312F	probably benign	Het
Oxct2b	C	A	4: 123,116,654	C122*	probably null	Het
Pdcl3	A	T	1: 38,987,701		probably benign	Het
Plcg1	A	G	2: 160,774,578	H1294R	possibly damaging	Het
Pnp2	C	A	14: 50,964,446	S296R	probably benign	Het
Ppp1r12c	G	A	7: 4,485,417	Q337*	probably null	Het
Ranbp2	G	A	10: 58,476,475	V1006I	probably damaging	Het
Rxrg	A	G	1: 167,627,358	D170G	probably damaging	Het
Sf3b3	T	C	8: 110,821,530	T691A	probably benign	Het
Slc1a4	A	G	11: 20,308,518	I307T	probably damaging	Het
Slc4a8	G	A	15: 100,787,292	V235I	probably damaging	Het
Srgap3	T	A	6: 112,731,489	I750F	probably damaging	Het
Trim30a	A	T	7: 104,412,241	L282Q	probably damaging	Het
Tshr	A	G	12: 91,511,928	K183R	possibly damaging	Het
Usp38	A	T	8: 80,984,448	L986Q	probably damaging	Het
Vps18	A	G	2: 119,293,641	T350A	probably benign	Het
Zan	T	A	5: 137,463,579	T1113S	unknown	Het
Zbtb37	A	T	1: 161,029,735	S312R	probably damaging	Het
Zeb1	A	G	18: 5,748,703	N90S	probably benign	Het
Zfp715	A	T	7: 43,299,884	Y217*	probably null	Het
Zfp9	T	C	6: 118,464,886	T272A	probably damaging	Het
Zfp943	T	A	17: 21,993,380	H482Q	probably damaging	Het
Zfp971	A	T	2: 178,033,380	K257N	probably benign	Het

Other mutations in Osbpl11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Osbpl11	APN	16	33241745	missense	probably damaging	1.00
IGL01084:Osbpl11	APN	16	33226851	splice site	probably benign
IGL03009:Osbpl11	APN	16	33241730	splice site	probably benign
PIT4504001:Osbpl11	UTSW	16	33234494	missense	probably benign	0.04
R0071:Osbpl11	UTSW	16	33214338	splice site	probably benign
R0071:Osbpl11	UTSW	16	33214338	splice site	probably benign
R0472:Osbpl11	UTSW	16	33234444	nonsense	probably null
R0508:Osbpl11	UTSW	16	33196095	missense	probably benign
R0609:Osbpl11	UTSW	16	33234444	nonsense	probably null
R0715:Osbpl11	UTSW	16	33241730	splice site	probably benign
R1148:Osbpl11	UTSW	16	33227212	missense	probably damaging	1.00
R1148:Osbpl11	UTSW	16	33227212	missense	probably damaging	1.00
R1275:Osbpl11	UTSW	16	33185850	missense	probably benign	0.10
R1459:Osbpl11	UTSW	16	33236329	missense	probably damaging	1.00
R1464:Osbpl11	UTSW	16	33229085	missense	probably damaging	0.97
R1464:Osbpl11	UTSW	16	33229085	missense	probably damaging	0.97
R1591:Osbpl11	UTSW	16	33209983	missense	probably benign	0.00
R1752:Osbpl11	UTSW	16	33204835	missense	probably damaging	1.00
R1883:Osbpl11	UTSW	16	33214353	missense	probably benign
R1916:Osbpl11	UTSW	16	33185843	missense	probably benign
R1916:Osbpl11	UTSW	16	33210095	missense	possibly damaging	0.82
R4369:Osbpl11	UTSW	16	33224648	missense	probably damaging	1.00
R4649:Osbpl11	UTSW	16	33196082	missense	probably benign	0.12
R4873:Osbpl11	UTSW	16	33234493	missense	probably benign	0.00
R4875:Osbpl11	UTSW	16	33234493	missense	probably benign	0.00
R6074:Osbpl11	UTSW	16	33209965	missense	probably benign	0.28
R6274:Osbpl11	UTSW	16	33227056	missense	probably damaging	1.00
R7007:Osbpl11	UTSW	16	33226939	missense	possibly damaging	0.81
R7399:Osbpl11	UTSW	16	33236279	missense	probably benign
R7698:Osbpl11	UTSW	16	33234447	missense	probably benign	0.04
R7814:Osbpl11	UTSW	16	33210061	nonsense	probably null
R8870:Osbpl11	UTSW	16	33214480	missense	probably benign	0.00
R8904:Osbpl11	UTSW	16	33227237	missense	probably damaging	1.00
R9149:Osbpl11	UTSW	16	33227290	missense
R9328:Osbpl11	UTSW	16	33226875	missense	probably damaging	1.00
R9486:Osbpl11	UTSW	16	33185913	missense	possibly damaging	0.89
Z1177:Osbpl11	UTSW	16	33227084	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGGACTGCAGATCTGACTTAG -3'
(R):5'- ATTGAACCTGGCGCTCTC -3'

Sequencing Primer
(F):5'- TGGACTGCAGATCTGACTTAGAAATG -3'
(R):5'- ATCTGAACTGGGCATCATGC -3'

Posted On

2020-09-15