Mutagenetix > Incidental Mutation

Incidental Mutation 'R8904:Osbpl11'

678401

Institutional Source

Beutler Lab

Gene Symbol

Osbpl11

Ensembl Gene

ENSMUSG00000022807

Gene Name

oxysterol binding protein-like 11

Synonyms

ORP-11

MMRRC Submission

068761-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8904 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33005441-33063682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33047607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 523 (H523Q)

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: H523Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039632
Gene: ENSMUSG00000022807
AA Change: H523Q

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: H517Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232181
AA Change: H523Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA	CCGGA	16: 21,472,148 (GRCm39)		probably null	Het
Adcy1	T	G	11: 7,059,075 (GRCm39)	L327R	probably damaging	Het
Ajm1	A	T	2: 25,467,914 (GRCm39)	S666T	probably benign	Het
Amotl1	T	C	9: 14,469,861 (GRCm39)	Q624R	probably damaging	Het
Ampd1	A	G	3: 102,988,374 (GRCm39)	T106A	probably benign	Het
Aqr	T	A	2: 113,967,474 (GRCm39)	I514F	probably damaging	Het
Atp2b1	A	G	10: 98,804,866 (GRCm39)	T30A	possibly damaging	Het
Atp9a	A	T	2: 168,547,097 (GRCm39)	Y186N	probably benign	Het
Bub1	T	A	2: 127,671,622 (GRCm39)	N21I	possibly damaging	Het
Cachd1	G	A	4: 100,810,363 (GRCm39)	D322N	probably damaging	Het
Ccdc38	A	G	10: 93,411,197 (GRCm39)	E402G	probably damaging	Het
Ccl27a	A	T	4: 41,774,194 (GRCm39)		probably null	Het
Clec4a4	T	C	6: 122,990,836 (GRCm39)		probably benign	Het
Clic5	A	T	17: 44,552,992 (GRCm39)	K82M	probably benign	Het
Cnot10	A	T	9: 114,430,423 (GRCm39)	S566T	probably benign	Het
Cul9	T	C	17: 46,831,427 (GRCm39)	T1596A	probably damaging	Het
Cyp2c55	A	G	19: 39,022,816 (GRCm39)	E318G		Het
Entpd8	A	C	2: 24,973,575 (GRCm39)		probably benign	Het
Epb41l5	A	G	1: 119,547,936 (GRCm39)	F156L	probably damaging	Het
Ephb4	T	A	5: 137,369,067 (GRCm39)	M819K	probably damaging	Het
Esr1	A	G	10: 4,696,654 (GRCm39)	R168G	possibly damaging	Het
Fbxw10	C	A	11: 62,765,831 (GRCm39)	Y700*	probably null	Het
Fras1	G	T	5: 96,929,138 (GRCm39)	R3847S	probably benign	Het
Gm11110	T	C	17: 57,410,439 (GRCm39)	T20A	unknown	Het
Gpr150	G	T	13: 76,204,528 (GRCm39)	S139*	probably null	Het
Grm1	A	T	10: 10,595,281 (GRCm39)	N782K	probably damaging	Het
Hmcn2	A	G	2: 31,323,404 (GRCm39)	S4173G	possibly damaging	Het
Hmx1	T	A	5: 35,549,511 (GRCm39)	V268D	probably damaging	Het
Hsbp1l1	T	C	18: 80,278,685 (GRCm39)	T33A	possibly damaging	Het
Hsd17b3	T	C	13: 64,212,194 (GRCm39)	T161A	probably damaging	Het
Igll1	A	T	16: 16,681,576 (GRCm39)	W60R	probably benign	Het
Itga11	A	G	9: 62,664,893 (GRCm39)	T593A	probably benign	Het
Kat6a	A	G	8: 23,428,824 (GRCm39)	D1393G	possibly damaging	Het
Krt36	A	G	11: 99,996,173 (GRCm39)	F84L	probably benign	Het
Macrod1	T	C	19: 7,174,385 (GRCm39)	S266P	probably damaging	Het
Mib2	A	G	4: 155,744,173 (GRCm39)	V163A	probably damaging	Het
Mmut	A	G	17: 41,248,284 (GRCm39)	T104A	probably damaging	Het
Mpl	A	G	4: 118,301,263 (GRCm39)	L534P		Het
Myo3b	C	A	2: 70,257,252 (GRCm39)	H1317N	probably benign	Het
Nkx2-6	A	G	14: 69,409,420 (GRCm39)	D57G	probably benign	Het
Or1ab2	A	G	8: 72,864,276 (GRCm39)	I289V	probably damaging	Het
Or5b24	T	C	19: 12,912,192 (GRCm39)	V30A	probably benign	Het
Or5d46	T	G	2: 88,169,949 (GRCm39)	F13L	possibly damaging	Het
Or5p79	A	G	7: 108,221,919 (GRCm39)	N300S	probably damaging	Het
Or6s1	A	G	14: 51,308,665 (GRCm39)	Y62H	probably damaging	Het
Or7g33	A	T	9: 19,448,760 (GRCm39)	D155E	possibly damaging	Het
Pde1c	A	T	6: 56,156,128 (GRCm39)	S148T	possibly damaging	Het
Pign	G	A	1: 105,519,359 (GRCm39)	A521V	possibly damaging	Het
Pprc1	A	G	19: 46,060,183 (GRCm39)	M1536V	possibly damaging	Het
Prg4	C	A	1: 150,331,810 (GRCm39)	A288S	possibly damaging	Het
Prim2	A	T	1: 33,669,513 (GRCm39)	I154N	possibly damaging	Het
Prkdc	T	C	16: 15,545,590 (GRCm39)	V1902A	probably benign	Het
Prss40	C	T	1: 34,595,045 (GRCm39)		probably benign	Het
Ret	C	T	6: 118,157,174 (GRCm39)		probably benign	Het
Rgs22	A	T	15: 36,026,127 (GRCm39)	C1056S	probably damaging	Het
Schip1	T	C	3: 68,402,436 (GRCm39)	L199P	possibly damaging	Het
Sema4d	A	T	13: 51,854,935 (GRCm39)	L54*	probably null	Het
Sgsm1	C	T	5: 113,421,495 (GRCm39)	G531R	probably benign	Het
Tas1r2	T	C	4: 139,394,714 (GRCm39)	F519S	probably damaging	Het
Tnfsf11	C	T	14: 78,516,119 (GRCm39)	R283Q	possibly damaging	Het
Tril	C	T	6: 53,797,202 (GRCm39)	V7M	possibly damaging	Het
Tsr1	T	A	11: 74,790,217 (GRCm39)	Y137*	probably null	Het
Ubr5	A	G	15: 38,042,153 (GRCm39)	S148P		Het
Unc13b	A	G	4: 43,178,531 (GRCm39)		probably benign	Het
Zfp606	A	G	7: 12,223,506 (GRCm39)	T64A	possibly damaging	Het

Other mutations in Osbpl11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Osbpl11	APN	16	33,062,115 (GRCm39)	missense	probably damaging	1.00
IGL01084:Osbpl11	APN	16	33,047,221 (GRCm39)	splice site	probably benign
IGL03009:Osbpl11	APN	16	33,062,100 (GRCm39)	splice site	probably benign
PIT4504001:Osbpl11	UTSW	16	33,054,864 (GRCm39)	missense	probably benign	0.04
R0071:Osbpl11	UTSW	16	33,034,708 (GRCm39)	splice site	probably benign
R0071:Osbpl11	UTSW	16	33,034,708 (GRCm39)	splice site	probably benign
R0472:Osbpl11	UTSW	16	33,054,814 (GRCm39)	nonsense	probably null
R0508:Osbpl11	UTSW	16	33,016,465 (GRCm39)	missense	probably benign
R0609:Osbpl11	UTSW	16	33,054,814 (GRCm39)	nonsense	probably null
R0715:Osbpl11	UTSW	16	33,062,100 (GRCm39)	splice site	probably benign
R1148:Osbpl11	UTSW	16	33,047,582 (GRCm39)	missense	probably damaging	1.00
R1148:Osbpl11	UTSW	16	33,047,582 (GRCm39)	missense	probably damaging	1.00
R1275:Osbpl11	UTSW	16	33,006,220 (GRCm39)	missense	probably benign	0.10
R1459:Osbpl11	UTSW	16	33,056,699 (GRCm39)	missense	probably damaging	1.00
R1464:Osbpl11	UTSW	16	33,049,455 (GRCm39)	missense	probably damaging	0.97
R1464:Osbpl11	UTSW	16	33,049,455 (GRCm39)	missense	probably damaging	0.97
R1591:Osbpl11	UTSW	16	33,030,353 (GRCm39)	missense	probably benign	0.00
R1752:Osbpl11	UTSW	16	33,025,205 (GRCm39)	missense	probably damaging	1.00
R1883:Osbpl11	UTSW	16	33,034,723 (GRCm39)	missense	probably benign
R1916:Osbpl11	UTSW	16	33,030,465 (GRCm39)	missense	possibly damaging	0.82
R1916:Osbpl11	UTSW	16	33,006,213 (GRCm39)	missense	probably benign
R4369:Osbpl11	UTSW	16	33,045,018 (GRCm39)	missense	probably damaging	1.00
R4649:Osbpl11	UTSW	16	33,016,452 (GRCm39)	missense	probably benign	0.12
R4873:Osbpl11	UTSW	16	33,054,863 (GRCm39)	missense	probably benign	0.00
R4875:Osbpl11	UTSW	16	33,054,863 (GRCm39)	missense	probably benign	0.00
R6074:Osbpl11	UTSW	16	33,030,335 (GRCm39)	missense	probably benign	0.28
R6274:Osbpl11	UTSW	16	33,047,426 (GRCm39)	missense	probably damaging	1.00
R7007:Osbpl11	UTSW	16	33,047,309 (GRCm39)	missense	possibly damaging	0.81
R7399:Osbpl11	UTSW	16	33,056,649 (GRCm39)	missense	probably benign
R7698:Osbpl11	UTSW	16	33,054,817 (GRCm39)	missense	probably benign	0.04
R7814:Osbpl11	UTSW	16	33,030,431 (GRCm39)	nonsense	probably null
R7934:Osbpl11	UTSW	16	33,056,752 (GRCm39)	missense	probably damaging	1.00
R8870:Osbpl11	UTSW	16	33,034,850 (GRCm39)	missense	probably benign	0.00
R9149:Osbpl11	UTSW	16	33,047,660 (GRCm39)	missense
R9328:Osbpl11	UTSW	16	33,047,245 (GRCm39)	missense	probably damaging	1.00
R9486:Osbpl11	UTSW	16	33,006,283 (GRCm39)	missense	possibly damaging	0.89
Z1177:Osbpl11	UTSW	16	33,047,454 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACTTTCCACTGCTCCTGG -3'
(R):5'- TGGCTATCCTGCATCATACATAC -3'

Sequencing Primer
(F):5'- CTCCTGGAGGATGCCTAAGAG -3'
(R):5'- ACCTATAGAGCCTTTCCAAGCTTAG -3'

Posted On

2021-08-02