Mutagenetix > Incidental Mutation

Incidental Mutation 'R7810:Osbpl10'

601104

Institutional Source

Beutler Lab

Gene Symbol

Osbpl10

Ensembl Gene

ENSMUSG00000040875

Gene Name

oxysterol binding protein-like 10

Synonyms

C820004B04Rik, OPR-10, 4933433D06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114978569-115232225 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115061894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 117 (H117Y)

Ref Sequence

ENSEMBL: ENSMUSP00000138287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000182199] [ENSMUST00000182384] [ENSMUST00000182920] [ENSMUST00000183104] [ENSMUST00000183141]

AlphaFold

S4R1M9

Predicted Effect

probably benign
Transcript: ENSMUST00000182199

SMART Domains

Protein: ENSMUSP00000138206
Gene: ENSMUSG00000040875

Domain	Start	End	E-Value	Type
Blast:PH	1	36	8e-19	BLAST
PDB:2D9X\|A	1	42	2e-8	PDB
SCOP:d1ki1b2	10	42	7e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182384

SMART Domains

Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875

Domain	Start	End	E-Value	Type
Blast:PH	1	36	8e-16	BLAST
PDB:2D9X\|A	2	46	6e-7	PDB
SCOP:d1ki1b2	10	42	9e-3	SMART
low complexity region	131	152	N/A	INTRINSIC
Pfam:Oxysterol_BP	262	626	1.5e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182920

Predicted Effect

probably benign
Transcript: ENSMUST00000183104
AA Change: H117Y

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: H117Y

Domain	Start	End	E-Value	Type
low complexity region	4	75	N/A	INTRINSIC
PH	77	175	2.72e-15	SMART
low complexity region	270	291	N/A	INTRINSIC
Pfam:Oxysterol_BP	401	765	1.4e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183141

SMART Domains

Protein: ENSMUSP00000138760
Gene: ENSMUSG00000040875

Domain	Start	End	E-Value	Type
Blast:PH	1	36	3e-18	BLAST
PDB:2D9X\|A	2	46	6e-8	PDB
SCOP:d1ki1b2	10	42	9e-4	SMART
low complexity region	131	152	N/A	INTRINSIC

Meta Mutation Damage Score

0.0610

Coding Region Coverage

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

Validation Efficiency

99% (91/92)

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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	C	5: 109,677,304	Y93*	probably null	Het
Adam34	T	C	8: 43,652,008	E200G	probably benign	Het
Ankfy1	C	T	11: 72,754,455	Q787*	probably null	Het
BC003331	T	C	1: 150,392,908		probably benign	Het
Birc6	T	A	17: 74,548,820	H208Q	probably damaging	Het
Brsk2	T	A	7: 141,985,420		probably null	Het
Cabp5	T	A	7: 13,398,338	F11I	possibly damaging	Het
Casc1	T	G	6: 145,194,586	D163A	probably benign	Het
Ccdc88a	T	C	11: 29,485,964	Y1296H	probably damaging	Het
Ccdc88b	A	G	19: 6,849,086	V1087A	probably benign	Het
Cct3	C	T	3: 88,321,135	T508I	probably damaging	Het
Ceacam9	T	A	7: 16,723,733	M57K	possibly damaging	Het
Ces1f	T	C	8: 93,256,918	E487G	probably damaging	Het
Chd5	A	G	4: 152,358,575	K278E	probably damaging	Het
Cntnap3	T	A	13: 64,793,308	H286L	possibly damaging	Het
Efr3a	G	T	15: 65,787,173		probably benign	Het
Fam208b	T	C	13: 3,575,714	K1412R	possibly damaging	Het
Fastkd2	T	A	1: 63,731,692	I69N	possibly damaging	Het
Flg2	T	C	3: 93,200,241	I11T	possibly damaging	Het
Folr2	T	C	7: 101,840,895	M84V	possibly damaging	Het
Galnt12	T	C	4: 47,113,786	F360S	probably damaging	Het
Galr2	T	C	11: 116,283,120	V192A	probably benign	Het
Gas6	A	T	8: 13,466,809	I563N	probably damaging	Het
Gbe1	T	C	16: 70,527,197	F567L	possibly damaging	Het
Gm12695	G	A	4: 96,731,371	H423Y	probably damaging	Het
Gm14548	C	A	7: 3,894,205	C544F	probably damaging	Het
Gm6902	T	C	7: 23,273,818	T95A	probably benign	Het
Gpr155	G	T	2: 73,381,952	A109D	probably damaging	Het
Hsdl1	T	C	8: 119,567,972	D5G	probably damaging	Het
Hyal1	C	T	9: 107,578,429	P313S	probably damaging	Het
Igfn1	G	A	1: 135,974,789	T390M	probably damaging	Het
Irx1	C	A	13: 71,959,798	R255L	probably benign	Het
Itga2	T	A	13: 114,866,179	T592S	probably benign	Het
Kit	C	A	5: 75,609,322	S131R	probably benign	Het
Map1b	T	C	13: 99,431,882	T1444A	unknown	Het
Mapk8ip1	C	T	2: 92,389,151	E112K	probably benign	Het
Marveld3	T	C	8: 109,954,634	I210V	probably damaging	Het
Masp1	T	A	16: 23,476,318	I398L	probably benign	Het
Mmrn1	T	C	6: 60,976,325	I530T	probably benign	Het
Mtss1l	A	G	8: 110,726,201	Y26C	probably damaging	Het
Myo5a	T	A	9: 75,160,465	S600R	probably benign	Het
Myo5a	A	G	9: 75,169,010	I836V	probably benign	Het
Naaladl1	A	G	19: 6,109,664	D375G	probably damaging	Het
Napepld	T	A	5: 21,683,265	D62V	possibly damaging	Het
Nedd9	A	C	13: 41,312,007	I719S	possibly damaging	Het
Nes	T	A	3: 87,975,616	M394K	probably benign	Het
Nlrc5	A	T	8: 94,505,144	Y1288F	possibly damaging	Het
Nlrp14	T	A	7: 107,192,575	C822*	probably null	Het
Noa1	A	C	5: 77,309,224	L278R	probably damaging	Het
Nop16	A	G	13: 54,590,076		probably benign	Het
Olfr1448	A	G	19: 12,919,865	V148A	probably benign	Het
Olfr746	A	T	14: 50,653,993	Y252F	probably benign	Het
Oxct1	A	T	15: 4,047,576	E130D	probably benign	Het
Padi2	A	G	4: 140,949,264	E571G	possibly damaging	Het
Pcdhac2	G	A	18: 37,145,664	V566M	probably benign	Het
Pdcd11	G	A	19: 47,098,220	E222K	possibly damaging	Het
Plekha2	A	G	8: 25,088,340		probably null	Het
Pogz	T	C	3: 94,870,107	L366P	probably benign	Het
Ppp4r3b	A	G	11: 29,188,086	I145V	probably benign	Het
Prkcd	A	G	14: 30,598,450		probably null	Het
Ptprk	T	A	10: 28,592,857	H1438Q	probably damaging	Het
Rbm4	A	T	19: 4,792,622	V63E	possibly damaging	Het
Sbk2	T	A	7: 4,958,939	H116L	probably damaging	Het
Sdk1	A	G	5: 141,937,679	T352A	probably benign	Het
Sept9	T	A	11: 117,359,438	C529*	probably null	Het
Setx	T	A	2: 29,148,651	V1716D	probably benign	Het
Slc19a3	C	T	1: 83,019,441	V349I	probably benign	Het
Slc27a4	C	A	2: 29,805,710	R86S	probably benign	Het
Slc4a8	A	G	15: 100,798,178	H613R	possibly damaging	Het
Smoc2	A	G	17: 14,325,622	R58G	probably damaging	Het
Sphkap	T	A	1: 83,276,300	N1243Y	probably damaging	Het
Srsf5	T	C	12: 80,949,946	S261P	unknown	Het
Tab1	A	T	15: 80,158,798	T398S	possibly damaging	Het
Tas2r131	T	A	6: 132,957,742	T35S	probably benign	Het
Tigd4	T	A	3: 84,595,003	V409E	possibly damaging	Het
Tlr12	T	C	4: 128,616,708	Q583R	probably benign	Het
Tmprss9	T	A	10: 80,897,311	C894S	unknown	Het
Topaz1	T	A	9: 122,749,185	S387T	probably benign	Het
Tsfm	T	C	10: 127,011,689	R178G	probably benign	Het
Ttll13	T	C	7: 80,253,127	I181T	probably damaging	Het
Ttyh3	T	A	5: 140,625,141	K97N		Het
Ubr4	A	G	4: 139,415,083	E38G		Het
Ugt2b37	T	C	5: 87,254,259	Y171C	probably damaging	Het
Unc5b	C	A	10: 60,765,241	M935I	probably benign	Het
Usp34	T	C	11: 23,412,314	S1606P		Het
Vmn1r195	T	C	13: 22,279,074	L238P	probably damaging	Het
Vmn2r85	T	A	10: 130,425,212	M419L	probably benign	Het
Washc2	G	T	6: 116,259,059	A1164S	probably benign	Het
Wdfy3	A	T	5: 101,895,074	M1937K	probably benign	Het
Wdfy3	A	T	5: 101,951,399	L261*	probably null	Het
Wdr64	A	T	1: 175,731,526	Y285F	probably benign	Het
Wtap	A	G	17: 12,980,910	L62P	probably damaging	Het
Zfp94	C	A	7: 24,303,073	V315F	probably benign	Het
Zhx1	A	T	15: 58,048,402		probably null	Het

Other mutations in Osbpl10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Osbpl10	APN	9	115176002	missense	probably benign	0.01
IGL01318:Osbpl10	APN	9	115232122	nonsense	probably null
IGL02023:Osbpl10	APN	9	115226722	missense	probably damaging	1.00
IGL02096:Osbpl10	APN	9	115216994	missense	possibly damaging	0.94
Weeblo	UTSW	9	115207620	missense	probably damaging	1.00
R0534:Osbpl10	UTSW	9	115167178	missense	probably damaging	1.00
R0948:Osbpl10	UTSW	9	115167119	missense	probably damaging	1.00
R1073:Osbpl10	UTSW	9	115207553	nonsense	probably null
R2138:Osbpl10	UTSW	9	115232134	missense	probably benign	0.06
R3709:Osbpl10	UTSW	9	115207587	missense	probably benign	0.11
R3710:Osbpl10	UTSW	9	115207587	missense	probably benign	0.11
R4406:Osbpl10	UTSW	9	115109481	missense	probably damaging	0.96
R4738:Osbpl10	UTSW	9	115216574	missense	probably damaging	1.00
R4778:Osbpl10	UTSW	9	115109530	missense	probably damaging	1.00
R4779:Osbpl10	UTSW	9	115109530	missense	probably damaging	1.00
R5828:Osbpl10	UTSW	9	115061876	missense	probably damaging	0.97
R5874:Osbpl10	UTSW	9	115226760	missense	probably damaging	1.00
R6052:Osbpl10	UTSW	9	115067315	splice site	probably null
R6103:Osbpl10	UTSW	9	115061872	nonsense	probably null
R6174:Osbpl10	UTSW	9	115109487	missense	probably benign	0.00
R6246:Osbpl10	UTSW	9	115226774	missense	probably benign	0.34
R7008:Osbpl10	UTSW	9	115061848	missense	probably damaging	1.00
R7027:Osbpl10	UTSW	9	115223698	missense	probably damaging	0.97
R7182:Osbpl10	UTSW	9	115067251	missense	probably damaging	1.00
R7285:Osbpl10	UTSW	9	115223703	missense	probably damaging	1.00
R7556:Osbpl10	UTSW	9	115207624	missense	probably damaging	1.00
R7853:Osbpl10	UTSW	9	115207658	missense	probably damaging	1.00
R7905:Osbpl10	UTSW	9	115062010	critical splice donor site	probably null
R8100:Osbpl10	UTSW	9	115167254	missense	probably benign
R8376:Osbpl10	UTSW	9	115223593	missense	probably damaging	1.00
R8515:Osbpl10	UTSW	9	115176068	missense	probably benign	0.00
R8537:Osbpl10	UTSW	9	115229909	missense	probably benign	0.13
R8706:Osbpl10	UTSW	9	115207620	missense	probably damaging	1.00
R9021:Osbpl10	UTSW	9	114978871	missense	unknown
R9022:Osbpl10	UTSW	9	114978871	missense	unknown
R9071:Osbpl10	UTSW	9	115061840	missense	probably benign	0.00
R9192:Osbpl10	UTSW	9	115167226	missense	probably damaging	1.00
R9198:Osbpl10	UTSW	9	115232143	nonsense	probably null
R9729:Osbpl10	UTSW	9	115223736	missense	probably damaging	0.97
R9771:Osbpl10	UTSW	9	115067288	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGGATCCTCTCTGCTATCACAG -3'
(R):5'- AGGTATCTCCCCACAGAAGAG -3'

Sequencing Primer
(F):5'- TGCTATCACAGTTGATACCCTATTG -3'
(R):5'- CAGAAGAGCTGCCGATCAG -3'

Posted On

2019-11-26