Mutagenetix > Incidental Mutation

Incidental Mutation 'R7905:Osbpl10'

610226

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 #

R7905 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114978569-115232225 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 115062010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138760 (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 null
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 null
Transcript: ENSMUST00000182920

Predicted Effect

probably null
Transcript: ENSMUST00000183104

SMART Domains

Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875

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 null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,296,102	I358T	probably benign	Het
Actl9	T	C	17: 33,433,827	V287A	possibly damaging	Het
Adcy10	T	A	1: 165,513,168		probably null	Het
Aox1	G	A	1: 58,104,398	S1225N	possibly damaging	Het
B430306N03Rik	T	A	17: 48,316,960	S96R	probably benign	Het
Bpifa5	T	C	2: 154,165,588	I150T	probably damaging	Het
Ccdc28a	A	T	10: 18,218,328	V181D	probably benign	Het
Cd40	T	C	2: 165,062,325	Y31H	probably damaging	Het
Cep290	A	G	10: 100,554,490	T2032A	probably benign	Het
Cnbd1	T	C	4: 18,907,100	K158R	possibly damaging	Het
Degs1	A	C	1: 182,279,036	N255K	possibly damaging	Het
Dirc2	G	A	16: 35,768,950	P98S	probably benign	Het
Dll3	T	G	7: 28,301,535	I32L	possibly damaging	Het
Dsg4	A	T	18: 20,454,669	I278F	probably damaging	Het
Ets2	T	A	16: 95,706,437	I6N	probably damaging	Het
Gbp4	A	G	5: 105,121,087	F400S	probably damaging	Het
Golgb1	C	T	16: 36,913,685	A1139V	probably benign	Het
Hfm1	A	T	5: 106,898,553	L489H	probably damaging	Het
Kcna5	T	C	6: 126,534,868	D99G	probably benign	Het
Ldhc	A	G	7: 46,875,531		probably null	Het
Mief1	C	G	15: 80,249,398	P219A	probably damaging	Het
Myh11	A	T	16: 14,207,681	Y1408*	probably null	Het
Myo1b	A	G	1: 51,763,884		probably null	Het
Nedd4	A	T	9: 72,677,379	K121*	probably null	Het
Nek9	A	C	12: 85,305,596	M831R	probably damaging	Het
Nf1	G	A	11: 79,547,112	A83T	possibly damaging	Het
Olfr772	A	T	10: 129,174,187	I278N	probably damaging	Het
Pcdhb6	T	C	18: 37,334,554	L176P	probably benign	Het
Plxnb1	G	A	9: 109,109,232	V1285M	probably damaging	Het
Psg26	T	A	7: 18,475,317	M389L	probably benign	Het
Slc4a10	A	G	2: 62,268,151	E543G	probably damaging	Het
Spink7	G	T	18: 62,592,416	C85*	probably null	Het
Stard9	T	C	2: 120,696,081	W940R	not run	Het
Susd2	A	T	10: 75,639,657	L471*	probably null	Het
Taf2	A	T	15: 55,047,432	D615E	possibly damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tfdp2	T	C	9: 96,310,606	S14P		Het
Tha1	A	C	11: 117,871,067	V116G	possibly damaging	Het
Trim46	T	C	3: 89,244,326	H50R	probably damaging	Het
Trit1	A	G	4: 123,016,715	K36E	probably damaging	Het
Ttc13	A	T	8: 124,688,596	M268K	probably benign	Het
Ufc1	T	A	1: 171,289,935	K68N	probably damaging	Het
Zbbx	T	C	3: 75,085,513	T225A	probably benign	Het
Zfp768	T	C	7: 127,344,659	E102G	probably damaging	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
R7810:Osbpl10	UTSW	9	115061894	missense	probably benign	0.01
R7853:Osbpl10	UTSW	9	115207658	missense	probably damaging	1.00
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'- GAGAGAAGTCATGTGCTGTCTTTC -3'
(R):5'- TGTTCTTCAGATTCCCAAGTGG -3'

Sequencing Primer
(F):5'- AGAAGTCATGTGCTGTCTTTCTGTTC -3'
(R):5'- GTGTACATGTGTTCACCAATGC -3'

Posted On

2019-12-20