Mutagenetix > Incidental Mutation

Incidental Mutation 'R7615:Osbpl9'

588819

Institutional Source

Beutler Lab

Gene Symbol

Osbpl9

Ensembl Gene

ENSMUSG00000028559

Gene Name

oxysterol binding protein-like 9

Synonyms

ORP-9, 2600011I06Rik

MMRRC Submission

045683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109061145-109202272 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 109086339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 159 (P159S)

Ref Sequence

ENSEMBL: ENSMUSP00000081396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030288] [ENSMUST00000084366] [ENSMUST00000159545] [ENSMUST00000160271] [ENSMUST00000160774] [ENSMUST00000161363] [ENSMUST00000162787] [ENSMUST00000194478]

AlphaFold

A2A8Z1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030288
AA Change: P256S

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

SMART Domains

Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: P256S

Domain	Start	End	E-Value	Type
PH	3	101	8.5e-17	SMART
low complexity region	253	274	N/A	INTRINSIC
low complexity region	285	301	N/A	INTRINSIC
low complexity region	349	362	N/A	INTRINSIC
Pfam:Oxysterol_BP	377	729	7.3e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000084366
AA Change: P159S

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

SMART Domains

Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: P159S

Domain	Start	End	E-Value	Type
low complexity region	156	177	N/A	INTRINSIC
low complexity region	188	204	N/A	INTRINSIC
low complexity region	252	265	N/A	INTRINSIC
Pfam:Oxysterol_BP	277	634	7.2e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159545

SMART Domains

Protein: ENSMUSP00000123856
Gene: ENSMUSG00000028559

Domain	Start	End	E-Value	Type
Blast:PH	3	54	6e-33	BLAST
SCOP:d1pls__	4	46	9e-8	SMART
PDB:2KCJ\|A	4	55	1e-10	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000160271
AA Change: P146S

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

SMART Domains

Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: P146S

Domain	Start	End	E-Value	Type
low complexity region	143	164	N/A	INTRINSIC
low complexity region	175	191	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
Pfam:Oxysterol_BP	264	621	4.7e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160774
AA Change: P239S

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

SMART Domains

Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: P239S

Domain	Start	End	E-Value	Type
PH	3	84	6.46e-8	SMART
low complexity region	236	257	N/A	INTRINSIC
low complexity region	268	284	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
Pfam:Oxysterol_BP	357	714	2.8e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161363
AA Change: P176S

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

SMART Domains

Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: P176S

Domain	Start	End	E-Value	Type
Blast:PH	13	34	3e-6	BLAST
low complexity region	173	194	N/A	INTRINSIC
low complexity region	205	221	N/A	INTRINSIC
low complexity region	269	282	N/A	INTRINSIC
Pfam:Oxysterol_BP	294	651	2.2e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162787
AA Change: P243S

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

SMART Domains

Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: P243S

Domain	Start	End	E-Value	Type
PH	3	101	8.5e-17	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	272	288	N/A	INTRINSIC
low complexity region	336	349	N/A	INTRINSIC
Pfam:Oxysterol_BP	361	718	2.8e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000194478
AA Change: P266S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: P266S

Domain	Start	End	E-Value	Type
PH	3	101	3.7e-19	SMART
low complexity region	263	284	N/A	INTRINSIC
low complexity region	295	311	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC
Pfam:Oxysterol_BP	384	741	2e-79	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (101/101)

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. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,497,849 (GRCm38)	I320V	possibly damaging	Het
Adat2	A	G	10: 13,553,276 (GRCm38)	K4R	probably benign	Het
Adgb	G	A	10: 10,436,010 (GRCm38)	L226F	probably damaging	Het
Adgrb3	C	T	1: 25,098,897 (GRCm38)	V1192I	probably damaging	Het
Ahsa2	T	A	11: 23,496,750 (GRCm38)	N71I	possibly damaging	Het
Amigo2	T	G	15: 97,245,342 (GRCm38)	T400P	probably damaging	Het
Ankhd1	A	T	18: 36,656,773 (GRCm38)	Q466L		Het
Auh	T	C	13: 52,919,013 (GRCm38)	I111V	probably benign	Het
Brwd1	A	G	16: 96,033,839 (GRCm38)	F942L	probably damaging	Het
C1qtnf7	A	G	5: 43,616,144 (GRCm38)	N262D	probably damaging	Het
Cdh9	T	A	15: 16,856,230 (GRCm38)	S785R	probably damaging	Het
Celsr3	A	G	9: 108,837,652 (GRCm38)	T2046A	possibly damaging	Het
Cep170b	T	C	12: 112,744,665 (GRCm38)	V1493A	probably damaging	Het
Cep290	C	T	10: 100,492,681 (GRCm38)	R111W	probably benign	Het
Chd2	T	A	7: 73,441,642 (GRCm38)	H1617L	probably damaging	Het
Clnk	T	C	5: 38,706,698 (GRCm38)	D404G	probably damaging	Het
Col18a1	C	T	10: 77,067,005 (GRCm38)	G795D	probably damaging	Het
Csf3r	T	A	4: 126,037,656 (GRCm38)	Y477*	probably null	Het
Ddx58	T	A	4: 40,229,653 (GRCm38)	I89F	possibly damaging	Het
Dnah17	T	A	11: 118,110,547 (GRCm38)	K857*	probably null	Het
Dnah2	T	G	11: 69,435,304 (GRCm38)	I3674L	probably damaging	Het
Dnah6	A	C	6: 73,095,206 (GRCm38)	I2431S	possibly damaging	Het
Eml6	T	A	11: 29,802,501 (GRCm38)	I971F	possibly damaging	Het
Fam135b	A	T	15: 71,463,323 (GRCm38)	I674N	probably damaging	Het
Fancc	T	A	13: 63,317,558 (GRCm38)		probably null	Het
Gabrb2	A	C	11: 42,626,742 (GRCm38)	K464Q	probably benign	Het
Gbp4	T	A	5: 105,122,982 (GRCm38)	D261V	possibly damaging	Het
Gdf3	A	G	6: 122,606,916 (GRCm38)	V164A	probably benign	Het
Gm19410	A	G	8: 35,796,359 (GRCm38)	D978G	probably damaging	Het
Gm20730	C	T	6: 43,081,774 (GRCm38)	G35R	probably null	Het
Gm9733	A	G	3: 15,320,485 (GRCm38)	V119A	probably damaging	Het
Grin2b	G	A	6: 135,923,364 (GRCm38)	T173I	probably damaging	Het
Gtf3c3	A	T	1: 54,423,572 (GRCm38)	V344E	possibly damaging	Het
Hsd3b5	A	G	3: 98,630,104 (GRCm38)	I32T	probably damaging	Het
Ido1	G	C	8: 24,593,188 (GRCm38)	L74V	probably damaging	Het
Igkv1-88	T	A	6: 68,862,373 (GRCm38)	D85V	probably damaging	Het
Il22ra1	A	G	4: 135,737,459 (GRCm38)	I159V	probably benign	Het
Iqgap1	A	G	7: 80,751,346 (GRCm38)	V531A	probably benign	Het
Iqgap1	A	T	7: 80,730,100 (GRCm38)	F1175Y	probably damaging	Het
Itga1	T	A	13: 114,996,922 (GRCm38)	Q484L	probably null	Het
Itga11	A	T	9: 62,744,018 (GRCm38)	E281V	probably benign	Het
Kpna3	T	C	14: 61,372,962 (GRCm38)	N343S	possibly damaging	Het
Larp1b	A	G	3: 41,035,816 (GRCm38)	N133S	probably benign	Het
Larp1b	A	G	3: 41,033,534 (GRCm38)	K64E	possibly damaging	Het
Lctl	T	A	9: 64,122,110 (GRCm38)	L161H	probably damaging	Het
Mlip	A	G	9: 77,230,483 (GRCm38)	S381P	probably damaging	Het
Mroh9	A	G	1: 163,046,032 (GRCm38)	I518T	probably benign	Het
Mst1r	A	G	9: 107,920,012 (GRCm38)	Q1360R	probably benign	Het
Muc5b	T	A	7: 141,864,892 (GRCm38)	C3858*	probably null	Het
Naip1	A	T	13: 100,425,776 (GRCm38)	H960Q	probably benign	Het
Narfl	C	T	17: 25,782,129 (GRCm38)	P452S	probably benign	Het
Neo1	A	T	9: 58,884,503 (GRCm38)	S1321T	probably benign	Het
Nid2	C	A	14: 19,802,530 (GRCm38)	T1102K	probably damaging	Het
Nsmaf	C	T	4: 6,408,563 (GRCm38)	V739M	probably damaging	Het
Olfr1019	T	A	2: 85,841,657 (GRCm38)	M45L	probably benign	Het
Olfr1167	T	C	2: 88,149,518 (GRCm38)	Q167R	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,590 (GRCm38)	I156T	probably damaging	Het
Olfr727	T	G	14: 50,126,989 (GRCm38)	S137R	probably benign	Het
Olfr97	T	G	17: 37,231,450 (GRCm38)	K307Q	probably benign	Het
Parpbp	A	G	10: 88,093,637 (GRCm38)	S450P	probably damaging	Het
Pdgfrb	A	G	18: 61,064,046 (GRCm38)	T185A	probably benign	Het
Pkd1	T	C	17: 24,593,502 (GRCm38)	V3803A	probably damaging	Het
Plau	A	T	14: 20,839,466 (GRCm38)	K200*	probably null	Het
Plce1	A	T	19: 38,524,665 (GRCm38)	Q136L	probably benign	Het
Plekhd1	C	T	12: 80,722,445 (GRCm38)	T493I	probably benign	Het
Pofut1	T	C	2: 153,259,418 (GRCm38)	S31P	unknown	Het
Prlr	T	A	15: 10,325,924 (GRCm38)	I243N	probably damaging	Het
Ptgis	A	G	2: 167,223,988 (GRCm38)	L174P	probably damaging	Het
Ralgapb	T	A	2: 158,450,270 (GRCm38)	I792K	probably damaging	Het
Retreg3	C	T	11: 101,102,980 (GRCm38)	S136N	probably damaging	Het
Rnf213	C	T	11: 119,467,297 (GRCm38)	T4291M		Het
Rtn1	A	G	12: 72,304,143 (GRCm38)	Y431H	probably damaging	Het
Rwdd3	A	G	3: 121,171,604 (GRCm38)		probably benign	Het
Scyl3	A	T	1: 163,950,338 (GRCm38)		probably null	Het
Sh2b2	G	T	5: 136,219,657 (GRCm38)	Q510K	probably damaging	Het
Sh2b3	G	A	5: 121,818,700 (GRCm38)	P333S	probably benign	Het
Slc27a6	A	T	18: 58,609,183 (GRCm38)	N490Y	probably damaging	Het
Slc45a1	C	T	4: 150,638,545 (GRCm38)	R294Q	probably benign	Het
Sorl1	A	C	9: 41,977,582 (GRCm38)	I1974S	possibly damaging	Het
Specc1l	C	A	10: 75,263,286 (GRCm38)	N857K	probably benign	Het
Speg	T	C	1: 75,429,242 (GRCm38)	L3030P	probably damaging	Het
Spsb1	A	C	4: 149,906,900 (GRCm38)	D70E	probably benign	Het
Srsf11	A	G	3: 158,016,425 (GRCm38)	S270P	unknown	Het
Ssr3	A	C	3: 65,387,792 (GRCm38)	V100G	probably damaging	Het
Synpo	G	A	18: 60,604,475 (GRCm38)	T133I	probably damaging	Het
Tas2r120	T	G	6: 132,657,810 (GRCm38)	V285G	probably benign	Het
Tenm4	T	A	7: 96,845,926 (GRCm38)	V1187D	probably damaging	Het
Tmed8	C	A	12: 87,181,388 (GRCm38)		probably null	Het
Tmem51	G	A	4: 142,037,564 (GRCm38)	T61M	probably damaging	Het
Tonsl	A	T	15: 76,630,607 (GRCm38)	D1132E	probably benign	Het
Tor1aip1	C	T	1: 156,007,584 (GRCm38)	V358I	possibly damaging	Het
Txlna	A	T	4: 129,630,319 (GRCm38)	M415K	probably damaging	Het
Tyms	T	A	5: 30,073,560 (GRCm38)		probably benign	Het
Uggt2	G	T	14: 119,089,269 (GRCm38)	L177I	probably benign	Het
Uqcrh	T	C	4: 116,069,879 (GRCm38)	H74R	probably benign	Het
Wnk1	A	T	6: 119,932,738 (GRCm38)	S33T	probably benign	Het
Zfp553	T	A	7: 127,236,016 (GRCm38)	C248S	probably damaging	Het
Zfp574	G	A	7: 25,080,576 (GRCm38)	C341Y	possibly damaging	Het
Zfp729b	T	C	13: 67,591,498 (GRCm38)	T883A	possibly damaging	Het
Zfp738	T	A	13: 67,670,203 (GRCm38)	K556N	probably damaging	Het

Other mutations in Osbpl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00722:Osbpl9	APN	4	109,072,010 (GRCm38)	missense	probably damaging	1.00
IGL00793:Osbpl9	APN	4	109,087,431 (GRCm38)	missense	probably damaging	0.99
IGL00809:Osbpl9	APN	4	109,133,763 (GRCm38)	missense	probably damaging	1.00
IGL02071:Osbpl9	APN	4	109,071,979 (GRCm38)	missense	probably damaging	1.00
IGL02547:Osbpl9	APN	4	109,068,483 (GRCm38)	nonsense	probably null
IGL02822:Osbpl9	APN	4	109,072,921 (GRCm38)	missense	probably damaging	1.00
IGL03074:Osbpl9	APN	4	109,071,961 (GRCm38)	missense	probably damaging	1.00
IGL03193:Osbpl9	APN	4	109,066,966 (GRCm38)	missense	possibly damaging	0.90
IGL03196:Osbpl9	APN	4	109,072,864 (GRCm38)	missense	probably damaging	1.00
IGL03306:Osbpl9	APN	4	109,172,332 (GRCm38)	splice site	probably benign
IGL03323:Osbpl9	APN	4	109,062,459 (GRCm38)	splice site	probably benign
Oblong	UTSW	4	109,091,679 (GRCm38)	missense	possibly damaging	0.62
R0211:Osbpl9	UTSW	4	109,073,124 (GRCm38)	missense	probably damaging	1.00
R0368:Osbpl9	UTSW	4	109,066,932 (GRCm38)	missense	probably damaging	1.00
R0620:Osbpl9	UTSW	4	109,083,128 (GRCm38)	missense	probably damaging	1.00
R1439:Osbpl9	UTSW	4	109,101,156 (GRCm38)	missense	probably damaging	1.00
R1711:Osbpl9	UTSW	4	109,066,218 (GRCm38)	missense	probably damaging	1.00
R1757:Osbpl9	UTSW	4	109,064,583 (GRCm38)	missense	probably damaging	1.00
R2237:Osbpl9	UTSW	4	109,156,657 (GRCm38)	missense	probably damaging	1.00
R2295:Osbpl9	UTSW	4	109,202,134 (GRCm38)	missense	probably damaging	0.99
R2418:Osbpl9	UTSW	4	109,066,218 (GRCm38)	missense	probably damaging	1.00
R3111:Osbpl9	UTSW	4	109,083,093 (GRCm38)	missense	probably benign	0.08
R4202:Osbpl9	UTSW	4	109,172,240 (GRCm38)	intron	probably benign
R4672:Osbpl9	UTSW	4	109,064,609 (GRCm38)	missense	possibly damaging	0.82
R4706:Osbpl9	UTSW	4	109,156,687 (GRCm38)	missense	probably damaging	1.00
R4856:Osbpl9	UTSW	4	109,068,367 (GRCm38)	missense	probably benign	0.38
R4886:Osbpl9	UTSW	4	109,068,367 (GRCm38)	missense	probably benign	0.38
R5035:Osbpl9	UTSW	4	109,066,167 (GRCm38)	missense	probably damaging	0.99
R5309:Osbpl9	UTSW	4	109,066,155 (GRCm38)	missense	probably damaging	1.00
R5400:Osbpl9	UTSW	4	109,062,300 (GRCm38)	nonsense	probably null
R5719:Osbpl9	UTSW	4	109,062,566 (GRCm38)	nonsense	probably null
R5810:Osbpl9	UTSW	4	109,086,374 (GRCm38)	missense	probably benign	0.00
R6237:Osbpl9	UTSW	4	109,156,702 (GRCm38)	missense	probably damaging	1.00
R6575:Osbpl9	UTSW	4	109,072,932 (GRCm38)	missense	possibly damaging	0.89
R6648:Osbpl9	UTSW	4	109,091,679 (GRCm38)	missense	possibly damaging	0.62
R6675:Osbpl9	UTSW	4	109,133,828 (GRCm38)	splice site	probably null
R7130:Osbpl9	UTSW	4	109,083,099 (GRCm38)	missense	probably benign
R7356:Osbpl9	UTSW	4	109,068,480 (GRCm38)	nonsense	probably null
R7753:Osbpl9	UTSW	4	109,133,773 (GRCm38)	missense	possibly damaging	0.86
R7772:Osbpl9	UTSW	4	109,066,187 (GRCm38)	missense	probably damaging	0.99
R7788:Osbpl9	UTSW	4	109,062,494 (GRCm38)	missense	probably benign	0.41
R8083:Osbpl9	UTSW	4	109,086,375 (GRCm38)	missense	possibly damaging	0.74
R8143:Osbpl9	UTSW	4	109,065,709 (GRCm38)	missense	probably benign	0.12
R8323:Osbpl9	UTSW	4	109,107,922 (GRCm38)	missense	probably benign	0.01
R8331:Osbpl9	UTSW	4	109,066,181 (GRCm38)	missense	probably damaging	1.00
R8406:Osbpl9	UTSW	4	109,064,573 (GRCm38)	missense	possibly damaging	0.82
R8531:Osbpl9	UTSW	4	109,156,711 (GRCm38)	missense	probably damaging	1.00
R8715:Osbpl9	UTSW	4	109,102,576 (GRCm38)	missense	probably benign	0.21
R8888:Osbpl9	UTSW	4	109,073,136 (GRCm38)	missense	probably benign	0.03
R8895:Osbpl9	UTSW	4	109,073,136 (GRCm38)	missense	probably benign	0.03
R9079:Osbpl9	UTSW	4	109,063,447 (GRCm38)	missense	possibly damaging	0.48
R9379:Osbpl9	UTSW	4	109,083,202 (GRCm38)	missense	probably damaging	0.99
R9775:Osbpl9	UTSW	4	109,156,550 (GRCm38)	intron	probably benign
Z1177:Osbpl9	UTSW	4	109,107,880 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTGGCTCAATTACAAAACTACCC -3'
(R):5'- TGATGCTCAGAGTGTCAGGG -3'

Sequencing Primer
(F):5'- CACTTTAAGGTGGACTGCAATG -3'
(R):5'- ACTGAGAGGCTGGAGGC -3'

Posted On

2019-10-24