Mutagenetix > Incidental Mutation

Incidental Mutation 'R2504:Osbpl1a'

252282

Institutional Source

Beutler Lab

Gene Symbol

Osbpl1a

Ensembl Gene

ENSMUSG00000044252

Gene Name

oxysterol binding protein-like 1A

Synonyms

LOC328902, G430090F17Rik

MMRRC Submission

040412-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R2504 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12755314-12941841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12905031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 288 (V288L)

Ref Sequence

ENSEMBL: ENSMUSP00000073957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000122175] [ENSMUST00000147197]

AlphaFold

Q91XL9

Predicted Effect

probably benign
Transcript: ENSMUST00000074352
AA Change: V288L

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: V288L

Domain	Start	End	E-Value	Type
ANK	47	76	2.05e-6	SMART
ANK	80	109	1.29e-3	SMART
low complexity region	141	153	N/A	INTRINSIC
ANK	175	204	1.31e-4	SMART
PH	236	336	6.02e-8	SMART
low complexity region	345	354	N/A	INTRINSIC
coiled coil region	430	463	N/A	INTRINSIC
Pfam:Oxysterol_BP	548	940	6.7e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122175
AA Change: V288L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113491
Gene: ENSMUSG00000044252
AA Change: V288L

Domain	Start	End	E-Value	Type
ANK	47	76	2.05e-6	SMART
ANK	80	109	1.29e-3	SMART
low complexity region	141	153	N/A	INTRINSIC
ANK	175	204	1.31e-4	SMART
PH	236	335	3.63e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132594

Predicted Effect

probably benign
Transcript: ENSMUST00000147197

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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. 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. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,219,216	E1750K	probably damaging	Het
4933425L06Rik	A	G	13: 105,109,742	I270M	probably benign	Het
Aatk	T	C	11: 120,018,855	D28G	probably benign	Het
Abcg1	T	A	17: 31,092,395	S125T	probably damaging	Het
Actbl2	T	C	13: 111,256,183	S351P	possibly damaging	Het
Ankrd34b	A	G	13: 92,439,061		probably null	Het
BC030867	T	C	11: 102,255,296	Y133H	possibly damaging	Het
BC051665	C	T	13: 60,782,654	V295I	probably benign	Het
C1qtnf2	A	G	11: 43,491,156	N265S	probably damaging	Het
Ccdc14	C	T	16: 34,721,850	R573*	probably null	Het
Cd55b	A	T	1: 130,409,875	Y247N	probably damaging	Het
Celsr2	A	T	3: 108,413,591	V635E	probably benign	Het
Clec16a	T	C	16: 10,559,687		probably benign	Het
Clec4b1	A	G	6: 123,065,945	Y41C	probably damaging	Het
Cntn5	A	T	9: 10,172,121	D19E	probably benign	Het
Cop1	A	G	1: 159,232,805	N53S	probably damaging	Het
Csad	A	T	15: 102,188,667	M1K	probably null	Het
Cyb5rl	A	G	4: 107,080,945	I200V	probably benign	Het
Cyp26a1	A	G	19: 37,698,342	T81A	probably damaging	Het
Cyp2d12	A	T	15: 82,559,036	H433L	probably benign	Het
D7Ertd443e	T	A	7: 134,349,479		probably null	Het
Dennd1b	A	G	1: 139,170,170		probably benign	Het
Dmap1	G	T	4: 117,675,298	T357K	probably damaging	Het
Dzip1	G	T	14: 118,881,044	T759K	probably benign	Het
Elmo2	A	G	2: 165,298,687	V300A	probably damaging	Het
Eml5	T	C	12: 98,844,105	D864G	possibly damaging	Het
Ep400	A	G	5: 110,668,645	V2670A	probably damaging	Het
Epha3	T	A	16: 63,603,625	I534F	probably damaging	Het
Epha4	A	C	1: 77,382,991	Y742D	probably damaging	Het
Ergic2	A	G	6: 148,204,774		probably null	Het
Ero1l	A	T	14: 45,299,088		probably null	Het
Fam229a	A	G	4: 129,491,486	D70G	probably damaging	Het
Fbn2	C	T	18: 58,093,359	R781Q	probably damaging	Het
Fbxo16	A	T	14: 65,270,714		probably benign	Het
Fbxo39	T	A	11: 72,317,285	S154R	probably benign	Het
Fer	T	A	17: 63,991,580		probably null	Het
Filip1l	A	G	16: 57,570,662	I538V	possibly damaging	Het
Filip1l	A	T	16: 57,571,047	D428V	probably damaging	Het
Fsip2	T	C	2: 82,979,610	I2091T	possibly damaging	Het
Glyat	A	C	19: 12,651,398	T186P	possibly damaging	Het
Gm10604	A	G	4: 11,980,083	S74P	unknown	Het
Gm4787	T	G	12: 81,379,137	K82N	possibly damaging	Het
Hectd4	T	C	5: 121,220,620	I50T	unknown	Het
Hectd4	T	C	5: 121,263,967	S373P	possibly damaging	Het
Hmcn1	A	T	1: 150,686,867	C2313*	probably null	Het
Igfn1	A	T	1: 135,969,316	S1171T	probably benign	Het
Ints8	T	C	4: 11,241,642	D267G	probably benign	Het
Itln1	A	G	1: 171,529,159	C251R	probably damaging	Het
Jcad	C	T	18: 4,674,026	T596M	probably damaging	Het
Kcnj16	C	T	11: 111,025,583	T357M	probably benign	Het
Kif13a	G	A	13: 46,814,200	T346M	probably damaging	Het
Klhl24	G	A	16: 20,120,167	A491T	probably benign	Het
Kntc1	C	T	5: 123,778,347	Q748*	probably null	Het
Krt25	T	A	11: 99,317,296	K369*	probably null	Het
Krt75	C	T	15: 101,568,031	R433Q	probably benign	Het
Krt76	A	G	15: 101,884,858	F582L	unknown	Het
Lysmd1	G	A	3: 95,138,397	V182I	probably benign	Het
Mab21l2	T	A	3: 86,547,555	E46V	probably damaging	Het
Magi2	A	T	5: 20,358,936	K355N	probably damaging	Het
March10	T	C	11: 105,385,572	D630G	probably damaging	Het
Mast4	A	T	13: 102,738,639	I1215N	probably damaging	Het
Nckap1	G	A	2: 80,530,218	T523I	probably benign	Het
Nexmif	T	A	X: 104,084,393	D1306V	probably damaging	Het
Nfkb1	A	C	3: 135,589,329	I918R	possibly damaging	Het
Nup50	A	T	15: 84,933,658	T93S	probably benign	Het
Nwd2	T	C	5: 63,804,374	Y434H	probably benign	Het
Olfr61	T	C	7: 140,638,484	V261A	probably benign	Het
Pan3	A	G	5: 147,527,036	E562G	possibly damaging	Het
Pappa	T	A	4: 65,180,889	Y548*	probably null	Het
Phf3	A	T	1: 30,810,789	L1181Q	probably damaging	Het
Phip	T	C	9: 82,915,339	H537R	possibly damaging	Het
Pkhd1l1	T	C	15: 44,485,428	I240T	probably damaging	Het
Pole	G	A	5: 110,290,502		probably null	Het
Polq	T	A	16: 37,011,942	S15T	unknown	Het
Prrt2	T	C	7: 127,020,224	E23G	possibly damaging	Het
Prss37	A	T	6: 40,517,826		probably null	Het
Prune2	T	C	19: 17,000,036	L45P	probably damaging	Het
Psd	A	T	19: 46,324,913	M6K	possibly damaging	Het
Psmd1	A	G	1: 86,089,997	E510G	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Pxdn	T	A	12: 30,003,406	I1194N	probably damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rgmb	C	A	17: 15,807,647	R270L	probably benign	Het
Rpgrip1l	A	G	8: 91,280,716		probably null	Het
Rps2	G	A	17: 24,720,379		probably benign	Het
Rsbn1l	G	T	5: 20,902,366	A550E	probably damaging	Het
S1pr4	C	T	10: 81,499,304	R112H	probably benign	Het
Scfd2	T	C	5: 74,531,177	N148S	probably damaging	Het
Scin	C	T	12: 40,081,706	M276I	probably benign	Het
Sec24d	T	C	3: 123,353,606	I708T	possibly damaging	Het
Skint11	T	A	4: 114,228,812	F41I	possibly damaging	Het
Slc15a4	A	T	5: 127,617,239	F44Y	possibly damaging	Het
Slc6a18	A	G	13: 73,675,806	Y72H	probably benign	Het
Slc7a11	A	T	3: 50,377,746		probably null	Het
Slc7a14	G	T	3: 31,237,501	N209K	possibly damaging	Het
Sstr2	T	C	11: 113,624,431	C59R	probably damaging	Het
Stab1	A	G	14: 31,163,040		probably null	Het
Stag1	G	T	9: 100,866,210	S475I	probably damaging	Het
Stxbp5l	A	G	16: 37,115,667	Y1183H	probably damaging	Het
Svep1	A	T	4: 58,135,628		probably null	Het
Tm9sf2	A	G	14: 122,158,684	T653A	probably benign	Het
Tmeff1	T	C	4: 48,662,059	S366P	possibly damaging	Het
Tnnt2	G	T	1: 135,852,065	W300L	probably damaging	Het
Traj32	A	G	14: 54,186,103		probably benign	Het
Trp53bp2	A	T	1: 182,441,639	M223L	probably benign	Het
Tsga10	G	A	1: 37,815,677	T246M	probably damaging	Het
Txn2	A	T	15: 77,926,670		probably benign	Het
Ubr3	T	A	2: 69,938,198	F450I	probably damaging	Het
Usp47	T	C	7: 112,104,470		probably null	Het
Vars2	C	T	17: 35,664,793	R244Q	probably damaging	Het
Xrra1	T	A	7: 99,897,596	F251L	probably damaging	Het
Zfp804a	G	A	2: 82,257,519	R564Q	probably benign	Het
Zfp983	T	C	17: 21,658,967	C29R	probably damaging	Het

Other mutations in Osbpl1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Osbpl1a	APN	18	12,757,626 (GRCm38)	missense	possibly damaging	0.51
IGL01062:Osbpl1a	APN	18	12,905,075 (GRCm38)	missense	probably benign
IGL01450:Osbpl1a	APN	18	12,871,095 (GRCm38)	missense	possibly damaging	0.88
IGL01531:Osbpl1a	APN	18	12,933,581 (GRCm38)	missense	probably damaging	1.00
IGL01548:Osbpl1a	APN	18	12,763,575 (GRCm38)	missense	probably damaging	1.00
IGL01606:Osbpl1a	APN	18	12,756,214 (GRCm38)	missense	possibly damaging	0.79
IGL01672:Osbpl1a	APN	18	12,766,824 (GRCm38)	missense	probably damaging	1.00
IGL02372:Osbpl1a	APN	18	12,841,313 (GRCm38)	nonsense	probably null
IGL02451:Osbpl1a	APN	18	12,914,493 (GRCm38)	splice site	probably benign
IGL02490:Osbpl1a	APN	18	12,882,284 (GRCm38)	unclassified	probably benign
IGL02884:Osbpl1a	APN	18	12,819,578 (GRCm38)	nonsense	probably null
R0084:Osbpl1a	UTSW	18	12,757,612 (GRCm38)	missense	probably benign	0.07
R0266:Osbpl1a	UTSW	18	12,871,163 (GRCm38)	splice site	probably null
R0565:Osbpl1a	UTSW	18	12,759,444 (GRCm38)	missense	probably damaging	1.00
R0605:Osbpl1a	UTSW	18	12,882,279 (GRCm38)	critical splice acceptor site	probably null
R0899:Osbpl1a	UTSW	18	12,757,690 (GRCm38)	missense	possibly damaging	0.70
R1330:Osbpl1a	UTSW	18	12,882,194 (GRCm38)	critical splice donor site	probably null
R1464:Osbpl1a	UTSW	18	12,914,558 (GRCm38)	missense	probably benign
R1464:Osbpl1a	UTSW	18	12,914,558 (GRCm38)	missense	probably benign
R1475:Osbpl1a	UTSW	18	12,757,680 (GRCm38)	missense	probably damaging	1.00
R1495:Osbpl1a	UTSW	18	12,758,839 (GRCm38)	missense	probably benign	0.08
R1734:Osbpl1a	UTSW	18	12,788,316 (GRCm38)	splice site	probably null
R1930:Osbpl1a	UTSW	18	12,905,194 (GRCm38)	missense	probably benign	0.04
R1931:Osbpl1a	UTSW	18	12,905,194 (GRCm38)	missense	probably benign	0.04
R2109:Osbpl1a	UTSW	18	12,759,400 (GRCm38)	missense	probably damaging	1.00
R2144:Osbpl1a	UTSW	18	12,871,173 (GRCm38)	missense	probably benign	0.06
R2762:Osbpl1a	UTSW	18	12,766,899 (GRCm38)	missense	possibly damaging	0.83
R2907:Osbpl1a	UTSW	18	12,871,072 (GRCm38)	unclassified	probably benign
R4306:Osbpl1a	UTSW	18	12,819,595 (GRCm38)	missense	probably benign
R4835:Osbpl1a	UTSW	18	12,768,536 (GRCm38)	critical splice donor site	probably null
R5097:Osbpl1a	UTSW	18	12,763,537 (GRCm38)	missense	probably damaging	1.00
R5173:Osbpl1a	UTSW	18	12,762,640 (GRCm38)	missense	probably benign	0.12
R5224:Osbpl1a	UTSW	18	12,933,696 (GRCm38)	missense	probably benign	0.01
R5245:Osbpl1a	UTSW	18	12,758,853 (GRCm38)	missense	probably damaging	1.00
R5579:Osbpl1a	UTSW	18	12,892,262 (GRCm38)	missense	probably benign	0.22
R5579:Osbpl1a	UTSW	18	12,841,192 (GRCm38)	missense	probably damaging	1.00
R5833:Osbpl1a	UTSW	18	12,788,362 (GRCm38)	missense	probably damaging	1.00
R5986:Osbpl1a	UTSW	18	12,905,081 (GRCm38)	missense	probably damaging	1.00
R6267:Osbpl1a	UTSW	18	12,819,503 (GRCm38)	critical splice donor site	probably null
R6296:Osbpl1a	UTSW	18	12,819,503 (GRCm38)	critical splice donor site	probably null
R6477:Osbpl1a	UTSW	18	12,756,261 (GRCm38)	missense	probably benign	0.03
R6997:Osbpl1a	UTSW	18	12,756,224 (GRCm38)	missense	probably benign	0.05
R7105:Osbpl1a	UTSW	18	12,766,963 (GRCm38)	missense	probably benign	0.17
R7107:Osbpl1a	UTSW	18	12,841,253 (GRCm38)	nonsense	probably null
R7154:Osbpl1a	UTSW	18	12,768,592 (GRCm38)	missense	probably benign	0.00
R7459:Osbpl1a	UTSW	18	12,933,585 (GRCm38)	missense	probably damaging	1.00
R7757:Osbpl1a	UTSW	18	12,933,600 (GRCm38)	missense	probably benign	0.44
R7797:Osbpl1a	UTSW	18	12,882,264 (GRCm38)	missense	probably damaging	0.99
R8029:Osbpl1a	UTSW	18	12,914,521 (GRCm38)	missense	probably benign	0.01
R8084:Osbpl1a	UTSW	18	12,905,042 (GRCm38)	missense	probably damaging	1.00
R8506:Osbpl1a	UTSW	18	12,768,586 (GRCm38)	missense	probably benign	0.02
R8947:Osbpl1a	UTSW	18	12,766,801 (GRCm38)	critical splice donor site	probably null
R9069:Osbpl1a	UTSW	18	12,869,017 (GRCm38)	intron	probably benign
R9085:Osbpl1a	UTSW	18	12,929,036 (GRCm38)	missense	probably damaging	1.00
R9288:Osbpl1a	UTSW	18	12,771,345 (GRCm38)	missense	probably damaging	1.00
R9443:Osbpl1a	UTSW	18	12,898,187 (GRCm38)	missense	probably benign	0.00
R9517:Osbpl1a	UTSW	18	12,909,908 (GRCm38)	missense	probably benign
R9600:Osbpl1a	UTSW	18	12,882,220 (GRCm38)	missense	probably benign	0.00
R9658:Osbpl1a	UTSW	18	12,756,212 (GRCm38)	missense	probably benign	0.05
R9694:Osbpl1a	UTSW	18	12,819,508 (GRCm38)	missense	probably benign	0.03
X0027:Osbpl1a	UTSW	18	12,759,503 (GRCm38)	missense	possibly damaging	0.46
Z1177:Osbpl1a	UTSW	18	12,906,923 (GRCm38)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCCTGTTCTAAACACAAGTGG -3'
(R):5'- AACATGGAGTCCTTTCCTGG -3'

Sequencing Primer
(F):5'- GAAACAAATTGACTGTGTATGTGTG -3'
(R):5'- AACATGGAGTCCTTTCCTGGTATAG -3'

Posted On

2014-12-04