Mutagenetix > Incidental Mutation

Incidental Mutation 'R8738:Osbpl7'

663178

Institutional Source

Beutler Lab

Gene Symbol

Osbpl7

Ensembl Gene

ENSMUSG00000038534

Gene Name

oxysterol binding protein-like 7

Synonyms

4933437E18Rik

MMRRC Submission

068585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R8738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96941459-96959730 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96946903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 402 (E402G)

Ref Sequence

ENSEMBL: ENSMUSP00000087474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090020] [ENSMUST00000168565]

AlphaFold

A2A716

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090020
AA Change: E402G

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534
AA Change: E402G

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC
low complexity region	138	154	N/A	INTRINSIC
PH	174	270	7.76e-11	SMART
low complexity region	533	551	N/A	INTRINSIC
Pfam:Oxysterol_BP	599	947	4.6e-135	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168565
AA Change: E231G

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534
AA Change: E231G

Domain	Start	End	E-Value	Type
PH	3	99	7.76e-11	SMART
Pfam:Oxysterol_BP	427	776	8.8e-140	PFAM

Meta Mutation Damage Score

0.0609

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (76/78)

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. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	G	A	9: 15,196,214 (GRCm39)	T283M	probably damaging	Het
Abca9	A	G	11: 110,056,817 (GRCm39)	M1T	probably null	Het
Ackr1	T	C	1: 173,159,952 (GRCm39)	Y189C	probably damaging	Het
Acsm4	A	G	7: 119,304,264 (GRCm39)	D303G	probably benign	Het
Arfgef2	A	T	2: 166,708,867 (GRCm39)	M1060L	probably benign	Het
Arhgef40	T	A	14: 52,238,414 (GRCm39)	F1298I	probably damaging	Het
Atg2a	T	C	19: 6,306,674 (GRCm39)	I1453T	probably benign	Het
B4galnt1	A	T	10: 127,007,584 (GRCm39)	D495V	probably benign	Het
Brpf3	T	A	17: 29,040,214 (GRCm39)	D878E	probably benign	Het
C3	A	G	17: 57,511,015 (GRCm39)	*1664R	probably null	Het
Cap2	A	G	13: 46,684,548 (GRCm39)	T73A	probably benign	Het
Ccr6	A	T	17: 8,475,394 (GRCm39)	I200F	probably damaging	Het
Cdc42bpb	C	T	12: 111,274,221 (GRCm39)	G1021R	probably benign	Het
Cidea	C	A	18: 67,499,485 (GRCm39)	S124*	probably null	Het
Cnst	C	A	1: 179,420,274 (GRCm39)	T135K	probably benign	Het
Crebbp	A	T	16: 3,936,952 (GRCm39)	M805K	probably benign	Het
Crybb1	A	G	5: 112,411,439 (GRCm39)	Y119C	probably damaging	Het
Cux1	G	T	5: 136,402,220 (GRCm39)	T121K	probably damaging	Het
Dnah11	A	T	12: 118,049,384 (GRCm39)		probably null	Het
Dnmbp	T	C	19: 43,900,677 (GRCm39)	T48A	probably damaging	Het
Dysf	G	A	6: 84,171,353 (GRCm39)	G1787E	probably damaging	Het
Gcm2	T	A	13: 41,258,096 (GRCm39)	R177S	probably benign	Het
Gdf6	G	T	4: 9,859,429 (GRCm39)	R170S	probably damaging	Het
Gm16686	A	T	4: 88,673,775 (GRCm39)	M18K	unknown	Het
Gm36864	C	T	7: 43,886,304 (GRCm39)	Q179*	probably null	Het
Golgb1	A	G	16: 36,736,675 (GRCm39)	D2015G	probably damaging	Het
Gtf2i	A	G	5: 134,324,374 (GRCm39)	L30P	probably damaging	Het
Herc2	A	G	7: 55,798,402 (GRCm39)	E1955G	possibly damaging	Het
Hes3	A	T	4: 152,372,132 (GRCm39)	D37E	probably damaging	Het
Igha	A	G	12: 113,223,144 (GRCm39)	V161A	probably damaging	Het
Isl2	T	G	9: 55,452,722 (GRCm39)	S327A	probably benign	Het
Itk	A	G	11: 46,231,539 (GRCm39)	L339P	probably damaging	Het
Kcnb2	T	C	1: 15,780,648 (GRCm39)	S507P	probably benign	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lhfpl4	C	A	6: 113,171,034 (GRCm39)	V51L	possibly damaging	Het
Lhpp	A	G	7: 132,243,261 (GRCm39)	Y159C	probably damaging	Het
Lrwd1	C	A	5: 136,162,257 (GRCm39)	E159*	probably null	Het
Map3k13	A	G	16: 21,745,008 (GRCm39)	T856A	probably damaging	Het
Mcm8	A	G	2: 132,665,141 (GRCm39)	T206A	probably benign	Het
Megf6	A	G	4: 154,352,436 (GRCm39)	K1265R	probably benign	Het
Mrgprb2	A	G	7: 48,202,648 (GRCm39)	Y26H	probably benign	Het
Mug1	T	C	6: 121,817,208 (GRCm39)		probably benign	Het
Mysm1	C	T	4: 94,856,196 (GRCm39)	G134S	probably damaging	Het
Nlrp3	A	C	11: 59,440,216 (GRCm39)	I598L	probably benign	Het
Npas2	A	T	1: 39,331,797 (GRCm39)	I71F	possibly damaging	Het
Nr1h5	A	G	3: 102,862,015 (GRCm39)	S85P	probably benign	Het
Nrcam	T	A	12: 44,619,075 (GRCm39)	V868D	possibly damaging	Het
Oas1a	A	G	5: 121,040,019 (GRCm39)	F191L	probably damaging	Het
Or14j8	A	T	17: 38,263,673 (GRCm39)	Y81N	possibly damaging	Het
Orc3	A	T	4: 34,599,778 (GRCm39)	L125H	possibly damaging	Het
Otof	G	A	5: 30,545,968 (GRCm39)	Q462*	probably null	Het
Phlda2	A	C	7: 143,055,959 (GRCm39)	I90S	probably damaging	Het
Plin3	C	T	17: 56,593,490 (GRCm39)	V75I	probably benign	Het
Pms1	A	T	1: 53,321,195 (GRCm39)	S13T	possibly damaging	Het
Ppm1d	A	G	11: 85,236,732 (GRCm39)	K504E	probably damaging	Het
Rflna	A	T	5: 125,087,541 (GRCm39)	I93F	probably damaging	Het
Rnpc3	T	A	3: 113,414,805 (GRCm39)	M193L	probably benign	Het
Sema3e	A	T	5: 14,214,169 (GRCm39)	I145F	possibly damaging	Het
Serpinb1b	C	A	13: 33,271,500 (GRCm39)	N90K	probably damaging	Het
Sfswap	A	G	5: 129,620,345 (GRCm39)	D538G	possibly damaging	Het
Snx14	A	T	9: 88,289,453 (GRCm39)	D266E	possibly damaging	Het
Stat4	C	T	1: 52,115,711 (GRCm39)	T217M	possibly damaging	Het
Taf13	T	C	3: 108,485,444 (GRCm39)	M40T	probably damaging	Het
Tenm4	A	G	7: 96,523,047 (GRCm39)	T1530A	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tnfrsf14	T	C	4: 155,007,710 (GRCm39)	I220M	possibly damaging	Het
Tnk2	T	C	16: 32,484,718 (GRCm39)	W60R	probably damaging	Het
Tph2	A	T	10: 115,015,614 (GRCm39)		probably benign	Het
Unc13b	A	T	4: 43,177,564 (GRCm39)	K2797N	unknown	Het
Upf1	C	G	8: 70,785,973 (GRCm39)	M995I	probably benign	Het
Upf1	G	A	8: 70,785,972 (GRCm39)	P996S	probably benign	Het
Vcan	C	T	13: 89,840,439 (GRCm39)	V1702M	probably benign	Het
Vmn2r57	T	C	7: 41,077,020 (GRCm39)	D382G	probably benign	Het
Xxylt1	C	T	16: 30,899,964 (GRCm39)	A64T	probably benign	Het
Zcchc8	A	G	5: 123,841,070 (GRCm39)	S407P	probably damaging	Het
Zdhhc19	T	A	16: 32,317,187 (GRCm39)	F109Y	probably damaging	Het
Zfp638	T	C	6: 83,931,745 (GRCm39)		probably null	Het
Zfp691	A	G	4: 119,027,861 (GRCm39)	S124P	probably damaging	Het
Zfp804a	T	A	2: 82,089,450 (GRCm39)	V1093D	probably damaging	Het
Zfp986	A	C	4: 145,625,550 (GRCm39)	Q70P	probably benign	Het

Other mutations in Osbpl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Osbpl7	APN	11	96,943,126 (GRCm39)	missense	probably benign	0.00
IGL02041:Osbpl7	APN	11	96,951,334 (GRCm39)	missense	probably benign	0.08
IGL02322:Osbpl7	APN	11	96,946,950 (GRCm39)	missense	probably benign	0.18
IGL02396:Osbpl7	APN	11	96,946,377 (GRCm39)	missense	probably damaging	1.00
IGL02441:Osbpl7	APN	11	96,958,528 (GRCm39)	missense	probably damaging	1.00
IGL02668:Osbpl7	APN	11	96,958,031 (GRCm39)	missense	possibly damaging	0.90
IGL03003:Osbpl7	APN	11	96,941,521 (GRCm39)	missense	probably benign
R0377:Osbpl7	UTSW	11	96,946,760 (GRCm39)	missense	probably damaging	0.99
R0549:Osbpl7	UTSW	11	96,958,368 (GRCm39)	missense	probably damaging	1.00
R0848:Osbpl7	UTSW	11	96,951,350 (GRCm39)	missense	probably damaging	1.00
R0919:Osbpl7	UTSW	11	96,946,927 (GRCm39)	missense	possibly damaging	0.92
R1845:Osbpl7	UTSW	11	96,949,954 (GRCm39)	missense	probably damaging	1.00
R2119:Osbpl7	UTSW	11	96,946,905 (GRCm39)	missense	probably benign	0.02
R2418:Osbpl7	UTSW	11	96,950,004 (GRCm39)	missense	probably benign	0.00
R2571:Osbpl7	UTSW	11	96,945,667 (GRCm39)	missense	probably damaging	1.00
R3746:Osbpl7	UTSW	11	96,946,879 (GRCm39)	missense	probably damaging	1.00
R3747:Osbpl7	UTSW	11	96,946,879 (GRCm39)	missense	probably damaging	1.00
R3749:Osbpl7	UTSW	11	96,946,879 (GRCm39)	missense	probably damaging	1.00
R4590:Osbpl7	UTSW	11	96,947,098 (GRCm39)	missense	probably damaging	1.00
R4602:Osbpl7	UTSW	11	96,947,095 (GRCm39)	missense	possibly damaging	0.77
R4857:Osbpl7	UTSW	11	96,947,495 (GRCm39)	intron	probably benign
R4898:Osbpl7	UTSW	11	96,950,976 (GRCm39)	missense	probably damaging	0.98
R5160:Osbpl7	UTSW	11	96,945,382 (GRCm39)	missense	probably damaging	1.00
R5292:Osbpl7	UTSW	11	96,958,779 (GRCm39)	missense	probably benign	0.07
R5685:Osbpl7	UTSW	11	96,951,103 (GRCm39)	missense	probably damaging	1.00
R5786:Osbpl7	UTSW	11	96,956,658 (GRCm39)	missense	probably damaging	1.00
R6030:Osbpl7	UTSW	11	96,943,087 (GRCm39)	missense	probably benign	0.15
R6030:Osbpl7	UTSW	11	96,943,087 (GRCm39)	missense	probably benign	0.15
R6038:Osbpl7	UTSW	11	96,941,542 (GRCm39)	missense	probably benign
R6038:Osbpl7	UTSW	11	96,941,542 (GRCm39)	missense	probably benign
R6239:Osbpl7	UTSW	11	96,943,650 (GRCm39)	critical splice donor site	probably null
R6715:Osbpl7	UTSW	11	96,945,425 (GRCm39)	missense	probably damaging	1.00
R6920:Osbpl7	UTSW	11	96,941,584 (GRCm39)	missense	probably damaging	0.99
R7179:Osbpl7	UTSW	11	96,941,662 (GRCm39)	missense	probably benign	0.05
R7222:Osbpl7	UTSW	11	96,951,364 (GRCm39)	missense	probably damaging	1.00
R7413:Osbpl7	UTSW	11	96,945,704 (GRCm39)	critical splice donor site	probably null
R7773:Osbpl7	UTSW	11	96,941,548 (GRCm39)	missense	probably benign
R7806:Osbpl7	UTSW	11	96,946,954 (GRCm39)	missense	probably benign	0.01
R7884:Osbpl7	UTSW	11	96,951,283 (GRCm39)	missense	possibly damaging	0.72
R8169:Osbpl7	UTSW	11	96,945,676 (GRCm39)	missense	probably damaging	1.00
R8289:Osbpl7	UTSW	11	96,947,405 (GRCm39)	missense	probably benign	0.08
R8341:Osbpl7	UTSW	11	96,950,989 (GRCm39)	missense	probably damaging	1.00
R8735:Osbpl7	UTSW	11	96,943,194 (GRCm39)	missense	probably benign
X0020:Osbpl7	UTSW	11	96,947,385 (GRCm39)	missense	probably benign	0.01
X0060:Osbpl7	UTSW	11	96,951,336 (GRCm39)	nonsense	probably null
X0062:Osbpl7	UTSW	11	96,956,469 (GRCm39)	missense	probably damaging	0.98
Z1176:Osbpl7	UTSW	11	96,950,979 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTTCAACTTGGCAGACCTCAG -3'
(R):5'- ACACTGCTGAGGGAGTTGTG -3'

Sequencing Primer
(F):5'- AACTTGGCAGACCTCAGTGACG -3'
(R):5'- AGTTGTGCACTGCGGAGAG -3'

Posted On

2021-03-08