Mutagenetix > Incidental Mutation

Incidental Mutation 'R6857:Or8b50'

535320

Institutional Source

Beutler Lab

Gene Symbol

Or8b50

Ensembl Gene

ENSMUSG00000047050

Gene Name

olfactory receptor family 8 subfamily B member 50

Synonyms

Olfr914, MOR165-7, GA_x6K02T2PVTD-32308823-32309773

MMRRC Submission

044959-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6857 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38517763-38518713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38518307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 182 (L182P)

Ref Sequence

ENSEMBL: ENSMUSP00000150241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057755] [ENSMUST00000217057]

AlphaFold

E9PW59

Predicted Effect

probably benign
Transcript: ENSMUST00000057755
AA Change: L182P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000053405
Gene: ENSMUSG00000047050
AA Change: L182P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	310	1.1e-48	PFAM
Pfam:7tm_1	41	290	5.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217057
AA Change: L182P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,110,514 (GRCm39)	L545P	possibly damaging	Het
Adam4	T	C	12: 81,466,723 (GRCm39)	T633A	possibly damaging	Het
Ahnak	C	T	19: 9,014,532 (GRCm39)	Q119*	probably null	Het
Anxa10	C	A	8: 62,514,051 (GRCm39)	A239S	probably benign	Het
B020011L13Rik	A	T	1: 117,729,018 (GRCm39)	H175L	probably benign	Het
Best2	A	G	8: 85,734,452 (GRCm39)	V422A	probably benign	Het
Cc2d2b	T	C	19: 40,759,309 (GRCm39)	F298S	possibly damaging	Het
Cd38	T	A	5: 44,063,540 (GRCm39)	M211K	probably damaging	Het
Cd3d	T	G	9: 44,896,902 (GRCm39)	M92R	probably damaging	Het
Cdk5rap2	C	A	4: 70,163,633 (GRCm39)	E1474*	probably null	Het
Clvs1	A	G	4: 9,449,433 (GRCm39)	K341E	probably benign	Het
Copg2	G	T	6: 30,840,533 (GRCm39)	D112E	possibly damaging	Het
Cspg4b	A	T	13: 113,456,492 (GRCm39)	N846I	probably damaging	Het
Dmxl1	A	T	18: 49,997,902 (GRCm39)	N697Y	probably damaging	Het
Dync1h1	T	C	12: 110,624,981 (GRCm39)	S3803P	possibly damaging	Het
Ecpas	T	A	4: 58,814,065 (GRCm39)	D1347V	probably damaging	Het
Epx	T	A	11: 87,760,781 (GRCm39)	K384*	probably null	Het
Fam135a	G	C	1: 24,053,870 (GRCm39)	D1222E	probably damaging	Het
Fndc1	T	A	17: 7,991,002 (GRCm39)	H898L	unknown	Het
Gapvd1	A	G	2: 34,618,389 (GRCm39)	I190T	probably damaging	Het
Hax1	T	G	3: 89,904,759 (GRCm39)	S122R	probably damaging	Het
Hdac9	T	G	12: 34,443,362 (GRCm39)	M272L	probably benign	Het
Itgb7	T	C	15: 102,131,900 (GRCm39)	S228G	probably damaging	Het
Itpr2	C	A	6: 146,298,517 (GRCm39)	E315*	probably null	Het
Kctd8	T	C	5: 69,454,045 (GRCm39)	N331D	probably benign	Het
Ky	G	A	9: 102,419,631 (GRCm39)	G546E	probably damaging	Het
Lao1	T	C	4: 118,821,023 (GRCm39)		probably null	Het
Mtmr12	T	A	15: 12,263,918 (GRCm39)	W427R	probably damaging	Het
Mxra8	A	G	4: 155,927,593 (GRCm39)	K434E	possibly damaging	Het
Myh4	T	C	11: 67,140,711 (GRCm39)	C676R	possibly damaging	Het
Nek7	C	T	1: 138,443,420 (GRCm39)	G178R	probably damaging	Het
Or5w17	A	T	2: 87,583,831 (GRCm39)	C169S	probably damaging	Het
Or8k35	A	T	2: 86,424,608 (GRCm39)	L188H	probably damaging	Het
Paqr5	G	T	9: 61,883,370 (GRCm39)	H41N	probably damaging	Het
Plekha8	T	C	6: 54,606,920 (GRCm39)	L405P	probably damaging	Het
Plpbp	A	G	8: 27,535,454 (GRCm39)	N79S	possibly damaging	Het
Plxnd1	G	T	6: 115,970,724 (GRCm39)	A348E	probably benign	Het
Prdm9	T	C	17: 15,764,518 (GRCm39)	Q754R	probably benign	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rgs12	A	T	5: 35,187,366 (GRCm39)	K213*	probably null	Het
Serpina3m	T	C	12: 104,355,585 (GRCm39)	L84P	probably damaging	Het
Tab2	T	C	10: 7,796,177 (GRCm39)	T102A	possibly damaging	Het
Tagln3	G	T	16: 45,544,599 (GRCm39)	A24E	probably benign	Het
Tanc2	A	G	11: 105,801,114 (GRCm39)	E1110G	possibly damaging	Het
Tcf3	T	C	10: 80,252,733 (GRCm39)		probably null	Het
Tmem14a	T	C	1: 21,299,769 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,748,275 (GRCm39)	E4258V	possibly damaging	Het
Ubr4	G	A	4: 139,213,362 (GRCm39)	D5104N	possibly damaging	Het
Ugt2b37	C	G	5: 87,388,705 (GRCm39)	A503P	probably damaging	Het
Unc45b	A	G	11: 82,804,038 (GRCm39)	I72V	probably benign	Het
Vmn1r88	A	T	7: 12,912,258 (GRCm39)	M205L	possibly damaging	Het
Vmn2r109	C	T	17: 20,760,932 (GRCm39)	M808I	probably benign	Het
Wdr72	G	T	9: 74,062,323 (GRCm39)	V490L	probably damaging	Het
Zfp1004	G	T	2: 150,033,982 (GRCm39)	C132F	probably damaging	Het
Zfp998	A	T	13: 66,580,161 (GRCm39)	H107Q	probably benign	Het
Zgrf1	T	A	3: 127,375,096 (GRCm39)	V785E	probably damaging	Het
Zswim7	A	T	11: 62,171,955 (GRCm39)		probably benign	Het

Other mutations in Or8b50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Or8b50	APN	9	38,517,850 (GRCm39)	missense	probably null	0.00
IGL01758:Or8b50	APN	9	38,518,589 (GRCm39)	missense	probably damaging	0.99
IGL02003:Or8b50	APN	9	38,518,136 (GRCm39)	missense	probably damaging	1.00
IGL02203:Or8b50	APN	9	38,518,719 (GRCm39)	utr 3 prime	probably benign
IGL02233:Or8b50	APN	9	38,518,538 (GRCm39)	missense	probably damaging	1.00
IGL02408:Or8b50	APN	9	38,518,417 (GRCm39)	missense	possibly damaging	0.62
IGL02882:Or8b50	APN	9	38,518,234 (GRCm39)	missense	probably benign	0.04
IGL03081:Or8b50	APN	9	38,518,166 (GRCm39)	missense	probably benign	0.01
IGL03088:Or8b50	APN	9	38,518,597 (GRCm39)	missense	probably damaging	0.99
IGL03177:Or8b50	APN	9	38,517,867 (GRCm39)	nonsense	probably null
IGL03219:Or8b50	APN	9	38,518,247 (GRCm39)	missense	probably benign	0.28
P0023:Or8b50	UTSW	9	38,517,941 (GRCm39)	missense	probably damaging	1.00
R0630:Or8b50	UTSW	9	38,518,192 (GRCm39)	missense	probably benign	0.01
R0948:Or8b50	UTSW	9	38,517,787 (GRCm39)	missense	possibly damaging	0.65
R1451:Or8b50	UTSW	9	38,518,234 (GRCm39)	missense	probably benign	0.04
R1681:Or8b50	UTSW	9	38,518,244 (GRCm39)	missense	probably damaging	0.99
R2402:Or8b50	UTSW	9	38,518,397 (GRCm39)	missense	probably benign	0.02
R5854:Or8b50	UTSW	9	38,517,959 (GRCm39)	missense	probably damaging	1.00
R7452:Or8b50	UTSW	9	38,518,384 (GRCm39)	missense	probably benign	0.34
R7838:Or8b50	UTSW	9	38,517,708 (GRCm39)	start gained	probably benign
R8039:Or8b50	UTSW	9	38,518,685 (GRCm39)	missense	probably benign
R8489:Or8b50	UTSW	9	38,518,232 (GRCm39)	missense	probably benign	0.07
R8768:Or8b50	UTSW	9	38,518,441 (GRCm39)	missense	probably benign	0.01
R9373:Or8b50	UTSW	9	38,518,142 (GRCm39)	missense	possibly damaging	0.91
R9380:Or8b50	UTSW	9	38,518,415 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGAATGTTATGTGCTGACAGC -3'
(R):5'- ATGTGGGAACTGCAAGTGCTG -3'

Sequencing Primer
(F):5'- CAGCAATGGCCTATGATCGCTATG -3'
(R):5'- CAAGTGCTGAAGGCTTTGGACC -3'

Posted On

2018-09-12