Mutagenetix > Incidental Mutation

Incidental Mutation 'R2357:Or8b56'

247445

Institutional Source

Beutler Lab

Gene Symbol

Or8b56

Ensembl Gene

ENSMUSG00000044798

Gene Name

olfactory receptor family 8 subfamily B member 56

Synonyms

Olfr923, MOR164-2, GA_x6K02T2PVTD-32530445-32531380

MMRRC Submission

040339-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R2357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38738911-38739978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38739634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 216 (S216P)

Ref Sequence

ENSEMBL: ENSMUSP00000151652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051238] [ENSMUST00000213619] [ENSMUST00000219798]

AlphaFold

Q7TRB9

Predicted Effect

probably benign
Transcript: ENSMUST00000051238
AA Change: S210P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062073
Gene: ENSMUSG00000044798
AA Change: S210P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	1.2e-46	PFAM
Pfam:7tm_1	47	296	3.5e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213550

Predicted Effect

probably benign
Transcript: ENSMUST00000213619
AA Change: S210P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000219798
AA Change: S216P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,569,844 (GRCm39)	T520K	possibly damaging	Het
Abca13	T	C	11: 9,247,336 (GRCm39)	L2361P	probably damaging	Het
Acsl6	T	A	11: 54,218,106 (GRCm39)	M248K	probably damaging	Het
Adam11	G	T	11: 102,665,334 (GRCm39)	V467L	probably benign	Het
Afap1	C	T	5: 36,141,618 (GRCm39)	H501Y	probably damaging	Het
Ankrd28	A	T	14: 31,486,251 (GRCm39)	Y22*	probably null	Het
Ccdc124	A	T	8: 71,321,179 (GRCm39)	L187Q	probably damaging	Het
Cdc42bpa	G	A	1: 179,894,792 (GRCm39)	S324N	possibly damaging	Het
Cgnl1	T	A	9: 71,632,950 (GRCm39)	K134*	probably null	Het
Cnpy3	G	T	17: 47,062,909 (GRCm39)	S47R	probably damaging	Het
Cpne8	A	T	15: 90,503,877 (GRCm39)	L96Q	probably damaging	Het
Crisp3	A	T	17: 40,533,396 (GRCm39)	Y212N	probably damaging	Het
Cryba1	A	T	11: 77,613,427 (GRCm39)		probably benign	Het
Cyc1	A	G	15: 76,229,766 (GRCm39)	M288V	possibly damaging	Het
Dnah8	T	A	17: 30,990,846 (GRCm39)	D3296E	probably benign	Het
Dnah8	A	G	17: 31,093,909 (GRCm39)	T4668A	probably benign	Het
Dnajb6	T	A	5: 29,958,638 (GRCm39)	F113I	probably damaging	Het
Dync2h1	A	G	9: 7,081,053 (GRCm39)	I2881T	probably benign	Het
Eps8l1	T	C	7: 4,473,354 (GRCm39)	S179P	probably benign	Het
Esco2	C	A	14: 66,064,000 (GRCm39)	A395S	probably benign	Het
Evi5l	T	C	8: 4,243,113 (GRCm39)		probably benign	Het
Exoc6b	T	C	6: 84,966,321 (GRCm39)	T218A	possibly damaging	Het
Gde1	A	T	7: 118,290,814 (GRCm39)	F170L	probably benign	Het
Ggt5	A	C	10: 75,445,075 (GRCm39)	I361L	probably benign	Het
Golga3	C	T	5: 110,350,514 (GRCm39)	T683M	probably damaging	Het
Golgb1	A	G	16: 36,732,370 (GRCm39)	Q539R	probably damaging	Het
Grm2	A	G	9: 106,524,780 (GRCm39)	V645A	probably damaging	Het
Gtf2h4	A	T	17: 35,978,891 (GRCm39)	V408D	probably damaging	Het
Gucy1a2	A	T	9: 3,797,299 (GRCm39)	H583L	probably damaging	Het
Hivep2	C	T	10: 14,019,043 (GRCm39)	A1938V	probably benign	Het
Iars1	T	C	13: 49,841,679 (GRCm39)	Y56H	probably damaging	Het
Il17re	A	G	6: 113,445,431 (GRCm39)	I381V	possibly damaging	Het
Klrd1	T	A	6: 129,573,872 (GRCm39)	*71K	probably null	Het
Kng1	A	T	16: 22,897,815 (GRCm39)	Y405F	possibly damaging	Het
Kptn	G	T	7: 15,859,709 (GRCm39)	C311F	probably damaging	Het
Lama5	T	C	2: 179,821,890 (GRCm39)	I2982V	probably benign	Het
Mamstr	G	T	7: 45,291,754 (GRCm39)	D35Y	probably damaging	Het
Mdc1	A	G	17: 36,158,337 (GRCm39)	D239G	probably benign	Het
Mindy3	T	G	2: 12,408,987 (GRCm39)		probably benign	Het
Mrpl39	A	T	16: 84,524,452 (GRCm39)	H204Q	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo5a	T	A	9: 75,108,647 (GRCm39)	M1476K	probably damaging	Het
Nol4	A	G	18: 23,172,967 (GRCm39)	S45P	probably benign	Het
Nol8	T	C	13: 49,807,980 (GRCm39)		probably null	Het
Or4f61	A	G	2: 111,922,743 (GRCm39)	I101T	possibly damaging	Het
Or5d18	A	T	2: 87,865,028 (GRCm39)	W152R	probably damaging	Het
Or6c207	C	A	10: 129,104,642 (GRCm39)	K183N	probably benign	Het
Plau	T	A	14: 20,888,683 (GRCm39)	V100D	probably damaging	Het
Plpp7	T	C	2: 31,999,654 (GRCm39)	V6A	probably benign	Het
Prr14	T	C	7: 127,074,535 (GRCm39)	S356P	probably benign	Het
Rabl3	A	G	16: 37,362,293 (GRCm39)	D44G	probably null	Het
Rasa4	T	C	5: 136,120,101 (GRCm39)	V59A	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Rictor	A	T	15: 6,813,043 (GRCm39)	N932I	probably damaging	Het
Rpl9-ps6	A	G	19: 32,443,743 (GRCm39)	V70A	probably benign	Het
S100a7l2	A	T	3: 90,995,733 (GRCm39)	S56R	probably benign	Het
St3gal1	A	G	15: 66,985,631 (GRCm39)	Y8H	probably benign	Het
Strn	G	A	17: 78,963,028 (GRCm39)	T745I	probably damaging	Het
Tbx15	C	T	3: 99,223,672 (GRCm39)		probably null	Het
Tbx20	T	A	9: 24,681,072 (GRCm39)	D140V	possibly damaging	Het
Ttn	A	C	2: 76,666,923 (GRCm39)	Y42*	probably null	Het
Usp9y	G	A	Y: 1,394,050 (GRCm39)	T560I	possibly damaging	Het
Vmn2r111	A	G	17: 22,778,151 (GRCm39)		probably benign	Het
Vps13d	GG	GGGGGG	4: 144,801,547 (GRCm39)		probably null	Het
Wfdc12	A	T	2: 164,032,170 (GRCm39)	I40N	probably damaging	Het
Zfp78	G	A	7: 6,382,056 (GRCm39)	G369R	probably damaging	Het

Other mutations in Or8b56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01485:Or8b56	APN	9	38,739,895 (GRCm39)	missense	possibly damaging	0.93
IGL01521:Or8b56	APN	9	38,739,185 (GRCm39)	missense	probably damaging	1.00
IGL01548:Or8b56	APN	9	38,739,646 (GRCm39)	missense	probably benign	0.00
IGL02240:Or8b56	APN	9	38,739,602 (GRCm39)	missense	probably benign	0.12
IGL02794:Or8b56	APN	9	38,739,511 (GRCm39)	missense	probably damaging	1.00
R0116:Or8b56	UTSW	9	38,739,860 (GRCm39)	missense	probably damaging	0.99
R0118:Or8b56	UTSW	9	38,739,154 (GRCm39)	missense	possibly damaging	0.62
R0189:Or8b56	UTSW	9	38,739,111 (GRCm39)	nonsense	probably null
R1381:Or8b56	UTSW	9	38,739,634 (GRCm39)	missense	probably benign	0.04
R1512:Or8b56	UTSW	9	38,739,660 (GRCm39)	nonsense	probably null
R1702:Or8b56	UTSW	9	38,739,839 (GRCm39)	missense	probably damaging	1.00
R2863:Or8b56	UTSW	9	38,739,835 (GRCm39)	missense	possibly damaging	0.89
R2985:Or8b56	UTSW	9	38,739,406 (GRCm39)	missense	probably benign	0.05
R5475:Or8b56	UTSW	9	38,739,762 (GRCm39)	missense	possibly damaging	0.81
R5682:Or8b56	UTSW	9	38,739,424 (GRCm39)	missense	probably benign	0.00
R8243:Or8b56	UTSW	9	38,739,803 (GRCm39)	missense
R8743:Or8b56	UTSW	9	38,738,995 (GRCm39)	missense	probably benign	0.08
R9182:Or8b56	UTSW	9	38,739,172 (GRCm39)	missense	probably damaging	1.00
R9563:Or8b56	UTSW	9	38,739,014 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTATTTGCAAGCCACTGC -3'
(R):5'- ATACCGAGGCCACTTTTCCC -3'

Sequencing Primer
(F):5'- CCCGGATCTGTGCTGTG -3'
(R):5'- TTGTCCATAGACTCTACATCAGAAGG -3'

Posted On

2014-11-11