Mutagenetix > Incidental Mutation

Incidental Mutation 'R3816:Or8b55'

274316

Institutional Source

Beutler Lab

Gene Symbol

Or8b55

Ensembl Gene

ENSMUSG00000043911

Gene Name

olfactory receptor family 8 subfamily B member 55

Synonyms

MOR161-3, Olfr922, GA_x6K02T2PVTD-32518237-32519172

MMRRC Submission

040881-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R3816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38726704-38727835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38727722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 308 (K308E)

Ref Sequence

ENSEMBL: ENSMUSP00000149057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051004] [ENSMUST00000213164]

AlphaFold

Q8VG50

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051004
AA Change: K308E

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000057086
Gene: ENSMUSG00000043911
AA Change: K308E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	9.3e-52	PFAM
Pfam:7tm_1	41	290	3.4e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213164
AA Change: K308E

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

100% (62/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,024 (GRCm39)		probably benign	Het
Abca2	A	G	2: 25,336,083 (GRCm39)	Y2151C	probably damaging	Het
Adamts3	T	A	5: 89,853,123 (GRCm39)	H509L	probably damaging	Het
Agfg2	T	C	5: 137,652,036 (GRCm39)	D441G	probably benign	Het
Arl8b	T	A	6: 108,790,658 (GRCm39)	V65D	probably damaging	Het
As3mt	A	T	19: 46,696,216 (GRCm39)	D8V	probably benign	Het
Ass1	G	T	2: 31,400,117 (GRCm39)		probably benign	Het
Cdc42bpa	A	G	1: 179,972,451 (GRCm39)	I634V	possibly damaging	Het
Cflar	T	C	1: 58,791,582 (GRCm39)	V298A	probably benign	Het
Csmd1	C	T	8: 16,052,522 (GRCm39)	A2201T	probably damaging	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Dlec1	C	T	9: 118,953,911 (GRCm39)	A610V	probably damaging	Het
Dock1	C	T	7: 134,346,015 (GRCm39)	R186*	probably null	Het
E130018O15Rik	T	C	5: 35,540,110 (GRCm39)		noncoding transcript	Het
Gabrg3	G	A	7: 57,031,412 (GRCm39)	Q43*	probably null	Het
Gipc2	T	C	3: 151,871,481 (GRCm39)	K15R	probably benign	Het
Gjb2	A	G	14: 57,337,530 (GRCm39)	V226A	probably benign	Het
Glipr2	G	T	4: 43,977,522 (GRCm39)	A51S	possibly damaging	Het
Gsdme	A	C	6: 50,196,391 (GRCm39)	S340A	probably benign	Het
H2-M10.2	A	T	17: 36,597,254 (GRCm39)	Y20*	probably null	Het
Hapstr1	T	A	16: 8,648,358 (GRCm39)	I12N	probably damaging	Het
Hlcs	A	G	16: 93,933,947 (GRCm39)	V242A	probably benign	Het
Ifi44	T	C	3: 151,454,894 (GRCm39)	I110M	possibly damaging	Het
Il18r1	T	C	1: 40,526,132 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Khk	T	C	5: 31,084,060 (GRCm39)	S80P	probably damaging	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myo1g	A	G	11: 6,460,926 (GRCm39)	V706A	probably benign	Het
Npat	T	C	9: 53,481,216 (GRCm39)	S1008P	probably damaging	Het
Or2ag18	A	G	7: 106,405,027 (GRCm39)	I214T	probably damaging	Het
Or5p59	A	G	7: 107,702,705 (GRCm39)	Y63C	possibly damaging	Het
Or8b12c	C	T	9: 37,715,465 (GRCm39)	S86L	probably benign	Het
Or8b40	A	T	9: 38,027,922 (GRCm39)	T277S	possibly damaging	Het
Pcdha2	A	G	18: 37,074,748 (GRCm39)	Y793C	probably benign	Het
Pcdhb4	A	T	18: 37,441,065 (GRCm39)	D125V	probably damaging	Het
Pdgfrb	A	G	18: 61,212,017 (GRCm39)	D844G	probably damaging	Het
Phf3	T	C	1: 30,844,834 (GRCm39)	D1375G	probably damaging	Het
Pigu	A	T	2: 155,141,063 (GRCm39)	F276I	probably damaging	Het
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Psmd9	C	T	5: 123,372,653 (GRCm39)		probably benign	Het
Rac2	T	C	15: 78,450,199 (GRCm39)	D47G	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sall1	G	T	8: 89,759,303 (GRCm39)	A267E	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpina3k	A	G	12: 104,307,221 (GRCm39)	E151G	probably benign	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Slc51b	A	G	9: 65,321,300 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Sspo	A	T	6: 48,458,037 (GRCm39)	E3269V	possibly damaging	Het
Star	G	A	8: 26,299,905 (GRCm39)	M82I	probably benign	Het
Tnfrsf11a	C	T	1: 105,737,085 (GRCm39)	T64I	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Usp32	A	G	11: 84,885,210 (GRCm39)		probably null	Het
Vmn2r18	T	C	5: 151,485,148 (GRCm39)	N782S	probably benign	Het
Vwa3a	A	G	7: 120,399,602 (GRCm39)	T1028A	probably benign	Het
Xrn2	G	A	2: 146,870,120 (GRCm39)	G270R	probably damaging	Het
Zbbx	G	T	3: 74,992,802 (GRCm39)	Q231K	probably benign	Het

Other mutations in Or8b55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Or8b55	APN	9	38,727,335 (GRCm39)	missense	probably damaging	0.99
IGL02445:Or8b55	APN	9	38,726,901 (GRCm39)	missense	possibly damaging	0.57
R1758:Or8b55	UTSW	9	38,726,871 (GRCm39)	missense	probably benign
R1759:Or8b55	UTSW	9	38,727,194 (GRCm39)	missense	probably damaging	1.00
R1809:Or8b55	UTSW	9	38,727,443 (GRCm39)	missense	probably benign
R1938:Or8b55	UTSW	9	38,727,146 (GRCm39)	missense	probably benign	0.33
R2177:Or8b55	UTSW	9	38,727,482 (GRCm39)	missense	possibly damaging	0.82
R3438:Or8b55	UTSW	9	38,727,512 (GRCm39)	missense	probably damaging	0.99
R3815:Or8b55	UTSW	9	38,727,722 (GRCm39)	missense	possibly damaging	0.47
R3817:Or8b55	UTSW	9	38,727,722 (GRCm39)	missense	possibly damaging	0.47
R3819:Or8b55	UTSW	9	38,727,722 (GRCm39)	missense	possibly damaging	0.47
R3859:Or8b55	UTSW	9	38,727,443 (GRCm39)	missense	probably benign
R4768:Or8b55	UTSW	9	38,727,245 (GRCm39)	missense	probably damaging	1.00
R5082:Or8b55	UTSW	9	38,727,441 (GRCm39)	missense	possibly damaging	0.70
R5659:Or8b55	UTSW	9	38,727,072 (GRCm39)	missense	probably benign	0.01
R5813:Or8b55	UTSW	9	38,726,952 (GRCm39)	missense	probably benign	0.00
R6226:Or8b55	UTSW	9	38,727,666 (GRCm39)	missense	probably damaging	0.99
R7240:Or8b55	UTSW	9	38,727,009 (GRCm39)	missense	probably benign	0.01
R7966:Or8b55	UTSW	9	38,727,536 (GRCm39)	missense	probably benign	0.11
R8751:Or8b55	UTSW	9	38,727,335 (GRCm39)	missense	probably damaging	0.99
R8868:Or8b55	UTSW	9	38,727,285 (GRCm39)	missense	probably damaging	1.00
R9121:Or8b55	UTSW	9	38,726,976 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTGAAGGCAGATCTAAGGC -3'
(R):5'- TTACGTTTTCTAATACCCTGTCAGG -3'

Sequencing Primer
(F):5'- GGCAGATCTAAGGCTTTCAGC -3'
(R):5'- TTTCAGACCAGGTCAGCT -3'

Posted On

2015-04-02