Mutagenetix > Incidental Mutation

Incidental Mutation 'R3815:Or8b55'

274248

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

040770-MU

Accession Numbers

Essential gene?

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

Stock #

R3815 (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% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,024 (GRCm39)		probably benign	Het
Aldh18a1	A	G	19: 40,558,944 (GRCm39)	S299P	probably damaging	Het
Ankrd6	A	C	4: 32,806,206 (GRCm39)	S618R	probably benign	Het
Apobec3	G	T	15: 79,783,301 (GRCm39)	R126M	possibly damaging	Het
Arl8b	T	A	6: 108,790,658 (GRCm39)	V65D	probably damaging	Het
AW554918	C	T	18: 25,533,104 (GRCm39)	R253C	probably benign	Het
Cd177	A	G	7: 24,453,817 (GRCm39)	V358A	probably benign	Het
Cdca7l	G	A	12: 117,835,948 (GRCm39)	V95I	probably damaging	Het
Ces1e	A	G	8: 93,928,467 (GRCm39)		probably null	Het
Cfap90	A	G	13: 68,759,344 (GRCm39)	H106R	probably damaging	Het
Coq5	T	G	5: 115,433,957 (GRCm39)	F306V	probably damaging	Het
Cpsf1	A	G	15: 76,485,349 (GRCm39)	V501A	probably benign	Het
Csmd1	C	T	8: 16,052,522 (GRCm39)	A2201T	probably damaging	Het
Cul5	T	A	9: 53,534,243 (GRCm39)	I630L	probably benign	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Dedd	A	G	1: 171,166,469 (GRCm39)	E135G	probably benign	Het
Ecel1	A	G	1: 87,080,622 (GRCm39)	F368S	probably damaging	Het
Ext1	A	C	15: 53,208,485 (GRCm39)	I92S	probably benign	Het
Fbxw5	A	T	2: 25,393,576 (GRCm39)	D268V	possibly damaging	Het
Flacc1	T	G	1: 58,698,164 (GRCm39)	N379T	probably damaging	Het
Gen1	A	T	12: 11,302,034 (GRCm39)	V192E	possibly damaging	Het
Gm11077	T	G	6: 140,675,041 (GRCm39)	V11G	unknown	Het
Ift88	A	T	14: 57,678,438 (GRCm39)	E150V	possibly damaging	Het
Kcna1	T	C	6: 126,620,009 (GRCm39)	R104G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Krt82	A	G	15: 101,459,035 (GRCm39)	S2P	probably damaging	Het
Luc7l2	T	C	6: 38,547,526 (GRCm39)	S69P	possibly damaging	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Mamstr	G	T	7: 45,293,956 (GRCm39)	R20L	probably damaging	Het
Nav1	C	A	1: 135,398,862 (GRCm39)	K573N	possibly damaging	Het
Or5b104	T	C	19: 13,072,277 (GRCm39)	H245R	probably 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
Palld	T	A	8: 62,002,871 (GRCm39)		probably benign	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
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,883,359 (GRCm39)	E329V	probably damaging	Het
Rarres1	T	A	3: 67,422,654 (GRCm39)	D32V	probably benign	Het
Rhobtb1	A	G	10: 69,121,523 (GRCm39)	H53R	possibly damaging	Het
Ryr1	A	T	7: 28,772,327 (GRCm39)	S2494T	probably damaging	Het
Sapcd2	G	A	2: 25,263,518 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Senp1	A	C	15: 97,954,713 (GRCm39)	D490E	probably damaging	Het
Sfrp5	C	T	19: 42,187,230 (GRCm39)	R280H	probably benign	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Skint5	G	A	4: 113,703,496 (GRCm39)	T499I	possibly damaging	Het
Smad1	G	A	8: 80,070,359 (GRCm39)	A393V	probably benign	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Spire1	G	T	18: 67,639,733 (GRCm39)	T273K	probably benign	Het
Tep1	T	C	14: 51,105,772 (GRCm39)	T83A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttn	T	A	2: 76,552,077 (GRCm39)	R29441*	probably null	Het
Wdr37	A	G	13: 8,903,632 (GRCm39)		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
R3816: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'- AGGCAGATCTAAGGCTTTCAGC -3'
(R):5'- TACGTTTTCTAATACCCTGTCAGG -3'

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

Posted On

2015-04-02