Mutagenetix > Incidental Mutation

Incidental Mutation 'R2177:Or8b55'

236946

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

040179-MU

Accession Numbers

Essential gene?

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

Stock #

R2177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38726704-38727835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38727482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 228 (I228F)

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: I228F

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057086
Gene: ENSMUSG00000043911
AA Change: I228F

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: I228F

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (60/62)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,312 (GRCm39)	N356K	probably damaging	Het
Acap2	C	T	16: 30,952,346 (GRCm39)		probably null	Het
Adamts19	T	C	18: 59,087,626 (GRCm39)	L552P	possibly damaging	Het
Adamts2	T	A	11: 50,668,055 (GRCm39)	M539K	probably damaging	Het
Aplp1	A	T	7: 30,141,946 (GRCm39)	C210*	probably null	Het
Apoa1	A	T	9: 46,141,371 (GRCm39)	K156*	probably null	Het
AW551984	G	A	9: 39,511,111 (GRCm39)	R159C	probably benign	Het
Bok	C	T	1: 93,622,787 (GRCm39)	Q112*	probably null	Het
Cemip2	T	C	19: 21,789,149 (GRCm39)	S528P	possibly damaging	Het
Cfap57	T	G	4: 118,463,885 (GRCm39)	I323L	probably benign	Het
Cfap69	T	A	5: 5,675,803 (GRCm39)	E270D	probably damaging	Het
Ch25h	G	T	19: 34,452,097 (GRCm39)	L144M	probably damaging	Het
Clcn6	T	A	4: 148,099,057 (GRCm39)	I429F	possibly damaging	Het
Cpb1	T	A	3: 20,320,611 (GRCm39)	T115S	probably benign	Het
Csf1r	T	A	18: 61,248,015 (GRCm39)		probably benign	Het
Ddx6	A	G	9: 44,539,028 (GRCm39)	T279A	probably damaging	Het
Dnah8	A	G	17: 30,872,367 (GRCm39)	H452R	probably benign	Het
Dscam	T	A	16: 96,411,524 (GRCm39)	D1784V	probably damaging	Het
Exo1	T	A	1: 175,710,456 (GRCm39)		probably null	Het
Fcho1	A	G	8: 72,164,905 (GRCm39)	S459P	probably damaging	Het
Fxyd4	C	T	6: 117,911,393 (GRCm39)	A56T	probably damaging	Het
Gbf1	T	C	19: 46,254,109 (GRCm39)	S599P	probably benign	Het
Iqce	T	C	5: 140,677,348 (GRCm39)		probably benign	Het
Kat2a	A	G	11: 100,601,648 (GRCm39)	F256L	probably damaging	Het
Klk1b1	G	T	7: 43,618,695 (GRCm39)	R24L	possibly damaging	Het
Krtap16-1	A	G	11: 99,877,275 (GRCm39)	V43A	probably damaging	Het
Maea	C	G	5: 33,529,034 (GRCm39)	Q326E	probably benign	Het
Man1a2	A	T	3: 100,539,847 (GRCm39)	I308N	probably damaging	Het
Marf1	G	T	16: 13,970,471 (GRCm39)	R83S	probably benign	Het
Me3	A	C	7: 89,282,278 (GRCm39)	T54P	probably benign	Het
Mme	A	T	3: 63,208,426 (GRCm39)	I63L	probably benign	Het
Mmel1	A	G	4: 154,978,560 (GRCm39)	N664S	probably damaging	Het
Mrgprb2	A	G	7: 48,202,128 (GRCm39)	V199A	probably benign	Het
Mrpl36	T	A	13: 73,479,588 (GRCm39)	F33I	probably benign	Het
Nlrp4e	A	T	7: 23,054,686 (GRCm39)	T947S	probably benign	Het
Or14c45	G	A	7: 86,176,870 (GRCm39)	V302I	probably benign	Het
Or4b1d	T	A	2: 89,968,808 (GRCm39)	H225L	possibly damaging	Het
Parp4	A	T	14: 56,896,746 (GRCm39)	R1923S	unknown	Het
Pcm1	T	C	8: 41,729,002 (GRCm39)	V658A	probably benign	Het
Pkhd1l1	A	G	15: 44,322,791 (GRCm39)	S26G	probably benign	Het
Prom1	A	T	5: 44,184,081 (GRCm39)	H433Q	possibly damaging	Het
Rab7	T	C	6: 87,982,063 (GRCm39)	D104G	probably damaging	Het
Rabgap1l	A	G	1: 160,551,632 (GRCm39)	V282A	possibly damaging	Het
Rdh13	T	C	7: 4,430,666 (GRCm39)	E264G	possibly damaging	Het
Rock1	C	G	18: 10,070,263 (GRCm39)	R1270T	probably benign	Het
Sdhaf4	C	T	1: 24,035,370 (GRCm39)	G93R	probably damaging	Het
Sec24a	T	C	11: 51,595,228 (GRCm39)	T910A	probably benign	Het
Sesn1	A	G	10: 41,779,778 (GRCm39)	H345R	possibly damaging	Het
Snx4	T	A	16: 33,106,428 (GRCm39)		probably null	Het
Tchh	A	G	3: 93,351,439 (GRCm39)	E293G	unknown	Het
Ulk2	T	A	11: 61,682,335 (GRCm39)	T727S	probably benign	Het
Usp53	T	C	3: 122,729,706 (GRCm39)	E756G	probably damaging	Het
Vmn2r68	G	A	7: 84,871,123 (GRCm39)	A720V	probably benign	Het
Vmn2r79	A	G	7: 86,645,839 (GRCm39)	N56S	possibly damaging	Het
Washc5	A	T	15: 59,235,118 (GRCm39)	Y263*	probably null	Het
Zfp119b	A	T	17: 56,245,639 (GRCm39)	C516S	probably damaging	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
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
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'- GTTGCATGATGAGGCTGACC -3'
(R):5'- TTCCTGAAGCTGTAGATCAAAGG -3'

Sequencing Primer
(F):5'- CCTGCAGTAGCACTTACA -3'
(R):5'- TCAAAGGATTGAGCATGGGTACC -3'

Posted On

2014-10-02