Mutagenetix > Incidental Mutation

Incidental Mutation 'RF011:Or5be3'

603184

Institutional Source

Beutler Lab

Gene Symbol

Or5be3

Ensembl Gene

ENSMUSG00000075165

Gene Name

olfactory receptor family 5 subfamily BE member 3

Synonyms

Olfr1105, GA_x6K02T2Q125-48521031-48520093, MOR0-6P, MOR172-7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

RF011 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86863625-86864563 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86864385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 60 (Y60F)

Ref Sequence

ENSEMBL: ENSMUSP00000149148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099868] [ENSMUST00000215978]

AlphaFold

Q7TR58

Predicted Effect

probably damaging
Transcript: ENSMUST00000099868
AA Change: Y60F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097453
Gene: ENSMUSG00000075165
AA Change: Y60F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	308	5.2e-47	PFAM
Pfam:7TM_GPCR_Srsx	35	305	5.5e-6	PFAM
Pfam:7tm_1	41	308	5.2e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215978
AA Change: Y60F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.0%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,891,290 (GRCm39)		probably benign	Het
A030005L19Rik	TGCTG	TGCTGTGGCGGCTG	1: 82,891,307 (GRCm39)		probably benign	Het
A030005L19Rik	TGGCTGCTG	TGGCTGCTGGGGCTGCTG	1: 82,891,294 (GRCm39)		probably benign	Het
AI837181	GCG	GCGTCG	19: 5,475,264 (GRCm39)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,479,405 (GRCm39)		probably benign	Het
Aqp2	T	C	15: 99,481,753 (GRCm39)	S216P	probably damaging	Het
Brd10	T	C	19: 29,721,009 (GRCm39)	K672R	possibly damaging	Het
Cacna1f	GGA	GGAAGA	X: 7,486,295 (GRCm39)		probably benign	Het
Ccdc170	CCA	CCAGCA	10: 4,511,018 (GRCm39)		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,619,810 (GRCm39)		probably benign	Het
Cela2a	T	C	4: 141,549,026 (GRCm39)	N117D	probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,811,774 (GRCm39)		probably benign	Het
Cyb5r2	A	T	7: 107,350,375 (GRCm39)	S235R	probably benign	Het
Dnmt1	CACAGTTCCTACCTCGTT	CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT	9: 20,821,424 (GRCm39)		probably null	Het
Dnmt1	TT	TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT	9: 20,821,440 (GRCm39)		probably null	Het
E4f1	CCG	CCGTCG	17: 24,674,160 (GRCm39)		probably benign	Het
Fam171b	TCCAGCA	TCCAGCACCAGCA	2: 83,643,217 (GRCm39)		probably benign	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Fam81b	CTGTT	CTGTTGTT	13: 76,419,435 (GRCm39)		probably benign	Het
Fkbp1a	GCCGCCGCCA	G	2: 151,384,619 (GRCm39)		probably null	Het
Flii	G	A	11: 60,607,069 (GRCm39)	A969V	probably benign	Het
Fscb	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	12: 64,519,768 (GRCm39)		probably benign	Het
Gas1	G	GAAA	13: 60,324,345 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,767,220 (GRCm39)	D115G	probably null	Het
Guca2b	G	T	4: 119,514,044 (GRCm39)	T89N	possibly damaging	Het
Hcn4	T	A	9: 58,767,198 (GRCm39)	S920T	unknown	Het
Heatr1	A	G	13: 12,422,425 (GRCm39)	M484V	probably benign	Het
Iba57	G	T	11: 59,054,438 (GRCm39)	A27E	probably benign	Het
Ifi207	G	C	1: 173,556,687 (GRCm39)	L684V	not run	Het
Ints13	T	C	6: 146,457,738 (GRCm39)	H380R	probably damaging	Het
Jmjd1c	C	T	10: 67,055,978 (GRCm39)	T466I	possibly damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Kif12	C	CCTCCACCCGGCGGGG	4: 63,089,664 (GRCm39)		probably benign	Het
Kmt2c	A	T	5: 25,543,457 (GRCm39)	D1399E	probably damaging	Het
Macf1	A	T	4: 123,367,648 (GRCm39)	L2371Q	probably damaging	Het
Mbd1	GTCTTCGTCTGCATCTGCATCTGCATCT	GTCT	18: 74,406,681 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,401 (GRCm39)		probably benign	Het
Mgam	C	A	6: 40,734,370 (GRCm39)	Q1472K	probably damaging	Het
Mup21	TATACTT	TATACTTTTTAGATACTT	4: 62,067,582 (GRCm39)		probably benign	Het
Nalf2	CGCCGC	CGCCGCAGCCGC	X: 98,864,967 (GRCm39)		probably benign	Het
Nipal1	A	G	5: 72,824,156 (GRCm39)	N167D	probably damaging	Het
Or4d10c	C	T	19: 12,065,611 (GRCm39)	V182I	probably benign	Het
Osbpl3	CCTGCA	C	6: 50,325,118 (GRCm39)		probably benign	Het
Phf20	CCCCCCCCC	CCCCCCCCCCCCCCCC	2: 156,146,540 (GRCm39)		probably benign	Het
Phf20	CCCCCCCC	CCCCCCCCCCCCCCC	2: 156,146,541 (GRCm39)		probably benign	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,756,780 (GRCm39)		probably benign	Het
Rbm33	CCAGCCGCAGC	CCAGC	5: 28,599,179 (GRCm39)		probably benign	Het
Rubcnl	T	C	14: 75,281,878 (GRCm39)	F445S	probably damaging	Het
S100a10	TTTTTTTA	T	3: 93,471,541 (GRCm39)		probably benign	Het
Sbp	AA	AAAATGCTGACAACGGA	17: 24,164,328 (GRCm39)		probably benign	Het
Sec14l3	A	C	11: 4,017,963 (GRCm39)	Q81P	possibly damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,515 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,796 (GRCm39)		probably benign	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,825,401 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,968,811 (GRCm39)		probably benign	Het
Tox2	A	G	2: 163,067,484 (GRCm39)	I68V	probably benign	Het
Triml2	G	T	8: 43,636,201 (GRCm39)		probably benign	Het
Tspan33	A	G	6: 29,716,729 (GRCm39)	Y162C	probably damaging	Het
Zfp384	GGCCCAGGCCCA	GGCCCAGGCCCAAGCCCAGGCCCA	6: 125,013,439 (GRCm39)		probably benign	Het
Zfp948	T	C	17: 21,808,574 (GRCm39)	Y589H	probably damaging	Het
Zic1	T	C	9: 91,246,383 (GRCm39)	I230V	probably benign	Het

Other mutations in Or5be3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01673:Or5be3	APN	2	86,863,731 (GRCm39)	missense	probably damaging	1.00
IGL02029:Or5be3	APN	2	86,864,245 (GRCm39)	missense	probably benign	0.00
IGL02332:Or5be3	APN	2	86,864,556 (GRCm39)	missense	probably benign	0.32
3-1:Or5be3	UTSW	2	86,864,028 (GRCm39)	missense	probably damaging	1.00
R0060:Or5be3	UTSW	2	86,864,118 (GRCm39)	missense	probably damaging	1.00
R0060:Or5be3	UTSW	2	86,864,118 (GRCm39)	missense	probably damaging	1.00
R0100:Or5be3	UTSW	2	86,863,939 (GRCm39)	missense	probably benign	0.01
R0100:Or5be3	UTSW	2	86,863,939 (GRCm39)	missense	probably benign	0.01
R0417:Or5be3	UTSW	2	86,863,789 (GRCm39)	missense	probably damaging	0.99
R0573:Or5be3	UTSW	2	86,863,812 (GRCm39)	missense	probably damaging	1.00
R0589:Or5be3	UTSW	2	86,864,459 (GRCm39)	nonsense	probably null
R0630:Or5be3	UTSW	2	86,863,653 (GRCm39)	missense	probably benign	0.05
R0690:Or5be3	UTSW	2	86,864,226 (GRCm39)	missense	probably damaging	1.00
R3929:Or5be3	UTSW	2	86,864,428 (GRCm39)	missense	possibly damaging	0.88
R4563:Or5be3	UTSW	2	86,864,028 (GRCm39)	missense	probably damaging	1.00
R4718:Or5be3	UTSW	2	86,864,239 (GRCm39)	missense	probably damaging	0.99
R6362:Or5be3	UTSW	2	86,863,633 (GRCm39)	missense	probably benign	0.11
R8867:Or5be3	UTSW	2	86,863,803 (GRCm39)	missense	probably damaging	1.00
R9430:Or5be3	UTSW	2	86,864,253 (GRCm39)	missense	probably damaging	0.99
Z1176:Or5be3	UTSW	2	86,863,831 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCTGTAGTAAAGCGGACTGC -3'
(R):5'- TGGCTGACAGAAATCTGACTG -3'

Sequencing Primer
(F):5'- GATACCGATCATAGGCCATTGCAG -3'
(R):5'- GCTGACAGAAATCTGACTGTGATAAC -3'

Posted On

2019-12-04