Mutagenetix > Incidental Mutation

Incidental Mutation 'R4430:Or5b104'

328585

Institutional Source

Beutler Lab

Gene Symbol

Or5b104

Ensembl Gene

ENSMUSG00000061637

Gene Name

olfactory receptor family 5 subfamily B member 104

Synonyms

MOR202-20, Olfr1457, GA_x6K02T2RE5P-3423041-3422097

MMRRC Submission

041700-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13072057-13073010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13072452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 187 (V187I)

Ref Sequence

ENSEMBL: ENSMUSP00000150957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075170] [ENSMUST00000208913] [ENSMUST00000214561] [ENSMUST00000215229]

AlphaFold

Q8VFK3

Predicted Effect

probably benign
Transcript: ENSMUST00000075170
AA Change: V187I

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000074665
Gene: ENSMUSG00000061637
AA Change: V187I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	3.6e-45	PFAM
Pfam:7tm_1	42	291	9.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208913
AA Change: V14I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000214561
AA Change: V14I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000215229
AA Change: V187I

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,963,348 (GRCm39)	N926S	unknown	Het
Ahi1	T	A	10: 20,847,977 (GRCm39)	C462S	probably damaging	Het
Ahnak	A	G	19: 8,980,404 (GRCm39)	I563V	probably benign	Het
Ankrd55	G	A	13: 112,459,717 (GRCm39)		probably null	Het
Bag3	A	G	7: 128,125,647 (GRCm39)	D22G	probably damaging	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705 (GRCm39)	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,198,004 (GRCm39)	I166T	probably benign	Het
Dnah11	T	C	12: 117,946,746 (GRCm39)	I3113V	probably benign	Het
Gli2	T	C	1: 118,764,974 (GRCm39)	H1059R	probably benign	Het
Gm14412	C	A	2: 177,007,625 (GRCm39)	S90I	probably benign	Het
L1td1	A	G	4: 98,625,388 (GRCm39)	R528G	probably benign	Het
Mcm3	A	T	1: 20,882,217 (GRCm39)	L449*	probably null	Het
Mif4gd	T	C	11: 115,499,328 (GRCm39)	T185A	probably benign	Het
Mphosph9	T	C	5: 124,403,509 (GRCm39)	S840G	possibly damaging	Het
Nherf4	C	T	9: 44,161,041 (GRCm39)	S175N	probably benign	Het
Nim1k	C	A	13: 120,174,078 (GRCm39)	R272L	possibly damaging	Het
Or6c213	T	A	10: 129,574,130 (GRCm39)	I219F	probably damaging	Het
Or8k32	A	G	2: 86,368,731 (GRCm39)	I176T	probably damaging	Het
Pax3	A	G	1: 78,171,961 (GRCm39)	V83A	probably damaging	Het
Pde3b	C	T	7: 114,133,905 (GRCm39)	P974S	probably damaging	Het
Pglyrp3	T	A	3: 91,938,798 (GRCm39)	D324E	probably damaging	Het
Pus7	A	G	5: 23,951,487 (GRCm39)	Y521H	probably benign	Het
Ryr2	A	G	13: 11,750,413 (GRCm39)	S1953P	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sox5	A	G	6: 143,987,000 (GRCm39)	I188T	possibly damaging	Het
Spata4	T	C	8: 55,054,878 (GRCm39)	I86T	probably benign	Het
Ssc5d	T	C	7: 4,946,663 (GRCm39)	S1006P	probably benign	Het
Stk10	T	C	11: 32,483,552 (GRCm39)	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 132,849,972 (GRCm39)	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,826,262 (GRCm39)	N412Y	probably damaging	Het
Tert	T	A	13: 73,775,594 (GRCm39)	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem201	A	C	4: 149,815,596 (GRCm39)	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473 (GRCm39)	N785I	possibly damaging	Het
Trhde	A	T	10: 114,339,028 (GRCm39)	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,401,951 (GRCm39)	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,614,817 (GRCm39)	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,519,449 (GRCm39)	M503K	probably benign	Het
Zfp54	T	G	17: 21,655,222 (GRCm39)	V572G	probably damaging	Het

Other mutations in Or5b104

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Or5b104	APN	19	13,072,476 (GRCm39)	missense	probably damaging	1.00
IGL01815:Or5b104	APN	19	13,073,020 (GRCm39)	splice site	probably null
IGL02033:Or5b104	APN	19	13,072,221 (GRCm39)	missense	possibly damaging	0.54
R0490:Or5b104	UTSW	19	13,072,176 (GRCm39)	missense	probably damaging	1.00
R1205:Or5b104	UTSW	19	13,072,899 (GRCm39)	missense	probably benign	0.01
R1299:Or5b104	UTSW	19	13,072,494 (GRCm39)	missense	possibly damaging	0.78
R1782:Or5b104	UTSW	19	13,072,167 (GRCm39)	missense	probably damaging	0.99
R1983:Or5b104	UTSW	19	13,072,748 (GRCm39)	missense	probably benign	0.01
R2364:Or5b104	UTSW	19	13,072,118 (GRCm39)	missense	probably damaging	1.00
R3815:Or5b104	UTSW	19	13,072,277 (GRCm39)	missense	probably damaging	0.98
R4092:Or5b104	UTSW	19	13,072,790 (GRCm39)	missense	probably damaging	0.97
R7200:Or5b104	UTSW	19	13,072,596 (GRCm39)	missense	probably benign	0.04
R8079:Or5b104	UTSW	19	13,072,648 (GRCm39)	nonsense	probably null
R8497:Or5b104	UTSW	19	13,072,707 (GRCm39)	missense	probably benign
R8949:Or5b104	UTSW	19	13,072,490 (GRCm39)	start codon destroyed	probably null	0.00
R9336:Or5b104	UTSW	19	13,072,513 (GRCm39)	missense	probably benign	0.04
R9534:Or5b104	UTSW	19	13,072,121 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGCAGCAAATACATGAATATG -3'
(R):5'- CCATTGCACTATGCCAGCAC -3'

Sequencing Primer
(F):5'- GCAGCAAATACATGAATATGACAGTC -3'
(R):5'- TTGCACTATGCCAGCACTATGAC -3'

Posted On

2015-07-21