Mutagenetix > Incidental Mutation

Incidental Mutation 'R0563:Or5b111'

46041

Institutional Source

Beutler Lab

Gene Symbol

Or5b111

Ensembl Gene

ENSMUSG00000062199

Gene Name

olfactory receptor family 5 subfamily B member 111

Synonyms

MOR202-28, GA_x6K02T2RE5P-3645346-3644423, Olfr1465

MMRRC Submission

038754-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R0563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13290724-13291647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13291112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 179 (I179T)

Ref Sequence

ENSEMBL: ENSMUSP00000146645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080142] [ENSMUST00000207340]

AlphaFold

Q7TQR2

Predicted Effect

probably benign
Transcript: ENSMUST00000080142
AA Change: I179T

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000079039
Gene: ENSMUSG00000062199
AA Change: I179T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	7.4e-47	PFAM
Pfam:7tm_1	39	288	3.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207340
AA Change: I179T

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1869

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,586,635 (GRCm39)	P146T	probably damaging	Het
Ambn	A	C	5: 88,611,309 (GRCm39)	N163T	probably benign	Het
Ankrd36	A	T	11: 5,579,322 (GRCm39)	E870D	probably benign	Het
Cdc123	T	C	2: 5,803,212 (GRCm39)	N269S	probably benign	Het
Cdc7	A	T	5: 107,120,776 (GRCm39)		probably benign	Het
Cdh2	A	T	18: 16,762,738 (GRCm39)	V402D	possibly damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Dcdc5	G	A	2: 106,180,035 (GRCm39)		noncoding transcript	Het
Eif4g3	T	C	4: 137,903,151 (GRCm39)		probably benign	Het
Elovl4	C	T	9: 83,667,087 (GRCm39)		probably null	Het
Fhl5	T	G	4: 25,213,610 (GRCm39)	I109L	probably damaging	Het
Gm16181	A	G	17: 35,442,872 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,585,483 (GRCm39)	Y287C	probably benign	Het
Greb1	A	T	12: 16,730,268 (GRCm39)	C1720S	probably benign	Het
Gypa	T	A	8: 81,236,089 (GRCm39)	S165T	probably benign	Het
Hephl1	T	C	9: 14,993,241 (GRCm39)	D531G	probably damaging	Het
Hsf2bp	A	T	17: 32,226,692 (GRCm39)	L221Q	probably damaging	Het
Itsn1	A	G	16: 91,617,684 (GRCm39)		probably benign	Het
Kif7	T	C	7: 79,352,020 (GRCm39)	E914G	probably benign	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrc28	T	C	7: 67,195,135 (GRCm39)	N225S	probably damaging	Het
Lysmd4	T	A	7: 66,875,925 (GRCm39)	L196Q	probably benign	Het
Megf8	T	C	7: 25,041,820 (GRCm39)	C1245R	probably damaging	Het
Mgat4f	A	G	1: 134,317,777 (GRCm39)	K183R	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mindy2	T	A	9: 70,538,334 (GRCm39)	I334L	possibly damaging	Het
Mrm1	A	G	11: 84,705,539 (GRCm39)	S287P	probably damaging	Het
Ncor1	A	G	11: 62,234,056 (GRCm39)	I382T	probably damaging	Het
Nectin1	A	G	9: 43,702,342 (GRCm39)	T30A	probably benign	Het
Nelfe	A	G	17: 35,073,215 (GRCm39)	E250G	possibly damaging	Het
Nsd1	C	A	13: 55,394,391 (GRCm39)	T767K	possibly damaging	Het
Or1i2	G	A	10: 78,448,467 (GRCm39)	P3S	probably benign	Het
Or1j18	A	T	2: 36,625,013 (GRCm39)	K227*	probably null	Het
Or4e5	T	A	14: 52,727,714 (GRCm39)	K236*	probably null	Het
Pcnx1	A	G	12: 81,964,718 (GRCm39)	D295G	probably damaging	Het
Pex14	A	G	4: 149,046,003 (GRCm39)	V309A	possibly damaging	Het
Phf14	C	T	6: 11,933,600 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,573,333 (GRCm39)	D399G	possibly damaging	Het
Prim1	A	G	10: 127,862,423 (GRCm39)	D340G	probably damaging	Het
Rb1	A	G	14: 73,454,207 (GRCm39)	F564L	probably damaging	Het
Rcc1l	G	C	5: 134,205,394 (GRCm39)	R54G	probably benign	Het
Rnf151	G	A	17: 24,936,430 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,192,048 (GRCm39)	L398P	probably damaging	Het
Robo1	C	T	16: 72,769,174 (GRCm39)	T531I	probably benign	Het
Rps6ka2	A	T	17: 7,521,836 (GRCm39)	I198F	probably damaging	Het
Sgk2	T	C	2: 162,846,164 (GRCm39)	L264P	probably damaging	Het
Slc26a6	T	A	9: 108,734,869 (GRCm39)	I281N	probably damaging	Het
Tnxb	A	T	17: 34,935,921 (GRCm39)	K2657N	probably benign	Het
Tor1aip1	G	A	1: 155,911,554 (GRCm39)	T143M	probably damaging	Het
Tpr	A	G	1: 150,284,609 (GRCm39)	D358G	probably benign	Het
Vstm2b	T	C	7: 40,551,899 (GRCm39)	S76P	probably damaging	Het
Wdr33	A	G	18: 32,019,792 (GRCm39)	K488R	possibly damaging	Het
Ythdc2	T	A	18: 44,997,915 (GRCm39)		probably benign	Het

Other mutations in Or5b111

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Or5b111	APN	19	13,291,490 (GRCm39)	missense	probably damaging	1.00
IGL01548:Or5b111	APN	19	13,291,350 (GRCm39)	missense	possibly damaging	0.95
IGL02548:Or5b111	APN	19	13,291,302 (GRCm39)	missense	probably damaging	0.98
IGL02663:Or5b111	APN	19	13,290,743 (GRCm39)	missense	probably benign	0.01
BB010:Or5b111	UTSW	19	13,291,569 (GRCm39)	missense	probably benign
BB020:Or5b111	UTSW	19	13,291,569 (GRCm39)	missense	probably benign
PIT4651001:Or5b111	UTSW	19	13,291,556 (GRCm39)	missense	probably benign	0.12
R1803:Or5b111	UTSW	19	13,291,535 (GRCm39)	missense	possibly damaging	0.90
R2146:Or5b111	UTSW	19	13,291,485 (GRCm39)	missense	probably benign	0.23
R4674:Or5b111	UTSW	19	13,291,178 (GRCm39)	missense	probably benign	0.17
R4697:Or5b111	UTSW	19	13,291,081 (GRCm39)	missense	probably benign	0.39
R4825:Or5b111	UTSW	19	13,291,684 (GRCm39)	splice site	probably null
R4884:Or5b111	UTSW	19	13,291,034 (GRCm39)	missense	probably benign	0.28
R5647:Or5b111	UTSW	19	13,291,553 (GRCm39)	missense	probably damaging	1.00
R6401:Or5b111	UTSW	19	13,290,878 (GRCm39)	missense	probably damaging	1.00
R6913:Or5b111	UTSW	19	13,290,998 (GRCm39)	missense	probably benign	0.01
R6996:Or5b111	UTSW	19	13,291,036 (GRCm39)	missense	probably benign	0.15
R7933:Or5b111	UTSW	19	13,291,569 (GRCm39)	missense	probably benign
R8946:Or5b111	UTSW	19	13,291,502 (GRCm39)	missense	probably damaging	0.97
R8966:Or5b111	UTSW	19	13,291,196 (GRCm39)	missense	probably damaging	1.00
R9641:Or5b111	UTSW	19	13,291,100 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTGGAGCTGGGCTGCAAATAC -3'
(R):5'- CCTTGCACTATGCCACCACTATGAC -3'

Sequencing Primer
(F):5'- GCACAAGTGGATACAGCCTTTC -3'
(R):5'- ACCACTATGACTTCAGGTGTG -3'

Posted On

2013-06-11