Mutagenetix > Incidental Mutation

Incidental Mutation 'R7262:Or4f6'

564674

Institutional Source

Beutler Lab

Gene Symbol

Or4f6

Ensembl Gene

ENSMUSG00000108827

Gene Name

olfactory receptor family 4 subfamily F member 6

Synonyms

Olfr1310, MOR245-3, GA_x6K02T2Q125-73056609-73055671

MMRRC Submission

045353-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R7262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111838591-111839529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111838902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 210 (S210P)

Ref Sequence

ENSEMBL: ENSMUSP00000149701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207169] [ENSMUST00000213559]

AlphaFold

Q8VF85

Predicted Effect

probably damaging
Transcript: ENSMUST00000207169
AA Change: S210P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213559
AA Change: S210P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.2567

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,946,137 (GRCm39)		probably null	Het
Adh5	C	A	3: 138,151,133 (GRCm39)	A32D	possibly damaging	Het
Ap1m2	A	G	9: 21,213,762 (GRCm39)	I295T	possibly damaging	Het
B230104I21Rik	T	C	4: 154,434,091 (GRCm39)	S92P	unknown	Het
Carnmt1	A	T	19: 18,655,228 (GRCm39)	N127I	probably benign	Het
Ccdc42	A	G	11: 68,485,399 (GRCm39)	T106A	probably damaging	Het
Cdcp1	T	C	9: 123,002,680 (GRCm39)	E797G	probably damaging	Het
Cep112	T	A	11: 108,555,467 (GRCm39)	V821D	probably damaging	Het
Cpvl	A	T	6: 53,909,500 (GRCm39)	V212D	probably damaging	Het
Cttnbp2nl	A	T	3: 104,940,062 (GRCm39)	N2K	probably damaging	Het
Cyp2c69	T	C	19: 39,875,176 (GRCm39)		probably benign	Het
Cyp2u1	T	C	3: 131,091,605 (GRCm39)	D305G	probably damaging	Het
Dab2ip	A	G	2: 35,512,298 (GRCm39)		probably null	Het
Ddx55	T	C	5: 124,704,919 (GRCm39)	L396P	probably benign	Het
Dhx34	G	A	7: 15,937,623 (GRCm39)	A786V	probably benign	Het
Efcab3	G	A	11: 104,745,432 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,768,474 (GRCm39)	L943*	probably null	Het
Epm2aip1	A	G	9: 111,101,728 (GRCm39)	T234A	probably benign	Het
Flot2	T	C	11: 77,948,175 (GRCm39)	M145T	probably damaging	Het
Fn3k	T	C	11: 121,339,741 (GRCm39)	F168L	probably damaging	Het
Gmfb	A	T	14: 47,052,386 (GRCm39)	C87S	probably damaging	Het
H2-M3	T	C	17: 37,582,084 (GRCm39)	F180S	probably damaging	Het
Havcr2	C	T	11: 46,360,388 (GRCm39)	T205I	probably benign	Het
Hdac3	C	T	18: 38,078,616 (GRCm39)	C123Y	probably damaging	Het
Itpk1	T	C	12: 102,641,712 (GRCm39)	E37G	possibly damaging	Het
Jmjd7	A	G	2: 119,862,467 (GRCm39)	H283R	probably benign	Het
Kif26b	T	C	1: 178,745,219 (GRCm39)	S1772P	possibly damaging	Het
Klhl6	T	C	16: 19,801,546 (GRCm39)	T70A	probably damaging	Het
Kntc1	C	A	5: 123,925,036 (GRCm39)	D1116E	probably benign	Het
Lama4	T	A	10: 38,970,930 (GRCm39)	H1498Q	probably damaging	Het
Lamp1	A	T	8: 13,217,296 (GRCm39)	T102S	probably benign	Het
Lrp8	A	G	4: 107,704,661 (GRCm39)	N168D	probably benign	Het
Ltbp1	G	T	17: 75,671,363 (GRCm39)	D1515Y	probably damaging	Het
Obscn	A	G	11: 59,006,715 (GRCm39)	V1149A	probably damaging	Het
Or10q1	A	T	19: 13,726,535 (GRCm39)	T22S	probably benign	Het
Or52ad1	T	C	7: 102,995,764 (GRCm39)	R124G	probably damaging	Het
Pak4	C	A	7: 28,264,625 (GRCm39)	M92I	possibly damaging	Het
Pam	T	C	1: 97,782,448 (GRCm39)	K157R		Het
Pcdh9	A	T	14: 93,253,141 (GRCm39)	V1174E	probably benign	Het
Phf8-ps	G	A	17: 33,285,971 (GRCm39)	T277I	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,069 (GRCm39)	D615G	probably benign	Het
Senp1	A	T	15: 97,964,379 (GRCm39)	D278E	probably benign	Het
Serpinc1	A	G	1: 160,817,229 (GRCm39)	N108D	probably damaging	Het
Srl	C	A	16: 4,315,415 (GRCm39)	A76S	probably damaging	Het
Tbc1d16	C	A	11: 119,045,921 (GRCm39)	V509L	probably benign	Het
Tbc1d24	A	G	17: 24,426,820 (GRCm39)	F357S	probably damaging	Het
Tcaf3	A	G	6: 42,570,735 (GRCm39)	L339P	probably damaging	Het
Tmem232	A	T	17: 65,807,112 (GRCm39)	I27N	probably benign	Het
Ubr2	T	C	17: 47,311,665 (GRCm39)	D62G	probably damaging	Het
Vcan	T	G	13: 89,853,280 (GRCm39)	D560A	possibly damaging	Het
Vmn2r80	T	A	10: 79,005,579 (GRCm39)	N405K	probably damaging	Het
Wdhd1	A	T	14: 47,489,430 (GRCm39)	I701K	probably benign	Het

Other mutations in Or4f6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01947:Or4f6	APN	2	111,839,361 (GRCm39)	missense	possibly damaging	0.86
IGL02700:Or4f6	APN	2	111,839,036 (GRCm39)	missense	probably benign	0.04
IGL03008:Or4f6	APN	2	111,838,868 (GRCm39)	missense	possibly damaging	0.95
IGL03121:Or4f6	APN	2	111,838,953 (GRCm39)	missense	probably benign	0.02
R0025:Or4f6	UTSW	2	111,839,365 (GRCm39)	missense	probably damaging	0.98
R1624:Or4f6	UTSW	2	111,838,877 (GRCm39)	missense	probably damaging	1.00
R1851:Or4f6	UTSW	2	111,839,036 (GRCm39)	missense	probably benign	0.04
R3872:Or4f6	UTSW	2	111,838,668 (GRCm39)	missense	possibly damaging	0.95
R3873:Or4f6	UTSW	2	111,838,668 (GRCm39)	missense	possibly damaging	0.95
R3874:Or4f6	UTSW	2	111,838,668 (GRCm39)	missense	possibly damaging	0.95
R4651:Or4f6	UTSW	2	111,838,595 (GRCm39)	missense	probably damaging	1.00
R4652:Or4f6	UTSW	2	111,838,595 (GRCm39)	missense	probably damaging	1.00
R4834:Or4f6	UTSW	2	111,839,276 (GRCm39)	missense	probably damaging	1.00
R5076:Or4f6	UTSW	2	111,838,937 (GRCm39)	missense	probably damaging	0.99
R7339:Or4f6	UTSW	2	111,838,820 (GRCm39)	missense	probably damaging	1.00
R7657:Or4f6	UTSW	2	111,839,093 (GRCm39)	missense	probably benign	0.02
R7798:Or4f6	UTSW	2	111,838,617 (GRCm39)	missense	probably benign
R7875:Or4f6	UTSW	2	111,839,192 (GRCm39)	missense	probably benign	0.32
R8869:Or4f6	UTSW	2	111,838,596 (GRCm39)	missense	possibly damaging	0.88
R9689:Or4f6	UTSW	2	111,839,124 (GRCm39)	missense	probably benign	0.29
X0027:Or4f6	UTSW	2	111,839,169 (GRCm39)	missense	probably damaging	1.00
Z1176:Or4f6	UTSW	2	111,838,802 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGATGTGATGTTGGAAATGGC -3'
(R):5'- CTACCTGACCATCATGAGCC -3'

Sequencing Primer
(F):5'- GATGTTGGAAATGGCCATGTATAG -3'
(R):5'- GGATTATTGGCTTCATCCACTCAGTG -3'

Posted On

2019-06-26