Mutagenetix > Incidental Mutation

Incidental Mutation 'R2363:Or6f2'

247223

Institutional Source

Beutler Lab

Gene Symbol

Or6f2

Ensembl Gene

ENSMUSG00000051051

Gene Name

olfactory receptor family 6 subfamily F member 2

Synonyms

Olfr523, GA_x6K02T2PBJ9-42327937-42328872, MOR104-4

MMRRC Submission

040344-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2363 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139756017-139756970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139756878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 282 (T282A)

Ref Sequence

ENSEMBL: ENSMUSP00000149562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055890] [ENSMUST00000209314] [ENSMUST00000213953] [ENSMUST00000214272] [ENSMUST00000215785] [ENSMUST00000216023]

AlphaFold

Q8VFE7

Predicted Effect

probably damaging
Transcript: ENSMUST00000055890
AA Change: T288A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052678
Gene: ENSMUSG00000051051
AA Change: T288A

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
Pfam:7tm_4	40	317	1.6e-50	PFAM
Pfam:7tm_1	50	299	1.6e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209314
AA Change: T282A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213953
AA Change: T282A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214272
AA Change: T282A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215785
AA Change: T282A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216023
AA Change: T282A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.3180

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (51/52)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	C	2: 103,397,528 (GRCm39)	C153R	probably damaging	Het
Adam23	A	G	1: 63,596,650 (GRCm39)		probably null	Het
Adpgk	G	T	9: 59,222,136 (GRCm39)	M354I	probably benign	Het
Atmin	G	T	8: 117,681,653 (GRCm39)		probably null	Het
C1rl	G	A	6: 124,486,069 (GRCm39)	G480D	probably benign	Het
C4b	G	A	17: 34,955,032 (GRCm39)		probably benign	Het
Cacnb1	G	A	11: 97,903,672 (GRCm39)	T127I	possibly damaging	Het
Cmya5	A	T	13: 93,230,210 (GRCm39)	V1626E	probably benign	Het
Cndp2	C	T	18: 84,686,694 (GRCm39)	G443S	probably damaging	Het
Crb1	A	G	1: 139,265,016 (GRCm39)	I134T	possibly damaging	Het
Dnaaf3	T	C	7: 4,535,276 (GRCm39)		probably null	Het
Enam	C	T	5: 88,651,008 (GRCm39)	P764L	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbln1	G	A	15: 85,111,341 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,945,950 (GRCm38)	I2452V	possibly damaging	Het
Fmo3	A	T	1: 162,781,884 (GRCm39)	W490R	probably damaging	Het
Gabrb1	C	T	5: 72,026,916 (GRCm39)	R106*	probably null	Het
Galnt4	C	T	10: 98,944,923 (GRCm39)	T216I	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Golph3	A	G	15: 12,349,649 (GRCm39)	D223G	probably benign	Het
Herc4	T	A	10: 63,151,473 (GRCm39)	F905I	possibly damaging	Het
Il23r	T	C	6: 67,429,401 (GRCm39)	T314A	probably benign	Het
Lrrtm4	T	C	6: 79,998,857 (GRCm39)	W90R	probably damaging	Het
Maml2	C	T	9: 13,532,541 (GRCm39)	T585I	probably damaging	Het
Mpp3	G	A	11: 101,911,312 (GRCm39)	A170V	probably damaging	Het
Naip6	T	A	13: 100,452,928 (GRCm39)	K44N	possibly damaging	Het
Or10aa3	C	T	1: 173,878,814 (GRCm39)	R292C	probably damaging	Het
Or10ak7	C	T	4: 118,791,230 (GRCm39)	E272K	probably benign	Het
Or1e17	A	G	11: 73,831,182 (GRCm39)	T37A	possibly damaging	Het
Or4k51	C	T	2: 111,585,139 (GRCm39)	P182S	probably damaging	Het
Or51b6	T	A	7: 103,556,267 (GRCm39)	M207K	probably benign	Het
Or7e165	T	G	9: 19,694,892 (GRCm39)	I154M	probably benign	Het
Or8c10	T	C	9: 38,279,394 (GRCm39)	I174T	probably damaging	Het
Pak1	T	A	7: 97,535,521 (GRCm39)	V204E	probably benign	Het
Pcdhb10	T	A	18: 37,547,190 (GRCm39)	C755*	probably null	Het
Pcdhb20	A	G	18: 37,638,725 (GRCm39)	Y417C	probably damaging	Het
Pkd1l3	G	T	8: 110,355,341 (GRCm39)	W723L	probably benign	Het
Plin1	C	T	7: 79,376,139 (GRCm39)		probably null	Het
Polr3a	A	T	14: 24,525,960 (GRCm39)		probably null	Het
Ranbp2	A	T	10: 58,314,758 (GRCm39)	K1826I	possibly damaging	Het
Rapgef1	A	G	2: 29,626,608 (GRCm39)	I970V	possibly damaging	Het
Rdx	C	A	9: 51,980,173 (GRCm39)	F255L	probably damaging	Het
Rp1l1	A	T	14: 64,267,447 (GRCm39)	H1011L	possibly damaging	Het
Serpina6	T	C	12: 103,614,868 (GRCm39)	D326G	probably benign	Het
Sh3tc2	A	G	18: 62,123,966 (GRCm39)	E909G	probably benign	Het
Shprh	T	A	10: 11,047,697 (GRCm39)	V1015D	probably damaging	Het
Slfn8	A	T	11: 82,894,920 (GRCm39)	Y629N	probably damaging	Het
Triml1	A	G	8: 43,594,408 (GRCm39)	S8P	probably damaging	Het

Other mutations in Or6f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Or6f2	APN	7	139,756,528 (GRCm39)	missense	probably damaging	1.00
IGL01759:Or6f2	APN	7	139,756,447 (GRCm39)	missense	probably benign	0.00
D3080:Or6f2	UTSW	7	139,756,275 (GRCm39)	missense	possibly damaging	0.94
R0503:Or6f2	UTSW	7	139,756,354 (GRCm39)	missense	possibly damaging	0.95
R1644:Or6f2	UTSW	7	139,756,561 (GRCm39)	missense	probably benign	0.12
R1760:Or6f2	UTSW	7	139,756,188 (GRCm39)	missense	probably damaging	1.00
R1852:Or6f2	UTSW	7	139,756,474 (GRCm39)	nonsense	probably null
R1960:Or6f2	UTSW	7	139,756,596 (GRCm39)	missense	probably benign	0.37
R3700:Or6f2	UTSW	7	139,756,127 (GRCm39)	missense	possibly damaging	0.54
R4626:Or6f2	UTSW	7	139,756,359 (GRCm39)	missense	probably damaging	1.00
R4678:Or6f2	UTSW	7	139,756,141 (GRCm39)	missense	probably benign	0.21
R4779:Or6f2	UTSW	7	139,756,363 (GRCm39)	missense	probably damaging	1.00
R4999:Or6f2	UTSW	7	139,756,933 (GRCm39)	missense	probably damaging	1.00
R5663:Or6f2	UTSW	7	139,756,234 (GRCm39)	missense	probably damaging	1.00
R7352:Or6f2	UTSW	7	139,756,438 (GRCm39)	missense	probably damaging	1.00
R8525:Or6f2	UTSW	7	139,756,255 (GRCm39)	missense	probably damaging	0.99
R8976:Or6f2	UTSW	7	139,756,885 (GRCm39)	missense	probably damaging	0.96
R9034:Or6f2	UTSW	7	139,756,884 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGGTATCACACTAGTCTCCTATGC -3'
(R):5'- AAGGGTGCAGATCACTGACTG -3'

Sequencing Primer
(F):5'- AGTCTCCTATGCCTACATCATCAC -3'
(R):5'- TGACTGACACTAGTCCAATCTGG -3'

Posted On

2014-10-30