Mutagenetix > Incidental Mutation

Incidental Mutation 'R5082:Or6b6'

387189

Institutional Source

Beutler Lab

Gene Symbol

Or6b6

Ensembl Gene

ENSMUSG00000045013

Gene Name

olfactory receptor family 6 subfamily B member 6

Synonyms

MOR103-4, Olfr711, GA_x6K02T2PBJ9-9352783-9351839

MMRRC Submission

042671-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106570575-106574658 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106570871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 227 (R227C)

Ref Sequence

ENSEMBL: ENSMUSP00000149016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051715] [ENSMUST00000207200] [ENSMUST00000216335]

AlphaFold

Q9EPG2

Predicted Effect

probably benign
Transcript: ENSMUST00000051715
AA Change: R227C

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

SMART Domains

Protein: ENSMUSP00000055724
Gene: ENSMUSG00000045013
AA Change: R227C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.5e-58	PFAM
Pfam:7tm_1	41	290	1.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207200
AA Change: R227C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000216335
AA Change: R227C

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.3%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,022,694 (GRCm39)	M1015L	probably benign	Het
Aftph	T	C	11: 20,677,100 (GRCm39)	S170G	probably damaging	Het
Aox4	C	T	1: 58,270,642 (GRCm39)	P274S	possibly damaging	Het
Ash1l	G	A	3: 88,873,541 (GRCm39)	R108Q	probably damaging	Het
Aspm	T	A	1: 139,406,414 (GRCm39)	L1767*	probably null	Het
Baz2b	T	A	2: 59,731,835 (GRCm39)	K2068*	probably null	Het
Bcl9	A	T	3: 97,117,218 (GRCm39)	V492D	probably damaging	Het
Bicc1	G	T	10: 70,776,352 (GRCm39)	H782Q	probably benign	Het
Cabin1	T	A	10: 75,574,164 (GRCm39)	I640F	probably damaging	Het
Ccng1	A	G	11: 40,643,015 (GRCm39)	V144A	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Ddx1	G	T	12: 13,270,436 (GRCm39)	C668*	probably null	Het
Dhx58	G	A	11: 100,587,802 (GRCm39)	S585L	probably benign	Het
Dnttip2	A	T	3: 122,069,590 (GRCm39)	K268N	probably damaging	Het
Ecd	C	T	14: 20,374,436 (GRCm39)		probably null	Het
Entpd1	A	G	19: 40,713,473 (GRCm39)		probably null	Het
Erlin2	T	C	8: 27,523,435 (GRCm39)	V224A	probably damaging	Het
Exoc3l4	A	G	12: 111,394,424 (GRCm39)	S515G	probably benign	Het
Fcho1	T	C	8: 72,169,829 (GRCm39)	D98G	possibly damaging	Het
Fhod1	T	A	8: 106,057,145 (GRCm39)	D943V	probably damaging	Het
Gm10322	A	T	10: 59,452,090 (GRCm39)	E69V	possibly damaging	Het
Gm14295	T	A	2: 176,499,210 (GRCm39)	L19*	probably null	Het
Gm7347	T	A	5: 26,262,372 (GRCm39)	R50*	probably null	Het
Hesx1	T	C	14: 26,722,731 (GRCm39)	C19R	probably benign	Het
Hgh1	T	A	15: 76,253,752 (GRCm39)	F199L	probably benign	Het
Irak2	T	C	6: 113,649,805 (GRCm39)	F147L	probably damaging	Het
Kif22	G	A	7: 126,632,549 (GRCm39)	R254C	possibly damaging	Het
Klhl9	A	T	4: 88,639,622 (GRCm39)	S206R	probably damaging	Het
Maip1	T	C	1: 57,451,010 (GRCm39)		probably null	Het
Mcm9	T	A	10: 53,414,156 (GRCm39)	E308V	possibly damaging	Het
Mfsd13b	A	T	7: 120,598,201 (GRCm39)	N369I	possibly damaging	Het
Mga	T	A	2: 119,733,825 (GRCm39)	H224Q	probably damaging	Het
Mtss1	A	T	15: 58,842,868 (GRCm39)	W115R	probably damaging	Het
Myo3b	T	C	2: 70,088,374 (GRCm39)	V851A	probably benign	Het
Nectin2	A	T	7: 19,472,049 (GRCm39)	D113E	probably damaging	Het
Notch2	G	A	3: 98,007,690 (GRCm39)	C480Y	probably damaging	Het
Or8b55	T	C	9: 38,727,441 (GRCm39)	I214T	possibly damaging	Het
Pfdn1	G	T	18: 36,537,466 (GRCm39)	N111K	probably damaging	Het
Pfkl	A	T	10: 77,832,242 (GRCm39)	V283E	probably damaging	Het
Plbd2	G	T	5: 120,629,249 (GRCm39)	S305*	probably null	Het
Prom1	T	C	5: 44,158,174 (GRCm39)		probably null	Het
Ptbp2	T	A	3: 119,546,613 (GRCm39)	M90L	probably benign	Het
Rai1	G	A	11: 60,076,745 (GRCm39)	E270K	possibly damaging	Het
Rbbp6	G	A	7: 122,599,925 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,101,075 (GRCm39)	M3399V	probably benign	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Sh2d2a	A	G	3: 87,759,091 (GRCm39)	D231G	probably benign	Het
Smn1	T	C	13: 100,273,890 (GRCm39)		probably benign	Het
Snrnp200	C	T	2: 127,068,290 (GRCm39)	Q877*	probably null	Het
Taf2	G	T	15: 54,923,441 (GRCm39)	H279N	probably benign	Het
Tnfaip3	T	C	10: 18,881,032 (GRCm39)	Y345C	probably damaging	Het
Vmn2r68	C	T	7: 84,883,076 (GRCm39)	M225I	probably benign	Het
Vps13a	A	T	19: 16,722,257 (GRCm39)	W352R	probably damaging	Het

Other mutations in Or6b6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02600:Or6b6	APN	7	106,570,756 (GRCm39)	missense	possibly damaging	0.51
R0087:Or6b6	UTSW	7	106,571,323 (GRCm39)	missense	probably benign	0.01
R0580:Or6b6	UTSW	7	106,571,447 (GRCm39)	missense	probably damaging	1.00
R1375:Or6b6	UTSW	7	106,571,305 (GRCm39)	missense	probably damaging	1.00
R1538:Or6b6	UTSW	7	106,571,190 (GRCm39)	nonsense	probably null
R1875:Or6b6	UTSW	7	106,571,389 (GRCm39)	missense	possibly damaging	0.86
R2156:Or6b6	UTSW	7	106,570,775 (GRCm39)	missense	probably damaging	1.00
R4290:Or6b6	UTSW	7	106,570,918 (GRCm39)	missense	probably damaging	0.97
R4332:Or6b6	UTSW	7	106,571,354 (GRCm39)	missense	probably benign	0.00
R4400:Or6b6	UTSW	7	106,571,209 (GRCm39)	missense	probably damaging	1.00
R4688:Or6b6	UTSW	7	106,571,068 (GRCm39)	missense	probably benign	0.02
R4868:Or6b6	UTSW	7	106,570,974 (GRCm39)	missense	probably benign
R4970:Or6b6	UTSW	7	106,570,778 (GRCm39)	missense	probably benign	0.35
R5006:Or6b6	UTSW	7	106,570,808 (GRCm39)	missense	probably damaging	1.00
R5121:Or6b6	UTSW	7	106,571,438 (GRCm39)	missense	probably benign
R6465:Or6b6	UTSW	7	106,571,419 (GRCm39)	missense	possibly damaging	0.63
R6541:Or6b6	UTSW	7	106,571,410 (GRCm39)	missense	probably benign	0.20
R7419:Or6b6	UTSW	7	106,571,353 (GRCm39)	missense	probably benign	0.01
R8048:Or6b6	UTSW	7	106,571,671 (GRCm39)	start gained	probably benign
R9310:Or6b6	UTSW	7	106,570,678 (GRCm39)	missense	probably damaging	1.00
R9470:Or6b6	UTSW	7	106,571,461 (GRCm39)	missense	probably benign	0.26
R9603:Or6b6	UTSW	7	106,571,103 (GRCm39)	nonsense	probably null
Z1177:Or6b6	UTSW	7	106,571,122 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATTGCATCCTTGACTTCCCGG -3'
(R):5'- TTCTGTGGCTCCAATGTCATG -3'

Sequencing Primer
(F):5'- CCGGTTCCTTAGGCAGTAGATGAAG -3'
(R):5'- GTGGCTCCAATGTCATGAACCAC -3'

Posted On

2016-06-06