Mutagenetix > Incidental Mutation

Incidental Mutation 'R9666:Or6a2'

735713

Institutional Source

Beutler Lab

Gene Symbol

Or6a2

Ensembl Gene

ENSMUSG00000070417

Gene Name

olfactory receptor family 6 subfamily A member 2

Synonyms

Olfr41, Olfr2, I54, GA_x6K02T2PBJ9-9381439-9380456, MOR103-15, I7

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R9666 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106600082-106601812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106600099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 323 (S323T)

Ref Sequence

ENSEMBL: ENSMUSP00000091656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094109] [ENSMUST00000207280] [ENSMUST00000208147] [ENSMUST00000211432] [ENSMUST00000214105] [ENSMUST00000216375]

AlphaFold

Q9QWU6

Predicted Effect

probably benign
Transcript: ENSMUST00000094109
AA Change: S323T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000091656
Gene: ENSMUSG00000070417
AA Change: S323T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	313	9.2e-53	PFAM
Pfam:7tm_1	42	295	3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207280
AA Change: S323T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000208147
AA Change: S323T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000211432
AA Change: S323T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000214105
AA Change: S323T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000216375
AA Change: S323T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	C	A	12: 118,838,422 (GRCm39)	V1047L	probably damaging	Het
Akap6	G	A	12: 53,188,318 (GRCm39)	A1911T	probably benign	Het
Ank2	T	A	3: 126,726,838 (GRCm39)	K819*	probably null	Het
Apc2	A	G	10: 80,147,183 (GRCm39)	R746G	possibly damaging	Het
Baz1a	A	G	12: 54,988,345 (GRCm39)	I268T	probably benign	Het
Bysl	A	G	17: 47,914,865 (GRCm39)	I206T	probably benign	Het
Ccdc70	A	C	8: 22,463,357 (GRCm39)	E49A	possibly damaging	Het
Chd1	A	T	17: 15,955,976 (GRCm39)	H525L	probably damaging	Het
Col4a4	T	C	1: 82,496,670 (GRCm39)	E442G	unknown	Het
Cpd	G	A	11: 76,693,133 (GRCm39)	P718S	probably benign	Het
Dip2b	T	A	15: 100,107,461 (GRCm39)	I1391N	probably damaging	Het
Dpp9	T	C	17: 56,501,946 (GRCm39)	T541A	probably damaging	Het
Dst	C	T	1: 34,218,947 (GRCm39)	Q1796*	probably null	Het
Gm10267	T	C	18: 44,291,397 (GRCm39)	I25V	probably benign	Het
Gm32742	C	T	9: 51,061,441 (GRCm39)	R744Q	probably benign	Het
Gm37240	T	C	3: 84,422,952 (GRCm39)	Y139C	probably damaging	Het
Gm39115	A	G	7: 141,689,255 (GRCm39)	C173R	unknown	Het
Grm6	T	G	11: 50,750,877 (GRCm39)	V680G	probably damaging	Het
Grxcr2	C	T	18: 42,131,956 (GRCm39)	D38N	probably damaging	Het
Iah1	G	A	12: 21,366,587 (GRCm39)	R52H	probably damaging	Het
Ift43	A	G	12: 86,131,920 (GRCm39)	Y36C	possibly damaging	Het
Igf2r	T	C	17: 12,945,588 (GRCm39)	I334V	probably benign	Het
Igfn1	T	A	1: 135,897,692 (GRCm39)	Q958L	possibly damaging	Het
Il4i1	G	A	7: 44,489,263 (GRCm39)	A343T	possibly damaging	Het
Ints1	T	C	5: 139,748,217 (GRCm39)	I1128V	probably benign	Het
Irx1	C	A	13: 72,111,588 (GRCm39)	G7V	probably damaging	Het
Krr1	A	G	10: 111,818,896 (GRCm39)	R312G	possibly damaging	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,389,857 (GRCm39)		probably null	Het
Lpin2	A	T	17: 71,529,065 (GRCm39)	N108Y	probably damaging	Het
Man2a1	A	T	17: 64,943,557 (GRCm39)	E204V	possibly damaging	Het
Megf8	A	G	7: 25,030,166 (GRCm39)	T434A	possibly damaging	Het
Minar1	A	T	9: 89,484,072 (GRCm39)	S442T	probably benign	Het
Muc16	T	C	9: 18,567,285 (GRCm39)	T1745A	unknown	Het
Mycbp2	G	T	14: 103,371,474 (GRCm39)	P4135T	probably damaging	Het
Nuggc	T	C	14: 65,857,045 (GRCm39)	V398A	possibly damaging	Het
Or1e22	A	G	11: 73,376,885 (GRCm39)	I255T	probably damaging	Het
Or1e29	A	T	11: 73,667,976 (GRCm39)	M59K	probably damaging	Het
Or5w11	C	T	2: 87,459,152 (GRCm39)	A115V	possibly damaging	Het
Or6e1	G	T	14: 54,520,342 (GRCm39)	N3K	probably damaging	Het
Or6f1	A	G	7: 85,970,444 (GRCm39)	S239P	probably damaging	Het
Parg	A	G	14: 31,964,294 (GRCm39)	N653S	probably damaging	Het
Plek	A	G	11: 16,945,346 (GRCm39)	F18L	probably benign	Het
Pnoc	A	G	14: 65,639,247 (GRCm39)	I206T	possibly damaging	Het
Ppp4r3a	T	C	12: 101,049,129 (GRCm39)	M1V	probably null	Het
Pramel21	A	G	4: 143,341,699 (GRCm39)	T43A	probably benign	Het
Psg22	T	C	7: 18,458,248 (GRCm39)	V313A	probably benign	Het
Ptk2b	G	T	14: 66,409,546 (GRCm39)	P497T	probably damaging	Het
Rer1	A	G	4: 155,160,044 (GRCm39)		probably null	Het
Rnf130	A	G	11: 49,986,618 (GRCm39)	T321A	probably benign	Het
Rnf207	A	T	4: 152,397,717 (GRCm39)	F346I	probably damaging	Het
Rraga	T	A	4: 86,494,574 (GRCm39)	I140N	possibly damaging	Het
Rusc2	A	T	4: 43,416,262 (GRCm39)	M523L	probably benign	Het
Sh3bp1	T	A	15: 78,792,622 (GRCm39)	V495D	probably benign	Het
Slc44a5	T	C	3: 153,945,926 (GRCm39)	L153P	probably benign	Het
Spag16	T	C	1: 70,764,072 (GRCm39)	S631P	probably damaging	Het
Syne1	A	C	10: 4,984,937 (GRCm39)	L747R	probably damaging	Het
Tac1	A	G	6: 7,555,675 (GRCm39)	E21G	probably benign	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tln1	T	C	4: 43,542,957 (GRCm39)	D1344G	probably damaging	Het
Tnc	C	T	4: 63,926,045 (GRCm39)	E912K	probably damaging	Het
Trav16d-dv11	A	G	14: 53,285,037 (GRCm39)	T38A	probably benign	Het
Trbv15	T	A	6: 41,118,364 (GRCm39)	L40Q	probably damaging	Het
Trpa1	T	C	1: 14,973,455 (GRCm39)	I288V	possibly damaging	Het
Ttn	A	T	2: 76,604,941 (GRCm39)	I18331N	probably damaging	Het
Tubgcp2	A	T	7: 139,587,836 (GRCm39)	I263N	probably damaging	Het
Ugt8a	T	C	3: 125,708,957 (GRCm39)	H51R	probably benign	Het
Vmn2r2	T	C	3: 64,023,870 (GRCm39)	T904A	probably benign	Het
Zfp575	G	A	7: 24,285,323 (GRCm39)	T106M	probably damaging	Het
Zfp617	A	G	8: 72,686,539 (GRCm39)	T290A	probably benign	Het
Zfp809	T	C	9: 22,149,863 (GRCm39)	V120A	probably benign	Het

Other mutations in Or6a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02270:Or6a2	APN	7	106,600,630 (GRCm39)	missense	probably damaging	1.00
IGL02620:Or6a2	APN	7	106,600,825 (GRCm39)	nonsense	probably null
IGL02942:Or6a2	APN	7	106,600,561 (GRCm39)	missense	possibly damaging	0.88
R1171:Or6a2	UTSW	7	106,600,791 (GRCm39)	missense	probably benign
R1956:Or6a2	UTSW	7	106,600,342 (GRCm39)	missense	probably damaging	1.00
R2128:Or6a2	UTSW	7	106,600,455 (GRCm39)	missense	probably damaging	1.00
R2342:Or6a2	UTSW	7	106,600,116 (GRCm39)	missense	probably benign
R2351:Or6a2	UTSW	7	106,600,883 (GRCm39)	nonsense	probably null
R3752:Or6a2	UTSW	7	106,600,682 (GRCm39)	nonsense	probably null
R4197:Or6a2	UTSW	7	106,600,245 (GRCm39)	missense	probably damaging	0.97
R4237:Or6a2	UTSW	7	106,600,536 (GRCm39)	missense	probably damaging	1.00
R4787:Or6a2	UTSW	7	106,600,293 (GRCm39)	missense	probably benign	0.00
R4795:Or6a2	UTSW	7	106,600,542 (GRCm39)	missense	probably damaging	1.00
R4796:Or6a2	UTSW	7	106,600,542 (GRCm39)	missense	probably damaging	1.00
R5268:Or6a2	UTSW	7	106,600,111 (GRCm39)	missense	probably benign	0.00
R5412:Or6a2	UTSW	7	106,600,842 (GRCm39)	missense	probably damaging	0.99
R5474:Or6a2	UTSW	7	106,600,296 (GRCm39)	missense	probably damaging	0.98
R5542:Or6a2	UTSW	7	106,600,286 (GRCm39)	missense	probably damaging	1.00
R5792:Or6a2	UTSW	7	106,600,650 (GRCm39)	missense	possibly damaging	0.61
R6149:Or6a2	UTSW	7	106,600,807 (GRCm39)	missense	probably benign
R7552:Or6a2	UTSW	7	106,600,534 (GRCm39)	missense	probably benign
R7838:Or6a2	UTSW	7	106,600,514 (GRCm39)	nonsense	probably null
R8177:Or6a2	UTSW	7	106,600,663 (GRCm39)	missense	probably damaging	1.00
R9787:Or6a2	UTSW	7	106,600,899 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2022-11-14