Mutagenetix > Incidental Mutation

Incidental Mutation 'R8177:Or6a2'

634417

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

067602-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

R8177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106600082-106601812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 106600663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 135 (L135V)

Ref Sequence

ENSEMBL: ENSMUSP00000091656 (fasta)

Gene Model

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

AlphaFold

Q9QWU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000094109
AA Change: L135V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091656
Gene: ENSMUSG00000070417
AA Change: L135V

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 damaging
Transcript: ENSMUST00000207280
AA Change: L135V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208147

Predicted Effect

probably damaging
Transcript: ENSMUST00000211432
AA Change: L135V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,439,174 (GRCm39)	Y127*	probably null	Het
Abcb5	C	T	12: 118,836,525 (GRCm39)	V1129I	possibly damaging	Het
Abcc2	A	G	19: 43,795,519 (GRCm39)	D425G	probably damaging	Het
Adamts15	T	A	9: 30,833,322 (GRCm39)	D71V	probably damaging	Het
Add1	A	G	5: 34,774,049 (GRCm39)	H435R	possibly damaging	Het
Akr1c19	A	G	13: 4,292,591 (GRCm39)	N204S	probably benign	Het
Ankub1	C	A	3: 57,597,837 (GRCm39)	R44S	possibly damaging	Het
Ano3	T	A	2: 110,496,801 (GRCm39)	N783Y	probably damaging	Het
Bbs9	A	G	9: 22,425,359 (GRCm39)	M138V	probably benign	Het
Ccdc18	G	A	5: 108,345,661 (GRCm39)	E936K	possibly damaging	Het
Cit	T	G	5: 116,126,218 (GRCm39)	L1604V	probably benign	Het
Col2a1	T	A	15: 97,874,654 (GRCm39)	S1396C	unknown	Het
Col3a1	G	C	1: 45,374,924 (GRCm39)	G653R	unknown	Het
Col6a1	T	C	10: 76,560,863 (GRCm39)	E45G	probably damaging	Het
Col9a3	T	A	2: 180,249,450 (GRCm39)	F271I	probably damaging	Het
Cyp2g1	C	A	7: 26,518,578 (GRCm39)	D364E	probably damaging	Het
Dmbt1	T	A	7: 130,708,162 (GRCm39)	V1457D	possibly damaging	Het
Dnah17	A	T	11: 118,019,753 (GRCm39)	I98N	possibly damaging	Het
Dyrk1b	T	A	7: 27,882,601 (GRCm39)	M222K	possibly damaging	Het
Epha8	T	C	4: 136,672,974 (GRCm39)	D270G	probably benign	Het
Fbxw17	T	C	13: 50,579,660 (GRCm39)	L159P	probably damaging	Het
Fgl2	G	A	5: 21,578,307 (GRCm39)		probably null	Het
Fmnl1	A	T	11: 103,080,785 (GRCm39)	M309L	probably damaging	Het
Fn1	T	C	1: 71,648,746 (GRCm39)	I1479V	probably benign	Het
Gm11939	A	T	11: 99,450,124 (GRCm39)	S57T	possibly damaging	Het
Gm9195	C	T	14: 72,697,977 (GRCm39)	A1268T	possibly damaging	Het
Gnpda1	A	G	18: 38,466,348 (GRCm39)	W90R	possibly damaging	Het
Igkv5-43	T	A	6: 69,800,445 (GRCm39)	R81W	probably damaging	Het
Mapk3	T	A	7: 126,362,937 (GRCm39)	W230R	probably null	Het
Mplkip	A	G	13: 17,870,205 (GRCm39)	S46G	probably benign	Het
Mrs2	T	C	13: 25,188,961 (GRCm39)	T118A	probably benign	Het
Mst1r	T	A	9: 107,784,784 (GRCm39)	H147Q	probably damaging	Het
Muc5ac	G	C	7: 141,361,068 (GRCm39)	G1460R	probably damaging	Het
Myorg	G	T	4: 41,497,568 (GRCm39)	Y687*	probably null	Het
Naip1	T	C	13: 100,563,911 (GRCm39)	H418R	probably benign	Het
Ncapg	A	G	5: 45,851,095 (GRCm39)	T763A	probably benign	Het
Nr6a1	T	C	2: 38,619,510 (GRCm39)	I462V	probably benign	Het
Nudcd3	T	C	11: 6,143,460 (GRCm39)	D70G	possibly damaging	Het
Nup210	A	G	6: 90,991,470 (GRCm39)	S1858P	probably benign	Het
Or12e13	T	A	2: 87,663,512 (GRCm39)	I43N	probably benign	Het
Or5aq1	C	A	2: 86,966,294 (GRCm39)	V124L	possibly damaging	Het
Or6c205	A	G	10: 129,086,790 (GRCm39)	H129R	probably benign	Het
Or8k33	T	A	2: 86,383,623 (GRCm39)	I282F	noncoding transcript	Het
Pde4dip	T	C	3: 97,674,848 (GRCm39)	T23A	probably damaging	Het
Pex6	A	G	17: 47,024,988 (GRCm39)	Q347R	probably benign	Het
Rbm27	A	G	18: 42,457,175 (GRCm39)	K694R	probably damaging	Het
Rnf40	T	G	7: 127,195,322 (GRCm39)	D549E	probably benign	Het
Rpl22	A	G	4: 152,411,968 (GRCm39)	K15E	probably damaging	Het
Rsph6a	T	A	7: 18,808,164 (GRCm39)	D697E	unknown	Het
Sec23b	C	T	2: 144,427,543 (GRCm39)	P590L	probably benign	Het
Semp2l1	T	C	1: 32,585,457 (GRCm39)	E151G	probably benign	Het
Slc17a7	T	A	7: 44,824,356 (GRCm39)	M524K	probably benign	Het
Slc28a1	G	A	7: 80,814,164 (GRCm39)	D454N	probably benign	Het
Slc6a13	C	T	6: 121,301,987 (GRCm39)	R190*	probably null	Het
Slc7a9	G	A	7: 35,155,558 (GRCm39)	V257I	probably benign	Het
Slco1a6	T	A	6: 142,047,460 (GRCm39)	M377L	probably damaging	Het
Slit3	A	G	11: 35,469,919 (GRCm39)	E307G	probably damaging	Het
Smchd1	A	G	17: 71,697,448 (GRCm39)	M1164T	probably benign	Het
Stk4	T	C	2: 163,930,777 (GRCm39)	I126T	probably damaging	Het
Syndig1	A	T	2: 149,741,788 (GRCm39)	S125C	probably damaging	Het
Synm	T	C	7: 67,383,813 (GRCm39)	D1283G	probably benign	Het
Tmprss6	T	C	15: 78,349,327 (GRCm39)	M73V	probably benign	Het
Tmprss9	A	G	10: 80,730,882 (GRCm39)	I803V	probably benign	Het
Tmx4	A	T	2: 134,485,822 (GRCm39)	V35E	probably damaging	Het
Topbp1	T	G	9: 103,197,740 (GRCm39)	S440A	probably benign	Het
Twf1	T	C	15: 94,482,276 (GRCm39)	I157V	possibly damaging	Het
Vmn1r205	T	C	13: 22,776,415 (GRCm39)	N229S	probably benign	Het
Vmn1r27	T	A	6: 58,192,759 (GRCm39)	I82L	probably benign	Het
Vmn2r112	A	G	17: 22,822,594 (GRCm39)	N424S	possibly damaging	Het
Vmn2r68	A	T	7: 84,871,422 (GRCm39)	Y620*	probably null	Het
Zfp51	A	G	17: 21,684,129 (GRCm39)	D248G	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
R9666:Or6a2	UTSW	7	106,600,099 (GRCm39)	missense	probably benign	0.03
R9787:Or6a2	UTSW	7	106,600,899 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGCTCTGCTGTGGACATGTC -3'
(R):5'- TCCTGGAGATTTGGTATGTCAC -3'

Sequencing Primer
(F):5'- TCAGTGCATGACAAGTTGAGC -3'
(R):5'- GTCACTGTTACGATTCCTAAGATGC -3'

Posted On

2020-07-13