Mutagenetix > Incidental Mutation

Incidental Mutation 'R3930:Or6n2'

308403

Institutional Source

Beutler Lab

Gene Symbol

Or6n2

Ensembl Gene

ENSMUSG00000050134

Gene Name

olfactory receptor family 6 subfamily N member 2

Synonyms

GA_x6K02T2P20D-21108443-21107490, MOR105-5P, Olfr430

MMRRC Submission

040917-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R3930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173896866-173897819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 173897147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 94 (F94L)

Ref Sequence

ENSEMBL: ENSMUSP00000150930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055873] [ENSMUST00000213425] [ENSMUST00000214390]

AlphaFold

E9Q5F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000055873
AA Change: F94L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130615
Gene: ENSMUSG00000050134
AA Change: F94L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.4e-65	PFAM
Pfam:7tm_1	41	290	9.9e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213425
AA Change: F94L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214390
AA Change: F94L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1752

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	C	T	4: 144,396,698 (GRCm39)	E345K	probably damaging	Het
Bpifb1	A	G	2: 154,057,242 (GRCm39)	N400S	possibly damaging	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Crhr1	T	A	11: 104,044,377 (GRCm39)	S22T	probably benign	Het
Cyp4a10	G	T	4: 115,381,980 (GRCm39)	V221L	probably benign	Het
D1Pas1	G	T	1: 186,700,477 (GRCm39)	W135C	probably damaging	Het
Dcbld2	T	C	16: 58,285,701 (GRCm39)	L620P	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnm3	T	C	1: 161,911,699 (GRCm39)	D66G	probably damaging	Het
Fzd10	G	A	5: 128,679,476 (GRCm39)	V399M	probably damaging	Het
Gm10801	T	A	2: 98,494,361 (GRCm39)	I146N	possibly damaging	Het
Gm525	T	A	11: 88,965,830 (GRCm39)		probably null	Het
Gpr37l1	T	C	1: 135,089,100 (GRCm39)	I322V	probably benign	Het
Grid2ip	T	G	5: 143,371,794 (GRCm39)	S679R	probably damaging	Het
Gyg1	A	T	3: 20,209,189 (GRCm39)	S15T	probably benign	Het
Hace1	G	A	10: 45,587,604 (GRCm39)	C901Y	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hp1bp3	C	T	4: 137,949,018 (GRCm39)	A27V	probably benign	Het
Hsf5	A	G	11: 87,522,508 (GRCm39)	Y367C	probably damaging	Het
Igf2r	T	C	17: 12,924,716 (GRCm39)	I1034V	probably benign	Het
Itpr1	A	G	6: 108,371,802 (GRCm39)	T1159A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc14	T	C	15: 76,597,765 (GRCm39)	V165A	probably benign	Het
Lrrc45	C	T	11: 120,609,503 (GRCm39)	A422V	probably benign	Het
Lrrk2	T	A	15: 91,651,664 (GRCm39)		probably null	Het
Map3k4	T	C	17: 12,454,880 (GRCm39)	H1370R	possibly damaging	Het
Mpo	A	G	11: 87,691,866 (GRCm39)	Y433C	probably damaging	Het
Nfkbil1	G	T	17: 35,439,932 (GRCm39)	Q194K	probably benign	Het
Nin	C	T	12: 70,125,016 (GRCm39)	G102E	probably damaging	Het
Nmt1	T	C	11: 102,943,059 (GRCm39)	V138A	probably benign	Het
Optc	T	A	1: 133,828,920 (GRCm39)	R176*	probably null	Het
Or10aa3	A	T	1: 173,878,076 (GRCm39)	I46F	probably damaging	Het
Or4c110	A	G	2: 88,832,377 (GRCm39)	F85S	probably benign	Het
Or52ae9	A	C	7: 103,389,794 (GRCm39)	Y218D	probably damaging	Het
Oxct1	T	A	15: 4,066,601 (GRCm39)	N72K	possibly damaging	Het
Plxna2	G	A	1: 194,477,218 (GRCm39)	A1243T	probably benign	Het
Rin1	G	T	19: 5,103,002 (GRCm39)	L430F	probably benign	Het
Ros1	A	T	10: 52,070,944 (GRCm39)	S37T	possibly damaging	Het
Rrp36	G	T	17: 46,983,732 (GRCm39)	Q27K	probably damaging	Het
Sez6	T	C	11: 77,867,708 (GRCm39)	I875T	probably damaging	Het
Sfrp5	T	G	19: 42,190,257 (GRCm39)	Y65S	probably damaging	Het
Slc25a54	T	A	3: 109,023,820 (GRCm39)	L472I	probably benign	Het
Slc35d3	T	C	10: 19,724,605 (GRCm39)	E417G	probably damaging	Het
Sumf2	A	G	5: 129,878,820 (GRCm39)	D52G	probably benign	Het
Sympk	A	G	7: 18,781,447 (GRCm39)	N801S	possibly damaging	Het
Taf7l2	G	T	10: 115,948,540 (GRCm39)	Q329K	possibly damaging	Het
Tcstv2c	G	A	13: 120,616,368 (GRCm39)	C69Y	probably damaging	Het
Tmem38b	T	C	4: 53,854,398 (GRCm39)	F210S	probably damaging	Het
Tnks	T	A	8: 35,407,966 (GRCm39)	H254L	probably damaging	Het
Trappc10	A	T	10: 78,046,237 (GRCm39)	V451E	probably benign	Het
Trim43a	A	T	9: 88,465,131 (GRCm39)	I153F	probably benign	Het
Tulp1	T	C	17: 28,572,683 (GRCm39)	N213S	probably damaging	Het
Ubr1	T	C	2: 120,746,951 (GRCm39)	D830G	probably benign	Het
Uqcc3	C	T	19: 8,858,069 (GRCm39)		probably null	Het
Vmn2r26	T	A	6: 124,002,938 (GRCm39)	M116K	probably benign	Het
Zscan12	A	G	13: 21,552,800 (GRCm39)	Q208R	probably benign	Het

Other mutations in Or6n2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Or6n2	APN	1	173,897,632 (GRCm39)	missense	probably benign	0.00
IGL02279:Or6n2	APN	1	173,896,957 (GRCm39)	missense	probably null	1.00
IGL02537:Or6n2	APN	1	173,897,020 (GRCm39)	missense	possibly damaging	0.63
R0323:Or6n2	UTSW	1	173,896,893 (GRCm39)	missense	probably benign
R0627:Or6n2	UTSW	1	173,897,643 (GRCm39)	missense	probably damaging	1.00
R1079:Or6n2	UTSW	1	173,897,032 (GRCm39)	missense	possibly damaging	0.95
R1757:Or6n2	UTSW	1	173,897,224 (GRCm39)	missense	probably damaging	1.00
R1902:Or6n2	UTSW	1	173,897,692 (GRCm39)	missense	probably damaging	0.96
R3804:Or6n2	UTSW	1	173,897,474 (GRCm39)	missense	probably damaging	1.00
R3927:Or6n2	UTSW	1	173,896,878 (GRCm39)	missense	probably damaging	1.00
R3931:Or6n2	UTSW	1	173,897,147 (GRCm39)	missense	probably damaging	1.00
R4111:Or6n2	UTSW	1	173,896,999 (GRCm39)	missense	probably damaging	1.00
R4210:Or6n2	UTSW	1	173,897,574 (GRCm39)	missense	probably damaging	0.98
R4383:Or6n2	UTSW	1	173,897,043 (GRCm39)	missense	probably benign	0.34
R4651:Or6n2	UTSW	1	173,897,394 (GRCm39)	missense	possibly damaging	0.54
R5097:Or6n2	UTSW	1	173,897,095 (GRCm39)	missense	probably benign	0.22
R5385:Or6n2	UTSW	1	173,897,036 (GRCm39)	missense	probably benign	0.31
R5722:Or6n2	UTSW	1	173,897,436 (GRCm39)	missense	probably damaging	1.00
R6608:Or6n2	UTSW	1	173,897,295 (GRCm39)	missense	probably benign	0.00
R6643:Or6n2	UTSW	1	173,897,611 (GRCm39)	missense	probably damaging	1.00
R7316:Or6n2	UTSW	1	173,897,727 (GRCm39)	missense	probably benign	0.00
R7532:Or6n2	UTSW	1	173,897,664 (GRCm39)	missense	probably benign	0.37
R8141:Or6n2	UTSW	1	173,897,488 (GRCm39)	missense	probably damaging	0.99
R9102:Or6n2	UTSW	1	173,897,176 (GRCm39)	missense	probably damaging	1.00
R9351:Or6n2	UTSW	1	173,897,021 (GRCm39)	missense	probably benign	0.00
Z1088:Or6n2	UTSW	1	173,897,515 (GRCm39)	missense	probably damaging	1.00
Z1176:Or6n2	UTSW	1	173,897,080 (GRCm39)	missense	probably damaging	0.99
Z1176:Or6n2	UTSW	1	173,896,897 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAACACATCAGAAGCTGCC -3'
(R):5'- GATGTGTCTTTGCAGGCCAG -3'

Sequencing Primer
(F):5'- GAACACATCAGAAGCTGCCTTTTTG -3'
(R):5'- CTTTGCAGGCCAGGCTCAAAAG -3'

Posted On

2015-04-17