Mutagenetix > Incidental Mutation

Incidental Mutation 'T0722:Or1n2'

67323

Institutional Source

Beutler Lab

Gene Symbol

Or1n2

Ensembl Gene

ENSMUSG00000055088

Gene Name

olfactory receptor family 1 subfamily N member 2

Synonyms

GA_x6K02T2NLDC-33601476-33602429, MOR127-4, Olfr354

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

T0722 (G3) of strain 711

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36796960-36797913 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36797582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 208 (V208A)

Ref Sequence

ENSEMBL: ENSMUSP00000149298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068475] [ENSMUST00000217479]

AlphaFold

Q8VGJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000068475
AA Change: V208A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000068986
Gene: ENSMUSG00000055088
AA Change: V208A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	2.1e-62	PFAM
Pfam:7tm_1	44	293	2.9e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121665

Predicted Effect

probably benign
Transcript: ENSMUST00000217479
AA Change: V208A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218102

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

95% (42/44)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	G	12: 113,453,197 (GRCm39)	T5A	possibly damaging	Het
Adam6b	T	A	12: 113,454,888 (GRCm39)	D568E	probably benign	Het
Ago3	C	T	4: 126,298,056 (GRCm39)	V155I	probably benign	Het
Ago3	G	A	4: 126,298,103 (GRCm39)	A139V	probably benign	Het
Ago3	C	T	4: 126,298,098 (GRCm39)	A141T	probably benign	Het
Ago3	T	G	4: 126,298,089 (GRCm39)	T144P	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 132,790,065 (GRCm39)		probably benign	Het
Atp6v1g3	T	A	1: 138,201,591 (GRCm39)		probably benign	Het
Azin2	A	G	4: 128,839,927 (GRCm39)	Y222H	probably benign	Het
Bicd2	C	A	13: 49,533,127 (GRCm39)	P571Q	probably benign	Het
Camta2	A	G	11: 70,574,831 (GRCm39)	I75T	probably damaging	Het
Casp1	A	T	9: 5,299,851 (GRCm39)	H108L	probably benign	Het
Cdk5r1	G	T	11: 80,368,707 (GRCm39)	V125F	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 73,215,878 (GRCm39)		probably benign	Het
Cngb1	A	G	8: 96,023,278 (GRCm39)	M240T	probably benign	Het
Cngb1	G	A	8: 96,030,342 (GRCm39)		probably benign	Het
Cngb1	T	C	8: 96,030,324 (GRCm39)		probably benign	Het
Cngb1	G	T	8: 96,024,447 (GRCm39)	Q205K	probably damaging	Het
Cog8	G	T	8: 107,775,625 (GRCm39)	L580I	probably benign	Het
Copa	A	G	1: 171,939,515 (GRCm39)	E593G	possibly damaging	Het
Ctrc	T	TA	4: 141,572,507 (GRCm39)		probably null	Het
Cwf19l2	T	C	9: 3,456,755 (GRCm39)	F696S	probably benign	Het
Ddi2	G	A	4: 141,440,784 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,807,841 (GRCm39)	D984G	probably null	Het
Fam135b	T	G	15: 71,335,734 (GRCm39)	T487P	probably damaging	Het
Fstl3	A	G	10: 79,615,997 (GRCm39)	Y161C	probably damaging	Het
Gja4	G	C	4: 127,206,024 (GRCm39)	H246Q	probably benign	Het
Gm8186	C	T	17: 26,318,101 (GRCm39)	R32Q	probably benign	Het
Jakmip1	C	A	5: 37,276,247 (GRCm39)	A519D	probably damaging	Het
Jcad	G	T	18: 4,675,531 (GRCm39)	A1098S	probably benign	Het
Klhl14	T	C	18: 21,691,192 (GRCm39)	Y446C	probably damaging	Het
Lims1	A	G	10: 58,254,277 (GRCm39)	N344D	probably benign	Het
Marco	A	T	1: 120,402,441 (GRCm39)	W502R	probably damaging	Het
Mmp13	G	T	9: 7,280,857 (GRCm39)	M413I	possibly damaging	Het
Mmp25	G	A	17: 23,850,192 (GRCm39)	A456V	possibly damaging	Het
Msi2	A	T	11: 88,285,423 (GRCm39)	M207K	probably damaging	Het
Myh8	G	A	11: 67,195,262 (GRCm39)	R1692Q	probably benign	Het
Nbas	A	G	12: 13,402,809 (GRCm39)	I788V	probably benign	Het
Nup188	A	G	2: 30,212,693 (GRCm39)	D632G	probably damaging	Het
Opa1	T	C	16: 29,429,748 (GRCm39)		probably null	Het
Or12k7	T	G	2: 36,958,449 (GRCm39)	L44R	probably damaging	Het
Or4c114	A	G	2: 88,905,303 (GRCm39)	V44A	probably benign	Het
Or5w17	T	A	2: 87,583,467 (GRCm39)	Y290F	probably damaging	Het
Pabpc1l	G	A	2: 163,884,340 (GRCm39)	G359D	possibly damaging	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,359,292 (GRCm39)		probably benign	Het
Pomgnt1	C	T	4: 115,994,624 (GRCm39)		probably benign	Het
Psma5-ps	A	G	10: 85,149,457 (GRCm39)		noncoding transcript	Het
Qser1	A	G	2: 104,617,177 (GRCm39)	C1122R	possibly damaging	Het
Rfx8	A	G	1: 39,722,772 (GRCm39)	S282P	probably damaging	Het
Sec14l2	C	T	11: 4,053,673 (GRCm39)		probably null	Het
Sim2	C	A	16: 93,910,281 (GRCm39)	H228N	probably benign	Het
Slc15a2	A	G	16: 36,772,445 (GRCm38)	M179T	probably benign	Het
Slc30a6	T	A	17: 74,719,319 (GRCm39)		probably null	Het
Smarcc1	G	A	9: 110,035,153 (GRCm39)	E859K	possibly damaging	Het
Snx1	CTT	CTTGTT	9: 66,012,209 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,201,664 (GRCm39)	V2321A	probably benign	Het
Spta1	A	G	1: 174,018,632 (GRCm39)		probably benign	Het
Sytl1	C	A	4: 132,984,162 (GRCm39)		probably benign	Het
Sytl1	A	G	4: 132,984,164 (GRCm39)		probably benign	Het
Tent4a	G	A	13: 69,655,074 (GRCm39)	R224*	probably null	Het
Terf2	T	C	8: 107,803,306 (GRCm39)	K425E	probably benign	Het
Tmem26	A	G	10: 68,614,548 (GRCm39)	E321G	probably benign	Het
Toe1	T	C	4: 116,663,290 (GRCm39)	I62M	probably benign	Het
Uck2	A	T	1: 167,062,280 (GRCm39)	D149E	probably benign	Het
Wnt5a	G	A	14: 28,233,882 (GRCm39)	A17T	probably benign	Het
Yif1b	T	C	7: 28,938,038 (GRCm39)		probably null	Het
Zbtb8a	T	C	4: 129,254,005 (GRCm39)	H163R	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,253,812 (GRCm39)		probably benign	Het
Zkscan4	AGAGGAG	AGAG	13: 21,663,370 (GRCm39)		probably benign	Het
Zmym1	A	C	4: 126,943,466 (GRCm39)	H307Q	probably benign	Het
Zmym1	C	T	4: 126,941,740 (GRCm39)	D785N	probably benign	Het
Zmym1	C	T	4: 126,942,043 (GRCm39)	V684I	probably benign	Het

Other mutations in Or1n2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01942:Or1n2	APN	2	36,797,869 (GRCm39)	missense	probably benign
IGL02573:Or1n2	APN	2	36,797,566 (GRCm39)	missense	probably damaging	1.00
P0027:Or1n2	UTSW	2	36,797,582 (GRCm39)	missense	probably benign	0.00
R0040:Or1n2	UTSW	2	36,797,470 (GRCm39)	missense	probably damaging	1.00
R0610:Or1n2	UTSW	2	36,797,671 (GRCm39)	missense	probably damaging	1.00
R0760:Or1n2	UTSW	2	36,797,233 (GRCm39)	missense	probably benign	0.25
R1727:Or1n2	UTSW	2	36,797,405 (GRCm39)	missense	probably benign	0.00
R2972:Or1n2	UTSW	2	36,797,416 (GRCm39)	missense	probably benign	0.03
R4671:Or1n2	UTSW	2	36,797,405 (GRCm39)	missense	probably benign	0.00
R4750:Or1n2	UTSW	2	36,797,728 (GRCm39)	missense	probably benign	0.13
R5043:Or1n2	UTSW	2	36,796,977 (GRCm39)	missense	probably benign	0.01
R5400:Or1n2	UTSW	2	36,797,833 (GRCm39)	missense	probably damaging	1.00
R5543:Or1n2	UTSW	2	36,797,369 (GRCm39)	missense	possibly damaging	0.75
R5792:Or1n2	UTSW	2	36,797,113 (GRCm39)	missense	probably benign	0.00
R6639:Or1n2	UTSW	2	36,797,690 (GRCm39)	missense	probably damaging	1.00
R6876:Or1n2	UTSW	2	36,797,834 (GRCm39)	missense	probably damaging	1.00
R7965:Or1n2	UTSW	2	36,796,953 (GRCm39)	start gained	probably benign
R8351:Or1n2	UTSW	2	36,797,149 (GRCm39)	missense	probably benign	0.00
R8859:Or1n2	UTSW	2	36,797,516 (GRCm39)	missense	possibly damaging	0.63
Z1176:Or1n2	UTSW	2	36,797,713 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCTTATGCACACACTGCTGCTGAC -3'
(R):5'- ACAACCTGGAGGAGGTAAATGCCC -3'

Sequencing Primer
(F):5'- ACTGCTGCTGACCCGTG -3'
(R):5'- TCCTCAAGCTGTAGATGAATGG -3'

Posted On

2013-09-03