Mutagenetix > Incidental Mutation

Incidental Mutation 'R8842:Or1n1'

674460

Institutional Source

Beutler Lab

Gene Symbol

Or1n1

Ensembl Gene

ENSMUSG00000075383

Gene Name

olfactory receptor family 1 subfamily N member 1

Synonyms

Olfr351, MOR127-2, GA_x6K02T2NLDC-33554926-33553994

MMRRC Submission

068669-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R8842 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36749426-36750358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36749539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 274 (A274S)

Ref Sequence

ENSEMBL: ENSMUSP00000149369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100150] [ENSMUST00000213676] [ENSMUST00000215137]

AlphaFold

Q8VGK1

Predicted Effect

probably benign
Transcript: ENSMUST00000100150
AA Change: A274S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097727
Gene: ENSMUSG00000075383
AA Change: A274S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.7e-56	PFAM
Pfam:7tm_1	39	288	5.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213676
AA Change: A274S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000215137
AA Change: A274S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.1%

Validation Efficiency

100% (50/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap17	G	A	7: 122,893,750 (GRCm39)	P557S	probably benign	Het
Atad5	G	T	11: 80,000,910 (GRCm39)	D1014Y	possibly damaging	Het
Bmp6	T	A	13: 38,530,359 (GRCm39)	S151T	probably benign	Het
Bmp6	C	T	13: 38,682,795 (GRCm39)	Q459*	probably null	Het
Ccdc39	A	G	3: 33,880,612 (GRCm39)	Y452H	probably damaging	Het
Cenpj	A	G	14: 56,780,329 (GRCm39)	Y961H	probably damaging	Het
Col6a6	A	T	9: 105,655,166 (GRCm39)	Y852N	probably damaging	Het
Cpne8	A	G	15: 90,456,218 (GRCm39)	I156T	probably benign	Het
Cul1	T	A	6: 47,492,010 (GRCm39)	L430Q	probably damaging	Het
Dhx30	A	G	9: 109,914,296 (GRCm39)	S1031P	probably benign	Het
Dhx9	A	T	1: 153,338,335 (GRCm39)	F774I	possibly damaging	Het
Fezf2	A	C	14: 12,345,079 (GRCm38)	M36R	probably damaging	Het
Gbp2b	A	T	3: 142,312,576 (GRCm39)	I320L	probably benign	Het
Gemin6	T	A	17: 80,533,115 (GRCm39)	V16D	possibly damaging	Het
Gpr158	T	A	2: 21,581,751 (GRCm39)	V410D	possibly damaging	Het
H2-DMb2	C	T	17: 34,366,904 (GRCm39)	T112M	probably damaging	Het
Hecw2	T	C	1: 53,990,033 (GRCm39)	T114A		Het
Herc2	G	T	7: 55,738,059 (GRCm39)	R234L	probably damaging	Het
Igsf11	A	G	16: 38,829,243 (GRCm39)	I46V	probably benign	Het
Izumo1r	C	T	9: 14,813,705 (GRCm39)	G38S	possibly damaging	Het
Katna1	A	G	10: 7,614,600 (GRCm39)	D36G	probably benign	Het
Kdm1b	G	T	13: 47,231,832 (GRCm39)	R697L	probably damaging	Het
Kif1b	T	A	4: 149,338,196 (GRCm39)	I483F	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrp1b	G	A	2: 41,158,417 (GRCm39)	T1714I		Het
Man2a2	A	G	7: 80,003,067 (GRCm39)	L1014P	probably damaging	Het
Marf1	T	C	16: 13,935,169 (GRCm39)	E1533G	probably damaging	Het
Mfsd2a	A	T	4: 122,845,623 (GRCm39)	I176N	probably damaging	Het
Mterf1b	T	A	5: 4,246,961 (GRCm39)	F201I	possibly damaging	Het
Neurod2	T	C	11: 98,218,507 (GRCm39)	E219G	probably damaging	Het
Nln	T	C	13: 104,209,486 (GRCm39)	E29G	probably benign	Het
Obscn	G	A	11: 58,892,861 (GRCm39)	T6795M	possibly damaging	Het
Or1e1c	G	T	11: 73,266,186 (GRCm39)	V207F	probably benign	Het
Or1i2	A	G	10: 78,447,635 (GRCm39)	V280A	possibly damaging	Het
Or4c118	C	T	2: 88,975,074 (GRCm39)	V98I	probably benign	Het
Otog	A	T	7: 45,895,948 (GRCm39)	I138F	probably damaging	Het
Pdcd2l	G	A	7: 33,884,192 (GRCm39)	Q337*	probably null	Het
Ptprk	A	T	10: 28,442,497 (GRCm39)	N859I	probably damaging	Het
Pygl	G	T	12: 70,274,368 (GRCm39)		probably benign	Het
Sema4d	C	T	13: 51,863,018 (GRCm39)	A447T	probably benign	Het
Slc27a6	A	T	18: 58,712,888 (GRCm39)	S237C	probably benign	Het
Smarcc1	G	A	9: 110,051,199 (GRCm39)	M1006I	possibly damaging	Het
Sult2a2	G	T	7: 13,472,192 (GRCm39)	G130C	probably damaging	Het
Trpm7	T	A	2: 126,663,131 (GRCm39)	H1039L	probably benign	Het
Wdr64	T	G	1: 175,599,893 (GRCm39)	N573K	probably benign	Het
Zbtb48	T	C	4: 152,104,496 (GRCm39)	I611V	probably benign	Het
Zer1	T	C	2: 30,001,062 (GRCm39)	S120G	possibly damaging	Het
Zswim4	C	T	8: 84,940,699 (GRCm39)	R800Q	probably damaging	Het

Other mutations in Or1n1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01962:Or1n1	APN	2	36,749,787 (GRCm39)	missense	probably benign	0.04
IGL02481:Or1n1	APN	2	36,749,830 (GRCm39)	missense	probably damaging	0.96
IGL02673:Or1n1	APN	2	36,750,188 (GRCm39)	missense	probably benign	0.25
IGL02754:Or1n1	APN	2	36,750,232 (GRCm39)	missense	probably damaging	1.00
P0041:Or1n1	UTSW	2	36,749,473 (GRCm39)	missense	probably damaging	1.00
R1392:Or1n1	UTSW	2	36,750,187 (GRCm39)	missense	probably damaging	1.00
R1392:Or1n1	UTSW	2	36,750,187 (GRCm39)	missense	probably damaging	1.00
R2271:Or1n1	UTSW	2	36,749,637 (GRCm39)	missense	probably damaging	1.00
R2274:Or1n1	UTSW	2	36,750,113 (GRCm39)	missense	probably damaging	0.99
R3053:Or1n1	UTSW	2	36,749,959 (GRCm39)	missense	probably benign	0.06
R4712:Or1n1	UTSW	2	36,750,381 (GRCm39)	splice site	probably null
R5001:Or1n1	UTSW	2	36,750,082 (GRCm39)	missense	probably benign	0.00
R5364:Or1n1	UTSW	2	36,750,006 (GRCm39)	missense	probably damaging	1.00
R5502:Or1n1	UTSW	2	36,750,282 (GRCm39)	missense	probably damaging	0.98
R6048:Or1n1	UTSW	2	36,749,853 (GRCm39)	missense	probably benign	0.00
R6401:Or1n1	UTSW	2	36,750,177 (GRCm39)	nonsense	probably null
R7353:Or1n1	UTSW	2	36,749,680 (GRCm39)	nonsense	probably null
R7798:Or1n1	UTSW	2	36,750,348 (GRCm39)	missense	probably benign	0.01
R7934:Or1n1	UTSW	2	36,750,228 (GRCm39)	missense	possibly damaging	0.73
R8725:Or1n1	UTSW	2	36,749,610 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTAACTCGACATCAATCTTGTACC -3'
(R):5'- CAGTACTCATGGTCCCTTTTGTATG -3'

Sequencing Primer
(F):5'- TGCAACCTAAAATGAGAAGAAACTTG -3'
(R):5'- CATGGTCCCTTTTGTATGCATTG -3'

Posted On

2021-07-15