Mutagenetix > Incidental Mutation

Incidental Mutation 'R8112:Or9i16'

630969

Institutional Source

Beutler Lab

Gene Symbol

Or9i16

Ensembl Gene

ENSMUSG00000059105

Gene Name

olfactory receptor family 9 subfamily I member 16

Synonyms

GA_x6K02T2RE5P-4223635-4222688, Olfr1504, MOR212-2

MMRRC Submission

067541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8112 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13864625-13865572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13864753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 274 (S274P)

Ref Sequence

ENSEMBL: ENSMUSP00000146610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078282] [ENSMUST00000209192]

AlphaFold

Q8VFQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000078282
AA Change: S274P

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

SMART Domains

Protein: ENSMUSP00000077400
Gene: ENSMUSG00000059105
AA Change: S274P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	4.3e-46	PFAM
Pfam:7tm_1	40	313	1.5e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209192
AA Change: S274P

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 95.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,264,624 (GRCm39)	V3002A	probably benign	Het
Aifm3	T	C	16: 17,320,804 (GRCm39)	V422A	probably damaging	Het
Alx3	G	T	3: 107,512,300 (GRCm39)	E313*	probably null	Het
Arfgef3	A	G	10: 18,528,379 (GRCm39)	V336A	possibly damaging	Het
Art5	A	T	7: 101,747,218 (GRCm39)	V187E	probably benign	Het
Atxn1	A	G	13: 45,721,433 (GRCm39)	V154A	probably benign	Het
B3galt1	A	G	2: 67,948,702 (GRCm39)	D139G	probably damaging	Het
Cbx5	A	G	15: 103,108,171 (GRCm39)	V158A	probably benign	Het
Cdca7l	T	C	12: 117,840,779 (GRCm39)		probably null	Het
Cecr2	T	C	6: 120,739,175 (GRCm39)	S1301P	probably benign	Het
Chmp3	T	A	6: 71,538,012 (GRCm39)	S80T	probably benign	Het
Cyp2g1	T	A	7: 26,518,886 (GRCm39)	D427E	probably benign	Het
Depdc5	G	A	5: 33,126,050 (GRCm39)	V1199I	possibly damaging	Het
Efcab3	T	C	11: 104,841,026 (GRCm39)	V3643A	unknown	Het
Ehmt1	G	T	2: 24,753,396 (GRCm39)	L335M	probably damaging	Het
Elfn2	A	G	15: 78,557,635 (GRCm39)	V304A	probably damaging	Het
Emc1	C	T	4: 139,094,498 (GRCm39)	R684W	probably benign	Het
Eme2	A	T	17: 25,113,809 (GRCm39)	V72E	probably damaging	Het
Gen1	T	A	12: 11,304,374 (GRCm39)	K230*	probably null	Het
Gfap	T	A	11: 102,787,928 (GRCm39)	I6F	probably benign	Het
Grid2	T	C	6: 63,885,891 (GRCm39)	S96P	probably damaging	Het
H2-M2	A	G	17: 37,794,383 (GRCm39)	L13P	unknown	Het
Hps4	T	G	5: 112,517,977 (GRCm39)	C323W	probably benign	Het
Ing3	A	G	6: 21,952,181 (GRCm39)	K52E	probably damaging	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Krt4	T	A	15: 101,828,724 (GRCm39)	N380I	probably damaging	Het
Lrp1	A	T	10: 127,441,715 (GRCm39)	C174S	probably damaging	Het
Lrrc8e	T	C	8: 4,285,575 (GRCm39)	I600T	probably benign	Het
Malt1	T	C	18: 65,582,680 (GRCm39)		probably null	Het
Mindy1	T	C	3: 95,202,122 (GRCm39)	L333P	probably damaging	Het
Mrgprb1	A	G	7: 48,097,682 (GRCm39)	S77P	probably damaging	Het
Mtus2	G	T	5: 148,013,713 (GRCm39)	E169*	probably null	Het
Muc5b	A	G	7: 141,415,765 (GRCm39)	T2904A	possibly damaging	Het
Noxa1	C	T	2: 24,982,553 (GRCm39)		probably null	Het
Ogfod3	G	A	11: 121,095,376 (GRCm39)	R5W	probably damaging	Het
Or4f59	T	A	2: 111,872,982 (GRCm39)	I132F	probably damaging	Het
Or7g35	T	A	9: 19,496,020 (GRCm39)	F62L	probably benign	Het
Pgm3	C	A	9: 86,446,828 (GRCm39)	R230L	probably benign	Het
Plpbp	A	G	8: 27,536,069 (GRCm39)	I121V	unknown	Het
Prl8a9	T	C	13: 27,743,355 (GRCm39)	D150G	probably benign	Het
Psapl1	A	G	5: 36,362,919 (GRCm39)	N504D	probably benign	Het
Ptchd4	A	C	17: 42,814,066 (GRCm39)	N656H	probably benign	Het
Ptprs	A	T	17: 56,741,532 (GRCm39)	Y577*	probably null	Het
Rasgef1c	A	G	11: 49,858,228 (GRCm39)	Y263C	probably damaging	Het
Rinl	A	G	7: 28,490,014 (GRCm39)		probably null	Het
Scd4	T	C	19: 44,325,945 (GRCm39)	F100L	probably benign	Het
Scgb2b20	T	G	7: 33,063,969 (GRCm39)	R100S	probably benign	Het
Scn8a	C	T	15: 100,927,718 (GRCm39)	A1399V	probably benign	Het
Slc22a7	A	G	17: 46,747,756 (GRCm39)	V267A	probably benign	Het
Slc7a11	T	C	3: 50,372,440 (GRCm39)	E263G	possibly damaging	Het
Slmap	A	G	14: 26,143,703 (GRCm39)	L728P	probably damaging	Het
Smarcb1	A	T	10: 75,745,986 (GRCm39)		probably null	Het
Sspn	T	C	6: 145,901,361 (GRCm39)	V80A	possibly damaging	Het
Tasor2	A	T	13: 3,619,516 (GRCm39)	D2238E	probably damaging	Het
Terb1	T	C	8: 105,195,399 (GRCm39)	T581A	probably benign	Het
Themis	A	G	10: 28,673,502 (GRCm39)	*596W	probably null	Het
Thoc2l	T	C	5: 104,669,501 (GRCm39)	F1341S	probably benign	Het
Trac	T	C	14: 54,460,557 (GRCm39)		probably benign	Het
Trim37	T	C	11: 87,109,093 (GRCm39)	F940S	possibly damaging	Het
Trpa1	T	C	1: 14,974,490 (GRCm39)	T231A	probably benign	Het
Ttn	T	C	2: 76,580,529 (GRCm39)	I23455V	probably benign	Het
Wap	G	T	11: 6,586,724 (GRCm39)	T125K	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Zfp85	T	C	13: 67,896,893 (GRCm39)	D393G	possibly damaging	Het

Other mutations in Or9i16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Or9i16	APN	19	13,864,945 (GRCm39)	missense	probably benign
IGL00885:Or9i16	APN	19	13,865,532 (GRCm39)	missense	probably benign	0.17
IGL01084:Or9i16	APN	19	13,864,866 (GRCm39)	missense	probably damaging	1.00
IGL01522:Or9i16	APN	19	13,864,722 (GRCm39)	nonsense	probably null
IGL01727:Or9i16	APN	19	13,865,242 (GRCm39)	missense	probably damaging	0.98
IGL02440:Or9i16	APN	19	13,865,223 (GRCm39)	missense	probably damaging	1.00
IGL03342:Or9i16	APN	19	13,864,801 (GRCm39)	missense	probably damaging	1.00
R0531:Or9i16	UTSW	19	13,865,116 (GRCm39)	missense	possibly damaging	0.62
R0577:Or9i16	UTSW	19	13,865,167 (GRCm39)	missense	probably damaging	1.00
R1028:Or9i16	UTSW	19	13,865,159 (GRCm39)	missense	probably damaging	0.97
R1674:Or9i16	UTSW	19	13,864,954 (GRCm39)	missense	probably benign	0.01
R3906:Or9i16	UTSW	19	13,865,070 (GRCm39)	missense	probably damaging	1.00
R4598:Or9i16	UTSW	19	13,865,381 (GRCm39)	missense	probably damaging	1.00
R4658:Or9i16	UTSW	19	13,864,912 (GRCm39)	missense	probably benign	0.19
R4676:Or9i16	UTSW	19	13,864,765 (GRCm39)	missense	probably damaging	1.00
R5919:Or9i16	UTSW	19	13,865,209 (GRCm39)	missense	probably damaging	1.00
R5943:Or9i16	UTSW	19	13,865,116 (GRCm39)	missense	possibly damaging	0.62
R9616:Or9i16	UTSW	19	13,864,861 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCAATTCTGAGAGCAAAGTC -3'
(R):5'- AGCTTGCCTGTAGTGAGACC -3'

Sequencing Primer
(F):5'- TATTAAGAAGATAAAGCAAAGGCCC -3'
(R):5'- CTTGCCTGTAGTGAGACCAAGTTAC -3'

Posted On

2020-06-30