Mutagenetix > Incidental Mutation

Incidental Mutation 'R9399:Or8k16'

710978

Institutional Source

Beutler Lab

Gene Symbol

Or8k16

Ensembl Gene

ENSMUSG00000050603

Gene Name

olfactory receptor family 8 subfamily K member 16

Synonyms

Olfr1008, GA_x6K02T2Q125-47170431-47171372, MOR187-3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R9399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85519775-85520716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 85520395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 207 (L207F)

Ref Sequence

ENSEMBL: ENSMUSP00000061191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054868]

AlphaFold

Q8VGC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000054868
AA Change: L207F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061191
Gene: ENSMUSG00000050603
AA Change: L207F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.9e-46	PFAM
Pfam:7tm_1	41	290	2.4e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,384,615 (GRCm39)	L450R	probably damaging	Het
4933427I04Rik	T	A	4: 123,754,413 (GRCm39)	L109*	probably null	Het
Amotl2	T	C	9: 102,606,531 (GRCm39)	L576P	probably damaging	Het
Ankrd11	T	C	8: 123,618,179 (GRCm39)	N1891S	probably benign	Het
Arap2	T	A	5: 62,763,455 (GRCm39)	H1563L	possibly damaging	Het
Astn2	T	C	4: 65,664,588 (GRCm39)	T732A	possibly damaging	Het
Atp2b2	A	G	6: 113,780,713 (GRCm39)	I312T	probably benign	Het
Bcl9	C	T	3: 97,113,289 (GRCm39)	M1055I	probably benign	Het
Carm1	A	G	9: 21,486,791 (GRCm39)	N180D	possibly damaging	Het
Cd180	A	T	13: 102,842,021 (GRCm39)	T356S	probably benign	Het
Cdh18	A	C	15: 23,173,899 (GRCm39)	T38P	probably damaging	Het
Cdk7	G	T	13: 100,840,988 (GRCm39)	P308Q	probably damaging	Het
Chd5	C	T	4: 152,468,592 (GRCm39)	A1715V	probably benign	Het
Clptm1	A	T	7: 19,367,842 (GRCm39)	V590D	probably damaging	Het
Col18a1	C	T	10: 76,916,584 (GRCm39)	G364R	unknown	Het
Ddhd1	C	T	14: 45,895,117 (GRCm39)	G118R	possibly damaging	Het
Fgfr4	C	T	13: 55,304,293 (GRCm39)	T111M	probably damaging	Het
Fndc8	A	T	11: 82,788,739 (GRCm39)	T190S	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Glra3	T	A	8: 56,542,079 (GRCm39)	I274N	probably damaging	Het
Gpsm2	G	A	3: 108,590,090 (GRCm39)	R499*	probably null	Het
Gzme	T	A	14: 56,355,796 (GRCm39)	D172V	probably damaging	Het
Ift88	T	A	14: 57,717,385 (GRCm39)	D536E	probably benign	Het
Itih3	T	C	14: 30,643,335 (GRCm39)	T151A	probably benign	Het
Kctd7	T	C	5: 130,177,033 (GRCm39)	Y95H	probably damaging	Het
Lipe	A	T	7: 25,097,227 (GRCm39)	C239S	probably benign	Het
Lpcat3	T	C	6: 124,640,283 (GRCm39)	S38P	probably benign	Het
Mical2	C	T	7: 111,946,082 (GRCm39)	R1015C	probably damaging	Het
Midn	C	T	10: 79,992,210 (GRCm39)	R421*	probably null	Het
Mmp17	A	T	5: 129,671,686 (GRCm39)	K79*	probably null	Het
Or8b39	A	G	9: 37,997,020 (GRCm39)	H296R	probably benign	Het
Pla2r1	A	G	2: 60,282,744 (GRCm39)		probably null	Het
Ppp1r3a	A	G	6: 14,755,010 (GRCm39)	V79A	probably damaging	Het
Prkd3	G	T	17: 79,264,719 (GRCm39)	P633H	probably damaging	Het
Prss40	T	A	1: 34,591,794 (GRCm39)	S294C	probably damaging	Het
Raph1	T	A	1: 60,565,154 (GRCm39)	Q111L	probably benign	Het
Rufy3	A	T	5: 88,797,725 (GRCm39)	N634I	possibly damaging	Het
Sel1l3	A	C	5: 53,265,486 (GRCm39)	V1102G	probably benign	Het
Sh2b1	AGCTCAGCC	AGCTCAGCCCCGGGGACCCGCTCAGCC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	GG	GGCACCAGCTCAGCCCCGCG	7: 126,066,762 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGACCAGCTCAGCCACG	GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG	7: 126,066,744 (GRCm39)		probably benign	Het
Slc25a23	C	A	17: 57,360,930 (GRCm39)	G165C	probably damaging	Het
Spata31e1	T	A	13: 49,940,175 (GRCm39)	T512S	possibly damaging	Het
Sytl2	T	A	7: 90,041,658 (GRCm39)	D585E	probably benign	Het
Ttc14	A	G	3: 33,858,856 (GRCm39)	T372A	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r82	T	A	10: 79,214,768 (GRCm39)	Y250*	probably null	Het
Vmn2r92	T	A	17: 18,389,137 (GRCm39)	S484T	probably benign	Het

Other mutations in Or8k16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Or8k16	APN	2	85,520,007 (GRCm39)	missense	probably benign	0.01
IGL02192:Or8k16	APN	2	85,520,472 (GRCm39)	missense	possibly damaging	0.80
IGL02560:Or8k16	APN	2	85,519,863 (GRCm39)	missense	possibly damaging	0.79
IGL02726:Or8k16	APN	2	85,520,554 (GRCm39)	missense	possibly damaging	0.94
IGL02756:Or8k16	APN	2	85,520,402 (GRCm39)	missense	probably damaging	0.99
R0463:Or8k16	UTSW	2	85,520,183 (GRCm39)	missense	possibly damaging	0.94
R0961:Or8k16	UTSW	2	85,519,790 (GRCm39)	missense	probably benign	0.00
R0964:Or8k16	UTSW	2	85,520,709 (GRCm39)	missense	probably benign
R1259:Or8k16	UTSW	2	85,519,875 (GRCm39)	missense	probably damaging	0.98
R1756:Or8k16	UTSW	2	85,520,427 (GRCm39)	missense	probably damaging	1.00
R1871:Or8k16	UTSW	2	85,520,655 (GRCm39)	missense	probably damaging	1.00
R1882:Or8k16	UTSW	2	85,519,950 (GRCm39)	missense	probably damaging	1.00
R6573:Or8k16	UTSW	2	85,520,343 (GRCm39)	missense	probably damaging	0.99
R6640:Or8k16	UTSW	2	85,520,279 (GRCm39)	missense	probably damaging	1.00
R6746:Or8k16	UTSW	2	85,519,952 (GRCm39)	missense	probably damaging	1.00
R7045:Or8k16	UTSW	2	85,520,255 (GRCm39)	missense	possibly damaging	0.49
R7347:Or8k16	UTSW	2	85,520,181 (GRCm39)	missense	probably damaging	0.99
R7875:Or8k16	UTSW	2	85,519,838 (GRCm39)	missense	probably benign	0.14
R8030:Or8k16	UTSW	2	85,520,063 (GRCm39)	missense	probably damaging	1.00
R9161:Or8k16	UTSW	2	85,520,231 (GRCm39)	missense	probably benign	0.01
R9193:Or8k16	UTSW	2	85,520,644 (GRCm39)	nonsense	probably null
R9460:Or8k16	UTSW	2	85,520,359 (GRCm39)	missense	probably benign	0.02
R9467:Or8k16	UTSW	2	85,520,626 (GRCm39)	missense
R9685:Or8k16	UTSW	2	85,519,866 (GRCm39)	missense	probably damaging	1.00
Z1177:Or8k16	UTSW	2	85,520,024 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ATCTCTACAGCACCTTCCAGG -3'
(R):5'- GGGTTAATCATGGGGATCACTAAAG -3'

Sequencing Primer
(F):5'- CAGGCTCTGCTATTCACCAG -3'
(R):5'- TCTCTAAGGAGTCAGTAGATTTTGG -3'

Posted On

2022-04-18