Mutagenetix > Incidental Mutation

Incidental Mutation 'R8809:Or5k16'

672309

Institutional Source

Beutler Lab

Gene Symbol

Or5k16

Ensembl Gene

ENSMUSG00000090629

Gene Name

olfactory receptor family 5 subfamily K member 16

Synonyms

Olfr1563-ps1, Olfr180, MOR184-11P, MOR184-11P, GA_x54KRFPKG5P-55134972-55134019, MOR184-9

MMRRC Submission

068645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R8809 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58736049-58738849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58736248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 252 (Y252F)

Ref Sequence

ENSEMBL: ENSMUSP00000128358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171656] [ENSMUST00000205883] [ENSMUST00000206168]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000171656
AA Change: Y252F

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

SMART Domains

Protein: ENSMUSP00000128358
Gene: ENSMUSG00000090629
AA Change: Y252F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	1.4e-51	PFAM
Pfam:7tm_1	41	313	1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205883

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206168
AA Change: Y252F

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.2775

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	C	T	10: 89,550,841 (GRCm39)	V318I	probably benign	Het
Adam29	A	G	8: 56,325,659 (GRCm39)	I265T	probably benign	Het
Ankdd1a	A	T	9: 65,415,422 (GRCm39)		probably benign	Het
Arcn1	T	C	9: 44,655,259 (GRCm39)	T501A	possibly damaging	Het
B3gntl1	A	T	11: 121,521,690 (GRCm39)	F166I	possibly damaging	Het
Brap	T	C	5: 121,822,524 (GRCm39)	S467P	possibly damaging	Het
Cenpb	A	G	2: 131,020,322 (GRCm39)	V492A	unknown	Het
Ces1b	C	A	8: 93,786,948 (GRCm39)	G477V	probably damaging	Het
Ces1b	C	T	8: 93,786,949 (GRCm39)	G477R	probably damaging	Het
Cfap65	T	C	1: 74,942,382 (GRCm39)	K1724R	probably benign	Het
Chrd	A	T	16: 20,553,270 (GRCm39)	Q182L	probably benign	Het
Chrnb2	T	C	3: 89,664,457 (GRCm39)	T486A	probably benign	Het
Col25a1	A	T	3: 130,354,466 (GRCm39)		probably null	Het
Col4a1	A	G	8: 11,295,916 (GRCm39)	Y101H	unknown	Het
Crybg1	T	C	10: 43,879,428 (GRCm39)	T587A	probably damaging	Het
Ctnnal1	T	A	4: 56,835,374 (GRCm39)	N301I	possibly damaging	Het
Cyp2f2	A	T	7: 26,831,995 (GRCm39)	N417Y	probably damaging	Het
Dnah6	T	A	6: 73,009,546 (GRCm39)	E3800D	possibly damaging	Het
Dync2i1	A	G	12: 116,193,234 (GRCm39)	S573P	probably damaging	Het
Ehmt2	C	A	17: 35,127,489 (GRCm39)	T906K	probably damaging	Het
Fbxo15	A	G	18: 84,978,200 (GRCm39)	H183R	possibly damaging	Het
Fgl1	T	A	8: 41,650,368 (GRCm39)	K194*	probably null	Het
Fxr1	G	A	3: 34,108,430 (GRCm39)	V314I	possibly damaging	Het
Hrnr	A	G	3: 93,239,443 (GRCm39)	Q3227R	unknown	Het
Ier5	G	A	1: 154,974,716 (GRCm39)	A154V	probably benign	Het
Igkc	T	G	6: 70,703,502 (GRCm39)	L28V		Het
Kcnh1	G	A	1: 191,903,722 (GRCm39)	G54D	probably damaging	Het
Kcnn1	C	T	8: 71,305,297 (GRCm39)		probably null	Het
Kifbp	C	T	10: 62,395,491 (GRCm39)	D384N	possibly damaging	Het
Klra2	T	A	6: 131,197,198 (GRCm39)	N234I	possibly damaging	Het
Krtap4-9	T	C	11: 99,676,454 (GRCm39)	I125T	unknown	Het
Lrig2	T	C	3: 104,368,993 (GRCm39)	T897A	probably benign	Het
Lyve1	G	T	7: 110,452,999 (GRCm39)	T199K	probably damaging	Het
Myorg	T	C	4: 41,498,812 (GRCm39)	T273A	probably benign	Het
Napa	A	G	7: 15,846,551 (GRCm39)	D113G	possibly damaging	Het
Neurog1	GGTG	GGTGTG	13: 56,399,098 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,437,964 (GRCm39)	H91Q	probably damaging	Het
Or4c11c	T	C	2: 88,662,256 (GRCm39)	M265T	probably benign	Het
Or4n4	A	G	14: 50,519,236 (GRCm39)	I158T	probably benign	Het
Or52e3	A	T	7: 102,869,446 (GRCm39)	N174Y	probably benign	Het
Or7g16	A	G	9: 18,726,919 (GRCm39)	S224P	probably damaging	Het
Pccb	A	T	9: 100,867,220 (GRCm39)	Y455*	probably null	Het
Pdk2	A	T	11: 94,923,339 (GRCm39)	I95N	probably damaging	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pkd1l2	A	G	8: 117,726,660 (GRCm39)	L2282P	probably damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Prdm1	A	T	10: 44,315,749 (GRCm39)	S796T	probably benign	Het
Rb1	A	G	14: 73,503,000 (GRCm39)	F424L	probably damaging	Het
Retreg3	A	G	11: 100,992,852 (GRCm39)	L190P	probably damaging	Het
Rffl	A	G	11: 82,700,864 (GRCm39)	Y321H	probably damaging	Het
Rlbp1	A	G	7: 79,025,704 (GRCm39)	Y246H	probably damaging	Het
Rock2	T	A	12: 17,015,655 (GRCm39)		probably benign	Het
Slc17a3	C	A	13: 24,039,575 (GRCm39)	C244*	probably null	Het
Snapc1	T	C	12: 74,021,812 (GRCm39)	S304P	probably benign	Het
Sp9	T	C	2: 73,104,019 (GRCm39)	L191P	probably damaging	Het
Spag17	A	T	3: 99,889,738 (GRCm39)	E202D	probably benign	Het
Ss18	A	G	18: 14,760,344 (GRCm39)	*419R	probably null	Het
Tacc2	A	G	7: 130,276,421 (GRCm39)	E1824G	possibly damaging	Het
Tacc3	T	A	5: 33,824,029 (GRCm39)		probably benign	Het
Tfap2a	A	T	13: 40,870,829 (GRCm39)	L353Q	probably damaging	Het
Ugt3a1	A	G	15: 9,367,345 (GRCm39)	I363V	possibly damaging	Het
Vmn1r158	A	G	7: 22,489,775 (GRCm39)	C145R	probably damaging	Het
Vmn1r23	A	T	6: 57,903,352 (GRCm39)	I142K	probably damaging	Het
Vmn2r15	A	T	5: 109,434,874 (GRCm39)	I610N	probably benign	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,759,506 (GRCm39)		probably benign	Het
Zbtb7c	T	C	18: 76,270,190 (GRCm39)	Y93H	probably damaging	Het
Zfp62	A	G	11: 49,107,238 (GRCm39)	N443S	probably damaging	Het

Other mutations in Or5k16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Or5k16	APN	16	58,736,213 (GRCm39)	missense	probably benign	0.01
IGL01759:Or5k16	APN	16	58,736,291 (GRCm39)	missense	probably damaging	0.99
IGL02499:Or5k16	APN	16	58,736,614 (GRCm39)	missense	probably damaging	1.00
IGL02890:Or5k16	APN	16	58,736,737 (GRCm39)	missense	probably benign	0.03
R1123:Or5k16	UTSW	16	58,736,697 (GRCm39)	nonsense	probably null
R1292:Or5k16	UTSW	16	58,736,134 (GRCm39)	missense	probably damaging	1.00
R2983:Or5k16	UTSW	16	58,736,930 (GRCm39)	missense	probably benign	0.00
R3894:Or5k16	UTSW	16	58,736,702 (GRCm39)	missense	probably benign	0.28
R4176:Or5k16	UTSW	16	58,736,947 (GRCm39)	missense	probably benign	0.01
R4666:Or5k16	UTSW	16	58,736,947 (GRCm39)	missense	probably benign	0.01
R5058:Or5k16	UTSW	16	58,736,435 (GRCm39)	missense	probably benign	0.00
R5375:Or5k16	UTSW	16	58,736,248 (GRCm39)	missense	possibly damaging	0.83
R5998:Or5k16	UTSW	16	58,736,993 (GRCm39)	missense	probably benign
R6225:Or5k16	UTSW	16	58,736,545 (GRCm39)	missense	probably benign	0.32
R6315:Or5k16	UTSW	16	58,736,609 (GRCm39)	missense	probably damaging	1.00
R6380:Or5k16	UTSW	16	58,736,627 (GRCm39)	missense	probably damaging	1.00
R6866:Or5k16	UTSW	16	58,736,351 (GRCm39)	missense	probably damaging	1.00
R7513:Or5k16	UTSW	16	58,736,295 (GRCm39)	missense	probably damaging	1.00
R7582:Or5k16	UTSW	16	58,736,410 (GRCm39)	missense	possibly damaging	0.48
R8679:Or5k16	UTSW	16	58,736,843 (GRCm39)	missense	probably benign	0.04
R8798:Or5k16	UTSW	16	58,736,307 (GRCm39)	missense	probably benign
R9052:Or5k16	UTSW	16	58,736,561 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTGAAATTAGCGTGCCATAGAAG -3'
(R):5'- TCCTGTACAGACCCATTTATCAATG -3'

Sequencing Primer
(F):5'- CGTGCCATAGAAGCTGAAGC -3'
(R):5'- CACCATTACCACTGTCTTG -3'

Posted On

2021-04-30