Mutagenetix > Incidental Mutation

Incidental Mutation 'R5375:Or5k16'

429043

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

042951-MU

Accession Numbers

Essential gene?

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

Stock #

R5375 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58736049-58738849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58736248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 252 (Y252C)

Ref Sequence

ENSEMBL: ENSMUSP00000145601 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171656
AA Change: Y252C

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128358
Gene: ENSMUSG00000090629
AA Change: Y252C

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: Y252C

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	T	A	12: 4,260,870 (GRCm39)	N995K	probably damaging	Het
Aldh4a1	T	C	4: 139,361,233 (GRCm39)	M60T	probably benign	Het
Alpk2	A	T	18: 65,505,809 (GRCm39)	H70Q	probably damaging	Het
Babam2	T	A	5: 31,859,207 (GRCm39)	I5N	possibly damaging	Het
Blm	T	C	7: 80,162,977 (GRCm39)	T125A	probably benign	Het
Bloc1s1	T	C	10: 128,759,826 (GRCm39)		probably benign	Het
Calcr	G	T	6: 3,714,651 (GRCm39)	Q160K	probably benign	Het
Ccdc43	C	T	11: 102,581,058 (GRCm39)	A131T	probably damaging	Het
Cdh15	A	T	8: 123,591,839 (GRCm39)	N575Y	probably damaging	Het
Chd8	T	C	14: 52,441,611 (GRCm39)	D827G	probably damaging	Het
Col3a1	A	G	1: 45,387,059 (GRCm39)		probably null	Het
Creb5	A	T	6: 53,658,002 (GRCm39)	M255L	possibly damaging	Het
Cst8	A	G	2: 148,646,503 (GRCm39)	I78V	probably benign	Het
Cyld	A	G	8: 89,459,664 (GRCm39)	E440G	possibly damaging	Het
Cyp2b9	A	C	7: 25,887,167 (GRCm39)	D192A	probably damaging	Het
Dclre1b	C	T	3: 103,711,290 (GRCm39)	R207H	probably damaging	Het
Dnah6	A	T	6: 73,100,838 (GRCm39)	F1936L	probably damaging	Het
Dpp9	A	C	17: 56,496,424 (GRCm39)	Y761*	probably null	Het
Drc1	A	T	5: 30,513,745 (GRCm39)	M434L	probably benign	Het
Dtx3l	A	T	16: 35,753,397 (GRCm39)	I403N	probably damaging	Het
Ecpas	T	A	4: 58,809,401 (GRCm39)	K1658*	probably null	Het
Efcab9	A	G	11: 32,477,484 (GRCm39)	Y13H	probably damaging	Het
Efhb	T	A	17: 53,708,654 (GRCm39)	N672I	possibly damaging	Het
Eif5b	T	C	1: 38,084,835 (GRCm39)	V894A	possibly damaging	Het
Elovl3	T	C	19: 46,123,135 (GRCm39)	F237S	probably benign	Het
Emc1	T	A	4: 139,093,802 (GRCm39)	D637E	probably damaging	Het
Erbb2	C	A	11: 98,324,238 (GRCm39)	P742Q	probably damaging	Het
Fam234b	C	A	6: 135,210,355 (GRCm39)	L584M	probably damaging	Het
Fancd2	A	T	6: 113,545,673 (GRCm39)	D14V	possibly damaging	Het
Fat2	T	C	11: 55,153,646 (GRCm39)	H3522R	probably benign	Het
Fgfr2	T	C	7: 129,842,945 (GRCm39)	N147D	possibly damaging	Het
Gm26657	A	G	4: 56,741,180 (GRCm39)		probably benign	Het
Hcrtr1	C	T	4: 130,029,518 (GRCm39)	V188M	probably benign	Het
Herc1	T	C	9: 66,375,169 (GRCm39)	V3331A	probably damaging	Het
Hmcn2	T	C	2: 31,320,453 (GRCm39)	V3978A	possibly damaging	Het
Invs	G	A	4: 48,385,262 (GRCm39)	R202K	probably benign	Het
Lgr5	C	T	10: 115,314,469 (GRCm39)	S156N	probably benign	Het
Mras	T	G	9: 99,276,669 (GRCm39)	D67A	probably damaging	Het
Mrpl39	A	G	16: 84,520,790 (GRCm39)	L283P	probably damaging	Het
Ncoa6	A	T	2: 155,275,915 (GRCm39)	I110N	probably benign	Het
Neb	T	C	2: 52,102,596 (GRCm39)	D544G	possibly damaging	Het
Nlrc3	A	G	16: 3,782,617 (GRCm39)	I264T	possibly damaging	Het
Or10a2	T	A	7: 106,673,080 (GRCm39)	M15K	probably benign	Het
Or1j13	A	G	2: 36,369,309 (GRCm39)	Y278H	probably damaging	Het
Or7g18	A	G	9: 18,787,442 (GRCm39)	K273R	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phf11d	T	C	14: 59,590,120 (GRCm39)	D234G	probably null	Het
Polq	A	T	16: 36,903,146 (GRCm39)	D1980V	probably damaging	Het
Rasa1	A	T	13: 85,437,022 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec23a	A	G	12: 59,053,791 (GRCm39)	V69A	probably benign	Het
Sipa1	A	G	19: 5,709,640 (GRCm39)	I260T	probably damaging	Het
Smarcc1	T	A	9: 110,020,017 (GRCm39)	L628H	probably damaging	Het
Snx31	A	G	15: 36,525,730 (GRCm39)	V323A	probably damaging	Het
Sun2	A	G	15: 79,611,723 (GRCm39)	S565P	probably damaging	Het
Tmem74	C	T	15: 43,730,564 (GRCm39)	D160N	possibly damaging	Het
Tnik	T	C	3: 28,648,241 (GRCm39)	M431T	probably benign	Het
Trp53inp1	A	G	4: 11,165,305 (GRCm39)	T110A	probably benign	Het
Ttll9	G	T	2: 152,826,144 (GRCm39)	C118F	probably benign	Het
Vps4b	A	G	1: 106,719,422 (GRCm39)	L42P	probably benign	Het
Xirp2	A	T	2: 67,342,250 (GRCm39)	N1497I	probably damaging	Het
Xpo4	A	G	14: 57,875,764 (GRCm39)	V123A	probably damaging	Het
Zfhx4	A	T	3: 5,477,485 (GRCm39)	T3367S	probably damaging	Het
Zfp236	T	C	18: 82,615,813 (GRCm39)	E1782G	possibly damaging	Het
Zfp35	T	A	18: 24,135,973 (GRCm39)	C106S	possibly damaging	Het
Zfpm1	A	G	8: 123,062,812 (GRCm39)	T624A	probably benign	Het
Zmiz2	C	T	11: 6,347,519 (GRCm39)	Q276*	probably null	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
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
R8809:Or5k16	UTSW	16	58,736,248 (GRCm39)	missense	probably damaging	1.00
R9052:Or5k16	UTSW	16	58,736,561 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAAATTAGCGTGCCATAGAAGC -3'
(R):5'- TCTCCTGTACAGACCCATTTATCAATG -3'

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

Posted On

2016-09-06