Mutagenetix > Incidental Mutation

Incidental Mutation 'R8798:Or5k16'

671408

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

068724-MU

Accession Numbers

Essential gene?

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

Stock #

R8798 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58736049-58738849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58736307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 232 (D232E)

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 benign
Transcript: ENSMUST00000171656
AA Change: D232E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128358
Gene: ENSMUSG00000090629
AA Change: D232E

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

probably benign
Transcript: ENSMUST00000206168
AA Change: D232E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	G	A	8: 79,937,380 (GRCm39)	R176*	probably null	Het
4921539E11Rik	A	C	4: 103,123,574 (GRCm39)		probably benign	Het
Abcc2	A	G	19: 43,797,105 (GRCm39)	N492S	probably benign	Het
Acox1	T	C	11: 116,065,183 (GRCm39)	Y624C	probably damaging	Het
Aff4	T	C	11: 53,291,335 (GRCm39)		probably benign	Het
Ak9	T	A	10: 41,258,847 (GRCm39)	D781E		Het
Arfgef3	T	C	10: 18,522,799 (GRCm39)	D409G	probably damaging	Het
Arhgef18	T	A	8: 3,414,645 (GRCm39)	Y8N	probably benign	Het
Blnk	A	G	19: 40,950,795 (GRCm39)	Y119H	probably damaging	Het
Brsk2	T	C	7: 141,541,601 (GRCm39)	L310P	probably damaging	Het
Cgas	G	A	9: 78,350,348 (GRCm39)	R5C	probably benign	Het
Cit	T	A	5: 116,107,102 (GRCm39)	L1078Q	probably damaging	Het
Cpn1	A	T	19: 43,974,675 (GRCm39)	V18D	possibly damaging	Het
Csmd3	A	T	15: 47,595,382 (GRCm39)	Y1115N		Het
Dnah9	A	C	11: 65,796,057 (GRCm39)	V3589G	probably damaging	Het
Dpp9	T	C	17: 56,506,037 (GRCm39)	Y454C	probably damaging	Het
Eif3i	A	G	4: 129,490,717 (GRCm39)	V67A	probably benign	Het
Eif6	T	C	2: 155,664,886 (GRCm39)	N200S	probably damaging	Het
Fbxo10	T	C	4: 45,051,605 (GRCm39)	H502R	possibly damaging	Het
Fcer1a	A	G	1: 173,053,047 (GRCm39)	Y50H	probably benign	Het
Filip1	G	A	9: 79,727,372 (GRCm39)	H416Y	possibly damaging	Het
Frmpd1	A	T	4: 45,285,424 (GRCm39)	N1415I	possibly damaging	Het
Gdpgp1	C	T	7: 79,888,725 (GRCm39)	P252L	probably damaging	Het
Gsap	T	C	5: 21,476,248 (GRCm39)		probably null	Het
Hgs	T	C	11: 120,370,938 (GRCm39)	V598A	probably benign	Het
Irf2	G	T	8: 47,260,349 (GRCm39)	V94L	probably benign	Het
Kalrn	G	T	16: 33,803,225 (GRCm39)	H2675Q	possibly damaging	Het
Klhl33	C	A	14: 51,130,565 (GRCm39)	A50S	possibly damaging	Het
Klk1b11	T	C	7: 43,645,372 (GRCm39)	I15T	probably benign	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lrrn3	A	G	12: 41,503,174 (GRCm39)	M381T	possibly damaging	Het
Ltbr	A	G	6: 125,284,258 (GRCm39)	Y395H	probably benign	Het
Ltf	A	G	9: 110,852,828 (GRCm39)		probably benign	Het
Ly75	A	G	2: 60,154,270 (GRCm39)	F1059S	probably benign	Het
Lypd6	T	A	2: 50,078,774 (GRCm39)	I90N	possibly damaging	Het
Map1a	G	A	2: 121,132,768 (GRCm39)	V1195M	probably benign	Het
Mroh2b	A	T	15: 4,978,191 (GRCm39)	I1320F	probably damaging	Het
Mug2	A	G	6: 122,058,569 (GRCm39)	T1324A	probably damaging	Het
Mylk	G	A	16: 34,719,772 (GRCm39)	V562M	possibly damaging	Het
Myo15b	G	A	11: 115,754,232 (GRCm39)	G911R		Het
Neo1	A	G	9: 58,820,449 (GRCm39)	Y825H	probably damaging	Het
Nfat5	T	G	8: 108,074,321 (GRCm39)	V343G	probably damaging	Het
Nlrp2	A	T	7: 5,330,887 (GRCm39)	I503K	possibly damaging	Het
Or10d5	G	A	9: 39,862,013 (GRCm39)	T18I	probably benign	Het
Or13d1	C	A	4: 52,970,790 (GRCm39)	H56Q	possibly damaging	Het
Or8d2	G	A	9: 38,760,213 (GRCm39)	E268K	probably benign	Het
Pdcl2	T	C	5: 76,472,947 (GRCm39)	D7G	probably damaging	Het
Phyh	C	T	2: 4,923,893 (GRCm39)	R5C	probably damaging	Het
Prr11	A	C	11: 86,996,881 (GRCm39)	S28A	unknown	Het
Psmd13	T	A	7: 140,477,663 (GRCm39)	L190*	probably null	Het
Ptx4	A	G	17: 25,343,716 (GRCm39)	D322G	probably damaging	Het
Rnf40	T	C	7: 127,188,954 (GRCm39)	L109P	probably damaging	Het
Rrp1	T	C	10: 78,245,024 (GRCm39)	T102A	probably damaging	Het
Sema4a	T	G	3: 88,344,004 (GRCm39)	D749A	possibly damaging	Het
Serpina3f	A	T	12: 104,183,702 (GRCm39)	D188V	probably benign	Het
Smarca5	C	A	8: 81,443,137 (GRCm39)	A570S	probably damaging	Het
Spocd1	G	C	4: 129,823,997 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,535,212 (GRCm39)	G3823D	probably benign	Het
Suco	A	G	1: 161,648,004 (GRCm39)	L1094S	probably damaging	Het
Tcf7	T	C	11: 52,151,421 (GRCm39)	D79G	probably damaging	Het
Tdrd12	A	G	7: 35,228,605 (GRCm39)	M39T	probably damaging	Het
Thnsl1	A	G	2: 21,217,209 (GRCm39)	N321S	probably benign	Het
Tmem132c	T	A	5: 127,437,217 (GRCm39)	Y235*	probably null	Het
Tnfaip6	T	C	2: 51,933,824 (GRCm39)	F60L	probably benign	Het
Tnpo3	T	C	6: 29,572,620 (GRCm39)	I411V	probably benign	Het
Trio	A	C	15: 27,851,923 (GRCm39)	V856G	possibly damaging	Het
Trpc2	C	G	7: 101,733,767 (GRCm39)	R239G	probably benign	Het
Ttn	C	T	2: 76,656,476 (GRCm39)	V12502I	unknown	Het
Usf3	A	G	16: 44,040,536 (GRCm39)	D1672G	probably damaging	Het
Usp24	A	G	4: 106,236,436 (GRCm39)	N1011S	probably benign	Het
Vac14	A	G	8: 111,446,519 (GRCm39)	E756G	probably benign	Het
Vmn2r41	A	G	7: 8,164,522 (GRCm39)	L10P	probably damaging	Het
Xrcc5	T	C	1: 72,353,337 (GRCm39)	M115T	probably damaging	Het
Zfp1006	G	A	8: 129,945,779 (GRCm39)	H349Y	probably damaging	Het
Zfp827	G	A	8: 79,916,463 (GRCm39)		probably benign	Het
Zmym1	A	T	4: 126,943,664 (GRCm39)	N241K	possibly 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
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'- CGTGCCATAGAAGCTGAAGC -3'
(R):5'- TCATGTAGGGTGTCTCTTAAGGTTAAC -3'

Sequencing Primer
(F):5'- AACAGCATTTACTACCTCCTTATTTC -3'
(R):5'- GGTGTCTCTTAAGGTTAACTTTCTG -3'

Posted On

2021-04-30