Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00088:Or5k16'

843

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL00088

Quality Score

Status

Chromosome

Chromosomal Location

58736049-58738849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58736213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 264 (E264K)

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: E264K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000128358
Gene: ENSMUSG00000090629
AA Change: E264K

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: E264K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	A	G	18: 36,798,512 (GRCm39)		probably benign	Het
Anpep	A	G	7: 79,475,484 (GRCm39)	V879A	possibly damaging	Het
Asb13	T	G	13: 3,693,476 (GRCm39)	V78G	probably null	Het
Atad2b	A	G	12: 5,074,593 (GRCm39)	R1051G	probably damaging	Het
Bdp1	T	C	13: 100,235,018 (GRCm39)	Y192C	probably damaging	Het
C1ql2	G	T	1: 120,269,399 (GRCm39)	G185C	probably damaging	Het
Catsperg2	A	G	7: 29,404,829 (GRCm39)	S745P	possibly damaging	Het
Col19a1	A	T	1: 24,600,387 (GRCm39)	S52T	unknown	Het
Col4a2	G	T	8: 11,493,685 (GRCm39)	G1418V	probably damaging	Het
Crnkl1	C	T	2: 145,760,388 (GRCm39)	D677N	possibly damaging	Het
Cyp2j8	T	A	4: 96,392,079 (GRCm39)	N125I	probably benign	Het
Cyp2t4	A	T	7: 26,854,723 (GRCm39)	M68L	probably benign	Het
Dclk2	T	A	3: 86,706,397 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,308,988 (GRCm39)	D1921G	probably benign	Het
Dnah10	G	A	5: 124,905,667 (GRCm39)	G4104S	probably damaging	Het
Echdc2	T	C	4: 108,036,108 (GRCm39)	I273T	probably damaging	Het
Extl1	T	C	4: 134,085,330 (GRCm39)	K596E	probably damaging	Het
Fads3	A	T	19: 10,029,663 (GRCm39)	D108V	probably null	Het
Fam135b	A	G	15: 71,322,343 (GRCm39)	L1274P	probably damaging	Het
Fat1	T	A	8: 45,477,639 (GRCm39)	H2228Q	possibly damaging	Het
Gcc2	C	T	10: 58,128,502 (GRCm39)	H1341Y	probably damaging	Het
Gls2	A	G	10: 128,036,840 (GRCm39)		probably null	Het
Gpr137	A	C	19: 6,917,072 (GRCm39)	V139G	probably damaging	Het
Ikbke	A	G	1: 131,197,749 (GRCm39)		probably null	Het
Irak2	A	T	6: 113,655,636 (GRCm39)	N285Y	probably benign	Het
Kcnu1	G	A	8: 26,387,884 (GRCm39)	C566Y	probably benign	Het
Klhl29	G	A	12: 5,190,705 (GRCm39)	P97S	probably benign	Het
Lama4	T	C	10: 38,941,591 (GRCm39)		probably benign	Het
Lhx6	G	A	2: 35,981,728 (GRCm39)		probably benign	Het
Mdn1	T	C	4: 32,723,651 (GRCm39)	L2529P	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Naa15	T	A	3: 51,345,826 (GRCm39)	V19D	probably damaging	Het
Ncbp3	A	T	11: 72,964,355 (GRCm39)		probably benign	Het
Nckipsd	G	A	9: 108,692,168 (GRCm39)	V530I	probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Nnmt	A	T	9: 48,503,224 (GRCm39)		probably benign	Het
Nup58	T	A	14: 60,480,026 (GRCm39)	I207L	probably benign	Het
Or14j2	A	T	17: 37,885,808 (GRCm39)	C169S	probably damaging	Het
Or5ae1	T	A	7: 84,565,578 (GRCm39)	M197K	probably damaging	Het
Otud4	T	A	8: 80,399,510 (GRCm39)	N741K	probably damaging	Het
Pard6a	T	A	8: 106,429,833 (GRCm39)	C264S	probably benign	Het
Plch2	T	C	4: 155,091,099 (GRCm39)	N276S	probably damaging	Het
Pramel31	T	A	4: 144,089,100 (GRCm39)	H139Q	possibly damaging	Het
Pramel32	T	A	4: 88,547,307 (GRCm39)	K121N	probably benign	Het
Racgap1	T	C	15: 99,534,003 (GRCm39)		probably benign	Het
Rad51d	T	C	11: 82,780,572 (GRCm39)	D70G	probably damaging	Het
Recql4	C	T	15: 76,591,536 (GRCm39)	A484T	possibly damaging	Het
Reg3g	A	T	6: 78,443,762 (GRCm39)	S149T	probably benign	Het
Rpl13a	C	A	7: 44,776,495 (GRCm39)		probably null	Het
Scn10a	T	C	9: 119,501,292 (GRCm39)	Y164C	probably damaging	Het
Scn2a	A	G	2: 65,594,784 (GRCm39)	I1878V	probably benign	Het
Sgcg	T	A	14: 61,477,796 (GRCm39)	R98*	probably null	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tas2r140	A	T	6: 40,468,274 (GRCm39)	I35F	probably benign	Het
Tex19.2	A	G	11: 121,007,638 (GRCm39)	F270S	possibly damaging	Het
Traip	C	T	9: 107,847,749 (GRCm39)	R391W	probably benign	Het
Trim7	A	G	11: 48,736,398 (GRCm39)	N251D	probably damaging	Het
Trmt2a	T	A	16: 18,067,351 (GRCm39)	V8D	probably benign	Het
Tut7	T	C	13: 59,964,512 (GRCm39)	E221G	probably damaging	Het
Ubr3	A	C	2: 69,819,154 (GRCm39)	I9L	probably benign	Het
Usp42	A	G	5: 143,702,897 (GRCm39)	S575P	probably benign	Het
Vmn2r52	G	T	7: 9,903,023 (GRCm39)	H468Q	probably benign	Het
Vmn2r59	T	A	7: 41,661,488 (GRCm39)	T776S	possibly damaging	Het

Other mutations in Or5k16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8809:Or5k16	UTSW	16	58,736,248 (GRCm39)	missense	probably damaging	1.00
R9052:Or5k16	UTSW	16	58,736,561 (GRCm39)	missense	probably benign

Posted On

2011-07-12