Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02499:Or5k16'

295945

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: 0.093) question?

Stock #

IGL02499

Quality Score

Status

Chromosome

Chromosomal Location

58736049-58738849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58736614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 130 (L130P)

Ref Sequence

ENSEMBL: ENSMUSP00000145601 (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: L130P

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

SMART Domains

Protein: ENSMUSP00000128358
Gene: ENSMUSG00000090629
AA Change: L130P

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 damaging
Transcript: ENSMUST00000205883
AA Change: L130P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206168
AA Change: L130P

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abcb1a	A	G	5: 8,776,807 (GRCm39)	N835S	possibly damaging	Het
Abr	A	T	11: 76,399,916 (GRCm39)	F27Y	probably benign	Het
Adam5	C	T	8: 25,271,581 (GRCm39)		probably null	Het
Alas1	A	T	9: 106,118,520 (GRCm39)	Y201N	probably damaging	Het
Aldoart1	T	A	4: 72,770,476 (GRCm39)	R111W	possibly damaging	Het
Arhgef25	A	G	10: 127,021,460 (GRCm39)	Y253H	probably damaging	Het
Arhgef28	G	T	13: 98,090,291 (GRCm39)	A1076E	possibly damaging	Het
Baz2b	C	T	2: 59,731,840 (GRCm39)	R2066K	possibly damaging	Het
Bdh1	G	T	16: 31,256,866 (GRCm39)	R5L	possibly damaging	Het
Brap	A	G	5: 121,817,934 (GRCm39)	Y358C	probably damaging	Het
Cad	T	C	5: 31,226,948 (GRCm39)	V1235A	probably damaging	Het
Cadps	G	T	14: 12,822,725 (GRCm38)	S5*	probably null	Het
Cd200r2	A	G	16: 44,734,948 (GRCm39)	T220A	possibly damaging	Het
Cd209e	T	A	8: 3,904,238 (GRCm39)	M6L	probably benign	Het
Cdh23	G	T	10: 60,220,958 (GRCm39)	T1265K	probably damaging	Het
Clec16a	T	C	16: 10,512,540 (GRCm39)	S828P	probably benign	Het
Dao	A	G	5: 114,152,002 (GRCm39)	K107E	possibly damaging	Het
Dnah6	T	A	6: 72,998,210 (GRCm39)	M4071L	probably benign	Het
Dvl1	T	C	4: 155,939,237 (GRCm39)	I250T	probably benign	Het
Dzip3	A	C	16: 48,754,213 (GRCm39)	L945V	probably damaging	Het
Gm128	A	G	3: 95,147,992 (GRCm39)	S101P	possibly damaging	Het
Gphn	T	C	12: 78,539,074 (GRCm39)	L240P	probably benign	Het
Hecw2	A	G	1: 53,965,647 (GRCm39)	I393T	probably benign	Het
Iigp1c	T	C	18: 60,378,710 (GRCm39)	S82P	probably damaging	Het
Kat14	A	G	2: 144,235,751 (GRCm39)	E161G	probably benign	Het
Kcne3	A	C	7: 99,833,610 (GRCm39)	I76L	probably benign	Het
Kcnk18	A	T	19: 59,223,614 (GRCm39)	Q253L	probably benign	Het
Kmt2a	T	C	9: 44,741,806 (GRCm39)		probably benign	Het
Lrrc73	A	G	17: 46,567,915 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,296,056 (GRCm39)	S2993P	possibly damaging	Het
Mto1	T	A	9: 78,368,794 (GRCm39)		probably benign	Het
Myo9a	T	A	9: 59,722,669 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,467,342 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,566,885 (GRCm39)	T587A	probably benign	Het
Nemf	T	A	12: 69,368,903 (GRCm39)	I771F	probably damaging	Het
Or10k2	T	A	8: 84,267,812 (GRCm39)	V13D	possibly damaging	Het
Or8c10	A	T	9: 38,278,977 (GRCm39)	Y45F	probably benign	Het
Papln	T	C	12: 83,827,445 (GRCm39)	V761A	probably benign	Het
Pask	A	T	1: 93,248,817 (GRCm39)	L861*	probably null	Het
Pcdh18	T	A	3: 49,707,896 (GRCm39)	R859S	probably benign	Het
Ppip5k1	C	T	2: 121,162,034 (GRCm39)		probably null	Het
Ptprs	A	G	17: 56,744,884 (GRCm39)	V284A	probably damaging	Het
Rasgrp4	A	T	7: 28,850,928 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,419,271 (GRCm39)	I614V	probably benign	Het
Sec23ip	T	C	7: 128,378,640 (GRCm39)	I818T	probably damaging	Het
Skint11	G	A	4: 114,051,801 (GRCm39)	A50T	probably benign	Het
Sqor	T	A	2: 122,650,007 (GRCm39)	M417K	possibly damaging	Het
Tbc1d24	T	C	17: 24,426,593 (GRCm39)		probably null	Het
Tbc1d8b	A	T	X: 138,613,173 (GRCm39)	D333V	probably damaging	Het
Tbx2	T	C	11: 85,731,739 (GRCm39)	S679P	possibly damaging	Het
Thbs2	A	G	17: 14,904,328 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,689,795 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,493,568 (GRCm39)	I126N	probably damaging	Het
Zbtb10	G	T	3: 9,316,800 (GRCm39)	G204V	probably damaging	Het
Zfp426	A	C	9: 20,384,414 (GRCm39)		probably benign	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
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

2015-04-16