Mutagenetix > Incidental Mutation

Incidental Mutation 'R4841:Or4k51'

371795

Institutional Source

Beutler Lab

Gene Symbol

Or4k51

Ensembl Gene

ENSMUSG00000057149

Gene Name

olfactory receptor family 4 subfamily K member 51

Synonyms

Olfr1301, MOR248-5, GA_x6K02T2Q125-72805651-72806589

MMRRC Submission

042454-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R4841 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111584596-111585534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 111584679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 28 (F28L)

Ref Sequence

ENSEMBL: ENSMUSP00000146530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080094] [ENSMUST00000207590]

AlphaFold

Q8VGE7

Predicted Effect

probably benign
Transcript: ENSMUST00000080094
AA Change: F28L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000078993
Gene: ENSMUSG00000057149
AA Change: F28L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	4.1e-53	PFAM
Pfam:7tm_1	41	287	2.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207590
AA Change: F28L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 15,164,001 (GRCm39)	I43L	possibly damaging	Het
4933427I04Rik	T	A	4: 123,754,170 (GRCm39)	M28K	probably benign	Het
A2m	A	T	6: 121,623,803 (GRCm39)	I390F	probably benign	Het
Abcc8	T	C	7: 45,800,252 (GRCm39)	K510R	probably damaging	Het
Adamts6	A	G	13: 104,449,295 (GRCm39)	D39G	probably benign	Het
Adgrl3	T	C	5: 81,942,118 (GRCm39)	S1326P	possibly damaging	Het
Adgrv1	A	G	13: 81,651,120 (GRCm39)		probably null	Het
Ap3b2	G	A	7: 81,127,678 (GRCm39)	A166V	probably damaging	Het
Bbox1	T	A	2: 110,134,084 (GRCm39)		probably null	Het
Bckdk	A	G	7: 127,504,633 (GRCm39)		probably null	Het
Cand1	C	A	10: 119,049,451 (GRCm39)		probably null	Het
Capn5	T	C	7: 97,780,879 (GRCm39)		probably null	Het
Ccdc121rt2	A	T	5: 112,598,106 (GRCm39)	K218*	probably null	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Ces1g	C	T	8: 94,060,323 (GRCm39)	E99K	probably benign	Het
Cnmd	A	G	14: 79,887,762 (GRCm39)	I153T	possibly damaging	Het
Cntrob	C	G	11: 69,206,220 (GRCm39)	L315F	possibly damaging	Het
Cspg4b	G	A	13: 113,502,724 (GRCm39)	G143D	probably benign	Het
Ctdp1	A	G	18: 80,451,941 (GRCm39)	S145P	unknown	Het
Dmrt2	G	A	19: 25,655,031 (GRCm39)	G210D	probably damaging	Het
Dnajc16	A	G	4: 141,501,936 (GRCm39)	F298S	probably damaging	Het
Dock5	T	C	14: 68,055,012 (GRCm39)	D618G	probably damaging	Het
Drc3	G	A	11: 60,261,361 (GRCm39)	A171T	probably benign	Het
Dspp	A	T	5: 104,325,052 (GRCm39)	S472C	unknown	Het
Dspp	G	T	5: 104,325,053 (GRCm39)	S472I	unknown	Het
Ecel1	A	T	1: 87,081,023 (GRCm39)	N322K	probably damaging	Het
Eftud2	A	G	11: 102,745,640 (GRCm39)	F362L	probably damaging	Het
Egfr	C	T	11: 16,861,607 (GRCm39)	H1129Y	probably benign	Het
Erich3	T	A	3: 154,410,480 (GRCm39)	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,779,580 (GRCm39)	L261S	probably damaging	Het
Fancd2	T	C	6: 113,539,391 (GRCm39)	S239P	probably damaging	Het
Fbp2	C	A	13: 63,002,727 (GRCm39)	Q108H	probably benign	Het
Fcgbpl1	T	A	7: 27,850,147 (GRCm39)	C1198S	probably damaging	Het
Gask1b	G	A	3: 79,843,912 (GRCm39)	R377H	probably damaging	Het
Gipr	C	T	7: 18,896,601 (GRCm39)	R165H	probably damaging	Het
Gje1	C	T	10: 14,593,082 (GRCm39)	G45R	probably null	Het
Gpat2	C	G	2: 127,275,887 (GRCm39)	T555S	probably benign	Het
Grik3	C	A	4: 125,584,969 (GRCm39)	N612K	probably damaging	Het
Iqcb1	A	G	16: 36,655,952 (GRCm39)	E113G	probably benign	Het
Kat8	A	G	7: 127,524,366 (GRCm39)	I415V	probably benign	Het
Kcnk10	A	T	12: 98,401,175 (GRCm39)	M486K	probably benign	Het
Kif21b	C	A	1: 136,072,958 (GRCm39)	H119N	probably damaging	Het
Leng9	T	C	7: 4,152,385 (GRCm39)	D97G	probably damaging	Het
Lrguk	T	C	6: 34,069,802 (GRCm39)	V559A	probably damaging	Het
Lrp1	G	T	10: 127,419,805 (GRCm39)	R935S	probably damaging	Het
Lrrcc1	C	A	3: 14,627,571 (GRCm39)	D503E	probably benign	Het
Mybph	A	T	1: 134,126,233 (GRCm39)	E349V	probably damaging	Het
Myzap	A	G	9: 71,456,037 (GRCm39)	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,292,534 (GRCm39)	L1062P	probably damaging	Het
Nepro	G	A	16: 44,555,160 (GRCm39)	S412N	probably null	Het
Nudt5	T	C	2: 5,869,239 (GRCm39)	V155A	probably benign	Het
Or13a25	A	T	7: 140,247,502 (GRCm39)	I94F	probably damaging	Het
Or5ae2	G	T	7: 84,506,328 (GRCm39)	L250F	probably damaging	Het
Or6ae1	A	G	7: 139,742,602 (GRCm39)	L87P	possibly damaging	Het
Osbpl3	T	A	6: 50,286,356 (GRCm39)	N623I	probably damaging	Het
Pde4dip	T	A	3: 97,700,844 (GRCm39)	H220L	probably damaging	Het
Pde9a	T	A	17: 31,662,135 (GRCm39)		probably null	Het
Pex16	T	G	2: 92,209,544 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,870,064 (GRCm39)	T15A	probably benign	Het
Polq	G	T	16: 36,869,145 (GRCm39)		probably null	Het
Ppfia2	C	T	10: 106,690,818 (GRCm39)	T553I	probably benign	Het
Rreb1	G	A	13: 38,100,502 (GRCm39)	C211Y	probably benign	Het
Rundc3b	A	G	5: 8,578,742 (GRCm39)	L222P	probably damaging	Het
Ryr3	T	C	2: 112,478,718 (GRCm39)	N4405S	probably damaging	Het
Sardh	A	G	2: 27,081,967 (GRCm39)	V853A	probably benign	Het
Scfd1	T	C	12: 51,436,109 (GRCm39)	V86A	probably damaging	Het
Scube3	G	A	17: 28,383,097 (GRCm39)	C425Y	probably damaging	Het
Sfta2	T	C	17: 35,960,773 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,031,049 (GRCm39)	Y738H	probably damaging	Het
Shc2	T	C	10: 79,458,295 (GRCm39)	R463G	probably damaging	Het
Slc4a10	T	C	2: 62,087,939 (GRCm39)	V414A	possibly damaging	Het
Slc9a3	G	T	13: 74,313,956 (GRCm39)	D755Y	probably damaging	Het
Snrpb2	C	A	2: 142,910,237 (GRCm39)	F98L	possibly damaging	Het
Socs7	T	A	11: 97,267,829 (GRCm39)	I320N	possibly damaging	Het
Speer2	A	T	16: 69,654,988 (GRCm39)	M159K	probably benign	Het
Sppl2c	A	C	11: 104,078,478 (GRCm39)	H426P	probably benign	Het
Stxbp5	C	A	10: 9,638,635 (GRCm39)	V1055L	probably benign	Het
Synpo	A	T	18: 60,736,684 (GRCm39)	S421T	probably damaging	Het
Taf6l	A	G	19: 8,759,770 (GRCm39)	V135A	possibly damaging	Het
Tafa5	C	T	15: 87,509,637 (GRCm39)		probably benign	Het
Trim58	G	A	11: 58,542,150 (GRCm39)	G370E	probably damaging	Het
Tshz2	T	A	2: 169,728,167 (GRCm39)	I452N	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Vit	T	C	17: 78,909,308 (GRCm39)	S252P	probably benign	Het
Vmn1r173	A	T	7: 23,402,361 (GRCm39)	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,529,336 (GRCm39)	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,582,246 (GRCm39)	N545S	probably damaging	Het
Zbtb44	T	G	9: 30,964,701 (GRCm39)	V37G	probably damaging	Het
Zfp865	A	G	7: 5,034,640 (GRCm39)	Y875C	probably damaging	Het

Other mutations in Or4k51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Or4k51	APN	2	111,584,771 (GRCm39)	missense	probably damaging	1.00
IGL01396:Or4k51	APN	2	111,584,848 (GRCm39)	missense	probably benign	0.01
IGL01396:Or4k51	APN	2	111,584,948 (GRCm39)	missense	probably damaging	1.00
IGL01538:Or4k51	APN	2	111,585,350 (GRCm39)	missense	probably damaging	0.98
IGL01795:Or4k51	APN	2	111,584,731 (GRCm39)	missense	probably benign	0.00
IGL02007:Or4k51	APN	2	111,584,824 (GRCm39)	missense	probably damaging	0.99
IGL02738:Or4k51	APN	2	111,584,699 (GRCm39)	missense	probably damaging	1.00
IGL03365:Or4k51	APN	2	111,584,772 (GRCm39)	missense	possibly damaging	0.95
R0014:Or4k51	UTSW	2	111,585,119 (GRCm39)	missense	probably damaging	1.00
R0115:Or4k51	UTSW	2	111,584,930 (GRCm39)	missense	probably damaging	1.00
R0481:Or4k51	UTSW	2	111,584,930 (GRCm39)	missense	probably damaging	1.00
R1441:Or4k51	UTSW	2	111,585,347 (GRCm39)	missense	probably damaging	1.00
R1583:Or4k51	UTSW	2	111,584,770 (GRCm39)	missense	probably damaging	0.98
R2091:Or4k51	UTSW	2	111,584,731 (GRCm39)	missense	probably benign	0.00
R2301:Or4k51	UTSW	2	111,584,621 (GRCm39)	missense	probably benign	0.01
R2363:Or4k51	UTSW	2	111,585,139 (GRCm39)	missense	probably damaging	0.97
R2511:Or4k51	UTSW	2	111,584,661 (GRCm39)	missense	probably benign	0.00
R3686:Or4k51	UTSW	2	111,584,914 (GRCm39)	missense	probably benign	0.00
R4915:Or4k51	UTSW	2	111,584,725 (GRCm39)	missense	probably benign	0.00
R4961:Or4k51	UTSW	2	111,584,750 (GRCm39)	missense	probably damaging	1.00
R5123:Or4k51	UTSW	2	111,584,897 (GRCm39)	missense	probably damaging	1.00
R5417:Or4k51	UTSW	2	111,585,265 (GRCm39)	missense	possibly damaging	0.50
R5654:Or4k51	UTSW	2	111,585,326 (GRCm39)	missense	probably damaging	1.00
R5753:Or4k51	UTSW	2	111,585,146 (GRCm39)	missense	possibly damaging	0.51
R6361:Or4k51	UTSW	2	111,584,940 (GRCm39)	missense	probably damaging	1.00
R6525:Or4k51	UTSW	2	111,585,329 (GRCm39)	missense	probably benign	0.09
R6682:Or4k51	UTSW	2	111,584,980 (GRCm39)	missense	probably damaging	1.00
R7099:Or4k51	UTSW	2	111,585,421 (GRCm39)	missense	probably benign	0.00
R7946:Or4k51	UTSW	2	111,585,163 (GRCm39)	missense	probably benign	0.00
R8925:Or4k51	UTSW	2	111,585,107 (GRCm39)	missense	probably benign	0.02
R8927:Or4k51	UTSW	2	111,585,107 (GRCm39)	missense	probably benign	0.02
R9272:Or4k51	UTSW	2	111,584,965 (GRCm39)	missense	probably damaging	0.99
R9451:Or4k51	UTSW	2	111,585,218 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TCTGAAAGGTGACAGTGACTCC -3'
(R):5'- CTGCAAAGGAAATGATCTTTGGTTC -3'

Sequencing Primer
(F):5'- TCCTATCTCAGGTGTAGATGTTAAC -3'
(R):5'- TGGTTCTTTGAGAAAATCTGTGATC -3'

Posted On

2016-03-01