Mutagenetix > Incidental Mutation

Incidental Mutation 'R6954:Or4k6'

541391

Institutional Source

Beutler Lab

Gene Symbol

Or4k6

Ensembl Gene

ENSMUSG00000048080

Gene Name

olfactory receptor family 4 subfamily K member 6

Synonyms

Olfr731, GA_x6K02T2PMLR-5936117-5935137, MOR246-5

MMRRC Submission

045066-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6954 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50475360-50476340 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 50475567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 258 (Y258*)

Ref Sequence

ENSEMBL: ENSMUSP00000150683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059565] [ENSMUST00000214152] [ENSMUST00000214388]

AlphaFold

F8VQB9

Predicted Effect

probably null
Transcript: ENSMUST00000059565
AA Change: Y258*

SMART Domains

Protein: ENSMUSP00000050705
Gene: ENSMUSG00000048080
AA Change: Y258*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	8.5e-51	PFAM
Pfam:7tm_1	41	287	5.5e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214152
AA Change: Y258*

Predicted Effect

probably null
Transcript: ENSMUST00000214388
AA Change: Y258*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	T	7: 126,429,809 (GRCm39)		probably null	Het
Alox5	A	C	6: 116,397,241 (GRCm39)	Y314*	probably null	Het
Ap4e1	T	C	2: 126,906,871 (GRCm39)	S1044P	probably benign	Het
Ash2l	A	G	8: 26,312,796 (GRCm39)	V391A	possibly damaging	Het
B4galnt4	A	G	7: 140,647,145 (GRCm39)	T326A	probably benign	Het
Ccm2	T	A	11: 6,544,239 (GRCm39)	I345N	probably damaging	Het
Cntnap3	G	A	13: 64,896,373 (GRCm39)	H1034Y	probably benign	Het
Cpsf1	A	G	15: 76,483,696 (GRCm39)	L849S	probably damaging	Het
Ctrb1	A	G	8: 112,413,296 (GRCm39)	S239P	probably damaging	Het
Dennd1b	T	A	1: 139,096,683 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 117,957,258 (GRCm39)	I2773T	probably damaging	Het
Eif2b2	T	A	12: 85,272,817 (GRCm39)	F267L	probably damaging	Het
Fcrl2	A	G	3: 87,170,983 (GRCm39)		probably benign	Het
Furin	G	T	7: 80,046,712 (GRCm39)	D181E	possibly damaging	Het
Gm29106	T	A	1: 118,128,317 (GRCm39)	C670S	probably damaging	Het
Gm6309	A	T	5: 146,105,300 (GRCm39)	D204E	possibly damaging	Het
Hsf2	T	A	10: 57,380,739 (GRCm39)	I191N	probably damaging	Het
Hspa12a	T	C	19: 58,788,124 (GRCm39)	D566G	probably benign	Het
Igf1	G	C	10: 87,700,722 (GRCm39)	V49L	probably damaging	Het
Igfbpl1	C	T	4: 45,826,663 (GRCm39)	C44Y	probably damaging	Het
Letm1	G	A	5: 33,939,851 (GRCm39)	R16C	probably benign	Het
Lypd8l	T	A	11: 58,499,314 (GRCm39)	Y168F	probably benign	Het
Marf1	A	G	16: 13,956,384 (GRCm39)	V819A	probably damaging	Het
Mfsd4b4	A	T	10: 39,767,948 (GRCm39)	S428T	probably benign	Het
Myo1d	T	C	11: 80,565,783 (GRCm39)	I347M	probably benign	Het
Myo9b	A	G	8: 71,743,463 (GRCm39)	I175V	probably damaging	Het
Naip5	A	T	13: 100,359,922 (GRCm39)	V438E	probably damaging	Het
Nup205	T	A	6: 35,185,044 (GRCm39)	V768E	possibly damaging	Het
Or9g4b	T	A	2: 85,616,726 (GRCm39)	Y290*	probably null	Het
Pcdh15	C	T	10: 74,481,821 (GRCm39)	H1651Y	possibly damaging	Het
Pdgfra	A	T	5: 75,334,055 (GRCm39)	Q376L	possibly damaging	Het
Pign	T	C	1: 105,481,622 (GRCm39)	I791M	probably benign	Het
Pik3c2b	T	G	1: 132,994,041 (GRCm39)	S2A	possibly damaging	Het
Pip5k1a	A	T	3: 94,975,558 (GRCm39)	I304K	probably damaging	Het
Pkdrej	A	T	15: 85,702,054 (GRCm39)	L1294*	probably null	Het
Pprc1	T	C	19: 46,052,872 (GRCm39)	S797P	probably damaging	Het
Prob1	A	G	18: 35,787,321 (GRCm39)	V311A	probably benign	Het
Prune2	C	A	19: 16,977,385 (GRCm39)	T40K	probably damaging	Het
Rif1	T	G	2: 52,002,703 (GRCm39)	D2052E	probably benign	Het
Sall1	A	G	8: 89,759,519 (GRCm39)	V195A	probably damaging	Het
Scfd1	T	C	12: 51,474,729 (GRCm39)		probably null	Het
Sidt2	A	T	9: 45,864,148 (GRCm39)	N123K	probably benign	Het
Slc22a6	G	A	19: 8,599,460 (GRCm39)	A320T	probably benign	Het
Slc25a10	A	G	11: 120,388,973 (GRCm39)	H279R	probably benign	Het
Slc35b4	A	G	6: 34,135,556 (GRCm39)	V252A	probably benign	Het
Slc46a3	T	C	5: 147,823,150 (GRCm39)	T231A	probably benign	Het
Stxbp1	T	A	2: 32,691,905 (GRCm39)	H429L	probably damaging	Het
Tas2r134	C	T	2: 51,517,782 (GRCm39)	T87I	probably benign	Het
Tcstv6	A	G	13: 120,307,666 (GRCm39)	D20G	possibly damaging	Het
Tdpoz2	A	T	3: 93,559,582 (GRCm39)	L130H	probably damaging	Het
Tmem69	T	C	4: 116,411,921 (GRCm39)		probably null	Het
Tmppe	G	A	9: 114,234,591 (GRCm39)	V297I	probably benign	Het
Ung	G	T	5: 114,269,398 (GRCm39)	A37S	probably benign	Het
Vdac1	T	C	11: 52,277,200 (GRCm39)	Y237H	probably damaging	Het
Vgll4	T	C	6: 114,898,328 (GRCm39)	Y11C	probably damaging	Het
Vmn1r24	A	G	6: 57,933,437 (GRCm39)	I27T	probably benign	Het
Zfp280b	T	A	10: 75,875,522 (GRCm39)	M467K	probably benign	Het
Zkscan4	A	G	13: 21,668,535 (GRCm39)	I329V	probably damaging	Het

Other mutations in Or4k6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01488:Or4k6	APN	14	50,475,595 (GRCm39)	missense	possibly damaging	0.87
IGL02304:Or4k6	APN	14	50,476,217 (GRCm39)	missense	probably damaging	1.00
IGL02395:Or4k6	APN	14	50,475,886 (GRCm39)	missense	probably damaging	1.00
IGL03079:Or4k6	APN	14	50,475,581 (GRCm39)	missense	possibly damaging	0.81
R0646:Or4k6	UTSW	14	50,476,096 (GRCm39)	missense	probably damaging	1.00
R1253:Or4k6	UTSW	14	50,475,581 (GRCm39)	missense	probably damaging	1.00
R2027:Or4k6	UTSW	14	50,475,406 (GRCm39)	missense	probably benign
R2364:Or4k6	UTSW	14	50,475,612 (GRCm39)	missense	probably damaging	1.00
R4714:Or4k6	UTSW	14	50,475,824 (GRCm39)	missense	possibly damaging	0.68
R4749:Or4k6	UTSW	14	50,476,190 (GRCm39)	missense	probably damaging	0.96
R5880:Or4k6	UTSW	14	50,476,172 (GRCm39)	missense	possibly damaging	0.95
R7295:Or4k6	UTSW	14	50,476,073 (GRCm39)	missense	probably damaging	0.98
R7419:Or4k6	UTSW	14	50,475,448 (GRCm39)	missense	possibly damaging	0.85
R7457:Or4k6	UTSW	14	50,475,825 (GRCm39)	missense	probably damaging	0.99
R8806:Or4k6	UTSW	14	50,475,376 (GRCm39)	missense	probably benign	0.09
R9350:Or4k6	UTSW	14	50,475,407 (GRCm39)	missense	probably benign
R9446:Or4k6	UTSW	14	50,475,974 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCTGATCTTACTCTCTGGATCG -3'
(R):5'- TGGTGTCTTCATGGTAGCAAC -3'

Sequencing Primer
(F):5'- CAGTCCTTTCACTGTATAATGTGG -3'
(R):5'- AGCAACCAGTGGTGTTATTGCTC -3'

Posted On

2018-11-28