Mutagenetix > Incidental Mutation

Incidental Mutation 'R4961:Or4k51'

381742

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

042558-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R4961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111584596-111585534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111584750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 52 (D52V)

Ref Sequence

ENSEMBL: ENSMUSP00000146530 (fasta)

Gene Model

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

AlphaFold

Q8VGE7

Predicted Effect

probably damaging
Transcript: ENSMUST00000080094
AA Change: D52V

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

SMART Domains

Protein: ENSMUSP00000078993
Gene: ENSMUSG00000057149
AA Change: D52V

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 damaging
Transcript: ENSMUST00000207590
AA Change: D52V

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

Meta Mutation Damage Score

0.4660

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.3%
20x: 88.3%

Validation Efficiency

95% (62/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,349,855 (GRCm39)	K65E	probably damaging	Het
Acp5	C	A	9: 22,041,233 (GRCm39)	A65S	probably benign	Het
Adad2	G	A	8: 120,342,397 (GRCm39)	R345H	probably damaging	Het
Adamts7	G	T	9: 90,067,793 (GRCm39)	G428W	probably damaging	Het
Amy1	A	G	3: 113,355,498 (GRCm39)	S326P	probably damaging	Het
Ankrd44	C	T	1: 54,703,071 (GRCm39)	D482N	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano8	G	C	8: 71,935,640 (GRCm39)	P326R	probably damaging	Het
Arhgef26	A	G	3: 62,367,046 (GRCm39)	E793G	probably damaging	Het
Cd9	A	T	6: 125,440,703 (GRCm39)	V96E	probably damaging	Het
Cdh9	A	G	15: 16,850,914 (GRCm39)	N561S	probably benign	Het
Col16a1	G	A	4: 129,948,272 (GRCm39)		probably null	Het
Cpne7	G	A	8: 123,860,498 (GRCm39)	G484R	probably damaging	Het
Dcun1d4	A	T	5: 73,701,463 (GRCm39)	K194*	probably null	Het
Dock3	A	G	9: 106,818,515 (GRCm39)	V1193A	probably damaging	Het
Dst	A	G	1: 34,007,904 (GRCm39)	R113G	possibly damaging	Het
Epha5	A	T	5: 84,381,502 (GRCm39)	S450T	probably damaging	Het
Gm5581	A	T	6: 131,144,190 (GRCm39)		noncoding transcript	Het
Grhl3	A	G	4: 135,279,918 (GRCm39)	Y379H	probably damaging	Het
Herpud1	T	C	8: 95,117,454 (GRCm39)	S13P	probably benign	Het
Jam2	C	T	16: 84,606,435 (GRCm39)	Q150*	probably null	Het
Jph2	C	G	2: 163,217,668 (GRCm39)	R336P	probably damaging	Het
Kansl3	T	A	1: 36,387,764 (GRCm39)		probably null	Het
Kctd1	G	A	18: 15,195,580 (GRCm39)	P348S	probably damaging	Het
Klhl30	T	A	1: 91,285,106 (GRCm39)	S321T	possibly damaging	Het
Klhl5	T	C	5: 65,310,033 (GRCm39)		probably benign	Het
Letm2	T	C	8: 26,084,108 (GRCm39)	H41R	possibly damaging	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Map1b	T	C	13: 99,572,161 (GRCm39)	T187A	probably damaging	Het
Marveld2	T	C	13: 100,748,431 (GRCm39)	N216S	probably benign	Het
Matn1	A	G	4: 130,680,234 (GRCm39)	Y437C	probably damaging	Het
Oas1h	T	C	5: 121,009,159 (GRCm39)	Y290H	probably damaging	Het
Ofcc1	A	G	13: 40,417,035 (GRCm39)		probably null	Het
Or2m12	C	A	16: 19,104,726 (GRCm39)	G256W	probably damaging	Het
Or8g34	A	G	9: 39,373,183 (GRCm39)	Y152C	probably damaging	Het
Otof	C	A	5: 30,540,837 (GRCm39)		probably benign	Het
Pcdh15	G	T	10: 74,215,249 (GRCm39)		probably null	Het
Pgk2	G	A	17: 40,518,412 (GRCm39)	P339S	probably damaging	Het
Piezo2	T	C	18: 63,186,032 (GRCm39)		probably null	Het
Prex2	A	G	1: 11,168,705 (GRCm39)	T234A	possibly damaging	Het
Rasgrf1	C	T	9: 89,826,922 (GRCm39)	T177M	probably benign	Het
Rgs1	A	T	1: 144,124,309 (GRCm39)		probably null	Het
Snx25	T	C	8: 46,521,229 (GRCm39)	N239S	probably damaging	Het
Spata31d1a	T	A	13: 59,849,716 (GRCm39)	H804L	possibly damaging	Het
Spon2	A	T	5: 33,371,896 (GRCm39)	Y303*	probably null	Het
Spopfm2	A	T	3: 94,082,841 (GRCm39)	C323*	probably null	Het
Thrb	G	A	14: 18,011,076 (GRCm38)	D151N	probably benign	Het
Tns1	A	G	1: 73,975,074 (GRCm39)	V1170A	probably benign	Het
Trbv19	A	T	6: 41,155,706 (GRCm39)	I26F	probably damaging	Het
Tstd2	T	C	4: 46,120,467 (GRCm39)	N311S	probably damaging	Het
Ttn	T	A	2: 76,715,746 (GRCm39)		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn1r185	G	A	7: 26,310,716 (GRCm39)	A263V	probably benign	Het
Zfp316	T	C	5: 143,239,169 (GRCm39)	H950R	probably damaging	Het
Zfp51	A	G	17: 21,676,615 (GRCm39)	K29E	probably benign	Het
Zfp644	T	C	5: 106,766,081 (GRCm39)		probably benign	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
R4841:Or4k51	UTSW	2	111,584,679 (GRCm39)	missense	probably benign	0.00
R4915:Or4k51	UTSW	2	111,584,725 (GRCm39)	missense	probably benign	0.00
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'- GTCTGCAGGTTATTTCTAAAGACAC -3'
(R):5'- GCGGTCATAAGCCATTACCACC -3'

Sequencing Primer
(F):5'- GCTCCCTGGTATCAGAAT -3'
(R):5'- GGTCATAAGCCATTACCACCAACAG -3'

Posted On

2016-04-27