Mutagenetix > Incidental Mutation

Incidental Mutation 'R9272:Or4k51'

703000

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

Accession Numbers

Essential gene?

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

Stock #

R9272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111584596-111585534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111584965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 124 (V124M)

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: V124M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078993
Gene: ENSMUSG00000057149
AA Change: V124M

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: V124M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	G	6: 146,854,499 (GRCm39)	V181A	probably damaging	Het
Abca16	T	A	7: 120,076,993 (GRCm39)	D686E	probably benign	Het
Abca8a	C	A	11: 109,953,908 (GRCm39)	C844F	probably damaging	Het
Acd	G	A	8: 106,424,952 (GRCm39)	P396L	probably damaging	Het
Adamtsl3	A	G	7: 82,189,753 (GRCm39)	Y659C	probably damaging	Het
Ankfn1	C	T	11: 89,413,875 (GRCm39)	V167M	probably benign	Het
Ankrd13c	T	A	3: 157,700,358 (GRCm39)	L393Q	possibly damaging	Het
Arid1b	G	A	17: 5,386,879 (GRCm39)	G1391D	possibly damaging	Het
Arid5b	T	A	10: 67,937,882 (GRCm39)	D415V	probably damaging	Het
Arl13b	G	T	16: 62,647,774 (GRCm39)	H45N	probably benign	Het
Atp13a4	A	T	16: 29,268,797 (GRCm39)	I519N		Het
Atrnl1	T	C	19: 57,643,420 (GRCm39)	I436T	probably benign	Het
Bbx	A	G	16: 50,022,935 (GRCm39)	I675T	probably damaging	Het
Bcas1	A	T	2: 170,190,040 (GRCm39)	V619E	probably damaging	Het
Cad	T	C	5: 31,218,576 (GRCm39)	V501A	possibly damaging	Het
Car8	T	A	4: 8,169,686 (GRCm39)	N274I	probably damaging	Het
Ccdc3	A	G	2: 5,146,143 (GRCm39)	Q159R	probably damaging	Het
Ccdc7b	A	T	8: 129,893,459 (GRCm39)	E95D	possibly damaging	Het
Cdh12	G	T	15: 21,492,801 (GRCm39)		probably benign	Het
Col11a1	G	T	3: 113,901,948 (GRCm39)	G548*	probably null	Het
Cpb2	A	G	14: 75,520,803 (GRCm39)	E406G	probably damaging	Het
Crocc	T	C	4: 140,747,132 (GRCm39)	S1723G	probably benign	Het
Ctu2	T	C	8: 123,206,045 (GRCm39)	V262A	probably benign	Het
Dmxl2	A	T	9: 54,311,404 (GRCm39)	N1772K	possibly damaging	Het
Dock3	A	T	9: 106,774,569 (GRCm39)	M62K	probably benign	Het
Dok7	G	A	5: 35,214,239 (GRCm39)		probably benign	Het
E2f3	A	G	13: 30,102,629 (GRCm39)	Y211H	probably damaging	Het
Elapor2	T	C	5: 9,460,699 (GRCm39)	Y207H	probably damaging	Het
Fam53c	T	A	18: 34,895,774 (GRCm39)	S25R	probably damaging	Het
Fhod3	T	G	18: 25,030,681 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,180,033 (GRCm39)	Y623H	unknown	Het
Ggt1	A	T	10: 75,421,749 (GRCm39)	H532L	probably benign	Het
Gm10775	A	C	13: 65,407,770 (GRCm39)	T24P	unknown	Het
Hinfp	A	G	9: 44,213,872 (GRCm39)	S2P	probably benign	Het
Hs3st4	A	G	7: 123,582,749 (GRCm39)	T116A	probably benign	Het
Ighv5-9-1	A	T	12: 113,699,818 (GRCm39)	I98N	probably damaging	Het
Ipo11	A	T	13: 107,046,713 (GRCm39)	Y171N	probably benign	Het
Jph1	C	A	1: 17,161,838 (GRCm39)	A275S	probably damaging	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kcnh7	A	T	2: 62,618,097 (GRCm39)	I464K	probably damaging	Het
Lrp8	C	A	4: 107,717,158 (GRCm39)	P603T	probably benign	Het
Man1c1	C	A	4: 134,291,118 (GRCm39)	D593Y	probably damaging	Het
Mdm4	A	T	1: 132,929,169 (GRCm39)	I176K	possibly damaging	Het
Mpo	T	C	11: 87,686,693 (GRCm39)	V139A	probably benign	Het
Niban3	A	C	8: 72,055,520 (GRCm39)	D310A	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1f12	A	G	13: 21,721,864 (GRCm39)	S89P	possibly damaging	Het
Or9g4b	A	T	2: 85,616,088 (GRCm39)	I78L	probably benign	Het
Pcdh7	A	G	5: 57,878,779 (GRCm39)	D778G	possibly damaging	Het
Pcdhb12	T	C	18: 37,570,675 (GRCm39)	F607S	probably damaging	Het
Pcolce	A	G	5: 137,606,333 (GRCm39)	F157L	probably benign	Het
Pogk	T	C	1: 166,226,780 (GRCm39)	Y457C	probably damaging	Het
Ppp1r21	G	A	17: 88,866,086 (GRCm39)	E323K	possibly damaging	Het
Prkn	T	A	17: 11,456,527 (GRCm39)	V117E	probably damaging	Het
Prr12	A	C	7: 44,692,811 (GRCm39)	F1574V	probably damaging	Het
Rasl2-9	A	T	7: 5,128,448 (GRCm39)	F161I	probably damaging	Het
Rb1	A	G	14: 73,517,602 (GRCm39)	I268T	possibly damaging	Het
Rin3	A	T	12: 102,335,691 (GRCm39)	D534V	probably damaging	Het
Scn5a	C	T	9: 119,315,717 (GRCm39)	G1664S	probably damaging	Het
Sin3b	T	C	8: 73,471,168 (GRCm39)	S372P	probably benign	Het
Snx32	T	A	19: 5,548,485 (GRCm39)	H65L	probably damaging	Het
Spidr	T	A	16: 15,855,544 (GRCm39)	I324F	probably damaging	Het
Stab1	A	T	14: 30,867,298 (GRCm39)	F1687L	probably benign	Het
Taar6	T	C	10: 23,860,903 (GRCm39)	I214M	probably benign	Het
Vmn2r105	T	A	17: 20,447,685 (GRCm39)	N380Y	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
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
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
R9451:Or4k51	UTSW	2	111,585,218 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GACAAGAATCTCCATTCTCCCATG -3'
(R):5'- TGGGAATCCATGCAAGCTAG -3'

Sequencing Primer
(F):5'- GGCCAACCTGTCCTTTGTTGATATG -3'
(R):5'- GCTTGATTATAAGTGGTATGTCACAG -3'

Posted On

2022-03-25