Mutagenetix > Incidental Mutation

Incidental Mutation 'R2680:Or4k2'

250960

Institutional Source

Beutler Lab

Gene Symbol

Or4k2

Ensembl Gene

ENSMUSG00000109835

Gene Name

olfactory receptor family 4 subfamily K member 2

Synonyms

MOR247-1, Olfr730, GA_x6K02T2PMLR-5881670-5880717

MMRRC Submission

040433-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R2680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50423719-50424675 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 50424304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 123 (Y123*)

Ref Sequence

ENSEMBL: ENSMUSP00000145742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051453] [ENSMUST00000205837]

AlphaFold

E9Q8M3

Predicted Effect

probably null
Transcript: ENSMUST00000051453
AA Change: Y124*

SMART Domains

Protein: ENSMUSP00000060325
Gene: ENSMUSG00000109835
AA Change: Y124*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	305	3.4e-44	PFAM
Pfam:7tm_1	42	288	1.2e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000205837
AA Change: Y123*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215779

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC024139	A	G	15: 76,005,939 (GRCm39)	W421R	probably damaging	Het
Car11	T	C	7: 45,351,909 (GRCm39)	S113P	probably benign	Het
Ccdc146	C	T	5: 21,510,267 (GRCm39)	A582T	possibly damaging	Het
Cct8l1	A	G	5: 25,722,133 (GRCm39)	T283A	probably benign	Het
Ckap5	A	G	2: 91,419,043 (GRCm39)	I1118V	probably benign	Het
Copa	C	T	1: 171,948,971 (GRCm39)	Q1199*	probably null	Het
Cpd	A	T	11: 76,681,825 (GRCm39)	N1140K	probably benign	Het
Cspp1	A	G	1: 10,174,530 (GRCm39)	D661G	probably damaging	Het
Dab2	A	G	15: 6,466,474 (GRCm39)	Q729R	possibly damaging	Het
Dnah9	T	C	11: 65,924,751 (GRCm39)	I2168V	probably benign	Het
Dync1h1	G	A	12: 110,609,681 (GRCm39)	R2821H	probably damaging	Het
Ercc5	T	C	1: 44,196,133 (GRCm39)	V42A	probably benign	Het
Evc	A	G	5: 37,467,581 (GRCm39)	V566A	probably benign	Het
Fcrl2	T	C	3: 87,164,656 (GRCm39)	Y290C	probably damaging	Het
Frmd4a	A	G	2: 4,539,364 (GRCm39)	R171G	probably damaging	Het
Galnt17	G	A	5: 131,140,661 (GRCm39)	P152L	probably damaging	Het
Gfi1	A	G	5: 107,869,297 (GRCm39)	L245P	probably damaging	Het
Heatr4	T	C	12: 84,027,237 (GRCm39)	K7E	possibly damaging	Het
Ifit3b	A	G	19: 34,589,705 (GRCm39)	N294D	probably benign	Het
Ift74	A	G	4: 94,541,265 (GRCm39)	Y230C	probably damaging	Het
Igsf10	C	T	3: 59,232,875 (GRCm39)	V1953I	probably benign	Het
Ikzf5	T	C	7: 130,998,490 (GRCm39)	D14G	probably damaging	Het
Il12rb2	T	A	6: 67,331,789 (GRCm39)	T259S	possibly damaging	Het
Itgae	T	A	11: 73,005,752 (GRCm39)	D305E	probably damaging	Het
Kif23	A	C	9: 61,844,758 (GRCm39)	D90E	probably benign	Het
Kprp	A	G	3: 92,731,770 (GRCm39)	F427L	unknown	Het
Lmnb1	T	A	18: 56,864,177 (GRCm39)	Y261N	probably damaging	Het
Megf8	T	C	7: 25,016,981 (GRCm39)	V17A	probably benign	Het
Mfap4	T	C	11: 61,378,057 (GRCm39)	Y190H	probably benign	Het
Mlh1	T	C	9: 111,065,085 (GRCm39)		probably null	Het
Mocos	C	A	18: 24,809,686 (GRCm39)	Q430K	probably damaging	Het
Ndst2	A	G	14: 20,774,822 (GRCm39)	F794L	probably damaging	Het
Nedd4l	A	T	18: 65,296,201 (GRCm39)	I197F	possibly damaging	Het
Nefm	A	G	14: 68,361,235 (GRCm39)	L343P	probably damaging	Het
Nfatc4	A	G	14: 56,070,291 (GRCm39)		probably benign	Het
Nlrp4a	T	A	7: 26,148,655 (GRCm39)		probably null	Het
Nlrp4f	A	T	13: 65,342,157 (GRCm39)	L496*	probably null	Het
Nom1	T	C	5: 29,648,415 (GRCm39)	F654S	probably damaging	Het
Pcdhac2	A	G	18: 37,278,639 (GRCm39)	K540E	possibly damaging	Het
Pde4dip	T	C	3: 97,608,933 (GRCm39)	N1974S	possibly damaging	Het
Pik3c3	T	C	18: 30,477,131 (GRCm39)		probably null	Het
Pik3ca	C	T	3: 32,490,697 (GRCm39)	R115*	probably null	Het
Pik3ca	T	C	3: 32,498,034 (GRCm39)	I492T	probably benign	Het
Ppp1ca	G	A	19: 4,244,594 (GRCm39)	E218K	possibly damaging	Het
Prex1	G	T	2: 166,443,692 (GRCm39)	D492E	possibly damaging	Het
Scaf8	T	C	17: 3,247,866 (GRCm39)	V1063A	possibly damaging	Het
Scn3a	G	T	2: 65,366,880 (GRCm39)	N47K	probably benign	Het
Sec61a2	G	T	2: 5,878,556 (GRCm39)	N348K	probably benign	Het
Sh3rf2	A	G	18: 42,234,715 (GRCm39)	E166G	probably damaging	Het
Slc19a2	C	A	1: 164,076,982 (GRCm39)	T54K	probably damaging	Het
Slc8a3	T	A	12: 81,249,113 (GRCm39)	I765F	probably damaging	Het
Snap91	A	T	9: 86,761,603 (GRCm39)	M1K	probably null	Het
Spef1l	T	C	7: 139,558,474 (GRCm39)	D41G	probably damaging	Het
Strc	T	C	2: 121,195,592 (GRCm39)	H1619R	probably damaging	Het
Tbl1xr1	C	T	3: 22,245,615 (GRCm39)	T207M	possibly damaging	Het
Tchp	T	C	5: 114,847,580 (GRCm39)		probably null	Het
Tln1	A	T	4: 43,539,668 (GRCm39)	F1581Y	probably damaging	Het
Tnxb	T	C	17: 34,922,594 (GRCm39)	V2469A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r225	T	A	17: 20,723,055 (GRCm39)	F165L	probably benign	Het
Vmn2r13	T	C	5: 109,322,178 (GRCm39)	D173G	possibly damaging	Het
Vmn2r6	A	C	3: 64,445,707 (GRCm39)	S673A	possibly damaging	Het
Vta1	G	A	10: 14,581,171 (GRCm39)		probably benign	Het
Wwc1	T	C	11: 35,766,756 (GRCm39)	T500A	probably benign	Het
Zfp784	T	A	7: 5,039,116 (GRCm39)	Q147H	possibly damaging	Het

Other mutations in Or4k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01998:Or4k2	APN	14	50,424,105 (GRCm39)	missense	probably benign	0.36
IGL02976:Or4k2	APN	14	50,423,889 (GRCm39)	nonsense	probably null
IGL03065:Or4k2	APN	14	50,424,465 (GRCm39)	missense	probably damaging	1.00
IGL03122:Or4k2	APN	14	50,424,461 (GRCm39)	missense	probably damaging	0.98
R0277:Or4k2	UTSW	14	50,423,789 (GRCm39)	missense	probably null	0.06
R1081:Or4k2	UTSW	14	50,424,654 (GRCm39)	missense	probably damaging	1.00
R1189:Or4k2	UTSW	14	50,424,539 (GRCm39)	missense	probably damaging	0.99
R1501:Or4k2	UTSW	14	50,424,539 (GRCm39)	missense	probably damaging	0.99
R2869:Or4k2	UTSW	14	50,423,811 (GRCm39)	missense	probably benign	0.08
R2869:Or4k2	UTSW	14	50,423,811 (GRCm39)	missense	probably benign	0.08
R3415:Or4k2	UTSW	14	50,424,069 (GRCm39)	missense	possibly damaging	0.60
R3417:Or4k2	UTSW	14	50,424,069 (GRCm39)	missense	possibly damaging	0.60
R3721:Or4k2	UTSW	14	50,424,137 (GRCm39)	missense	probably damaging	1.00
R4864:Or4k2	UTSW	14	50,424,039 (GRCm39)	missense	probably damaging	0.97
R5037:Or4k2	UTSW	14	50,423,745 (GRCm39)	missense	probably benign	0.00
R5349:Or4k2	UTSW	14	50,424,230 (GRCm39)	nonsense	probably null
R5738:Or4k2	UTSW	14	50,424,105 (GRCm39)	missense	probably benign	0.09
R5779:Or4k2	UTSW	14	50,424,203 (GRCm39)	missense	possibly damaging	0.82
R5853:Or4k2	UTSW	14	50,424,326 (GRCm39)	missense	possibly damaging	0.88
R5918:Or4k2	UTSW	14	50,424,425 (GRCm39)	missense	probably benign
R6166:Or4k2	UTSW	14	50,424,225 (GRCm39)	missense	probably benign
R6196:Or4k2	UTSW	14	50,424,135 (GRCm39)	missense	probably damaging	1.00
R6218:Or4k2	UTSW	14	50,424,135 (GRCm39)	missense	probably damaging	1.00
R6220:Or4k2	UTSW	14	50,424,135 (GRCm39)	missense	probably damaging	1.00
R6561:Or4k2	UTSW	14	50,423,775 (GRCm39)	missense	probably damaging	1.00
R6798:Or4k2	UTSW	14	50,424,584 (GRCm39)	missense	probably benign	0.00
R6834:Or4k2	UTSW	14	50,423,940 (GRCm39)	missense	probably benign	0.12
R7174:Or4k2	UTSW	14	50,424,153 (GRCm39)	missense	probably benign	0.00
R7406:Or4k2	UTSW	14	50,424,015 (GRCm39)	missense	probably damaging	0.97
R7592:Or4k2	UTSW	14	50,424,020 (GRCm39)	missense	probably damaging	1.00
R7886:Or4k2	UTSW	14	50,424,021 (GRCm39)	missense	probably damaging	1.00
R8081:Or4k2	UTSW	14	50,423,825 (GRCm39)	missense	probably damaging	1.00
R8280:Or4k2	UTSW	14	50,423,723 (GRCm39)	nonsense	probably null
R8393:Or4k2	UTSW	14	50,424,342 (GRCm39)	nonsense	probably null
R8526:Or4k2	UTSW	14	50,423,719 (GRCm39)	splice site	probably null
R8683:Or4k2	UTSW	14	50,424,203 (GRCm39)	missense	possibly damaging	0.82
R8936:Or4k2	UTSW	14	50,423,999 (GRCm39)	missense	possibly damaging	0.82
R9285:Or4k2	UTSW	14	50,424,122 (GRCm39)	missense	probably benign	0.40
X0023:Or4k2	UTSW	14	50,424,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAACACCACAGGAAGGTC -3'
(R):5'- ATAGTCCTCATCGTCATATCTGAC -3'

Sequencing Primer
(F):5'- GAAGGTCACAGAAAAAGCTATCTATC -3'
(R):5'- GACTCTCACCTACACTCTGCTATG -3'

Posted On

2014-12-04