Mutagenetix > Incidental Mutation

Incidental Mutation 'R1103:Or6k4'

98234

Institutional Source

Beutler Lab

Gene Symbol

Or6k4

Ensembl Gene

ENSMUSG00000051528

Gene Name

olfactory receptor family 6 subfamily K member 4

Synonyms

MOR105-2, GA_x6K02T2P20D-21025190-21024243, Olfr424

MMRRC Submission

039176-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R1103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173964312-173965259 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173964457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 49 (V49A)

Ref Sequence

ENSEMBL: ENSMUSP00000150840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053941] [ENSMUST00000214751]

AlphaFold

E9Q0Q2

Predicted Effect

probably benign
Transcript: ENSMUST00000053941
AA Change: V49A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000054305
Gene: ENSMUSG00000051528
AA Change: V49A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	6.1e-63	PFAM
Pfam:7tm_1	41	289	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214751
AA Change: V49A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218625

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

97% (60/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
4930524J08Rik	G	A	5: 100,126,980 (GRCm39)		probably benign	Het
Adam3	T	A	8: 25,204,287 (GRCm39)		probably benign	Het
Adpgk	A	G	9: 59,221,079 (GRCm39)	H295R	probably damaging	Het
Aftph	A	T	11: 20,676,547 (GRCm39)	M199K	probably benign	Het
Ap2a1	C	A	7: 44,553,593 (GRCm39)		probably benign	Het
Atpaf2	T	C	11: 60,294,776 (GRCm39)	I216V	probably benign	Het
Bag4	A	T	8: 26,257,891 (GRCm39)		probably benign	Het
Bltp1	A	T	3: 37,050,672 (GRCm39)	M3003L	probably benign	Het
Bud23	T	C	5: 135,089,993 (GRCm39)	S67G	probably damaging	Het
Cfap157	A	G	2: 32,671,410 (GRCm39)	F132S	probably damaging	Het
Cngb3	G	A	4: 19,309,658 (GRCm39)		probably null	Het
Cntnap5a	A	G	1: 116,508,399 (GRCm39)	I1304V	possibly damaging	Het
Cp	A	G	3: 20,036,149 (GRCm39)	K764E	possibly damaging	Het
Crebbp	A	G	16: 3,901,925 (GRCm39)	V2438A	probably damaging	Het
Csmd3	A	T	15: 47,811,402 (GRCm39)	W1230R	probably damaging	Het
Cul1	G	A	6: 47,494,111 (GRCm39)	V475I	probably benign	Het
Dnttip2	T	C	3: 122,070,071 (GRCm39)	S429P	probably benign	Het
Dtwd1	T	C	2: 125,996,643 (GRCm39)	S43P	probably damaging	Het
Ect2l	T	C	10: 18,016,274 (GRCm39)	T705A	probably damaging	Het
Erbin	G	T	13: 104,022,710 (GRCm39)	T43N	probably benign	Het
Fcgbpl1	G	T	7: 27,853,945 (GRCm39)	L1636F	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Gpr150	G	T	13: 76,203,712 (GRCm39)	P411Q	probably damaging	Het
Grap	C	A	11: 61,562,544 (GRCm39)	Q172K	probably benign	Het
Ido2	G	A	8: 25,066,239 (GRCm39)	T9M	probably benign	Het
Klkb1	C	A	8: 45,729,183 (GRCm39)	C347F	probably damaging	Het
Klra17	G	A	6: 129,845,806 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,097,942 (GRCm39)	L1774P	probably damaging	Het
Lhpp	A	T	7: 132,212,484 (GRCm39)	D17V	probably damaging	Het
Lrfn4	T	C	19: 4,663,299 (GRCm39)	T412A	probably benign	Het
Lrrc7	C	T	3: 157,854,343 (GRCm39)		probably benign	Het
Ltbp3	A	T	19: 5,797,439 (GRCm39)		probably null	Het
Ltbp3	G	C	19: 5,797,440 (GRCm39)		probably null	Het
Luzp1	T	A	4: 136,268,041 (GRCm39)	L88Q	possibly damaging	Het
Magi2	T	C	5: 20,816,101 (GRCm39)	I747T	probably damaging	Het
Map1b	A	T	13: 99,563,974 (GRCm39)		probably benign	Het
Map3k4	A	T	17: 12,455,950 (GRCm39)		probably null	Het
Map3k5	C	A	10: 19,899,422 (GRCm39)	D226E	probably benign	Het
Mtf1	T	A	4: 124,732,261 (GRCm39)	S440T	probably benign	Het
Myo18a	T	A	11: 77,714,156 (GRCm39)	L389Q	probably damaging	Het
Myom2	A	G	8: 15,160,827 (GRCm39)	D900G	probably benign	Het
Nfasc	T	C	1: 132,534,795 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,912,309 (GRCm39)	S7044R	probably damaging	Het
Or5bw2	T	A	7: 6,573,111 (GRCm39)	N40K	probably damaging	Het
Or5e1	T	C	7: 108,354,090 (GRCm39)	V9A	possibly damaging	Het
Pde4c	T	A	8: 71,201,066 (GRCm39)	H421Q	probably damaging	Het
Pnmt	G	T	11: 98,278,502 (GRCm39)	R156L	probably benign	Het
Pramel22	A	C	4: 143,381,942 (GRCm39)	C251W	probably damaging	Het
Rnf138	A	G	18: 21,159,159 (GRCm39)	E193G	probably damaging	Het
Sesn1	G	T	10: 41,778,589 (GRCm39)	R346L	possibly damaging	Het
Setd4	G	T	16: 93,382,082 (GRCm39)	H390Q	probably benign	Het
Supt6	T	C	11: 78,116,299 (GRCm39)	E688G	possibly damaging	Het
Syne2	G	A	12: 76,156,609 (GRCm39)	D6802N	probably benign	Het
Syt16	A	G	12: 74,313,672 (GRCm39)	K533E	probably damaging	Het
Tg	A	T	15: 66,591,504 (GRCm39)	Q26H	probably benign	Het
Trim33	G	T	3: 103,218,201 (GRCm39)	W250L	probably damaging	Het
Trip4	A	G	9: 65,788,188 (GRCm39)	C86R	probably benign	Het
Upf2	T	A	2: 6,030,986 (GRCm39)	C809S	unknown	Het
Vrk2	A	G	11: 26,499,325 (GRCm39)	F76L	probably damaging	Het
Zfp804a	A	G	2: 82,087,844 (GRCm39)	T558A	probably damaging	Het

Other mutations in Or6k4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01453:Or6k4	APN	1	173,964,679 (GRCm39)	missense	possibly damaging	0.46
IGL01651:Or6k4	APN	1	173,964,907 (GRCm39)	missense	probably damaging	0.96
R0194:Or6k4	UTSW	1	173,964,327 (GRCm39)	missense	probably benign	0.04
R0357:Or6k4	UTSW	1	173,964,865 (GRCm39)	nonsense	probably null
R0732:Or6k4	UTSW	1	173,964,981 (GRCm39)	missense	possibly damaging	0.85
R1623:Or6k4	UTSW	1	173,964,883 (GRCm39)	missense	probably damaging	0.98
R1829:Or6k4	UTSW	1	173,964,760 (GRCm39)	missense	probably benign	0.12
R6617:Or6k4	UTSW	1	173,964,814 (GRCm39)	missense	probably damaging	1.00
R7060:Or6k4	UTSW	1	173,964,376 (GRCm39)	missense	probably benign	0.00
R7203:Or6k4	UTSW	1	173,964,680 (GRCm39)	nonsense	probably null
R7625:Or6k4	UTSW	1	173,964,733 (GRCm39)	missense	probably benign	0.13
R7994:Or6k4	UTSW	1	173,964,273 (GRCm39)	start gained	probably benign
R8035:Or6k4	UTSW	1	173,964,490 (GRCm39)	missense	probably damaging	1.00
R8127:Or6k4	UTSW	1	173,965,155 (GRCm39)	missense	probably damaging	1.00
R8802:Or6k4	UTSW	1	173,964,616 (GRCm39)	missense	probably damaging	1.00
R9102:Or6k4	UTSW	1	173,964,322 (GRCm39)	missense
R9296:Or6k4	UTSW	1	173,964,835 (GRCm39)	missense	probably benign	0.02
R9374:Or6k4	UTSW	1	173,964,885 (GRCm39)	missense	probably benign	0.34
R9551:Or6k4	UTSW	1	173,964,885 (GRCm39)	missense	probably benign	0.34
R9552:Or6k4	UTSW	1	173,964,885 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- AGCTGTGTGTTTCCACCCATGAG -3'
(R):5'- ATTTGGTTGGGGCCACAGAAGG -3'

Sequencing Primer
(F):5'- TTCCACCCATGAGGATAAACTTGG -3'
(R):5'- GTGTGGAAATCCAAGCAATCTCTG -3'

Posted On

2014-01-05