Mutagenetix > Incidental Mutation

Incidental Mutation 'R6115:Or4k49'

485061

Institutional Source

Beutler Lab

Gene Symbol

Or4k49

Ensembl Gene

ENSMUSG00000109219

Gene Name

olfactory receptor family 4 subfamily K member 49

Synonyms

Olfr1299, GA_x6K02T2Q125-72715642-72716580, MOR248-8

MMRRC Submission

044264-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R6115 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111491798-111495511 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 111494987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 139 (K139*)

Ref Sequence

ENSEMBL: ENSMUSP00000149299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207228] [ENSMUST00000208175] [ENSMUST00000213511]

AlphaFold

Q7TQX5

Predicted Effect

probably null
Transcript: ENSMUST00000207228
AA Change: K139*

Predicted Effect

probably benign
Transcript: ENSMUST00000208175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208983

Predicted Effect

probably null
Transcript: ENSMUST00000213511
AA Change: K139*

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (51/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	G	5: 64,055,317 (GRCm39)	Q18E	probably damaging	Het
Acsf3	T	A	8: 123,517,411 (GRCm39)	H402Q	probably damaging	Het
Adam34	T	G	8: 44,105,098 (GRCm39)	Q182H	probably benign	Het
Alx1	G	A	10: 102,864,304 (GRCm39)	P55L	possibly damaging	Het
Arhgef38	A	T	3: 132,838,374 (GRCm39)		probably null	Het
Ccdc102a	T	C	8: 95,629,999 (GRCm39)	N514S	probably benign	Het
Corin	T	A	5: 72,518,072 (GRCm39)	T317S	probably damaging	Het
Ctnna2	A	G	6: 77,613,822 (GRCm39)	V256A	probably benign	Het
Dhx29	A	T	13: 113,089,335 (GRCm39)		probably null	Het
Dnah2	C	A	11: 69,337,475 (GRCm39)	D3209Y	probably damaging	Het
Dnhd1	A	G	7: 105,363,194 (GRCm39)	T3919A	probably benign	Het
F7	T	A	8: 13,083,958 (GRCm39)	N214K	probably benign	Het
Fam3b	T	G	16: 97,276,568 (GRCm39)	Q177H	possibly damaging	Het
Fign	T	C	2: 63,809,654 (GRCm39)	I539V	probably benign	Het
Hc	T	G	2: 34,903,050 (GRCm39)	D1067A	probably damaging	Het
Herc6	A	G	6: 57,560,191 (GRCm39)	D77G	probably benign	Het
Hmg20a	A	T	9: 56,397,116 (GRCm39)	E305D	possibly damaging	Het
Il16	G	A	7: 83,301,775 (GRCm39)	Q116*	probably null	Het
Kif13a	T	A	13: 46,954,789 (GRCm39)	I648F	probably damaging	Het
Lactb	G	T	9: 66,874,969 (GRCm39)	N374K	possibly damaging	Het
Lmx1b	T	C	2: 33,459,118 (GRCm39)	D145G	probably damaging	Het
Lrfn4	T	C	19: 4,663,937 (GRCm39)	D199G	probably damaging	Het
Lrrc49	A	T	9: 60,522,444 (GRCm39)	V307E	possibly damaging	Het
Magi1	A	C	6: 93,685,051 (GRCm39)	S776A	possibly damaging	Het
Mthfsl	T	A	9: 88,570,807 (GRCm39)	*147L	probably null	Het
Nsmce4a	G	T	7: 130,148,722 (GRCm39)	Q95K	probably benign	Het
Or1j15	A	T	2: 36,458,963 (GRCm39)	M118L	probably damaging	Het
Or4k37	A	G	2: 111,159,558 (GRCm39)	T265A	probably benign	Het
Or5b24	T	C	19: 12,912,948 (GRCm39)	V282A	possibly damaging	Het
Pcdha7	A	G	18: 37,107,788 (GRCm39)	E271G	probably damaging	Het
Pcdhga8	T	A	18: 37,860,596 (GRCm39)	F551I	possibly damaging	Het
Prpf31	T	C	7: 3,642,705 (GRCm39)		probably null	Het
Qrfpr	C	T	3: 36,236,742 (GRCm39)	V220I	possibly damaging	Het
Rnf170	T	C	8: 26,615,994 (GRCm39)	F95S	possibly damaging	Het
Scn9a	T	A	2: 66,393,973 (GRCm39)	Y200F	possibly damaging	Het
Sfpq	A	T	4: 126,915,141 (GRCm39)		probably null	Het
Slc9c1	A	T	16: 45,376,132 (GRCm39)	Y406F	probably damaging	Het
Stk32c	G	T	7: 138,700,628 (GRCm39)	Y200*	probably null	Het
Svil	A	G	18: 5,108,675 (GRCm39)	R1938G	probably damaging	Het
Sycp2	G	C	2: 177,990,038 (GRCm39)	R1403G	probably benign	Het
Tm9sf4	T	C	2: 153,024,409 (GRCm39)		probably null	Het
Tmc3	A	T	7: 83,264,170 (GRCm39)	M633L	possibly damaging	Het
Tmem163	T	C	1: 127,605,185 (GRCm39)	D61G	possibly damaging	Het
Unc5b	C	A	10: 60,613,325 (GRCm39)	A304S	probably benign	Het
Vmn2r106	G	A	17: 20,488,638 (GRCm39)	P587L	probably benign	Het
Vmn2r18	A	T	5: 151,508,462 (GRCm39)	S221T	possibly damaging	Het
Vmn2r85	T	G	10: 130,258,672 (GRCm39)	Y461S	probably damaging	Het
Yod1	T	C	1: 130,646,800 (GRCm39)	F226L	possibly damaging	Het
Zbtb4	T	C	11: 69,667,148 (GRCm39)	I151T	probably damaging	Het
Zfp110	A	T	7: 12,583,701 (GRCm39)	Q783L	probably damaging	Het

Other mutations in Or4k49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Or4k49	APN	2	111,495,489 (GRCm39)	missense	probably benign	0.00
IGL02090:Or4k49	APN	2	111,495,333 (GRCm39)	missense	probably damaging	0.99
IGL02213:Or4k49	APN	2	111,495,020 (GRCm39)	missense	probably benign	0.05
R0603:Or4k49	UTSW	2	111,495,225 (GRCm39)	missense	probably damaging	1.00
R1598:Or4k49	UTSW	2	111,495,099 (GRCm39)	missense	probably damaging	1.00
R1802:Or4k49	UTSW	2	111,495,099 (GRCm39)	missense	probably damaging	1.00
R1803:Or4k49	UTSW	2	111,495,099 (GRCm39)	missense	probably damaging	1.00
R1885:Or4k49	UTSW	2	111,495,099 (GRCm39)	missense	probably damaging	1.00
R1887:Or4k49	UTSW	2	111,495,099 (GRCm39)	missense	probably damaging	1.00
R1962:Or4k49	UTSW	2	111,495,234 (GRCm39)	missense	probably damaging	1.00
R2024:Or4k49	UTSW	2	111,495,168 (GRCm39)	missense	possibly damaging	0.53
R2438:Or4k49	UTSW	2	111,495,096 (GRCm39)	missense	probably damaging	1.00
R5132:Or4k49	UTSW	2	111,495,344 (GRCm39)	missense	probably damaging	1.00
R5938:Or4k49	UTSW	2	111,494,708 (GRCm39)	missense	probably benign
R6336:Or4k49	UTSW	2	111,494,964 (GRCm39)	missense	possibly damaging	0.81
R6418:Or4k49	UTSW	2	111,494,817 (GRCm39)	missense	probably benign	0.00
R7196:Or4k49	UTSW	2	111,495,042 (GRCm39)	missense	probably damaging	0.97
R7539:Or4k49	UTSW	2	111,494,778 (GRCm39)	missense	possibly damaging	0.83
R8262:Or4k49	UTSW	2	111,494,587 (GRCm39)	missense	possibly damaging	0.89
R8331:Or4k49	UTSW	2	111,494,727 (GRCm39)	missense	possibly damaging	0.95
R9765:Or4k49	UTSW	2	111,495,230 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GTTGGCCAACCTGTCCTTTG -3'
(R):5'- CCAAATCATGGGAATCTGTGCAG -3'

Sequencing Primer
(F):5'- AACCTGTCCTTTGTTGATATATGGC -3'
(R):5'- ATCATGGGAATCTGTGCAGGCTAG -3'

Posted On

2017-08-16