Mutagenetix > Incidental Mutation

Incidental Mutation 'R7383:Or14c39'

572872

Institutional Source

Beutler Lab

Gene Symbol

Or14c39

Ensembl Gene

ENSMUSG00000060688

Gene Name

olfactory receptor family 14 subfamily C member 39

Synonyms

Olfr292, MOR220-2, GA_x6K02T2NHDJ-9425121-9424195

MMRRC Submission

045465-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R7383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86337549-86344592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86343960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 99 (I99F)

Ref Sequence

ENSEMBL: ENSMUSP00000079060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080165]

AlphaFold

F8VQ84

Predicted Effect

probably damaging
Transcript: ENSMUST00000080165
AA Change: I99F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079060
Gene: ENSMUSG00000060688
AA Change: I99F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	305	2.6e-48	PFAM
Pfam:7tm_1	39	288	2.7e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	T	A	11: 5,818,548 (GRCm39)	I511N	probably damaging	Het
Ap5m1	T	G	14: 49,311,653 (GRCm39)	V241G	possibly damaging	Het
BC049715	T	A	6: 136,817,453 (GRCm39)	I231N	probably damaging	Het
Bckdhb	T	G	9: 83,835,766 (GRCm39)	V90G	possibly damaging	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Chd8	T	C	14: 52,452,776 (GRCm39)	I1248V	probably damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Ckap4	A	T	10: 84,364,148 (GRCm39)	V305E	probably damaging	Het
Clasrp	C	A	7: 19,319,198 (GRCm39)	R489L	unknown	Het
Col24a1	A	G	3: 145,004,599 (GRCm39)	I26V	probably benign	Het
Cort	C	T	4: 149,209,861 (GRCm39)	A64T	possibly damaging	Het
Dmkn	T	A	7: 30,464,793 (GRCm39)	N255K	unknown	Het
Dph2	A	T	4: 117,748,566 (GRCm39)	L69Q	probably damaging	Het
Fbxo11	A	G	17: 88,310,282 (GRCm39)	I432T		Het
Fgd3	T	C	13: 49,421,785 (GRCm39)	K531R	possibly damaging	Het
Fgd5	A	G	6: 91,964,099 (GRCm39)	K111E	probably benign	Het
Gdf6	T	A	4: 9,859,537 (GRCm39)	D206E	probably benign	Het
Gtpbp1	T	A	15: 79,600,354 (GRCm39)	L429Q	probably damaging	Het
Hk2	A	G	6: 82,726,276 (GRCm39)	F90S	probably damaging	Het
Hrnr	A	T	3: 93,239,098 (GRCm39)	Q3112L	unknown	Het
Hsd17b4	A	C	18: 50,297,917 (GRCm39)	K402T	probably benign	Het
Htr1f	T	C	16: 64,747,206 (GRCm39)	T29A	probably benign	Het
Ikbkb	C	A	8: 23,159,066 (GRCm39)	A471S	probably benign	Het
Inpp5f	A	G	7: 128,296,310 (GRCm39)	D887G	probably damaging	Het
Ipo9	A	G	1: 135,316,411 (GRCm39)	L805P	probably damaging	Het
Jmjd1c	A	T	10: 67,025,537 (GRCm39)	N118I	probably benign	Het
Kif26b	T	G	1: 178,358,275 (GRCm39)	C129G	probably damaging	Het
Mga	G	A	2: 119,790,821 (GRCm39)	A2236T	probably damaging	Het
Micu2	T	C	14: 58,154,810 (GRCm39)	Q405R	possibly damaging	Het
Myo1e	T	A	9: 70,204,577 (GRCm39)	V59D	probably damaging	Het
Nav3	A	G	10: 109,552,532 (GRCm39)	I1770T	probably damaging	Het
Ndufa10	A	T	1: 92,392,183 (GRCm39)	I190N	probably damaging	Het
Niban3	A	C	8: 72,056,470 (GRCm39)	E390A	possibly damaging	Het
Npat	T	A	9: 53,474,078 (GRCm39)	H623Q	probably benign	Het
Npc1l1	T	C	11: 6,167,777 (GRCm39)	T1005A	probably benign	Het
Or10ag58	A	G	2: 87,265,721 (GRCm39)	S297G	possibly damaging	Het
Or1e22	A	G	11: 73,376,715 (GRCm39)	*312Q	probably null	Het
Or2b4	A	G	17: 38,116,972 (GRCm39)	K312R	probably benign	Het
Or2w3	T	C	11: 58,557,011 (GRCm39)	S209P	possibly damaging	Het
Or5t7	A	G	2: 86,507,263 (GRCm39)	V138A	possibly damaging	Het
Or8s8	C	G	15: 98,354,578 (GRCm39)	P129R	probably damaging	Het
Pafah1b2	C	T	9: 45,880,147 (GRCm39)	G177R	probably benign	Het
Phc1	A	G	6: 122,300,317 (GRCm39)	S521P	unknown	Het
Plpp2	A	T	10: 79,366,841 (GRCm39)	L25Q	probably null	Het
Plxna4	A	G	6: 32,129,734 (GRCm39)		probably null	Het
Ppl	G	T	16: 4,915,835 (GRCm39)	P576Q	probably damaging	Het
Rab38	T	C	7: 88,079,637 (GRCm39)	Y10H	possibly damaging	Het
Rbfox1	G	A	16: 6,887,899 (GRCm39)	G13S	probably benign	Het
Rhot1	C	G	11: 80,114,760 (GRCm39)	P56R	probably damaging	Het
Sipa1l2	A	G	8: 126,174,385 (GRCm39)	W1298R	probably damaging	Het
Slc16a14	G	A	1: 84,890,292 (GRCm39)	H338Y	probably damaging	Het
Slc8a3	T	G	12: 81,362,579 (GRCm39)	Y80S	probably damaging	Het
Slco6c1	A	T	1: 97,003,608 (GRCm39)	Y513*	probably null	Het
Smarcd2	A	G	11: 106,155,602 (GRCm39)	C405R	probably damaging	Het
Szt2	G	A	4: 118,222,411 (GRCm39)	R3198*	probably null	Het
Tmeff1	T	A	4: 48,636,841 (GRCm39)	C180S	probably damaging	Het
Tmem132a	A	T	19: 10,844,358 (GRCm39)	M80K	probably benign	Het
Tnfsf12	A	G	11: 69,577,892 (GRCm39)	V175A	probably damaging	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Togaram2	A	T	17: 72,007,512 (GRCm39)	I354F	probably damaging	Het
Uchl5	T	A	1: 143,659,753 (GRCm39)	S42R	probably benign	Het
Virma	C	A	4: 11,514,026 (GRCm39)	L627I	probably damaging	Het
Vmn2r12	A	T	5: 109,240,684 (GRCm39)	I143K	probably benign	Het
Vmn2r95	T	G	17: 18,660,734 (GRCm39)	V382G	probably benign	Het
Wipf3	G	T	6: 54,462,263 (GRCm39)	A158S	probably benign	Het
Ylpm1	T	G	12: 85,091,242 (GRCm39)	S1809A	possibly damaging	Het
Zdhhc5	A	T	2: 84,524,748 (GRCm39)	C191S	probably benign	Het
Zer1	G	A	2: 30,001,253 (GRCm39)	R84C	probably damaging	Het
Zfhx2	A	T	14: 55,305,710 (GRCm39)	V991D	probably benign	Het
Zscan4b	C	A	7: 10,637,960 (GRCm39)	M61I	possibly damaging	Het
Zswim2	A	T	2: 83,745,672 (GRCm39)	S589T	possibly damaging	Het

Other mutations in Or14c39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01575:Or14c39	APN	7	86,344,501 (GRCm39)	missense	probably benign	0.10
IGL01751:Or14c39	APN	7	86,343,997 (GRCm39)	missense	probably benign
IGL02417:Or14c39	APN	7	86,344,027 (GRCm39)	missense	probably damaging	1.00
IGL02534:Or14c39	APN	7	86,343,939 (GRCm39)	missense	probably benign	0.17
IGL02830:Or14c39	APN	7	86,344,382 (GRCm39)	missense	probably damaging	1.00
R0281:Or14c39	UTSW	7	86,344,068 (GRCm39)	missense	probably benign	0.00
R0423:Or14c39	UTSW	7	86,344,434 (GRCm39)	missense	possibly damaging	0.95
R0555:Or14c39	UTSW	7	86,344,516 (GRCm39)	missense	probably damaging	1.00
R0609:Or14c39	UTSW	7	86,344,084 (GRCm39)	missense	possibly damaging	0.85
R0662:Or14c39	UTSW	7	86,343,838 (GRCm39)	missense	possibly damaging	0.88
R1710:Or14c39	UTSW	7	86,344,318 (GRCm39)	missense	probably benign	0.00
R2144:Or14c39	UTSW	7	86,344,488 (GRCm39)	missense	probably damaging	0.98
R4400:Or14c39	UTSW	7	86,343,798 (GRCm39)	missense	probably benign	0.10
R4615:Or14c39	UTSW	7	86,343,936 (GRCm39)	missense	probably damaging	1.00
R4762:Or14c39	UTSW	7	86,344,329 (GRCm39)	missense	probably benign	0.01
R4785:Or14c39	UTSW	7	86,343,736 (GRCm39)	missense	probably damaging	1.00
R4823:Or14c39	UTSW	7	86,343,796 (GRCm39)	missense	probably damaging	0.99
R4908:Or14c39	UTSW	7	86,344,395 (GRCm39)	missense	probably benign	0.00
R4983:Or14c39	UTSW	7	86,343,687 (GRCm39)	missense	probably benign	0.01
R5010:Or14c39	UTSW	7	86,343,793 (GRCm39)	missense	possibly damaging	0.95
R5024:Or14c39	UTSW	7	86,344,089 (GRCm39)	missense	probably benign	0.05
R5157:Or14c39	UTSW	7	86,344,440 (GRCm39)	missense	probably benign	0.19
R5627:Or14c39	UTSW	7	86,344,347 (GRCm39)	missense	possibly damaging	0.93
R6327:Or14c39	UTSW	7	86,343,760 (GRCm39)	missense	probably benign	0.09
R6375:Or14c39	UTSW	7	86,344,267 (GRCm39)	missense	probably benign	0.01
R6775:Or14c39	UTSW	7	86,344,357 (GRCm39)	missense	probably benign	0.02
R7257:Or14c39	UTSW	7	86,344,012 (GRCm39)	missense	probably damaging	0.99
R8475:Or14c39	UTSW	7	86,344,361 (GRCm39)	missense	probably benign	0.21
R9034:Or14c39	UTSW	7	86,343,969 (GRCm39)	missense	probably benign	0.41
R9134:Or14c39	UTSW	7	86,344,588 (GRCm39)	nonsense	probably null
R9588:Or14c39	UTSW	7	86,343,948 (GRCm39)	missense	probably damaging	1.00
R9777:Or14c39	UTSW	7	86,343,988 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GGATCCTACTCAGTGTGCTG -3'
(R):5'- AAGTTTTGGAAGTGTGCACAC -3'

Sequencing Primer
(F):5'- GCAGCCTGTTTGGGAATCTTATCATC -3'
(R):5'- CACACTTGCAAGGATAAGAGAGG -3'

Posted On

2019-09-13