Mutagenetix > Incidental Mutation

Incidental Mutation 'R0423:Or14c39'

38584

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

038625-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R0423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86337549-86344592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86344434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 257 (Y257H)

Ref Sequence

ENSEMBL: ENSMUSP00000079060 (fasta)

Gene Model

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

AlphaFold

F8VQ84

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080165
AA Change: Y257H

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079060
Gene: ENSMUSG00000060688
AA Change: Y257H

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

Meta Mutation Damage Score

0.2238

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.9%

Validation Efficiency

99% (84/85)

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
4930432E11Rik	A	T	7: 29,261,825 (GRCm39)		noncoding transcript	Het
A630001G21Rik	A	G	1: 85,654,187 (GRCm39)	I50T	probably benign	Het
Abhd12	T	C	2: 150,680,312 (GRCm39)	T264A	possibly damaging	Het
Acsm3	T	C	7: 119,376,382 (GRCm39)	Y370H	probably damaging	Het
Ank2	G	T	3: 126,723,509 (GRCm39)	Y3789*	probably null	Het
Anxa4	C	T	6: 86,737,719 (GRCm39)	A1T	probably damaging	Het
Apba1	T	A	19: 23,922,362 (GRCm39)	V810D	probably damaging	Het
Bank1	A	G	3: 135,989,778 (GRCm39)	I104T	possibly damaging	Het
Birc6	T	C	17: 75,003,292 (GRCm39)	Y4721H	probably damaging	Het
Bmpr2	A	G	1: 59,907,669 (GRCm39)	T921A	probably benign	Het
Ccdc102a	A	C	8: 95,632,554 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,869,794 (GRCm39)	D904Y	probably damaging	Het
Ccdc96	A	G	5: 36,642,591 (GRCm39)	K199R	probably benign	Het
Cdh10	G	A	15: 18,986,965 (GRCm39)	V399I	probably benign	Het
Cenpk	A	G	13: 104,370,733 (GRCm39)	T85A	probably benign	Het
Col6a2	A	C	10: 76,450,751 (GRCm39)	V60G	possibly damaging	Het
Cops7b	A	G	1: 86,526,753 (GRCm39)	D119G	probably benign	Het
Cstf2t	A	G	19: 31,061,676 (GRCm39)	E404G	possibly damaging	Het
Ctnna2	A	T	6: 77,630,052 (GRCm39)	V134E	probably damaging	Het
Cwh43	A	C	5: 73,574,085 (GRCm39)	M250L	probably benign	Het
Daam2	T	A	17: 49,776,449 (GRCm39)	K813*	probably null	Het
Dhcr24	G	A	4: 106,443,733 (GRCm39)		probably benign	Het
Dnah8	G	T	17: 30,920,955 (GRCm39)	R1182L	probably benign	Het
Doc2a	C	T	7: 126,447,830 (GRCm39)	P25S	probably damaging	Het
Dst	A	G	1: 34,317,116 (GRCm39)	S6823G	possibly damaging	Het
Espl1	T	A	15: 102,212,421 (GRCm39)	L509*	probably null	Het
Fbxw19	C	T	9: 109,315,134 (GRCm39)	V143I	probably benign	Het
Fbxw5	A	G	2: 25,394,538 (GRCm39)	T171A	possibly damaging	Het
Gfra2	C	T	14: 71,133,521 (GRCm39)	T117M	probably damaging	Het
Gm454	T	A	5: 138,202,403 (GRCm39)		noncoding transcript	Het
Ilrun	A	C	17: 28,005,207 (GRCm39)	Y117D	probably damaging	Het
Kcnq4	A	G	4: 120,574,705 (GRCm39)	S120P	probably damaging	Het
Krt84	A	T	15: 101,437,155 (GRCm39)	L336Q	probably damaging	Het
Lilra6	T	A	7: 3,917,774 (GRCm39)		probably benign	Het
Mbnl2	G	A	14: 120,562,736 (GRCm39)	R29H	probably damaging	Het
Mcm3ap	G	A	10: 76,338,539 (GRCm39)	G1389D	probably benign	Het
Mettl13	A	T	1: 162,371,954 (GRCm39)	I305N	probably damaging	Het
Muc6	A	G	7: 141,238,548 (GRCm39)	S30P	probably benign	Het
Myh7	T	A	14: 55,216,646 (GRCm39)	Q1237L	probably benign	Het
Myo9a	T	G	9: 59,802,619 (GRCm39)	D2035E	probably damaging	Het
Nat10	A	G	2: 103,578,572 (GRCm39)	S211P	probably damaging	Het
Ntm	T	C	9: 29,090,395 (GRCm39)	Y108C	probably damaging	Het
Or7g25	A	T	9: 19,160,248 (GRCm39)	L149*	probably null	Het
Pcdhb16	A	G	18: 37,613,422 (GRCm39)	D794G	probably benign	Het
Phlpp1	A	G	1: 106,267,345 (GRCm39)	T753A	probably benign	Het
Pierce1	T	C	2: 28,356,036 (GRCm39)		probably benign	Het
Pnldc1	T	C	17: 13,108,963 (GRCm39)	Q511R	possibly damaging	Het
Ppip5k2	A	G	1: 97,689,152 (GRCm39)	S38P	possibly damaging	Het
Pygb	A	G	2: 150,665,904 (GRCm39)	K593E	probably benign	Het
Rangap1	A	T	15: 81,589,664 (GRCm39)	F564I	probably damaging	Het
Rictor	A	T	15: 6,803,381 (GRCm39)	I498F	possibly damaging	Het
Rnase12	A	T	14: 51,294,613 (GRCm39)	V22D	probably benign	Het
Rpl7l1	T	A	17: 47,091,324 (GRCm39)	M93L	probably benign	Het
Smg1	T	C	7: 117,776,103 (GRCm39)	R1396G	possibly damaging	Het
Snx19	C	A	9: 30,347,133 (GRCm39)	T692N	probably damaging	Het
Spag6	A	G	2: 18,715,404 (GRCm39)	D61G	probably benign	Het
Spen	T	A	4: 141,206,647 (GRCm39)	N660I	unknown	Het
Sptan1	T	G	2: 29,918,684 (GRCm39)	C2246G	probably null	Het
Svopl	A	G	6: 38,013,642 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,928,078 (GRCm39)	N108K	probably benign	Het
Thbs4	T	C	13: 92,893,079 (GRCm39)	D703G	probably damaging	Het
Tle6	G	T	10: 81,434,457 (GRCm39)	N47K	possibly damaging	Het
Usp48	G	T	4: 137,343,722 (GRCm39)	V452L	probably benign	Het
Ust	A	T	10: 8,173,912 (GRCm39)	S198T	probably damaging	Het
Wnk2	T	A	13: 49,248,894 (GRCm39)	M386L	possibly damaging	Het
Ywhaq	T	C	12: 21,441,382 (GRCm39)		probably benign	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp316	A	G	5: 143,238,993 (GRCm39)	S1009P	probably damaging	Het
Zfp963	A	G	8: 70,197,156 (GRCm39)	Y29H	probably damaging	Het
Zmym4	A	G	4: 126,776,112 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 128,019,607 (GRCm39)	I45T	probably 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
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
R7383:Or14c39	UTSW	7	86,343,960 (GRCm39)	missense	probably damaging	0.97
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'- CACTGGCTTCCCTACTTACCTCTCTTATC -3'
(R):5'- GTGAGGACAGGCATGGAGCAAGAAA -3'

Sequencing Primer
(F):5'- GAGGCTTTCTTGCTCTGACAC -3'
(R):5'- ATTGAGGGGAAATTATAAGCAGTG -3'

Posted On

2013-05-23