Mutagenetix > Incidental Mutation

Incidental Mutation 'R0662:Or14c39'

61893

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

038847-MU

Accession Numbers

Essential gene?

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

Stock #

R0662 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

86337549-86344592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86343838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 58 (Y58C)

Ref Sequence

ENSEMBL: ENSMUSP00000079060 (fasta)

Gene Model

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

AlphaFold

F8VQ84

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080165
AA Change: Y58C

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079060
Gene: ENSMUSG00000060688
AA Change: Y58C

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: 99.3%
3x: 98.6%
10x: 96.6%
20x: 91.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,898,338 (GRCm39)	S241P	probably benign	Het
Ankrd53	G	T	6: 83,740,625 (GRCm39)	V83L	probably damaging	Het
Armcx2	G	A	X: 133,706,385 (GRCm39)	T416I	possibly damaging	Het
C4b	G	A	17: 34,949,862 (GRCm39)	R1441C	probably damaging	Het
Cacng3	T	C	7: 122,367,582 (GRCm39)	I154T	probably damaging	Het
Cand2	A	G	6: 115,764,171 (GRCm39)	D315G	probably benign	Het
Celsr2	A	T	3: 108,305,836 (GRCm39)	S2089R	probably damaging	Het
Chd9	A	C	8: 91,704,304 (GRCm39)	K247Q	probably damaging	Het
Chi3l1	A	C	1: 134,116,311 (GRCm39)	S263R	probably damaging	Het
Clec12b	A	C	6: 129,353,200 (GRCm39)	C262W	probably damaging	Het
Cpsf7	T	C	19: 10,503,372 (GRCm39)	M1T	probably null	Het
Cul3	T	C	1: 80,249,282 (GRCm39)	D597G	probably damaging	Het
Dcaf11	T	C	14: 55,802,964 (GRCm39)	V251A	possibly damaging	Het
Dennd2b	G	T	7: 109,156,633 (GRCm39)	P39Q	probably damaging	Het
Eno2	A	T	6: 124,740,774 (GRCm39)	F218I	probably damaging	Het
Frmd6	A	T	12: 70,946,218 (GRCm39)	R549*	probably null	Het
Fyb2	G	A	4: 104,852,895 (GRCm39)	S461N	possibly damaging	Het
Gm5709	A	T	3: 59,514,164 (GRCm39)		noncoding transcript	Het
Hormad1	T	C	3: 95,482,910 (GRCm39)	I132T	probably benign	Het
Itga7	G	T	10: 128,789,400 (GRCm39)	R981L	probably damaging	Het
Itgbl1	T	A	14: 124,065,306 (GRCm39)	N153K	probably damaging	Het
Itih1	T	C	14: 30,655,317 (GRCm39)	E626G	possibly damaging	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,712,417 (GRCm39)		probably benign	Het
Kcna2	A	T	3: 107,012,717 (GRCm39)	T433S	probably benign	Het
Map4k5	A	G	12: 69,859,927 (GRCm39)	V673A	probably damaging	Het
Mmp27	T	A	9: 7,577,651 (GRCm39)	V281E	probably benign	Het
Nr2c1	A	T	10: 94,026,600 (GRCm39)	I492F	probably damaging	Het
Or2ag19	A	T	7: 106,443,856 (GRCm39)	I13F	probably benign	Het
Or2r3	C	T	6: 42,448,708 (GRCm39)	V135M	possibly damaging	Het
Or2y3	A	G	17: 38,393,824 (GRCm39)	I15T	probably benign	Het
Or7d10	G	C	9: 19,831,796 (GRCm39)	C97S	probably damaging	Het
Or7e170	T	C	9: 19,795,248 (GRCm39)	M118V	probably benign	Het
Or8b47	T	A	9: 38,435,322 (GRCm39)	M98K	probably damaging	Het
Pank3	T	C	11: 35,669,477 (GRCm39)	M237T	probably damaging	Het
Plekhh1	A	G	12: 79,125,767 (GRCm39)	T1268A	probably benign	Het
Ptchd4	A	G	17: 42,813,467 (GRCm39)	Y456C	probably damaging	Het
Rhcg	C	T	7: 79,249,477 (GRCm39)	V310M	probably damaging	Het
Ryr1	A	T	7: 28,799,614 (GRCm39)	D906E	probably damaging	Het
Sez6l	A	T	5: 112,621,288 (GRCm39)	L262Q	probably damaging	Het
Shprh	G	A	10: 11,062,591 (GRCm39)	V1233I	probably damaging	Het
Slc3a1	A	G	17: 85,344,635 (GRCm39)	E267G	possibly damaging	Het
Slc5a5	T	A	8: 71,336,519 (GRCm39)	T616S	probably benign	Het
Syne3	T	G	12: 104,927,769 (GRCm39)	E318A	probably benign	Het
Tecpr2	A	G	12: 110,862,662 (GRCm39)	T25A	probably benign	Het
Ubxn1	T	A	19: 8,852,561 (GRCm39)		probably null	Het
Unc5b	C	A	10: 60,608,362 (GRCm39)	R616L	possibly damaging	Het
Ush2a	A	G	1: 188,083,290 (GRCm39)	T278A	probably benign	Het
Utp14b	A	G	1: 78,642,716 (GRCm39)	T205A	probably damaging	Het
Vmn1r219	T	C	13: 23,347,623 (GRCm39)	S271P	possibly damaging	Het
Vmn2r76	C	T	7: 85,879,578 (GRCm39)	V241M	probably benign	Het
Zbtb24	G	A	10: 41,338,275 (GRCm39)	G429D	probably damaging	Het
Zdhhc2	T	C	8: 40,900,139 (GRCm39)	S68P	probably damaging	Het
Zfp719	G	A	7: 43,233,678 (GRCm39)	M32I	possibly damaging	Het
Zfp975	T	C	7: 42,311,950 (GRCm39)	N221S	probably benign	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
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'- CATGGTGACTGAGTTCCTCCTGGA -3'
(R):5'- AGTAGGGAAGCCAGTGTCATCTGAA -3'

Sequencing Primer
(F):5'- AGTTCCTCCTGGAGGTTTTTGC -3'
(R):5'- TTGGTGGGTCATAATCACAGGATAC -3'

Posted On

2013-07-30