Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Olfr139'

44773

Institutional Source

Beutler Lab

Gene Symbol

Olfr139

Ensembl Gene

ENSMUSG00000047444

Gene Name

olfactory receptor 139

Synonyms

M5, GA_x6K02T2P1NL-4202012-4201065, MOR255-2

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74044033-74056551 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74045047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 76 (C76R)

Ref Sequence

ENSEMBL: ENSMUSP00000148999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050678] [ENSMUST00000206280] [ENSMUST00000214111]

AlphaFold

Q60891

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050678
AA Change: C76R

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049558
Gene: ENSMUSG00000047444
AA Change: C76R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.4e-56	PFAM
Pfam:7TM_GPCR_Srsx	38	276	5.3e-6	PFAM
Pfam:7tm_1	44	293	8.1e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206280
AA Change: C76R

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214111
AA Change: C76R

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	Het

Other mutations in Olfr139

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0276:Olfr139	UTSW	11	74045118	missense	probably damaging	1.00
R1560:Olfr139	UTSW	11	74044615	missense	probably damaging	1.00
R1570:Olfr139	UTSW	11	74044807	missense	possibly damaging	0.65
R1781:Olfr139	UTSW	11	74044960	missense	probably damaging	1.00
R2002:Olfr139	UTSW	11	74045039	missense	possibly damaging	0.49
R2857:Olfr139	UTSW	11	74044827	missense	possibly damaging	0.93
R2858:Olfr139	UTSW	11	74044827	missense	possibly damaging	0.93
R2859:Olfr139	UTSW	11	74044827	missense	possibly damaging	0.93
R3874:Olfr139	UTSW	11	74044699	missense	probably damaging	1.00
R5023:Olfr139	UTSW	11	74045055	missense	probably damaging	1.00
R5057:Olfr139	UTSW	11	74045055	missense	probably damaging	1.00
R5242:Olfr139	UTSW	11	74045022	missense	possibly damaging	0.89
R5495:Olfr139	UTSW	11	74044785	missense	probably damaging	1.00
R5655:Olfr139	UTSW	11	74044334	nonsense	probably null
R7220:Olfr139	UTSW	11	74044763	missense	possibly damaging	0.63
R7343:Olfr139	UTSW	11	74044900	missense	possibly damaging	0.68
R7793:Olfr139	UTSW	11	74044788	missense	possibly damaging	0.89
R8169:Olfr139	UTSW	11	74044881	missense	possibly damaging	0.95
R8262:Olfr139	UTSW	11	74045100	missense	probably damaging	1.00
R8340:Olfr139	UTSW	11	74045025	missense	probably damaging	0.96
R8948:Olfr139	UTSW	11	74044956	missense	possibly damaging	0.50
R8950:Olfr139	UTSW	11	74044956	missense	possibly damaging	0.50
R9046:Olfr139	UTSW	11	74044458	missense	probably damaging	1.00
R9202:Olfr139	UTSW	11	74044615	missense	probably damaging	1.00
R9575:Olfr139	UTSW	11	74045014	missense	probably benign	0.01
R9587:Olfr139	UTSW	11	74044534	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCACATTAGGGCCACAGAAATC -3'
(R):5'- TGTTCTGCACATACCATACCAGCAC -3'

Sequencing Primer
(F):5'- AGACACTGCCACTGTGTGAG -3'
(R):5'- CAGCACCATGTAGATGCTGATTG -3'

Posted On

2013-06-11