Mutagenetix > Incidental Mutation

Incidental Mutation 'R7373:Or51a39'

572217

Institutional Source

Beutler Lab

Gene Symbol

Or51a39

Ensembl Gene

ENSMUSG00000066273

Gene Name

olfactory receptor family 51 subfamily A member 39

Synonyms

MTPCR33, MOR11-2, GA_x6K02T2PBJ9-5431102-5430146, Olfr33

MMRRC Submission

045456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R7373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102362662-102363618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102363306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 105 (I105F)

Ref Sequence

ENSEMBL: ENSMUSP00000149588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084817] [ENSMUST00000094124] [ENSMUST00000216312]

AlphaFold

Q8VGX7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084817
AA Change: I105F

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081877
Gene: ENSMUSG00000066273
AA Change: I105F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	317	2.1e-117	PFAM
Pfam:7TM_GPCR_Srsx	41	211	7.5e-11	PFAM
Pfam:7tm_1	47	299	2.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094124

SMART Domains

Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	6.2e-117	PFAM
Pfam:7TM_GPCR_Srsx	37	308	2.4e-7	PFAM
Pfam:7tm_1	43	293	2.4e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216312
AA Change: I105F

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	G	A	11: 50,686,262 (GRCm39)	A1027T	probably benign	Het
Aldh7a1	G	A	18: 56,675,389 (GRCm39)	T260M	possibly damaging	Het
Anks3	T	C	16: 4,773,735 (GRCm39)	Y187C	probably benign	Het
Atp2c2	A	T	8: 120,456,991 (GRCm39)	I198F	probably benign	Het
Bsn	T	C	9: 107,990,683 (GRCm39)	T1690A	probably damaging	Het
Catsper3	T	C	13: 55,955,945 (GRCm39)	I350T	possibly damaging	Het
Cdcp1	C	T	9: 123,006,965 (GRCm39)	R594H	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cldn1	G	T	16: 26,179,606 (GRCm39)	P154T	probably damaging	Het
Cntnap5a	A	T	1: 116,508,367 (GRCm39)	N1293I	probably benign	Het
Cpsf4l	C	T	11: 113,590,657 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,880,136 (GRCm39)	T351A	probably benign	Het
Csmd1	T	C	8: 16,042,713 (GRCm39)	N2340S	probably damaging	Het
Dennd4a	C	A	9: 64,804,551 (GRCm39)	Q1297K	probably benign	Het
Dll3	A	G	7: 27,994,057 (GRCm39)	V460A	probably benign	Het
Dnah8	T	C	17: 30,986,939 (GRCm39)		probably null	Het
Dst	G	T	1: 34,227,472 (GRCm39)	L1688F	probably benign	Het
Ehmt1	A	G	2: 24,809,585 (GRCm39)	M1T	probably null	Het
Fasn	A	T	11: 120,704,802 (GRCm39)	L1261Q	possibly damaging	Het
Fat1	A	G	8: 45,479,702 (GRCm39)	D2916G	probably damaging	Het
Fgfr3	C	A	5: 33,885,034 (GRCm39)	F49L	probably benign	Het
Hlx	T	C	1: 184,463,062 (GRCm39)	T197A	probably benign	Het
Hormad1	A	T	3: 95,483,628 (GRCm39)	T147S	probably damaging	Het
Igf1r	T	A	7: 67,844,826 (GRCm39)	Y866*	probably null	Het
Itgb8	A	G	12: 119,166,210 (GRCm39)	V107A	probably benign	Het
Kat2a	C	T	11: 100,599,392 (GRCm39)	A533T	probably benign	Het
Kif20b	T	C	19: 34,913,071 (GRCm39)	L328P	probably damaging	Het
Lims1	T	C	10: 58,245,442 (GRCm39)	F157S	probably damaging	Het
Lrp2	G	T	2: 69,331,036 (GRCm39)	H1673Q	probably damaging	Het
Lrrc46	C	A	11: 96,929,706 (GRCm39)	M43I	probably benign	Het
Lrrk2	T	C	15: 91,584,207 (GRCm39)		probably null	Het
Meox2	A	T	12: 37,158,797 (GRCm39)		probably benign	Het
Mff	A	G	1: 82,714,838 (GRCm39)		probably null	Het
Mfsd5	T	A	15: 102,189,427 (GRCm39)	F266L	probably damaging	Het
Miga2	A	G	2: 30,272,083 (GRCm39)	T468A	probably damaging	Het
Mmel1	T	A	4: 154,973,665 (GRCm39)	L316Q	not run	Het
Ndufa9	C	A	6: 126,811,421 (GRCm39)	G232C	probably damaging	Het
Obox2	A	T	7: 15,131,145 (GRCm39)	K84*	probably null	Het
Or4f58	T	A	2: 111,851,787 (GRCm39)	R137S	probably benign	Het
Otogl	G	T	10: 107,737,112 (GRCm39)	Q101K	probably damaging	Het
Pcnx2	C	T	8: 126,534,766 (GRCm39)	V1288M	probably damaging	Het
Pde10a	T	A	17: 9,161,824 (GRCm39)	W220R	probably benign	Het
Recql5	T	C	11: 115,819,198 (GRCm39)	T123A	possibly damaging	Het
Rpl28	T	C	7: 4,796,602 (GRCm39)	V61A	probably benign	Het
Secisbp2l	A	T	2: 125,599,191 (GRCm39)	M494K	probably damaging	Het
Sh3bgr	G	A	16: 96,007,035 (GRCm39)	E2K	unknown	Het
Shcbp1l	C	A	1: 153,300,986 (GRCm39)	T6K	probably benign	Het
Slc22a15	A	C	3: 101,785,213 (GRCm39)	L353R	possibly damaging	Het
Sqle	T	C	15: 59,189,658 (GRCm39)	I100T	probably benign	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tll1	A	T	8: 64,504,391 (GRCm39)	N668K	probably damaging	Het
Tm7sf2	A	G	19: 6,116,676 (GRCm39)	S118P	probably benign	Het
Tmco5	G	T	2: 116,717,226 (GRCm39)	V169L	probably benign	Het
Trpv1	A	G	11: 73,131,499 (GRCm39)	K346E	probably damaging	Het
Ttk	G	A	9: 83,736,930 (GRCm39)	R463H	probably benign	Het
Vmn2r120	G	T	17: 57,816,406 (GRCm39)	L650I	probably benign	Het
Vmn2r58	C	T	7: 41,487,212 (GRCm39)	C561Y	probably damaging	Het
Vmn2r-ps117	A	T	17: 19,044,948 (GRCm39)	Q455L	probably benign	Het
Zfr	T	A	15: 12,140,645 (GRCm39)	S231T	unknown	Het

Other mutations in Or51a39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02064:Or51a39	APN	7	102,362,808 (GRCm39)	missense	probably damaging	1.00
IGL02349:Or51a39	APN	7	102,363,333 (GRCm39)	missense	probably damaging	0.99
IGL02739:Or51a39	APN	7	102,363,521 (GRCm39)	missense	possibly damaging	0.58
IGL03110:Or51a39	APN	7	102,363,090 (GRCm39)	missense	probably damaging	1.00
IGL03014:Or51a39	UTSW	7	102,362,753 (GRCm39)	missense	probably null	0.91
R0158:Or51a39	UTSW	7	102,363,162 (GRCm39)	missense	probably benign	0.03
R1455:Or51a39	UTSW	7	102,363,205 (GRCm39)	nonsense	probably null
R1996:Or51a39	UTSW	7	102,362,999 (GRCm39)	missense	probably damaging	1.00
R2032:Or51a39	UTSW	7	102,363,083 (GRCm39)	missense	probably benign	0.00
R2152:Or51a39	UTSW	7	102,362,788 (GRCm39)	missense	probably benign	0.01
R4852:Or51a39	UTSW	7	102,362,750 (GRCm39)	missense	probably damaging	0.99
R4965:Or51a39	UTSW	7	102,362,702 (GRCm39)	missense	probably damaging	1.00
R5264:Or51a39	UTSW	7	102,363,558 (GRCm39)	missense	probably benign	0.00
R5464:Or51a39	UTSW	7	102,362,889 (GRCm39)	missense	probably benign
R6680:Or51a39	UTSW	7	102,363,522 (GRCm39)	missense	possibly damaging	0.70
R7195:Or51a39	UTSW	7	102,362,873 (GRCm39)	missense	possibly damaging	0.74
R7391:Or51a39	UTSW	7	102,363,189 (GRCm39)	missense	probably benign	0.02
R7872:Or51a39	UTSW	7	102,363,389 (GRCm39)	missense	probably benign	0.01
R7948:Or51a39	UTSW	7	102,362,895 (GRCm39)	missense	probably benign	0.00
R8097:Or51a39	UTSW	7	102,363,197 (GRCm39)	missense	possibly damaging	0.53
R8969:Or51a39	UTSW	7	102,363,558 (GRCm39)	missense	probably benign	0.00
R9349:Or51a39	UTSW	7	102,362,875 (GRCm39)	nonsense	probably null
R9589:Or51a39	UTSW	7	102,363,372 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGTAGTTCAGCCTCTTCAG -3'
(R):5'- CTGTGGCACTCACTGGAAAC -3'

Sequencing Primer
(F):5'- CAATGGTAAGAGGGACAAAGTAGCTC -3'
(R):5'- GGAAACTGCCTCATCCTCCTGG -3'

Posted On

2019-09-13