Mutagenetix > Incidental Mutation

Incidental Mutation 'R6950:Or4a78'

541195

Institutional Source

Beutler Lab

Gene Symbol

Or4a78

Ensembl Gene

ENSMUSG00000111567

Gene Name

olfactory receptor family 4 subfamily A member 78

Synonyms

Olfr1251, GA_x6K02T2Q125-51109312-51108356, MOR231-15P, MOR231-24_p

MMRRC Submission

045062-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R6950 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89497272-89498228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89497895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 112 (I112F)

Ref Sequence

ENSEMBL: ENSMUSP00000150028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000214304] [ENSMUST00000214639] [ENSMUST00000214750]

AlphaFold

Q7TQZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000214304
AA Change: I112F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000214639
AA Change: I112F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000214750
AA Change: I112F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.4%

Validation Efficiency

98% (59/60)

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
Abcc1	T	A	16: 14,229,480 (GRCm39)	V404D	probably damaging	Het
Adcy2	A	G	13: 69,036,184 (GRCm39)	M159T	possibly damaging	Het
Agtpbp1	T	C	13: 59,598,080 (GRCm39)	K674R	probably benign	Het
Atxn7	C	A	14: 14,095,511 (GRCm38)	P403H	probably damaging	Het
Cav3	C	T	6: 112,449,171 (GRCm39)	T63I	probably damaging	Het
Ccr6	T	C	17: 8,475,898 (GRCm39)	*368Q	probably null	Het
Cdh8	A	T	8: 99,757,395 (GRCm39)	N734K	probably benign	Het
Ces5a	G	T	8: 94,257,402 (GRCm39)	N134K	probably benign	Het
Cisd3	T	G	11: 97,576,986 (GRCm39)		probably null	Het
Cyp4f39	T	G	17: 32,711,280 (GRCm39)	C476G	probably damaging	Het
Dffb	A	T	4: 154,054,549 (GRCm39)	M180K	probably benign	Het
Dock4	A	G	12: 40,783,313 (GRCm39)	E749G	possibly damaging	Het
Eogt	A	G	6: 97,111,343 (GRCm39)	F173L	possibly damaging	Het
Ephb1	T	A	9: 102,072,108 (GRCm39)	T224S	probably benign	Het
Fam114a1	A	T	5: 65,137,322 (GRCm39)	E88D	possibly damaging	Het
Fbn2	A	C	18: 58,168,993 (GRCm39)	M2262R	probably null	Het
Fsip2	A	G	2: 82,816,332 (GRCm39)	I4022V	probably benign	Het
Gapvd1	A	G	2: 34,574,257 (GRCm39)	V1301A	probably benign	Het
Gch1	A	T	14: 47,426,723 (GRCm39)	M1K	probably null	Het
Hes1	T	C	16: 29,886,089 (GRCm39)	F231S	probably damaging	Het
Hoxb2	A	G	11: 96,242,727 (GRCm39)	T31A	probably benign	Het
Ifngr1	T	A	10: 19,483,041 (GRCm39)	V265D	probably damaging	Het
Ifnl3	A	T	7: 28,222,432 (GRCm39)	I58F	probably benign	Het
Igf2r	T	C	17: 12,937,605 (GRCm39)	T561A	probably benign	Het
Igfbpl1	T	A	4: 45,815,494 (GRCm39)	H214L	probably damaging	Het
Irf8	A	G	8: 121,481,864 (GRCm39)	T318A	probably benign	Het
Kmt2d	T	C	15: 98,737,901 (GRCm39)		probably benign	Het
Lratd2	T	C	15: 60,695,563 (GRCm39)	D61G	probably benign	Het
Lrrc36	G	T	8: 106,152,021 (GRCm39)		probably null	Het
Msl2	C	T	9: 100,979,174 (GRCm39)	P516L	possibly damaging	Het
Naaladl1	A	T	19: 6,156,011 (GRCm39)	I62F	probably damaging	Het
Neto2	G	T	8: 86,397,072 (GRCm39)	P60Q	probably damaging	Het
Nipsnap3b	A	T	4: 53,015,136 (GRCm39)	H61L	possibly damaging	Het
Npb	T	C	11: 120,499,473 (GRCm39)	F47L	probably benign	Het
Nutm1	T	A	2: 112,078,904 (GRCm39)	T1004S	probably benign	Het
Or4z4	A	G	19: 12,076,754 (GRCm39)	V83A	probably benign	Het
Or8c17	A	T	9: 38,179,842 (GRCm39)	N3I	probably damaging	Het
Oxr1	C	A	15: 41,683,951 (GRCm39)	A439E	probably benign	Het
Phf14	A	T	6: 12,006,854 (GRCm39)	K835N	probably damaging	Het
Prkdc	T	A	16: 15,633,850 (GRCm39)	V3518E	probably damaging	Het
Ptpru	T	A	4: 131,503,663 (GRCm39)	E1132D	probably damaging	Het
Rapgef6	T	A	11: 54,567,206 (GRCm39)	M1129K	probably benign	Het
Rgmb	T	C	17: 16,028,048 (GRCm39)	K224E	probably damaging	Het
Ryr3	T	C	2: 112,517,170 (GRCm39)	I3318V	possibly damaging	Het
Slc9a4	A	G	1: 40,642,045 (GRCm39)	Y338C	probably damaging	Het
Smg5	T	C	3: 88,256,576 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,693,514 (GRCm39)	Y1789*	probably null	Het
Tgm7	T	C	2: 120,924,128 (GRCm39)	E598G	probably damaging	Het
Tiam1	C	T	16: 89,657,092 (GRCm39)		probably null	Het
Tmem175	A	G	5: 108,790,948 (GRCm39)	N166S	probably benign	Het
Trp73	G	T	4: 154,146,510 (GRCm39)	N368K	probably benign	Het
Trpc3	C	T	3: 36,692,739 (GRCm39)	R751H	probably damaging	Het
Trpm4	C	A	7: 44,968,704 (GRCm39)	A410S	probably damaging	Het
Ube2t	T	G	1: 134,899,095 (GRCm39)		probably null	Het
Vmn2r114	C	T	17: 23,529,137 (GRCm39)	A322T	probably benign	Het
Xylt2	C	T	11: 94,558,455 (GRCm39)	R567H	probably benign	Het
Zfp119b	T	C	17: 56,246,137 (GRCm39)	K318E	probably damaging	Het
Zfp626	T	G	7: 27,518,339 (GRCm39)	L440R	probably damaging	Het
Zfp850	A	G	7: 27,689,939 (GRCm39)	S90P	possibly damaging	Het

Other mutations in Or4a78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Or4a78	APN	2	89,497,348 (GRCm39)	missense	probably benign	0.00
IGL01941:Or4a78	APN	2	89,497,812 (GRCm39)	nonsense	probably null	0.00
IGL01988:Or4a78	APN	2	89,497,424 (GRCm39)	missense	probably benign	0.07
IGL02388:Or4a78	APN	2	89,497,316 (GRCm39)	missense	probably benign	0.00
IGL03169:Or4a78	APN	2	89,497,831 (GRCm39)	missense	possibly damaging	0.86
R0008:Or4a78	UTSW	2	89,497,428 (GRCm39)	missense	probably damaging	1.00
R0042:Or4a78	UTSW	2	89,497,798 (GRCm39)	missense	probably benign	0.01
R0834:Or4a78	UTSW	2	89,497,423 (GRCm39)	missense	probably benign	0.24
R1102:Or4a78	UTSW	2	89,497,814 (GRCm39)	missense	probably damaging	0.98
R2213:Or4a78	UTSW	2	89,497,891 (GRCm39)	missense	probably damaging	1.00
R2219:Or4a78	UTSW	2	89,498,211 (GRCm39)	missense	possibly damaging	0.73
R3023:Or4a78	UTSW	2	89,497,990 (GRCm39)	missense	possibly damaging	0.86
R3105:Or4a78	UTSW	2	89,497,302 (GRCm39)	missense	probably benign	0.01
R3433:Or4a78	UTSW	2	89,497,577 (GRCm39)	missense	probably benign	0.01
R3508:Or4a78	UTSW	2	89,497,816 (GRCm39)	missense	probably benign	0.14
R3758:Or4a78	UTSW	2	89,497,916 (GRCm39)	missense	probably benign	0.14
R3909:Or4a78	UTSW	2	89,497,357 (GRCm39)	missense	probably damaging	0.98
R4049:Or4a78	UTSW	2	89,498,006 (GRCm39)	missense	probably benign	0.03
R4457:Or4a78	UTSW	2	89,497,427 (GRCm39)	missense	probably benign	0.24
R5613:Or4a78	UTSW	2	89,497,388 (GRCm39)	missense	probably damaging	1.00
R5748:Or4a78	UTSW	2	89,498,146 (GRCm39)	missense	possibly damaging	0.67
R6226:Or4a78	UTSW	2	89,497,333 (GRCm39)	missense	probably damaging	1.00
R9129:Or4a78	UTSW	2	89,497,930 (GRCm39)	missense	probably damaging	1.00
R9792:Or4a78	UTSW	2	89,497,811 (GRCm39)	missense	probably benign	0.00
R9793:Or4a78	UTSW	2	89,497,811 (GRCm39)	missense	probably benign	0.00
R9795:Or4a78	UTSW	2	89,497,811 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCCAAAGTGGTCAATGATATTGG -3'
(R):5'- TAGGAACAGTGATTGCCAGC -3'

Sequencing Primer
(F):5'- TGGTCAATGATATTGGGACCAC -3'
(R):5'- ACAGTGATTGCCAGCCCCTC -3'

Posted On

2018-11-28