Mutagenetix > Incidental Mutation

Incidental Mutation 'R9795:Or4a78'

734862

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

Accession Numbers

Essential gene?

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

Stock #

R9795 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89497272-89498228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89497811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 140 (I140V)

Ref Sequence

ENSEMBL: ENSMUSP00000149873 (fasta)

Gene Model

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

AlphaFold

Q7TQZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000214304
AA Change: I140V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000214639
AA Change: I140V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000214750
AA Change: I140V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	C	T	15: 94,301,180 (GRCm39)	G115R	possibly damaging	Het
Adgrl3	T	C	5: 81,837,421 (GRCm39)	V701A	probably damaging	Het
Afap1l1	T	C	18: 61,874,822 (GRCm39)	D453G	possibly damaging	Het
Ano1	A	T	7: 144,175,434 (GRCm39)	W495R	probably damaging	Het
Apc	T	A	18: 34,447,628 (GRCm39)	L1508Q	probably damaging	Het
Bbs12	C	T	3: 37,374,224 (GRCm39)	T224I	possibly damaging	Het
Cald1	A	T	6: 34,723,071 (GRCm39)	M52L		Het
Calhm6	T	C	10: 34,002,544 (GRCm39)	I180V	probably damaging	Het
Ccdc9b	T	C	2: 118,587,784 (GRCm39)	S517G	unknown	Het
Cdk12	T	A	11: 98,102,051 (GRCm39)	D636E	unknown	Het
Cfap53	A	G	18: 74,438,741 (GRCm39)	D306G	probably benign	Het
Cntnap4	T	C	8: 113,608,357 (GRCm39)	V1259A	probably benign	Het
Cntnap5c	A	T	17: 58,409,192 (GRCm39)	T477S	probably benign	Het
Epha3	T	C	16: 63,372,910 (GRCm39)	E931G	probably benign	Het
Foxred1	CGGG	CGG	9: 35,122,152 (GRCm39)		probably null	Het
Gstt1	T	C	10: 75,634,391 (GRCm39)		probably benign	Het
Hao1	T	A	2: 134,372,552 (GRCm39)	Y152F	possibly damaging	Het
Hcn4	C	T	9: 58,760,762 (GRCm39)	Q436*	probably null	Het
Hmcn1	G	A	1: 150,608,689 (GRCm39)	P1498S	possibly damaging	Het
Igkv4-79	A	G	6: 69,020,169 (GRCm39)	S49P	probably damaging	Het
Krt73	C	A	15: 101,710,725 (GRCm39)	R3L	probably damaging	Het
Lrriq3	T	C	3: 154,893,313 (GRCm39)	M338T	probably benign	Het
Ltbp2	A	T	12: 84,876,128 (GRCm39)	I493N	probably damaging	Het
Ly6e	G	T	15: 74,830,390 (GRCm39)	C80F	probably damaging	Het
Map1a	T	C	2: 121,121,304 (GRCm39)		probably null	Het
Mitf	A	G	6: 97,970,143 (GRCm39)	H137R	probably benign	Het
Nr1h4	T	G	10: 89,314,651 (GRCm39)	T286P	probably benign	Het
Nsd2	A	G	5: 34,003,489 (GRCm39)	D213G	possibly damaging	Het
Nuggc	T	C	14: 65,847,345 (GRCm39)	S131P	probably damaging	Het
Nwd2	A	G	5: 63,964,232 (GRCm39)	E1272G	probably damaging	Het
Or2y1	A	T	11: 49,385,882 (GRCm39)	N174I	probably damaging	Het
Or4f14c	T	C	2: 111,941,330 (GRCm39)	H89R	probably benign	Het
Or5ac17	T	A	16: 59,036,938 (GRCm39)	I13F	possibly damaging	Het
Or5p79	A	G	7: 108,221,869 (GRCm39)	I283M	probably benign	Het
Or7e170	T	A	9: 19,795,347 (GRCm39)	M85L	probably benign	Het
Or7g32	T	C	9: 19,408,412 (GRCm39)	Y123H	probably damaging	Het
Or8h9	T	A	2: 86,789,119 (GRCm39)	I228F	probably damaging	Het
Pacsin3	C	A	2: 91,094,160 (GRCm39)	A363D	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Pkhd1l1	T	C	15: 44,406,983 (GRCm39)	S2407P	probably benign	Het
Ppip5k2	A	T	1: 97,671,822 (GRCm39)	Y489*	probably null	Het
Qrich1	T	A	9: 108,411,089 (GRCm39)	S205T	probably benign	Het
Rasgrp1	T	C	2: 117,118,429 (GRCm39)	D520G	probably benign	Het
Rbm20	C	A	19: 53,852,551 (GRCm39)	T1177K	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sel1l3	C	A	5: 53,329,924 (GRCm39)	R477L	probably benign	Het
Slc27a3	C	T	3: 90,296,875 (GRCm39)	W32*	probably null	Het
Slc5a8	T	C	10: 88,757,591 (GRCm39)	I527T	possibly damaging	Het
Slc6a7	C	A	18: 61,138,866 (GRCm39)	R214L	probably benign	Het
Stx7	T	C	10: 24,057,475 (GRCm39)	L167P	probably damaging	Het
Sult1d1	T	A	5: 87,712,655 (GRCm39)	N63I	probably damaging	Het
Ttc23l	T	A	15: 10,537,731 (GRCm39)	I180F	probably benign	Het
Usp31	A	G	7: 121,247,499 (GRCm39)	S1315P	probably benign	Het
Usp9y	T	C	Y: 1,364,679 (GRCm39)	M1045V	probably benign	Het
Vmn2r118	T	C	17: 55,899,496 (GRCm39)	T803A	probably damaging	Het
Vmn2r97	T	A	17: 19,167,561 (GRCm39)	V605D	probably damaging	Het
Wdr26	A	G	1: 181,036,812 (GRCm39)	F143S	probably damaging	Het
Zfp51	T	G	17: 21,682,051 (GRCm39)		probably null	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
R6950:Or4a78	UTSW	2	89,497,895 (GRCm39)	missense	probably benign	0.07
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

Predicted Primers

PCR Primer
(F):5'- CATTATTGCCAATGACAGAAAGACC -3'
(R):5'- GGATGCTGTTTATTCCACTGCC -3'

Sequencing Primer
(F):5'- CCAATGAAATAGGTATCAGTACATGC -3'
(R):5'- CACCCAAGTTGATTGTAGACTTGC -3'

Posted On

2022-11-14