Mutagenetix > Incidental Mutation

Incidental Mutation 'R9129:Or4a78'

693448

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 #

R9129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89497272-89498228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89497930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 100 (F100S)

Ref Sequence

ENSEMBL: ENSMUSP00000149873 (fasta)

Gene Model

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

AlphaFold

Q7TQZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000214304
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214639
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214750
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,523,223 (GRCm39)	S1238P	probably damaging	Het
Akap9	T	C	5: 4,119,089 (GRCm39)	L3532S	probably benign	Het
Ankfn1	A	G	11: 89,312,042 (GRCm39)	L701P		Het
Aph1b	A	C	9: 66,686,595 (GRCm39)	I225S	probably benign	Het
Asic4	A	T	1: 75,446,469 (GRCm39)	H337L	possibly damaging	Het
Atp8b3	T	C	10: 80,368,412 (GRCm39)	E187G	probably damaging	Het
Atp9a	A	G	2: 168,517,205 (GRCm39)	M376T	probably benign	Het
Bod1l	G	T	5: 41,976,220 (GRCm39)	T1698K	probably damaging	Het
Cacna2d4	T	C	6: 119,313,415 (GRCm39)		probably null	Het
Catsper1	C	A	19: 5,390,402 (GRCm39)		probably benign	Het
Cd248	T	C	19: 5,120,140 (GRCm39)	S663P	probably benign	Het
Crispld2	A	T	8: 120,737,488 (GRCm39)	M80L	possibly damaging	Het
Cwc22	G	A	2: 77,726,659 (GRCm39)	Q807*	probably null	Het
Cyp2a4	T	C	7: 26,014,136 (GRCm39)	Y438H	probably benign	Het
Cyp2b23	A	T	7: 26,381,189 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,377,126 (GRCm39)	V1637D	probably benign	Het
Elovl1	A	T	4: 118,289,156 (GRCm39)	Y227F	possibly damaging	Het
Ern1	T	C	11: 106,300,946 (GRCm39)	K483E	probably benign	Het
Fzd2	T	C	11: 102,496,465 (GRCm39)	F303S	probably benign	Het
Gm9944	A	T	4: 144,179,763 (GRCm39)	V42D	unknown	Het
Grik5	G	A	7: 24,767,429 (GRCm39)		probably benign	Het
Hdac4	T	C	1: 91,909,929 (GRCm39)	D445G	probably benign	Het
Hinfp	C	T	9: 44,209,062 (GRCm39)	R352H	probably damaging	Het
Hrnr	A	G	3: 93,231,277 (GRCm39)	H505R	unknown	Het
Hsfy2	C	T	1: 56,675,752 (GRCm39)	D262N	probably benign	Het
Hspa4	G	A	11: 53,174,463 (GRCm39)	Q186*	probably null	Het
Ipo8	T	C	6: 148,700,125 (GRCm39)	H584R	probably benign	Het
Krtap8-1	T	A	16: 89,284,636 (GRCm39)	R54*	probably null	Het
Lama4	T	A	10: 38,932,887 (GRCm39)	Y588N	probably benign	Het
Lekr1	T	A	3: 65,591,426 (GRCm39)	Y54*	probably null	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Lypd10	A	G	7: 24,413,170 (GRCm39)	D163G	probably benign	Het
Lzts3	A	T	2: 130,476,865 (GRCm39)	Y528N	possibly damaging	Het
Mdn1	T	A	4: 32,676,812 (GRCm39)	V628E	probably benign	Het
Mgat5b	A	C	11: 116,859,348 (GRCm39)		probably benign	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mllt10	C	T	2: 18,167,404 (GRCm39)	S443L	probably benign	Het
Mtf1	G	A	4: 124,698,913 (GRCm39)		probably benign	Het
Myom2	T	C	8: 15,154,068 (GRCm39)	F669L	probably damaging	Het
Nlrp9c	A	T	7: 26,077,428 (GRCm39)		probably null	Het
Nog	G	C	11: 89,192,602 (GRCm39)	S82W	probably damaging	Het
Ntrk2	A	G	13: 59,276,084 (GRCm39)	T795A	probably benign	Het
Or56a3b	G	A	7: 104,771,223 (GRCm39)	M186I	probably benign	Het
Or5m3	A	T	2: 85,838,356 (GRCm39)	M79L		Het
Or5w17	A	T	2: 87,584,048 (GRCm39)	F96L	probably benign	Het
Pira12	C	A	7: 3,898,500 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,064 (GRCm39)	I144L		Het
Rab11fip5	A	G	6: 85,317,892 (GRCm39)	V999A	probably benign	Het
Serpinb6b	TTGTTTCTGT	TTGT	13: 33,162,139 (GRCm39)		probably benign	Het
Shisa6	A	G	11: 66,110,853 (GRCm39)	M296T	probably benign	Het
Slc18a1	T	A	8: 69,491,533 (GRCm39)	T494S	probably benign	Het
Slc22a29	T	G	19: 8,146,669 (GRCm39)	I378L	probably benign	Het
Slc23a2	C	T	2: 131,920,332 (GRCm39)		probably null	Het
Slc2a7	G	T	4: 150,243,001 (GRCm39)	R274L	probably benign	Het
Spta1	A	G	1: 174,058,911 (GRCm39)	T1949A	possibly damaging	Het
Szt2	A	G	4: 118,221,866 (GRCm39)	V3339A	unknown	Het
Tcp10a	G	A	17: 7,593,935 (GRCm39)	D87N	probably benign	Het
Tgm5	T	G	2: 120,877,270 (GRCm39)	Q638P	probably damaging	Het
Tmem145	A	G	7: 25,014,265 (GRCm39)	T460A	possibly damaging	Het
Ttc3	A	T	16: 94,185,208 (GRCm39)	M50L	probably benign	Het
Ush1c	A	G	7: 45,854,629 (GRCm39)	S708P	probably benign	Het
Vmn1r217	T	A	13: 23,298,876 (GRCm39)	T9S	probably benign	Het
Vmn1r26	T	C	6: 57,985,373 (GRCm39)	Y272C		Het
Vmn1r75	G	T	7: 11,614,513 (GRCm39)	A82S	probably benign	Het
Vmn2r117	T	A	17: 23,678,918 (GRCm39)	R769*	probably null	Het
Vps13b	C	A	15: 35,448,793 (GRCm39)	A589E	probably damaging	Het
Vps13d	G	A	4: 144,898,249 (GRCm39)	R304W		Het
Vps41	A	G	13: 19,011,775 (GRCm39)	E294G	probably benign	Het
Xpo7	T	C	14: 70,909,113 (GRCm39)	T802A	probably benign	Het
Ylpm1	T	A	12: 85,104,052 (GRCm39)	D2022E		Het
Zfp433	T	A	10: 81,555,724 (GRCm39)	C75*	probably null	Het
Zyg11a	A	T	4: 108,039,009 (GRCm39)	S737T	probably benign	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
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'- GGTCAATGATATTGGGACCACAG -3'
(R):5'- CTGCTCATCGTAGGAACAGTG -3'

Sequencing Primer
(F):5'- TCAATGATATTGGGACCACAGAATGG -3'
(R):5'- CTCATCGTAGGAACAGTGATTGCC -3'

Posted On

2022-01-20