Mutagenetix > Incidental Mutation

Incidental Mutation 'R9559:Or5ac24'

720935

Institutional Source

Beutler Lab

Gene Symbol

Or5ac24

Ensembl Gene

ENSMUSG00000066257

Gene Name

olfactory receptor family 5 subfamily AC member 24

Synonyms

MOR182-4, GA_x54KRFPKG5P-55560552-55559632, Olfr206

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R9559 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59165085-59166089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59165368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 232 (G232V)

Ref Sequence

ENSEMBL: ENSMUSP00000146906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084791] [ENSMUST00000207927]

AlphaFold

Q8VGP9

Predicted Effect

probably damaging
Transcript: ENSMUST00000084791
AA Change: G232V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081849
Gene: ENSMUSG00000066257
AA Change: G232V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	6.2e-48	PFAM
Pfam:7TM_GPCR_Srsx	34	295	2.6e-5	PFAM
Pfam:7tm_1	40	289	3.7e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207927
AA Change: G232V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,021,019 (GRCm39)		probably null	Het
Ahnak2	C	T	12: 112,749,782 (GRCm39)		probably null	Het
Arhgef37	A	T	18: 61,640,267 (GRCm39)		probably null	Het
Asb14	T	C	14: 26,637,052 (GRCm39)	V598A	possibly damaging	Het
Baz1b	T	A	5: 135,216,532 (GRCm39)	F10Y	probably benign	Het
Bbc3	T	C	7: 16,047,660 (GRCm39)	V128A	probably benign	Het
C130073F10Rik	T	A	4: 101,747,946 (GRCm39)	Y76F	possibly damaging	Het
Cdc42bpa	G	A	1: 179,939,459 (GRCm39)		probably null	Het
Cfh	G	T	1: 140,030,275 (GRCm39)	P884Q	probably benign	Het
Cltc	T	C	11: 86,613,086 (GRCm39)	Y479C	probably damaging	Het
Col18a1	C	T	10: 76,913,630 (GRCm39)	G477E	probably damaging	Het
Col7a1	A	G	9: 108,786,360 (GRCm39)	N530S	unknown	Het
Csmd2	G	T	4: 128,438,561 (GRCm39)	G3047C		Het
Cyb5r3	C	A	15: 83,043,123 (GRCm39)	E190*	probably null	Het
Dnah3	A	T	7: 119,650,951 (GRCm39)	V983D	probably benign	Het
Fcer1a	T	G	1: 173,052,884 (GRCm39)	Y104S	possibly damaging	Het
Fer1l6	A	G	15: 58,429,759 (GRCm39)	T169A	possibly damaging	Het
Gimap9	A	T	6: 48,655,134 (GRCm39)	K240N	probably benign	Het
Gmeb1	A	C	4: 131,953,140 (GRCm39)	V542G	probably benign	Het
Grb10	C	A	11: 11,895,535 (GRCm39)	R318L	probably damaging	Het
Gucy1b1	T	A	3: 81,947,054 (GRCm39)	D385V	possibly damaging	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Il18r1	T	A	1: 40,528,793 (GRCm39)	I279K	probably benign	Het
Il21r	A	G	7: 125,232,027 (GRCm39)	D485G	probably damaging	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Kdm4b	T	C	17: 56,693,228 (GRCm39)	L355P	probably damaging	Het
Kif26a	C	T	12: 112,142,004 (GRCm39)	R753W	probably damaging	Het
Krtcap2	C	T	3: 89,154,178 (GRCm39)	T33I	probably damaging	Het
Mettl17	G	A	14: 52,129,009 (GRCm39)		probably null	Het
Mov10	A	G	3: 104,708,277 (GRCm39)	F491L		Het
Mterf1a	C	T	5: 3,941,807 (GRCm39)	W20*	probably null	Het
Nck2	T	C	1: 43,593,207 (GRCm39)	V138A	probably damaging	Het
Or2h2c	C	T	17: 37,422,509 (GRCm39)	V122M	possibly damaging	Het
Or5ak24	A	C	2: 85,260,753 (GRCm39)	V140G	possibly damaging	Het
Or7e173	A	G	9: 19,939,216 (GRCm39)	V6A	probably benign	Het
Osmr	A	G	15: 6,882,027 (GRCm39)	V39A	probably damaging	Het
Plekhh2	A	G	17: 84,899,017 (GRCm39)	H998R	probably damaging	Het
Prb1a	G	A	6: 132,184,388 (GRCm39)	S415F	unknown	Het
Prl3d1	C	T	13: 27,280,470 (GRCm39)	T73I	probably benign	Het
Scgn	A	G	13: 24,137,921 (GRCm39)	L250P	probably damaging	Het
Scyl3	T	C	1: 163,779,773 (GRCm39)	I580T	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Shank2	A	T	7: 143,585,041 (GRCm39)	Q14L	probably benign	Het
Slc22a12	T	A	19: 6,587,686 (GRCm39)	N423Y	probably damaging	Het
Tenm4	T	A	7: 96,473,056 (GRCm39)	S951T	probably benign	Het
Ubash3b	G	A	9: 40,954,926 (GRCm39)	P195S	probably damaging	Het
Vmn1r61	A	G	7: 5,613,498 (GRCm39)	F272S	probably damaging	Het
Zbtb41	A	T	1: 139,358,053 (GRCm39)	I454F	probably benign	Het
Zfp112	G	T	7: 23,826,108 (GRCm39)	C696F	probably damaging	Het

Other mutations in Or5ac24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01372:Or5ac24	APN	16	59,165,524 (GRCm39)	missense	probably damaging	0.97
IGL02106:Or5ac24	APN	16	59,165,387 (GRCm39)	missense	probably benign	0.00
IGL02839:Or5ac24	APN	16	59,165,753 (GRCm39)	missense	probably benign	0.01
IGL03010:Or5ac24	APN	16	59,165,135 (GRCm39)	utr 3 prime	probably benign
R1163:Or5ac24	UTSW	16	59,165,425 (GRCm39)	missense	probably damaging	0.99
R1507:Or5ac24	UTSW	16	59,165,856 (GRCm39)	missense	probably damaging	1.00
R1670:Or5ac24	UTSW	16	59,165,790 (GRCm39)	missense	possibly damaging	0.79
R2881:Or5ac24	UTSW	16	59,165,215 (GRCm39)	missense	probably damaging	1.00
R2925:Or5ac24	UTSW	16	59,165,706 (GRCm39)	nonsense	probably null
R4479:Or5ac24	UTSW	16	59,165,230 (GRCm39)	missense	probably damaging	0.99
R4891:Or5ac24	UTSW	16	59,165,834 (GRCm39)	missense	possibly damaging	0.87
R5085:Or5ac24	UTSW	16	59,165,449 (GRCm39)	missense	probably damaging	0.99
R5099:Or5ac24	UTSW	16	59,165,266 (GRCm39)	missense	probably benign	0.00
R5218:Or5ac24	UTSW	16	59,165,270 (GRCm39)	missense	probably benign
R6019:Or5ac24	UTSW	16	59,165,798 (GRCm39)	missense	possibly damaging	0.48
R6773:Or5ac24	UTSW	16	59,165,579 (GRCm39)	missense	probably damaging	1.00
R7068:Or5ac24	UTSW	16	59,165,567 (GRCm39)	missense	possibly damaging	0.94
R7173:Or5ac24	UTSW	16	59,165,510 (GRCm39)	missense	probably benign	0.00
R7192:Or5ac24	UTSW	16	59,165,542 (GRCm39)	missense	probably benign	0.44
R7485:Or5ac24	UTSW	16	59,165,687 (GRCm39)	missense	probably damaging	1.00
R9005:Or5ac24	UTSW	16	59,165,929 (GRCm39)	missense	probably damaging	0.99
R9065:Or5ac24	UTSW	16	59,165,530 (GRCm39)	missense	probably damaging	1.00
R9090:Or5ac24	UTSW	16	59,165,145 (GRCm39)	nonsense	probably null
R9202:Or5ac24	UTSW	16	59,165,618 (GRCm39)	missense	probably benign	0.00
R9271:Or5ac24	UTSW	16	59,165,145 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGCACCCAAAACTTCCTTG -3'
(R):5'- TGTCCAAAAGACTCTGCACTGTG -3'

Sequencing Primer
(F):5'- ACCCAAAACTTCCTTGTTTCTTAAG -3'
(R):5'- GACTCTGCACTGTGTTAATCAG -3'

Posted On

2022-08-09