Mutagenetix > Incidental Mutation

Incidental Mutation 'R1163:Or5ac24'

100712

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

039236-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1163 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59165085-59166089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59165425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 213 (I213N)

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: I213N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081849
Gene: ENSMUSG00000066257
AA Change: I213N

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: I213N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 86,957,284 (GRCm39)	Y7N	probably damaging	Het
4930579F01Rik	T	G	3: 137,882,271 (GRCm39)	D18A	probably damaging	Het
Abca8a	T	C	11: 109,962,356 (GRCm39)	D499G	probably benign	Het
Adamts1	G	C	16: 85,599,525 (GRCm39)	A25G	probably benign	Het
Adamts2	A	T	11: 50,670,541 (GRCm39)	I552F	probably damaging	Het
Akap3	A	G	6: 126,841,750 (GRCm39)	D123G	probably damaging	Het
Ankar	C	T	1: 72,727,864 (GRCm39)	V350I	possibly damaging	Het
Apob	A	G	12: 8,061,654 (GRCm39)	T3379A	probably damaging	Het
Ash1l	G	T	3: 88,942,570 (GRCm39)		probably null	Het
Atp2b1	T	C	10: 98,815,713 (GRCm39)	I119T	possibly damaging	Het
B3gnt2	A	T	11: 22,786,558 (GRCm39)	M210K	probably benign	Het
Bcl11a	A	G	11: 24,115,143 (GRCm39)	N829D	probably benign	Het
Btnl4	T	C	17: 34,689,049 (GRCm39)	E337G	possibly damaging	Het
Casr	A	T	16: 36,315,169 (GRCm39)	V967D	probably damaging	Het
Cd200	A	T	16: 45,212,715 (GRCm39)	V244D	probably damaging	Het
Cd200r4	A	G	16: 44,658,383 (GRCm39)	N256D	probably benign	Het
Cep68	A	G	11: 20,190,539 (GRCm39)	S158P	probably damaging	Het
Chst10	A	T	1: 38,910,783 (GRCm39)	V123D	probably damaging	Het
Cobll1	T	C	2: 64,928,623 (GRCm39)	H938R	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dmkn	T	G	7: 30,464,476 (GRCm39)	C205G	probably damaging	Het
Dock8	A	G	19: 25,028,867 (GRCm39)	I24V	probably benign	Het
Dpp3	C	T	19: 4,964,951 (GRCm39)	W488*	probably null	Het
Dpp9	C	A	17: 56,506,426 (GRCm39)	A365S	possibly damaging	Het
Egfr	A	T	11: 16,833,546 (GRCm39)	T605S	probably benign	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fam83g	T	C	11: 61,594,262 (GRCm39)	S599P	probably damaging	Het
Fscn1	G	T	5: 142,946,598 (GRCm39)	W132L	probably damaging	Het
Gbp2b	A	G	3: 142,304,857 (GRCm39)	T98A	probably damaging	Het
Gm4922	C	T	10: 18,659,469 (GRCm39)	A418T	possibly damaging	Het
Golgb1	G	T	16: 36,736,488 (GRCm39)	V1912L	possibly damaging	Het
Gon4l	T	C	3: 88,799,842 (GRCm39)	L829P	probably damaging	Het
Grm3	T	A	5: 9,620,738 (GRCm39)	I169L	probably benign	Het
Gsdma2	A	G	11: 98,541,684 (GRCm39)	D137G	probably damaging	Het
Hhip	T	C	8: 80,719,105 (GRCm39)	Y474C	probably damaging	Het
Hsph1	A	T	5: 149,554,266 (GRCm39)	V163E	probably damaging	Het
Ifi203	T	C	1: 173,751,703 (GRCm39)	K373E	probably damaging	Het
Itsn2	A	G	12: 4,762,009 (GRCm39)	T1540A	probably benign	Het
Kdm1b	T	C	13: 47,225,398 (GRCm39)	V527A	probably benign	Het
Kdm5d	G	A	Y: 898,029 (GRCm39)	A22T	probably benign	Het
Khdrbs1	A	T	4: 129,619,379 (GRCm39)	F254Y	possibly damaging	Het
Kif26a	T	C	12: 112,146,379 (GRCm39)	F1822L	probably benign	Het
Krt1	C	A	15: 101,756,600 (GRCm39)	E308*	probably null	Het
Lrrc47	T	A	4: 154,096,274 (GRCm39)	M1K	probably null	Het
Mrgpra4	A	T	7: 47,631,224 (GRCm39)	W126R	probably damaging	Het
Nlrp4e	G	A	7: 23,020,397 (GRCm39)	V295I	probably benign	Het
Or1l4b	A	T	2: 37,037,039 (GRCm39)	T272S	probably damaging	Het
Or2f1	G	A	6: 42,721,057 (GRCm39)	V29I	probably benign	Het
Or4c10	G	T	2: 89,760,449 (GRCm39)	V99F	possibly damaging	Het
Or5ac19	A	G	16: 59,089,518 (GRCm39)	S171P	probably benign	Het
Or5b96	T	A	19: 12,867,513 (GRCm39)	T143S	probably benign	Het
Or6c66	A	G	10: 129,461,516 (GRCm39)	V138A	possibly damaging	Het
Or8h10	A	G	2: 86,809,020 (GRCm39)	L40P	probably damaging	Het
Or8k41	A	T	2: 86,313,582 (GRCm39)	F168Y	probably damaging	Het
Plec	G	T	15: 76,068,038 (GRCm39)	N1190K	possibly damaging	Het
Plin1	T	C	7: 79,379,719 (GRCm39)	T44A	probably damaging	Het
Pou3f2	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	4: 22,487,697 (GRCm39)		probably benign	Het
Pramel22	A	G	4: 143,383,204 (GRCm39)	L5P	probably damaging	Het
Psg27	A	G	7: 18,299,234 (GRCm39)	L29P	probably damaging	Het
Psmd13	C	A	7: 140,477,367 (GRCm39)	T292N	probably damaging	Het
Rab1b	A	T	19: 5,154,684 (GRCm39)	Y88*	probably null	Het
Reln	T	A	5: 22,104,027 (GRCm39)	I3315L	probably benign	Het
Rmdn2	A	T	17: 79,966,880 (GRCm39)	M257L	probably benign	Het
Rnd1	A	T	15: 98,574,435 (GRCm39)	F47L	probably damaging	Het
Rnf41	G	A	10: 128,274,076 (GRCm39)	V243I	probably benign	Het
Rnf43	C	G	11: 87,620,339 (GRCm39)	S226R	probably damaging	Het
Scn5a	A	T	9: 119,362,993 (GRCm39)	D542E	probably damaging	Het
Sema5b	A	T	16: 35,448,466 (GRCm39)	I81F	probably benign	Het
Serinc5	G	A	13: 92,819,285 (GRCm39)	C73Y	probably damaging	Het
Serpina3g	A	T	12: 104,205,551 (GRCm39)	N97Y	possibly damaging	Het
Shq1	A	G	6: 100,614,033 (GRCm39)	S262P	probably damaging	Het
Smad4	A	T	18: 73,781,978 (GRCm39)	I428N	probably damaging	Het
Snip1	G	T	4: 124,966,613 (GRCm39)	G348W	probably damaging	Het
Spg11	A	G	2: 121,901,422 (GRCm39)	L1506P	probably damaging	Het
Stard9	G	A	2: 120,526,694 (GRCm39)	V984I	possibly damaging	Het
Svopl	A	T	6: 38,006,635 (GRCm39)	F121I	possibly damaging	Het
Tjp1	A	T	7: 64,972,802 (GRCm39)	V546E	probably damaging	Het
Tmem116	T	A	5: 121,631,819 (GRCm39)	F110L	probably damaging	Het
Ttyh2	C	T	11: 114,601,714 (GRCm39)	T446M	probably benign	Het
Tubb1	A	T	2: 174,299,532 (GRCm39)	I405L	probably benign	Het
Uba5	A	T	9: 103,933,025 (GRCm39)	F155L	possibly damaging	Het
Ubd	C	T	17: 37,506,212 (GRCm39)	H33Y	probably damaging	Het
Ube3d	A	T	9: 86,322,648 (GRCm39)	D175E	probably benign	Het
Usp24	A	G	4: 106,278,157 (GRCm39)	Q2293R	probably benign	Het
Vmn1r175	T	A	7: 23,507,937 (GRCm39)	H230L	probably benign	Het
Vmn1r88	A	G	7: 12,912,060 (GRCm39)	I139V	probably benign	Het
Vmn2r1	T	C	3: 63,994,046 (GRCm39)	F131L	probably benign	Het
Yipf3	T	C	17: 46,562,155 (GRCm39)		probably null	Het
Zdhhc19	A	G	16: 32,325,258 (GRCm39)	K192R	probably benign	Het
Zfy1	G	A	Y: 725,611 (GRCm39)	T718I	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
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
R9559:Or5ac24	UTSW	16	59,165,368 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15