Mutagenetix > Incidental Mutation

Incidental Mutation 'R5424:Or8k24'

426739

Institutional Source

Beutler Lab

Gene Symbol

Or8k24

Ensembl Gene

ENSMUSG00000075186

Gene Name

olfactory receptor family 8 subfamily K member 24

Synonyms

MOR190-2, Olfr1058, GA_x6K02T2Q125-47855818-47854868

MMRRC Submission

042990-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R5424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86215810-86216760 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 86216184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 193 (Q193*)

Ref Sequence

ENSEMBL: ENSMUSP00000151037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102631] [ENSMUST00000213998]

AlphaFold

Q7TR74

Predicted Effect

probably null
Transcript: ENSMUST00000102631
AA Change: Q193*

SMART Domains

Protein: ENSMUSP00000099691
Gene: ENSMUSG00000075186
AA Change: Q193*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1e-49	PFAM
Pfam:7tm_1	41	290	1.1e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000213998
AA Change: Q193*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215214

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (59/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	A	1: 130,670,678 (GRCm39)	A300D	probably damaging	Het
Abca14	T	C	7: 119,810,777 (GRCm39)	Y119H	probably benign	Het
Actb	A	G	5: 142,891,306 (GRCm39)		probably benign	Het
Ada	T	A	2: 163,570,045 (GRCm39)	K323*	probably null	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Aire	A	T	10: 77,872,553 (GRCm39)	V355E	probably damaging	Het
Atp8a1	T	C	5: 67,969,443 (GRCm39)	I117M	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Clca3a2	A	G	3: 144,789,942 (GRCm39)	F465L	probably damaging	Het
Cpne8	T	A	15: 90,400,260 (GRCm39)	M345L	probably benign	Het
Ddx54	T	C	5: 120,757,926 (GRCm39)		probably null	Het
Dnah14	T	G	1: 181,590,875 (GRCm39)	M3256R	possibly damaging	Het
Epha2	T	A	4: 141,046,251 (GRCm39)	Y483*	probably null	Het
Ermard	T	A	17: 15,280,032 (GRCm39)	S509T	possibly damaging	Het
Fam186a	G	T	15: 99,843,644 (GRCm39)	H867N	unknown	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gas8	C	A	8: 124,253,251 (GRCm39)	L200I	possibly damaging	Het
Gfra2	A	T	14: 71,133,287 (GRCm39)	D39V	probably damaging	Het
Gm10770	T	C	2: 150,020,948 (GRCm39)	T190A	probably benign	Het
Gm2617	T	C	19: 9,301,320 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,805,017 (GRCm39)		probably benign	Het
Gmppb	T	A	9: 107,929,204 (GRCm39)		probably null	Het
Ifit2	T	A	19: 34,551,458 (GRCm39)	C333S	probably benign	Het
Ighg2b	T	C	12: 113,271,550 (GRCm39)	K1R	unknown	Het
Impdh2-ps	G	T	8: 100,758,141 (GRCm39)		noncoding transcript	Het
Kdelr2	A	C	5: 143,403,899 (GRCm39)	E96A	probably benign	Het
Lama2	G	A	10: 26,860,392 (GRCm39)	R3032C	probably damaging	Het
Lipg	T	A	18: 75,087,324 (GRCm39)	I166F	probably damaging	Het
Lrrc8b	T	C	5: 105,628,569 (GRCm39)	V305A	probably damaging	Het
Marveld2	T	C	13: 100,748,695 (GRCm39)	H128R	probably benign	Het
Mgat4a	A	G	1: 37,505,636 (GRCm39)	V189A	probably benign	Het
Mroh2b	A	T	15: 4,971,094 (GRCm39)	E1033V	probably damaging	Het
Mtmr7	A	G	8: 41,059,873 (GRCm39)	V80A	probably benign	Het
Ndrg2	A	G	14: 52,146,342 (GRCm39)	S153P	probably damaging	Het
Nelfa	C	T	5: 34,079,189 (GRCm39)		probably null	Het
Nes	G	T	3: 87,886,131 (GRCm39)	E1419D	possibly damaging	Het
Nipa1	C	A	7: 55,629,223 (GRCm39)	V297L	possibly damaging	Het
Obox5	T	A	7: 15,492,807 (GRCm39)	I254K	probably benign	Het
Or56b35	T	C	7: 104,963,778 (GRCm39)	V189A	possibly damaging	Het
Pcdhga7	G	A	18: 37,848,388 (GRCm39)	A132T	probably benign	Het
Pla1a	T	A	16: 38,235,137 (GRCm39)	I186F	probably damaging	Het
Plscr4	T	A	9: 92,372,075 (GRCm39)	M282K	possibly damaging	Het
Rpl22l1	T	C	3: 28,861,047 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,330,800 (GRCm39)	D1246G	probably damaging	Het
Senp7	A	G	16: 56,006,471 (GRCm39)	S932G	possibly damaging	Het
Slc51a	C	A	16: 32,297,565 (GRCm39)	A111S	probably benign	Het
Srcin1	T	A	11: 97,427,885 (GRCm39)	K236*	probably null	Het
Tbxas1	A	G	6: 39,004,839 (GRCm39)	D362G	possibly damaging	Het
Tcl1b5	T	C	12: 105,146,275 (GRCm39)	I116T	possibly damaging	Het
Tgm7	T	A	2: 120,929,522 (GRCm39)	M251L	probably damaging	Het
Tnn	T	A	1: 159,950,272 (GRCm39)	Q778L	possibly damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Zfp622	T	C	15: 25,984,855 (GRCm39)	C74R	probably damaging	Het
Zfp646	C	A	7: 127,481,875 (GRCm39)	H1351N	possibly damaging	Het

Other mutations in Or8k24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Or8k24	APN	2	86,216,365 (GRCm39)	nonsense	probably null
R0413:Or8k24	UTSW	2	86,216,058 (GRCm39)	missense	probably benign	0.02
R1315:Or8k24	UTSW	2	86,216,518 (GRCm39)	missense	possibly damaging	0.86
R1609:Or8k24	UTSW	2	86,215,838 (GRCm39)	missense	probably benign	0.07
R1951:Or8k24	UTSW	2	86,215,855 (GRCm39)	missense	probably benign	0.03
R2184:Or8k24	UTSW	2	86,216,489 (GRCm39)	missense	probably benign	0.05
R2351:Or8k24	UTSW	2	86,216,471 (GRCm39)	missense	probably damaging	0.99
R4067:Or8k24	UTSW	2	86,216,431 (GRCm39)	nonsense	probably null
R4706:Or8k24	UTSW	2	86,216,732 (GRCm39)	missense	probably benign	0.29
R5164:Or8k24	UTSW	2	86,215,815 (GRCm39)	missense	probably benign
R5224:Or8k24	UTSW	2	86,216,193 (GRCm39)	missense	possibly damaging	0.91
R5254:Or8k24	UTSW	2	86,216,484 (GRCm39)	missense	possibly damaging	0.65
R5907:Or8k24	UTSW	2	86,216,218 (GRCm39)	missense	probably damaging	0.97
R5980:Or8k24	UTSW	2	86,216,141 (GRCm39)	nonsense	probably null
R6348:Or8k24	UTSW	2	86,216,513 (GRCm39)	missense	probably benign
R6874:Or8k24	UTSW	2	86,215,872 (GRCm39)	missense	possibly damaging	0.95
R6897:Or8k24	UTSW	2	86,216,024 (GRCm39)	missense	possibly damaging	0.91
R7060:Or8k24	UTSW	2	86,216,569 (GRCm39)	missense	possibly damaging	0.95
R7516:Or8k24	UTSW	2	86,216,328 (GRCm39)	missense	probably benign	0.35
R7530:Or8k24	UTSW	2	86,216,515 (GRCm39)	missense	probably damaging	1.00
R8130:Or8k24	UTSW	2	86,215,911 (GRCm39)	missense	probably benign	0.14
R9147:Or8k24	UTSW	2	86,216,324 (GRCm39)	missense	probably benign	0.00
R9148:Or8k24	UTSW	2	86,216,324 (GRCm39)	missense	probably benign	0.00
Z1088:Or8k24	UTSW	2	86,216,523 (GRCm39)	missense	probably damaging	1.00
Z1088:Or8k24	UTSW	2	86,216,100 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- GTCCCATAGAAGACAGTGACC -3'
(R):5'- TATGACCGCTATGTGGCTATCTG -3'

Sequencing Primer
(F):5'- TGACCATTGTCAGGTGGGACC -3'
(R):5'- ACCGCTATGTGGCTATCTGTAAGC -3'

Posted On

2016-09-01