Mutagenetix > Incidental Mutation

Incidental Mutation 'R8130:Or8k24'

631946

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

067559-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R8130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86215810-86216760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86215911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 284 (M284L)

Ref Sequence

ENSEMBL: ENSMUSP00000151037 (fasta)

Gene Model

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

AlphaFold

Q7TR74

Predicted Effect

probably benign
Transcript: ENSMUST00000102631
AA Change: M284L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099691
Gene: ENSMUSG00000075186
AA Change: M284L

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 benign
Transcript: ENSMUST00000213998
AA Change: M284L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.1%
20x: 97.3%

Validation Efficiency

96% (52/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,271 (GRCm39)	I130M	probably damaging	Het
4921539E11Rik	T	C	4: 103,092,895 (GRCm39)	D142G	probably damaging	Het
Abcb10	C	T	8: 124,691,757 (GRCm39)	A403T		Het
Arfgef2	T	A	2: 166,678,170 (GRCm39)	S218T	possibly damaging	Het
Armc8	C	T	9: 99,433,600 (GRCm39)	V40I	probably benign	Het
Caps2	A	T	10: 112,018,381 (GRCm39)	D177V	probably benign	Het
Cdh8	A	T	8: 99,757,676 (GRCm39)	F641I	probably damaging	Het
Cemip	T	C	7: 83,596,384 (GRCm39)	S1127G	probably benign	Het
Cmtm1	C	A	8: 105,036,088 (GRCm39)	Q180H	unknown	Het
Col15a1	C	T	4: 47,312,196 (GRCm39)	T1337I	probably damaging	Het
Col18a1	A	T	10: 76,910,284 (GRCm39)	M555K	probably benign	Het
Ctrb1	A	G	8: 112,415,823 (GRCm39)	F89L	possibly damaging	Het
Disp1	T	C	1: 182,917,199 (GRCm39)	T76A	probably benign	Het
Dpep1	T	C	8: 123,926,965 (GRCm39)	V263A	probably damaging	Het
Dysf	G	A	6: 84,114,358 (GRCm39)	E1216K	probably damaging	Het
F830016B08Rik	A	G	18: 60,433,052 (GRCm39)	Y45C	probably benign	Het
Fam186a	CGG	CG	15: 99,841,914 (GRCm39)		probably null	Het
Gcm1	T	A	9: 77,971,816 (GRCm39)	D252E	probably benign	Het
Gm11559	A	G	11: 99,755,416 (GRCm39)	T22A	unknown	Het
Gm4847	C	T	1: 166,465,917 (GRCm39)	R224Q	probably damaging	Het
Hypk	A	G	2: 121,286,859 (GRCm39)		probably benign	Het
I830077J02Rik	C	T	3: 105,834,233 (GRCm39)	C64Y	possibly damaging	Het
Igkv4-86	T	C	6: 68,887,650 (GRCm39)	I30V	probably benign	Het
Il17ra	A	G	6: 120,455,416 (GRCm39)	I342V	probably benign	Het
Kcnip3	C	T	2: 127,352,828 (GRCm39)	A64T	possibly damaging	Het
Kdm5d	T	A	Y: 940,658 (GRCm39)	D1056E	possibly damaging	Het
Kif19b	C	T	5: 140,460,716 (GRCm39)	R461C	probably damaging	Het
Krtap19-2	C	T	16: 88,670,903 (GRCm39)	G81R	unknown	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lpin1	A	T	12: 16,629,965 (GRCm39)	I69N		Het
Matcap1	G	A	8: 106,012,145 (GRCm39)	R101W	probably benign	Het
Mki67	C	T	7: 135,299,293 (GRCm39)	D1914N	probably damaging	Het
Mmrn1	A	T	6: 60,937,707 (GRCm39)	Q235L	probably damaging	Het
Mndal	T	A	1: 173,699,111 (GRCm39)	K185*	probably null	Het
Muc6	T	C	7: 141,233,354 (GRCm39)	T802A	probably damaging	Het
Necab1	A	T	4: 15,005,073 (GRCm39)	F130L	probably damaging	Het
Nemf	A	T	12: 69,402,826 (GRCm39)	M70K	possibly damaging	Het
Nploc4	A	G	11: 120,280,240 (GRCm39)	I436T	possibly damaging	Het
Obscn	C	A	11: 59,015,439 (GRCm39)	R1011M	probably damaging	Het
Or4k44	A	T	2: 111,367,825 (GRCm39)	F270I	probably damaging	Het
Or5aq1b	T	C	2: 86,901,570 (GRCm39)	K303E	probably benign	Het
Ormdl1	T	A	1: 53,338,139 (GRCm39)	M1K	probably null	Het
Pramel34	A	T	5: 93,784,597 (GRCm39)	L289Q	probably damaging	Het
Psmb3	A	G	11: 97,594,723 (GRCm39)	D38G	probably benign	Het
Psme4	T	A	11: 30,792,026 (GRCm39)	L1171Q	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc22a18	G	A	7: 143,052,911 (GRCm39)	V379I	probably damaging	Het
Speg	T	A	1: 75,392,240 (GRCm39)	F1632L	probably damaging	Het
Taok1	G	A	11: 77,470,659 (GRCm39)	R49C	possibly damaging	Het
Ttll6	T	C	11: 96,047,425 (GRCm39)	S675P	probably benign	Het
Usp8	A	T	2: 126,559,918 (GRCm39)		probably benign	Het
Vmn2r81	T	A	10: 79,110,538 (GRCm39)	N550K	possibly damaging	Het
Zfp119a	A	T	17: 56,172,971 (GRCm39)	C291S	probably damaging	Het
Zfp329	C	A	7: 12,544,313 (GRCm39)	G404C	probably damaging	Het
Zfp934	C	A	13: 62,667,985 (GRCm39)		probably null	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
R5424:Or8k24	UTSW	2	86,216,184 (GRCm39)	nonsense	probably null
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
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'- CATCTTCAGTAAAAGGGATTGAGTTCC -3'
(R):5'- TCAGGATGCACTCTGCTGAG -3'

Sequencing Primer
(F):5'- CAGGATTTAGAAGCTTAGCTACAAG -3'
(R):5'- CTGAGGGCAGGCGCAAG -3'

Posted On

2020-06-30