Mutagenetix > Incidental Mutation

Incidental Mutation 'R5224:Or8k24'

402478

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

042797-MU

Accession Numbers

Essential gene?

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

Stock #

R5224 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86215810-86216760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86216193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 190 (S190P)

Ref Sequence

ENSEMBL: ENSMUSP00000151037 (fasta)

Gene Model

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

AlphaFold

Q7TR74

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102631
AA Change: S190P

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099691
Gene: ENSMUSG00000075186
AA Change: S190P

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

possibly damaging
Transcript: ENSMUST00000213998
AA Change: S190P

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215214

Meta Mutation Damage Score

0.3140

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (58/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	CGTGACCTTTCTGGT	CGT	10: 85,481,386 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,862,921 (GRCm39)	S699G	probably damaging	Het
Atp10d	C	T	5: 72,426,669 (GRCm39)	A959V	probably benign	Het
Axl	T	C	7: 25,486,369 (GRCm39)	M112V	probably benign	Het
Brd10	A	T	19: 29,696,450 (GRCm39)	S1014R	possibly damaging	Het
Camk1g	A	T	1: 193,037,342 (GRCm39)	D119E	probably damaging	Het
Capn8	A	C	1: 182,424,554 (GRCm39)	N117T	probably damaging	Het
Cct3	G	A	3: 88,204,532 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,752,080 (GRCm39)	T1293A	possibly damaging	Het
Depdc1b	A	G	13: 108,521,354 (GRCm39)	D387G	probably damaging	Het
Dtx3l	A	G	16: 35,759,163 (GRCm39)	Y29H	possibly damaging	Het
Erp44	A	T	4: 48,279,435 (GRCm39)	N2K	probably benign	Het
Fmn1	A	G	2: 113,195,470 (GRCm39)	E390G	unknown	Het
Ganab	T	A	19: 8,887,955 (GRCm39)	D396E	probably benign	Het
Gatd3a	A	G	10: 77,999,367 (GRCm39)	V148A	probably damaging	Het
Gcc2	T	A	10: 58,121,982 (GRCm39)	S1140T	probably damaging	Het
Gm7008	T	C	12: 40,273,342 (GRCm39)		probably benign	Het
Gphn	T	A	12: 78,637,361 (GRCm39)	F354I	probably damaging	Het
H2-T7	G	A	17: 36,454,231 (GRCm39)		noncoding transcript	Het
Hnrnpul1	G	A	7: 25,444,600 (GRCm39)	T236M	probably damaging	Het
Itpr2	T	A	6: 146,068,149 (GRCm39)	M2410L	probably benign	Het
Jaml	T	A	9: 45,015,564 (GRCm39)	M356K	probably damaging	Het
Kbtbd12	T	A	6: 88,594,681 (GRCm39)		probably benign	Het
Ldlrad3	G	T	2: 101,943,954 (GRCm39)	N39K	probably damaging	Het
Lrp1b	G	A	2: 41,000,852 (GRCm39)	T2238I	possibly damaging	Het
Lypd8	T	A	11: 58,277,634 (GRCm39)	C139S	possibly damaging	Het
Masp1	G	T	16: 23,313,445 (GRCm39)	H163Q	probably damaging	Het
Mpo	T	C	11: 87,687,283 (GRCm39)		probably benign	Het
Muc19	A	T	15: 91,825,910 (GRCm39)		noncoding transcript	Het
Muc5ac	T	A	7: 141,347,708 (GRCm39)	S438T	probably benign	Het
Nav2	T	C	7: 49,201,473 (GRCm39)	V160A	probably benign	Het
Nlrc5	G	T	8: 95,220,944 (GRCm39)	A1128S	probably benign	Het
Nlrp5	T	A	7: 23,117,401 (GRCm39)	L375Q	probably damaging	Het
Nlrp9a	A	G	7: 26,256,717 (GRCm39)	T112A	probably benign	Het
Nppa	T	C	4: 148,085,773 (GRCm39)	S127P	probably damaging	Het
Osbpl1a	T	C	18: 13,066,753 (GRCm39)	N2S	probably benign	Het
Otoa	A	G	7: 120,739,016 (GRCm39)	T742A	probably damaging	Het
Pcdh10	A	G	3: 45,347,249 (GRCm39)	R1015G	probably damaging	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Plpp1	T	A	13: 112,988,046 (GRCm39)	Y56*	probably null	Het
Ppp1r12a	A	G	10: 108,096,886 (GRCm39)	T236A	probably benign	Het
Rhag	T	C	17: 41,139,395 (GRCm39)	L110P	probably damaging	Het
Scn11a	T	A	9: 119,583,858 (GRCm39)	N1586Y	probably damaging	Het
Sgms2	T	A	3: 131,135,766 (GRCm39)	K36I	probably damaging	Het
Slc22a2	A	G	17: 12,805,719 (GRCm39)	N157D	probably damaging	Het
Stx19	T	G	16: 62,642,937 (GRCm39)	M251R	probably benign	Het
Suco	A	G	1: 161,662,274 (GRCm39)	I719T	probably benign	Het
Tnr	A	G	1: 159,750,885 (GRCm39)	D1282G	probably damaging	Het
Tram1	T	C	1: 13,648,349 (GRCm39)	R154G	probably benign	Het
Ubtfl1	G	T	9: 18,321,326 (GRCm39)	V285L	probably benign	Het
Ugt2b38	A	G	5: 87,571,601 (GRCm39)	S144P	probably benign	Het
Washc2	T	G	6: 116,185,965 (GRCm39)	*58G	probably null	Het
Zfp354a	T	A	11: 50,960,876 (GRCm39)	S362R	probably 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
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
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'- AGTCCCATAGAAGACAGTGACC -3'
(R):5'- CCGCTATGTGGCTATCTGTAAG -3'

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

Posted On

2016-07-22