Mutagenetix > Incidental Mutation

Incidental Mutation 'R4067:Or8k24'

316149

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

040853-MU

Accession Numbers

Essential gene?

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

Stock #

R4067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86215810-86216760 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 86216431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 110 (C110*)

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: C110*

SMART Domains

Protein: ENSMUSP00000099691
Gene: ENSMUSG00000075186
AA Change: C110*

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: C110*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215214

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,769,150 (GRCm39)	T121S	possibly damaging	Het
4930503E14Rik	T	C	14: 44,406,641 (GRCm39)	E136G	probably damaging	Het
Adgrg4	A	G	X: 56,005,320 (GRCm39)	N2527S	probably damaging	Het
Ak1	G	A	2: 32,519,593 (GRCm39)	S7N	probably benign	Het
Aktip	A	C	8: 91,852,466 (GRCm39)	I230R	possibly damaging	Het
Alms1	A	G	6: 85,598,271 (GRCm39)	I1032M	probably damaging	Het
Asb4	T	A	6: 5,423,651 (GRCm39)	V266E	probably damaging	Het
Bace1	G	A	9: 45,765,962 (GRCm39)	V130M	probably damaging	Het
Bglap	A	T	3: 88,291,744 (GRCm39)		probably benign	Het
Brpf3	T	C	17: 29,040,233 (GRCm39)	S885P	probably benign	Het
Chd9	A	T	8: 91,750,202 (GRCm39)	I1742F	possibly damaging	Het
Col9a2	T	A	4: 120,909,586 (GRCm39)	I415N	probably damaging	Het
Cybc1	A	T	11: 121,115,528 (GRCm39)		probably null	Het
Dnajc7	T	C	11: 100,492,607 (GRCm39)	Y38C	probably benign	Het
Dync2i2	A	G	2: 29,922,820 (GRCm39)	L309P	probably benign	Het
Enam	A	G	5: 88,651,236 (GRCm39)	Y840C	probably damaging	Het
Etnppl	T	A	3: 130,425,442 (GRCm39)	C416S	probably damaging	Het
Fgf20	A	T	8: 40,732,896 (GRCm39)	S181T	probably benign	Het
Fut8	T	A	12: 77,510,835 (GRCm39)	Y421N	probably damaging	Het
Gcn1	T	G	5: 115,737,147 (GRCm39)	L1295R	probably damaging	Het
Gm11437	A	G	11: 84,055,337 (GRCm39)	V93A	probably benign	Het
Gm9989	T	C	3: 81,829,549 (GRCm39)		noncoding transcript	Het
Gsdmc4	A	T	15: 63,765,736 (GRCm39)		probably null	Het
Gvin3	T	A	7: 106,198,772 (GRCm39)		noncoding transcript	Het
Ighv10-1	A	T	12: 114,442,643 (GRCm39)	M114K	probably benign	Het
Il22b	T	C	10: 118,126,115 (GRCm39)	I161V	probably damaging	Het
Itfg2	T	A	6: 128,387,413 (GRCm39)		probably benign	Het
Kirrel1	G	A	3: 86,995,774 (GRCm39)	Q387*	probably null	Het
Klk1	C	T	7: 43,876,968 (GRCm39)	R24*	probably null	Het
Klra7	T	C	6: 130,208,612 (GRCm39)		probably null	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mrps2	A	G	2: 28,359,782 (GRCm39)	N213S	probably benign	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Ntrk3	T	A	7: 78,167,185 (GRCm39)	Y102F	probably damaging	Het
Otof	C	T	5: 30,556,635 (GRCm39)	G282D	probably damaging	Het
Pcdhb2	A	T	18: 37,430,367 (GRCm39)		probably null	Het
Pign	A	T	1: 105,515,703 (GRCm39)		probably null	Het
Plekha6	G	A	1: 133,222,416 (GRCm39)	E1001K	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Ppm1d	A	G	11: 85,236,678 (GRCm39)	T486A	probably benign	Het
Pudp	A	G	18: 50,701,329 (GRCm39)	F135L	probably benign	Het
Rd3l	T	G	12: 111,945,945 (GRCm39)	N178T	probably benign	Het
Rel	A	C	11: 23,703,215 (GRCm39)		probably null	Het
Sf3a1	T	A	11: 4,117,824 (GRCm39)	F195L	probably damaging	Het
Slc30a1	G	C	1: 191,639,401 (GRCm39)	A95P	probably damaging	Het
Slc47a2	T	C	11: 61,194,773 (GRCm39)	T469A	probably benign	Het
Slc4a10	A	T	2: 61,876,989 (GRCm39)	M1L	probably benign	Het
Slc8a1	T	A	17: 81,955,703 (GRCm39)	D445V	probably damaging	Het
Slc9a7	C	T	X: 20,071,793 (GRCm39)	G113R	probably damaging	Het
Spata31e5	T	A	1: 28,816,712 (GRCm39)	D440V	probably damaging	Het
Spic	T	C	10: 88,511,545 (GRCm39)	H237R	possibly damaging	Het
Stk26	A	G	X: 49,977,910 (GRCm39)	E317G	probably benign	Het
Tex10	A	T	4: 48,459,355 (GRCm39)	Y506*	probably null	Het
Trhde	T	A	10: 114,280,585 (GRCm39)	R848*	probably null	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Usp24	C	T	4: 106,216,286 (GRCm39)	T379M	possibly damaging	Het
Zfp783	A	T	6: 47,922,499 (GRCm39)		noncoding transcript	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
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
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'- TGACTAATGACATTGGAGCCAC -3'
(R):5'- TGGGCATGATCATCCTTACCTTG -3'

Sequencing Primer
(F):5'- CTAATGACATTGGAGCCACAGAAAG -3'
(R):5'- ACCTTGGTGGACTCCAGACTAC -3'

Posted On

2015-05-15