Mutagenetix > Incidental Mutation

Incidental Mutation 'R6978:Or13a24'

542565

Institutional Source

Beutler Lab

Gene Symbol

Or13a24

Ensembl Gene

ENSMUSG00000095901

Gene Name

olfactory receptor family 13 subfamily A member 24

Synonyms

Olfr538, MOR253-13P, MOR253-13P, MOR253-12P, GA_x6K02T2PBJ9-42723314-42724246, MOR253-10P, Olfr1523-ps1, Olfr1553-ps1, MOR253-12P

MMRRC Submission

045086-MU

Accession Numbers

Essential gene?

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

Stock #

R6978 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140154068-140155000 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 140154200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 45 (I45L)

Ref Sequence

ENSEMBL: ENSMUSP00000147315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084457] [ENSMUST00000210973]

AlphaFold

Q7TRT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000084457
AA Change: I45L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081495
Gene: ENSMUSG00000095901
AA Change: I45L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5e-50	PFAM
Pfam:7TM_GPCR_Srsx	35	304	2.8e-6	PFAM
Pfam:7tm_1	41	290	2.5e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000210973
AA Change: I45L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.2133

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprh	C	T	16: 38,266,171 (GRCm39)	G324S	probably damaging	Het
Amfr	T	C	8: 94,727,015 (GRCm39)	E140G	probably damaging	Het
Anapc1	G	T	2: 128,511,820 (GRCm39)	Q458K	probably benign	Het
Ap1g1	T	C	8: 110,554,968 (GRCm39)		probably null	Het
Arhgap45	G	T	10: 79,857,682 (GRCm39)	V211F	probably benign	Het
Baz2b	T	C	2: 59,738,059 (GRCm39)	E1750G	possibly damaging	Het
Cmpk2	A	T	12: 26,527,018 (GRCm39)	T336S	probably damaging	Het
Col6a3	C	T	1: 90,735,192 (GRCm39)		probably null	Het
Cyp2c29	T	C	19: 39,310,107 (GRCm39)	L272P	probably damaging	Het
Cyp3a13	A	T	5: 137,903,801 (GRCm39)	S286T	probably benign	Het
Cyp4f18	T	G	8: 72,756,340 (GRCm39)	S79R	probably benign	Het
Dio1	T	C	4: 107,164,030 (GRCm39)	T96A	probably benign	Het
Dnah7a	T	C	1: 53,701,526 (GRCm39)	I210V	probably null	Het
Epha4	A	G	1: 77,354,220 (GRCm39)	Y841H	probably damaging	Het
Gm12695	T	C	4: 96,657,959 (GRCm39)	D70G	possibly damaging	Het
Gtf3c1	G	T	7: 125,244,706 (GRCm39)	T1680K	possibly damaging	Het
Hnrnpul2	T	C	19: 8,801,640 (GRCm39)	V314A	probably damaging	Het
Irx3	G	T	8: 92,527,356 (GRCm39)	P116Q	probably damaging	Het
Lrp4	C	T	2: 91,322,343 (GRCm39)	R1060C	probably damaging	Het
Mark3	G	A	12: 111,593,582 (GRCm39)	V205I	probably benign	Het
Mchr1	T	C	15: 81,121,997 (GRCm39)	L249P	possibly damaging	Het
Med26	T	C	8: 73,250,427 (GRCm39)	N224S	possibly damaging	Het
Megf9	C	T	4: 70,351,766 (GRCm39)	V452I	probably benign	Het
Mki67	T	C	7: 135,303,691 (GRCm39)	R726G	probably benign	Het
Mst1r	T	A	9: 107,789,793 (GRCm39)	L583Q	probably benign	Het
Mybpc1	A	G	10: 88,358,886 (GRCm39)	C1102R	probably damaging	Het
Nr6a1	T	C	2: 38,762,631 (GRCm39)	T55A	probably benign	Het
Nup210l	G	A	3: 90,061,873 (GRCm39)	R684Q	possibly damaging	Het
Or4f7	T	A	2: 111,644,155 (GRCm39)	L305F	probably benign	Het
Or6x1	C	T	9: 40,099,085 (GRCm39)	R225W	probably damaging	Het
Pgbd1	A	G	13: 21,607,432 (GRCm39)	L254P	probably damaging	Het
Pou6f2	A	G	13: 18,347,063 (GRCm39)	F10L	probably damaging	Het
Ppfia3	T	A	7: 44,996,272 (GRCm39)	T726S	probably benign	Het
Rab21	T	A	10: 115,134,766 (GRCm39)	M118L	possibly damaging	Het
Rbm6	T	C	9: 107,729,774 (GRCm39)		probably null	Het
Rmc1	T	C	18: 12,318,804 (GRCm39)	Y430H	probably benign	Het
Rpp38	A	G	2: 3,330,758 (GRCm39)	L48P	probably damaging	Het
Sart3	A	T	5: 113,883,807 (GRCm39)	I735N	probably damaging	Het
Slc44a1	T	A	4: 53,544,671 (GRCm39)	Y461N	probably damaging	Het
Smok2b	A	T	17: 13,455,295 (GRCm39)	*485L	probably null	Het
Speer4a2	C	A	5: 26,291,454 (GRCm39)	E117D	probably damaging	Het
Spink8	T	C	9: 109,649,725 (GRCm39)	V69A	probably benign	Het
Spred2	G	A	11: 19,948,254 (GRCm39)	R83Q	possibly damaging	Het
Tmc1	T	C	19: 20,781,999 (GRCm39)	N573S	probably damaging	Het
Tmem275	C	T	4: 115,755,560 (GRCm39)	Q120*	probably null	Het
Tox4	G	T	14: 52,524,694 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,839,259 (GRCm39)	S531G	probably benign	Het
Vmn2r56	C	T	7: 12,449,333 (GRCm39)	V302I	probably benign	Het
Ypel1	C	T	16: 16,902,438 (GRCm39)	A110V	probably benign	Het
Zfp395	G	A	14: 65,623,882 (GRCm39)	R117H	probably benign	Het
Zic5	T	C	14: 122,696,960 (GRCm39)	T552A	unknown	Het
Zic5	CGACGAGTAG	C	14: 122,696,967 (GRCm39)		probably benign	Het

Other mutations in Or13a24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01894:Or13a24	APN	7	140,154,683 (GRCm39)	missense	possibly damaging	0.93
IGL02066:Or13a24	APN	7	140,154,413 (GRCm39)	missense	possibly damaging	0.55
IGL02214:Or13a24	APN	7	140,154,470 (GRCm39)	nonsense	probably null
IGL02466:Or13a24	APN	7	140,154,684 (GRCm39)	missense	probably benign	0.01
IGL02534:Or13a24	APN	7	140,154,554 (GRCm39)	missense	probably benign	0.00
R0631:Or13a24	UTSW	7	140,154,420 (GRCm39)	missense	probably damaging	1.00
R0989:Or13a24	UTSW	7	140,154,200 (GRCm39)	missense	probably damaging	0.99
R1470:Or13a24	UTSW	7	140,154,662 (GRCm39)	missense	probably benign	0.02
R1470:Or13a24	UTSW	7	140,154,662 (GRCm39)	missense	probably benign	0.02
R1533:Or13a24	UTSW	7	140,155,034 (GRCm39)	splice site	probably null
R1764:Or13a24	UTSW	7	140,154,383 (GRCm39)	missense	probably damaging	0.97
R2184:Or13a24	UTSW	7	140,154,315 (GRCm39)	missense	probably benign
R2513:Or13a24	UTSW	7	140,154,069 (GRCm39)	start codon destroyed	probably null	0.97
R4445:Or13a24	UTSW	7	140,154,302 (GRCm39)	missense	probably damaging	1.00
R4476:Or13a24	UTSW	7	140,154,842 (GRCm39)	missense	probably damaging	1.00
R4607:Or13a24	UTSW	7	140,154,554 (GRCm39)	missense	probably benign	0.02
R4608:Or13a24	UTSW	7	140,154,554 (GRCm39)	missense	probably benign	0.02
R4752:Or13a24	UTSW	7	140,154,515 (GRCm39)	missense	possibly damaging	0.57
R6934:Or13a24	UTSW	7	140,154,564 (GRCm39)	missense	probably damaging	1.00
R7559:Or13a24	UTSW	7	140,154,356 (GRCm39)	missense	probably damaging	1.00
R7583:Or13a24	UTSW	7	140,154,123 (GRCm39)	missense	probably benign	0.01
R7685:Or13a24	UTSW	7	140,154,159 (GRCm39)	missense	probably damaging	1.00
R8406:Or13a24	UTSW	7	140,154,044 (GRCm39)	start gained	probably benign
R8884:Or13a24	UTSW	7	140,154,224 (GRCm39)	missense	probably benign	0.00
Z1177:Or13a24	UTSW	7	140,154,869 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- AATCCACACCTCTATGAACTGG -3'
(R):5'- CGGTCATAGGCCATAACTGTG -3'

Sequencing Primer
(F):5'- CCTCTATGAACTGGATACTCCAC -3'
(R):5'- TCATAGGCCATAACTGTGAGCAGC -3'

Posted On

2018-11-28