Mutagenetix > Incidental Mutation

Incidental Mutation 'R7800:Or8b53'

600483

Institutional Source

Beutler Lab

Gene Symbol

Or8b53

Ensembl Gene

ENSMUSG00000061039

Gene Name

olfactory receptor family 8 subfamily B member 53

Synonyms

MOR165-6, GA_x6K02T2PVTD-32458442-32459374, Olfr920

MMRRC Submission

045855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R7800 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38664092-38668159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 38667914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 310 (L310W)

Ref Sequence

ENSEMBL: ENSMUSP00000074300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074740]

AlphaFold

E9Q413

Predicted Effect

probably damaging
Transcript: ENSMUST00000074740
AA Change: L310W

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074300
Gene: ENSMUSG00000061039
AA Change: L310W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.2e-47	PFAM
Pfam:7tm_1	41	290	3.6e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (47/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,078,698 (GRCm39)	D1264G	probably benign	Het
Ace	T	C	11: 105,876,884 (GRCm39)	F1122S	probably damaging	Het
Actr10	T	G	12: 70,990,283 (GRCm39)	Y112D	probably benign	Het
Cacnb1	T	G	11: 97,900,121 (GRCm39)	I346L	possibly damaging	Het
Camsap2	T	C	1: 136,209,639 (GRCm39)	T607A	probably damaging	Het
Cby3	T	C	11: 50,250,175 (GRCm39)	F32S	probably damaging	Het
Cers5	G	T	15: 99,634,122 (GRCm39)	H409N	probably benign	Het
Ces1h	A	T	8: 94,106,322 (GRCm39)	L11H		Het
Clcnkb	T	C	4: 141,141,833 (GRCm39)	Y51C	probably benign	Het
Cnnm2	A	G	19: 46,866,420 (GRCm39)	E856G	probably benign	Het
Cnot1	A	G	8: 96,491,690 (GRCm39)	V378A	probably benign	Het
Crisp4	A	C	1: 18,198,973 (GRCm39)	S154A	probably benign	Het
Disp1	C	T	1: 182,880,550 (GRCm39)	R241Q	probably benign	Het
Ermard	G	A	17: 15,277,065 (GRCm39)	R429H	probably benign	Het
Extl1	C	T	4: 134,098,929 (GRCm39)	G34D	probably benign	Het
Gen1	T	C	12: 11,291,863 (GRCm39)	D707G	probably benign	Het
H1f3	C	A	13: 23,739,541 (GRCm39)	T93N	possibly damaging	Het
Igkv5-37	A	C	6: 69,940,499 (GRCm39)	S48R	possibly damaging	Het
Ilvbl	C	T	10: 78,419,809 (GRCm39)	A571V	possibly damaging	Het
Itgb1	A	G	8: 129,439,718 (GRCm39)	K136E	possibly damaging	Het
Lhx8	A	G	3: 154,027,284 (GRCm39)	F253L	probably damaging	Het
Naa25	A	G	5: 121,562,594 (GRCm39)	T459A	possibly damaging	Het
Nr3c2	A	G	8: 77,636,621 (GRCm39)	Y574C	probably damaging	Het
Nrxn1	C	T	17: 91,396,635 (GRCm39)		probably benign	Het
Ntrk3	T	A	7: 77,952,488 (GRCm39)	R576S	probably benign	Het
Nup210l	A	G	3: 90,041,904 (GRCm39)	Y403C	probably damaging	Het
Or2ag12	A	G	7: 106,276,781 (GRCm39)	V304A	probably benign	Het
Otogl	T	A	10: 107,722,376 (GRCm39)	Y326F	probably damaging	Het
Pcdha1	T	A	18: 37,064,426 (GRCm39)	D363E	probably damaging	Het
Pcdhb3	T	A	18: 37,434,974 (GRCm39)	N313K	probably benign	Het
Pcdhb9	A	C	18: 37,534,602 (GRCm39)	S199R	probably benign	Het
Pde4dip	C	T	3: 97,622,599 (GRCm39)	D1537N	probably damaging	Het
Pinx1	A	G	14: 64,156,984 (GRCm39)	K304E	probably benign	Het
Pnlip	T	C	19: 58,670,134 (GRCm39)	V458A	probably benign	Het
Polr3a	C	A	14: 24,534,455 (GRCm39)	M60I	probably null	Het
Qrich2	G	T	11: 116,347,686 (GRCm39)	S1046*	probably null	Het
Rigi	T	C	4: 40,211,618 (GRCm39)	E650G	probably benign	Het
Rps6ka5	G	A	12: 100,524,824 (GRCm39)	P638S	probably damaging	Het
Slc6a13	T	A	6: 121,298,658 (GRCm39)	N158K	probably damaging	Het
Sord	T	C	2: 122,089,561 (GRCm39)	V187A	probably damaging	Het
Sult2a2	A	G	7: 13,468,710 (GRCm39)	T59A	probably benign	Het
Thbs2	T	C	17: 14,896,558 (GRCm39)	D777G	probably damaging	Het
Tmed9	A	G	13: 55,743,345 (GRCm39)	D159G	probably benign	Het
Trbc1	A	G	6: 41,516,195 (GRCm39)	I142V		Het
Usp17ld	A	G	7: 102,900,041 (GRCm39)	V297A	probably damaging	Het
Vmn1r167	A	T	7: 23,204,069 (GRCm39)	*316R	probably null	Het
Wdr59	C	A	8: 112,248,570 (GRCm39)	R15L		Het
Zfp189	C	T	4: 49,529,367 (GRCm39)	P157S	possibly damaging	Het
Zfp407	C	T	18: 84,578,800 (GRCm39)	G771D	probably damaging	Het

Other mutations in Or8b53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01686:Or8b53	APN	9	38,667,550 (GRCm39)	missense	probably damaging	1.00
IGL01728:Or8b53	APN	9	38,667,391 (GRCm39)	missense	possibly damaging	0.63
IGL01867:Or8b53	APN	9	38,667,194 (GRCm39)	missense	probably damaging	1.00
IGL02271:Or8b53	APN	9	38,667,784 (GRCm39)	missense	probably benign
IGL03078:Or8b53	APN	9	38,667,541 (GRCm39)	nonsense	probably null
R0166:Or8b53	UTSW	9	38,667,484 (GRCm39)	missense	probably benign
R0446:Or8b53	UTSW	9	38,667,114 (GRCm39)	missense	probably damaging	1.00
R0453:Or8b53	UTSW	9	38,667,425 (GRCm39)	missense	probably damaging	0.99
R0556:Or8b53	UTSW	9	38,667,041 (GRCm39)	missense	possibly damaging	0.88
R1585:Or8b53	UTSW	9	38,667,716 (GRCm39)	missense	probably damaging	1.00
R2847:Or8b53	UTSW	9	38,667,332 (GRCm39)	missense	possibly damaging	0.89
R4676:Or8b53	UTSW	9	38,666,955 (GRCm39)	start gained	probably benign
R4825:Or8b53	UTSW	9	38,667,703 (GRCm39)	missense	probably damaging	1.00
R5026:Or8b53	UTSW	9	38,667,041 (GRCm39)	missense	probably benign	0.01
R5144:Or8b53	UTSW	9	38,667,689 (GRCm39)	missense	possibly damaging	0.90
R5573:Or8b53	UTSW	9	38,667,000 (GRCm39)	missense	probably damaging	1.00
R5872:Or8b53	UTSW	9	38,667,412 (GRCm39)	missense	probably benign	0.06
R6131:Or8b53	UTSW	9	38,667,362 (GRCm39)	missense	probably damaging	1.00
R6729:Or8b53	UTSW	9	38,667,124 (GRCm39)	missense	probably benign	0.00
R7731:Or8b53	UTSW	9	38,667,542 (GRCm39)	missense	possibly damaging	0.90
R8960:Or8b53	UTSW	9	38,667,385 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TGTAGTTCCCACATAATTGCTGTC -3'
(R):5'- AGCCATCTTGTCATGCCTAG -3'

Sequencing Primer
(F):5'- ATAATTGCTGTCTCTCTGTTCTTTGG -3'
(R):5'- AAACATCTCTGATGGGGCCTG -3'

Posted On

2019-11-26