Mutagenetix > Incidental Mutation

Incidental Mutation 'R5872:Or8b53'

455256

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

044079-MU

Accession Numbers

Essential gene?

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

Stock #

R5872 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38664092-38668159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38667412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 143 (Y143N)

Ref Sequence

ENSEMBL: ENSMUSP00000074300 (fasta)

Gene Model

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

AlphaFold

E9Q413

Predicted Effect

probably benign
Transcript: ENSMUST00000074740
AA Change: Y143N

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000074300
Gene: ENSMUSG00000061039
AA Change: Y143N

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.6%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,382,309 (GRCm39)	S1219P	possibly damaging	Het
A2ml1	A	G	6: 128,538,489 (GRCm39)	Y644H	probably damaging	Het
Abca9	T	G	11: 110,007,902 (GRCm39)	R1232S	possibly damaging	Het
Acsf2	C	T	11: 94,463,975 (GRCm39)	V70M	probably benign	Het
Ampd1	A	G	3: 102,986,446 (GRCm39)	I42V	probably benign	Het
Arhgap10	A	G	8: 78,071,267 (GRCm39)		probably null	Het
Atp1a4	A	T	1: 172,071,975 (GRCm39)	L432Q	probably damaging	Het
Bbs12	T	A	3: 37,374,598 (GRCm39)	C349S	possibly damaging	Het
Bnc2	A	G	4: 84,211,007 (GRCm39)	V479A	possibly damaging	Het
Cald1	A	T	6: 34,748,043 (GRCm39)	K761*	probably null	Het
Cd177	C	T	7: 24,451,688 (GRCm39)	G443R	probably null	Het
Cdc42bpb	T	C	12: 111,292,410 (GRCm39)	D375G	probably damaging	Het
Chsy3	T	C	18: 59,309,268 (GRCm39)	Y174H	probably damaging	Het
Cmya5	T	C	13: 93,233,943 (GRCm39)	M382V	probably benign	Het
Col1a2	G	A	6: 4,531,926 (GRCm39)	S782N	unknown	Het
Crtac1	C	T	19: 42,297,629 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,445,923 (GRCm39)	D3683V	probably damaging	Het
Ctrc	A	G	4: 141,572,354 (GRCm39)	L62P	probably damaging	Het
Cyp3a57	A	T	5: 145,307,867 (GRCm39)	K208*	probably null	Het
Dnaaf2	A	T	12: 69,244,122 (GRCm39)	L313Q	probably damaging	Het
Dtl	A	G	1: 191,278,680 (GRCm39)	L394P	probably benign	Het
Ehhadh	T	C	16: 21,585,305 (GRCm39)	E192G	probably benign	Het
Fads2	T	C	19: 10,059,997 (GRCm39)	I226V	probably benign	Het
Fat2	T	C	11: 55,161,208 (GRCm39)	E3174G	probably damaging	Het
Galnt14	C	T	17: 73,881,826 (GRCm39)	R91Q	probably damaging	Het
Hdhd5	G	T	6: 120,487,252 (GRCm39)	D368E	probably benign	Het
Hk3	T	A	13: 55,158,617 (GRCm39)	I528F	probably damaging	Het
Il10ra	A	C	9: 45,166,951 (GRCm39)	S533R	possibly damaging	Het
Itpr3	G	T	17: 27,305,950 (GRCm39)	K169N	probably benign	Het
Lrrc17	A	G	5: 21,780,264 (GRCm39)	T413A	probably benign	Het
Mcm2	C	T	6: 88,861,053 (GRCm39)	D882N	probably benign	Het
Met	T	C	6: 17,562,197 (GRCm39)	V1186A	probably damaging	Het
Msh5	C	T	17: 35,248,628 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,600,648 (GRCm39)	I1326M	probably damaging	Het
Nek10	A	G	14: 14,850,896 (GRCm38)	I314V	probably benign	Het
Or10g1	A	C	14: 52,648,225 (GRCm39)	F35V	probably damaging	Het
Pim1	A	G	17: 29,712,720 (GRCm39)	E211G	probably damaging	Het
Plaat1	T	A	16: 29,039,189 (GRCm39)	Y90N	probably benign	Het
Ppp1r12b	A	T	1: 134,704,144 (GRCm39)	D903E	probably benign	Het
Ptpn14	T	C	1: 189,583,229 (GRCm39)	L692P	probably benign	Het
Ptprt	A	G	2: 161,977,138 (GRCm39)	C387R	probably damaging	Het
Qrfprl	A	G	6: 65,418,369 (GRCm39)		probably benign	Het
Scarb1	A	G	5: 125,381,341 (GRCm39)	Y68H	possibly damaging	Het
Shisa6	T	A	11: 66,108,800 (GRCm39)	D359V	probably damaging	Het
Shprh	T	C	10: 11,063,817 (GRCm39)	S1297P	probably damaging	Het
Sik1	T	C	17: 32,069,125 (GRCm39)	D250G	probably damaging	Het
Slamf7	A	G	1: 171,466,635 (GRCm39)	L190S	probably damaging	Het
Slc22a3	G	A	17: 12,652,355 (GRCm39)	P423L	probably damaging	Het
Slc35e2	A	T	4: 155,697,137 (GRCm39)	E217V	probably damaging	Het
Spocd1	A	T	4: 129,850,254 (GRCm39)	N760I	probably damaging	Het
Tas2r136	G	T	6: 132,754,294 (GRCm39)	P278T	possibly damaging	Het
Tchhl1	A	T	3: 93,377,836 (GRCm39)	Q180L	probably benign	Het
Tmem151b	T	A	17: 45,858,010 (GRCm39)	T79S	probably benign	Het
Tomm70a	T	A	16: 56,965,105 (GRCm39)	C430S	probably benign	Het
Trbv16	T	A	6: 41,128,936 (GRCm39)	L40Q	probably damaging	Het
Trmt1l	T	G	1: 151,316,594 (GRCm39)	I32S	probably damaging	Het
Ubr4	A	G	4: 139,152,641 (GRCm39)	T2011A	probably damaging	Het
Urb1	C	T	16: 90,569,652 (GRCm39)	W1358*	probably null	Het
Usp31	T	G	7: 121,248,698 (GRCm39)	H915P	probably benign	Het
Vmn2r10	A	T	5: 109,151,377 (GRCm39)	M79K	possibly damaging	Het
Vmn2r14	A	G	5: 109,369,222 (GRCm39)	I117T	probably benign	Het
Vps13b	A	G	15: 35,869,497 (GRCm39)	H2667R	possibly damaging	Het
Vwa5b1	G	A	4: 138,305,962 (GRCm39)	T912M	possibly damaging	Het
Zfp709	G	A	8: 72,643,363 (GRCm39)	C264Y	probably benign	Het
Zkscan5	A	G	5: 145,156,898 (GRCm39)	I467V	probably benign	Het
Zxdc	A	T	6: 90,347,281 (GRCm39)	D214V	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
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
R7800:Or8b53	UTSW	9	38,667,914 (GRCm39)	missense	probably damaging	0.97
R8960:Or8b53	UTSW	9	38,667,385 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- AACTGCATTGGGGAATTTGAC -3'
(R):5'- GGGCACAATGATATCCTTCCC -3'

Sequencing Primer
(F):5'- GTGCTGAATTCTCACCTTCATAC -3'
(R):5'- GCACAATGATATCCTTCCCTGCTAC -3'

Posted On

2017-02-10