Mutagenetix > Incidental Mutation

Incidental Mutation 'R2847:Or8b53'

251722

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

040440-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R2847 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38664092-38668159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38667332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 116 (T116I)

Ref Sequence

ENSEMBL: ENSMUSP00000074300 (fasta)

Gene Model

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

AlphaFold

E9Q413

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074740
AA Change: T116I

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074300
Gene: ENSMUSG00000061039
AA Change: T116I

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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
4930510E17Rik	T	C	9: 53,176,089 (GRCm39)		noncoding transcript	Het
Abca13	T	C	11: 9,244,584 (GRCm39)	V2149A	possibly damaging	Het
Abca8a	T	C	11: 109,932,931 (GRCm39)	D1231G	probably damaging	Het
Adgrf5	C	A	17: 43,733,531 (GRCm39)	N118K	possibly damaging	Het
Atxn1	A	T	13: 45,720,175 (GRCm39)	D573E	probably damaging	Het
Bub3	C	T	7: 131,172,613 (GRCm39)	T326M	possibly damaging	Het
Cd151	T	C	7: 141,049,463 (GRCm39)	Y57H	probably damaging	Het
Cib4	T	C	5: 30,645,932 (GRCm39)	N112S	probably damaging	Het
Cntnap5c	A	T	17: 58,183,387 (GRCm39)	D31V	probably damaging	Het
Cobl	A	G	11: 12,328,342 (GRCm39)	L81P	probably damaging	Het
Cpsf1	A	T	15: 76,487,051 (GRCm39)	L209Q	probably damaging	Het
Crocc	G	A	4: 140,746,067 (GRCm39)	A1684V	probably damaging	Het
Cyp4f37	T	A	17: 32,848,099 (GRCm39)	C206S	probably damaging	Het
Defb39	C	T	8: 19,102,909 (GRCm39)	R62H	possibly damaging	Het
Dennd2b	T	C	7: 109,124,544 (GRCm39)	Q1099R	probably damaging	Het
Dnah6	T	C	6: 73,106,314 (GRCm39)	K1756E	probably benign	Het
Efcab12	A	G	6: 115,788,072 (GRCm39)	I630T	probably damaging	Het
Erc2	T	C	14: 27,762,445 (GRCm39)	V736A	probably damaging	Het
Fbf1	C	T	11: 116,048,514 (GRCm39)		probably null	Het
Fndc9	C	T	11: 46,128,868 (GRCm39)	A129V	probably damaging	Het
Foxk2	CGGGGGG	CGGGGGGGGG	11: 121,151,317 (GRCm39)		probably benign	Het
Gba2	T	C	4: 43,568,000 (GRCm39)		probably null	Het
Gna12	T	A	5: 140,771,348 (GRCm39)	D61V	probably damaging	Het
Gpr37	C	T	6: 25,666,945 (GRCm39)		probably benign	Het
Grin2a	A	G	16: 9,579,829 (GRCm39)	F145L	possibly damaging	Het
Grin2b	C	A	6: 135,717,951 (GRCm39)	V714L	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hmcn1	G	T	1: 150,439,350 (GRCm39)	Y5494*	probably null	Het
Htr4	T	C	18: 62,561,197 (GRCm39)	S153P	probably damaging	Het
Igkv9-120	T	A	6: 68,027,128 (GRCm39)		probably benign	Het
Itgb6	T	C	2: 60,430,879 (GRCm39)	T772A	probably damaging	Het
Mgam	C	A	6: 40,629,649 (GRCm39)	A86E	possibly damaging	Het
Mme	T	A	3: 63,252,620 (GRCm39)	N421K	possibly damaging	Het
Mmp1b	C	T	9: 7,370,763 (GRCm39)	V331I	probably benign	Het
Naa16	A	G	14: 79,573,323 (GRCm39)	C816R	probably damaging	Het
Nav1	G	C	1: 135,378,382 (GRCm39)		probably null	Het
Nln	A	G	13: 104,161,533 (GRCm39)	M679T	probably damaging	Het
Or1n1b	A	G	2: 36,780,536 (GRCm39)	L108P	probably damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Otop3	T	C	11: 115,235,384 (GRCm39)	F339L	probably damaging	Het
Pax7	T	C	4: 139,506,954 (GRCm39)	D361G	possibly damaging	Het
Peg10	C	T	6: 4,756,912 (GRCm39)		probably benign	Het
Plekhh2	G	T	17: 84,905,394 (GRCm39)	R1096L	probably damaging	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Rnf43	T	A	11: 87,623,093 (GRCm39)	N731K	probably benign	Het
Robo4	C	T	9: 37,315,772 (GRCm39)	R342*	probably null	Het
Sec23ip	G	A	7: 128,355,797 (GRCm39)	V307I	probably benign	Het
Slc2a4	T	A	11: 69,836,997 (GRCm39)	N116Y	probably damaging	Het
Tas1r3	T	A	4: 155,944,659 (GRCm39)	Q854L	probably benign	Het
Tox3	G	A	8: 90,975,018 (GRCm39)	Q538*	probably null	Het
Trpm4	A	G	7: 44,960,022 (GRCm39)	F771S	probably damaging	Het
Tstd3	A	T	4: 21,759,375 (GRCm39)	F132L	possibly damaging	Het
Ulk2	T	C	11: 61,715,555 (GRCm39)		probably null	Het
Unc13b	T	C	4: 43,180,404 (GRCm39)	Y3080H	probably benign	Het
Utp25	A	T	1: 192,810,759 (GRCm39)	N81K	probably benign	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn2r114	A	T	17: 23,509,948 (GRCm39)	M844K	probably benign	Het
Vmn2r60	A	T	7: 41,785,857 (GRCm39)	H220L	probably benign	Het
Vps13a	A	G	19: 16,680,963 (GRCm39)	S1078P	probably damaging	Het
Vwa8	G	T	14: 79,184,582 (GRCm39)	R360L	probably benign	Het
Xlr4b	A	T	X: 72,258,938 (GRCm39)	Q25L	probably null	Het
Zdhhc22	T	A	12: 87,035,336 (GRCm39)	T39S	probably benign	Het
Zfp532	T	A	18: 65,789,697 (GRCm39)	H1045Q	possibly damaging	Het
Zfp773	AGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGC	7: 7,136,092 (GRCm39)		probably benign	Het
Zfp964	G	C	8: 70,116,504 (GRCm39)	C368S	unknown	Het
Zfp985	G	A	4: 147,667,468 (GRCm39)	W112*	probably null	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
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
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'- ATGTTGCCATCACAGAACGAC -3'

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

Posted On

2014-12-04