Mutagenetix > Incidental Mutation

Incidental Mutation 'R8280:Or8b52'

638154

Institutional Source

Beutler Lab

Gene Symbol

Or8b52

Ensembl Gene

ENSMUSG00000063225

Gene Name

olfactory receptor family 8 subfamily B member 52

Synonyms

MOR168-2P, GA_x6K02T2PVTD-32368166-32367237, Olfr917

MMRRC Submission

067703-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R8280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38576209-38577138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38576783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 119 (Y119F)

Ref Sequence

ENSEMBL: ENSMUSP00000075857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076542]

AlphaFold

Q7TRC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000076542
AA Change: Y119F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075857
Gene: ENSMUSG00000063225
AA Change: Y119F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.2e-42	PFAM
Pfam:7tm_1	41	289	3e-20	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (47/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	G	11: 72,086,667 (GRCm39)	V248A	possibly damaging	Het
Alpk2	A	G	18: 65,440,274 (GRCm39)	I373T	probably benign	Het
Anxa1	A	T	19: 20,352,650 (GRCm39)	M308K	possibly damaging	Het
Apob	T	C	12: 8,060,851 (GRCm39)	M3111T	possibly damaging	Het
Cacna1e	T	C	1: 154,344,839 (GRCm39)	D1095G	probably damaging	Het
Cacna2d3	C	T	14: 28,704,328 (GRCm39)	V818I	probably benign	Het
Ces1c	T	A	8: 93,825,809 (GRCm39)	H550L	possibly damaging	Het
Cluap1	A	G	16: 3,729,017 (GRCm39)		probably benign	Het
Cped1	G	T	6: 21,986,820 (GRCm39)	R4L	unknown	Het
Cyb561d1	A	G	3: 108,106,532 (GRCm39)	I229T	probably benign	Het
Cyb561d1	A	G	3: 108,106,713 (GRCm39)	C169R	probably damaging	Het
Dip2a	C	T	10: 76,100,610 (GRCm39)	V1522M	possibly damaging	Het
Diras2	A	G	13: 52,661,863 (GRCm39)	M148T	probably benign	Het
Dnah5	G	T	15: 28,408,538 (GRCm39)	A3508S	probably benign	Het
Fam43b	T	C	4: 138,123,281 (GRCm39)	E13G	probably damaging	Het
Farsa	T	G	8: 85,587,808 (GRCm39)	I113S	probably damaging	Het
Fcrl2	G	T	3: 87,166,364 (GRCm39)	S137*	probably null	Het
Fer1l4	T	C	2: 155,891,620 (GRCm39)	D114G	probably damaging	Het
Gm4181	A	T	14: 51,868,015 (GRCm39)	*185R	probably null	Het
Gm5901	G	A	7: 105,027,105 (GRCm39)		probably null	Het
Heatr4	C	A	12: 84,016,670 (GRCm39)	E532D	probably benign	Het
Il10	C	T	1: 130,947,749 (GRCm39)	P34L	possibly damaging	Het
Irag1	T	C	7: 110,522,828 (GRCm39)	E205G	possibly damaging	Het
Lilra6	A	G	7: 3,916,046 (GRCm39)	L271P	probably benign	Het
Mlh1	A	T	9: 111,078,286 (GRCm39)		probably null	Het
Naaa	T	C	5: 92,411,308 (GRCm39)	Y293C	probably damaging	Het
Ndufaf7	G	A	17: 79,251,275 (GRCm39)	G227R	possibly damaging	Het
Nmral1	A	G	16: 4,531,659 (GRCm39)	S199P	probably damaging	Het
Or1o11	T	C	17: 37,756,744 (GRCm39)	F100L	probably benign	Het
Or4c122	A	T	2: 89,079,234 (GRCm39)	I268K	probably damaging	Het
Or4k2	A	C	14: 50,423,723 (GRCm39)	L318*	probably null	Het
Or4x6	C	A	2: 89,949,742 (GRCm39)	V67L	probably benign	Het
Or6b2	T	C	1: 92,407,729 (GRCm39)	I205V	noncoding transcript	Het
Or8g21	C	T	9: 38,906,075 (GRCm39)	V219I	probably benign	Het
Paxbp1	G	T	16: 90,831,123 (GRCm39)	H418N	probably benign	Het
Prtg	A	G	9: 72,813,433 (GRCm39)	Y931C	probably damaging	Het
Robo4	T	C	9: 37,315,372 (GRCm39)	S239P	probably benign	Het
Rragd	A	G	4: 32,995,112 (GRCm39)	R76G	probably benign	Het
Samd8	G	A	14: 21,830,219 (GRCm39)	W278*	probably null	Het
Slc22a8	T	A	19: 8,586,627 (GRCm39)	Y379*	probably null	Het
Taar8c	T	A	10: 23,976,835 (GRCm39)	I326F	probably benign	Het
Tmem245	A	T	4: 56,890,884 (GRCm39)	S715T	possibly damaging	Het
Tnnt3	A	G	7: 142,055,359 (GRCm39)	I1M	unknown	Het
Trio	A	G	15: 27,902,996 (GRCm39)	I214T	unknown	Het
Uqcrfs1	A	T	13: 30,729,071 (GRCm39)	S54T	probably benign	Het
Usf3	A	G	16: 44,038,864 (GRCm39)	T1115A	probably benign	Het
Zscan4f	A	T	7: 11,251,599 (GRCm39)	I212F	probably damaging	Het

Other mutations in Or8b52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Or8b52	APN	9	38,576,289 (GRCm39)	missense	probably benign
IGL02704:Or8b52	APN	9	38,577,063 (GRCm39)	missense	possibly damaging	0.84
R0529:Or8b52	UTSW	9	38,576,808 (GRCm39)	missense	probably benign	0.11
R1575:Or8b52	UTSW	9	38,576,573 (GRCm39)	missense	probably damaging	1.00
R1681:Or8b52	UTSW	9	38,576,616 (GRCm39)	missense	probably benign
R2941:Or8b52	UTSW	9	38,576,322 (GRCm39)	missense	probably damaging	0.98
R3083:Or8b52	UTSW	9	38,576,912 (GRCm39)	missense	probably damaging	0.99
R4450:Or8b52	UTSW	9	38,577,050 (GRCm39)	missense	probably benign	0.17
R4755:Or8b52	UTSW	9	38,577,128 (GRCm39)	missense	probably benign
R4774:Or8b52	UTSW	9	38,576,519 (GRCm39)	missense	probably benign	0.21
R5322:Or8b52	UTSW	9	38,576,502 (GRCm39)	missense	probably benign	0.24
R5577:Or8b52	UTSW	9	38,576,297 (GRCm39)	missense	possibly damaging	0.49
R6101:Or8b52	UTSW	9	38,576,916 (GRCm39)	missense	probably damaging	0.99
R6105:Or8b52	UTSW	9	38,576,916 (GRCm39)	missense	probably damaging	0.99
R7084:Or8b52	UTSW	9	38,576,565 (GRCm39)	missense	probably benign	0.04
R8048:Or8b52	UTSW	9	38,577,108 (GRCm39)	missense	probably benign	0.03
R8676:Or8b52	UTSW	9	38,577,064 (GRCm39)	missense	probably benign	0.02
R8924:Or8b52	UTSW	9	38,576,780 (GRCm39)	missense	probably damaging	1.00
R9087:Or8b52	UTSW	9	38,576,711 (GRCm39)	missense	probably damaging	1.00
R9117:Or8b52	UTSW	9	38,577,106 (GRCm39)	missense	probably benign	0.03
R9220:Or8b52	UTSW	9	38,576,803 (GRCm39)	nonsense	probably null
R9317:Or8b52	UTSW	9	38,576,655 (GRCm39)	missense	probably benign	0.00
R9318:Or8b52	UTSW	9	38,576,580 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TCGTACAGGAGAGCTGAAGC -3'
(R):5'- TGGCAATGTACCTGGTCACTG -3'

Sequencing Primer
(F):5'- TATCACAGAAGTAGTAGTTGATGGTG -3'
(R):5'- CAATGTACCTGGTCACTGCATTGG -3'

Posted On

2020-07-28