Mutagenetix > Incidental Mutation

Incidental Mutation 'R9220:Or8b52'

699408

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

Accession Numbers

Essential gene?

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

Stock #

R9220 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38576209-38577138 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 38576803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 112 (Y112*)

Ref Sequence

ENSEMBL: ENSMUSP00000075857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076542] [ENSMUST00000215461]

AlphaFold

Q7TRC3

Predicted Effect

probably null
Transcript: ENSMUST00000076542
AA Change: Y112*

SMART Domains

Protein: ENSMUSP00000075857
Gene: ENSMUSG00000063225
AA Change: Y112*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215461

Coding Region Coverage

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Afg3l2	T	G	18: 67,562,266 (GRCm39)	I270L	probably benign	Het
Akap6	A	T	12: 53,187,232 (GRCm39)	I1549F	possibly damaging	Het
Ank2	T	C	3: 126,737,086 (GRCm39)	T2933A	unknown	Het
Atp1a3	C	A	7: 24,696,625 (GRCm39)	E309*	probably null	Het
B4galt2	T	C	4: 117,734,399 (GRCm39)	Y250C	probably damaging	Het
Bcl2l13	C	A	6: 120,847,735 (GRCm39)	T129K	possibly damaging	Het
Bltp3b	A	T	10: 89,626,457 (GRCm39)	T384S	probably benign	Het
Clp1	A	T	2: 84,554,076 (GRCm39)	H364Q	probably damaging	Het
Ddx27	T	C	2: 166,871,433 (GRCm39)	V510A	probably benign	Het
Dicer1	A	G	12: 104,679,415 (GRCm39)	C521R	probably damaging	Het
Dnah10	A	T	5: 124,871,437 (GRCm39)	I2486F	probably benign	Het
Eml1	C	A	12: 108,480,702 (GRCm39)	C389*	probably null	Het
Fabp6	C	T	11: 43,489,572 (GRCm39)	G23D	probably benign	Het
Fam3b	A	T	16: 97,302,111 (GRCm39)	S38T	probably benign	Het
Fsd1l	A	T	4: 53,679,799 (GRCm39)	K166*	probably null	Het
Galc	A	G	12: 98,220,523 (GRCm39)	S115P	probably damaging	Het
Gpn1	G	A	5: 31,664,884 (GRCm39)	A303T	probably benign	Het
Grid2	A	T	6: 63,885,888 (GRCm39)	S95C	probably damaging	Het
Helz	T	A	11: 107,560,873 (GRCm39)	S1312T	probably benign	Het
Matn2	T	C	15: 34,410,325 (GRCm39)	F506L	possibly damaging	Het
Mcemp1	A	G	8: 3,717,512 (GRCm39)	S148G	probably benign	Het
Minar1	T	A	9: 89,484,398 (GRCm39)	D333V	probably damaging	Het
Ndrg1	A	G	15: 66,805,711 (GRCm39)		probably null	Het
Nlrp4a	A	T	7: 26,149,523 (GRCm39)	N377Y	probably damaging	Het
Nox4	C	T	7: 86,970,774 (GRCm39)	T217I	probably benign	Het
Or7g21	T	C	9: 19,033,193 (GRCm39)	F311S	possibly damaging	Het
Phf8-ps	T	C	17: 33,286,494 (GRCm39)	I103V	probably benign	Het
Plekhd1	T	A	12: 80,768,726 (GRCm39)	F403Y	possibly damaging	Het
Plekhg1	T	C	10: 3,913,805 (GRCm39)	S1231P		Het
Plekhg3	T	A	12: 76,618,839 (GRCm39)	M497K	probably benign	Het
Rpap1	T	C	2: 119,604,669 (GRCm39)	H413R	probably damaging	Het
Rragd	A	G	4: 32,995,924 (GRCm39)	T90A	probably damaging	Het
Septin9	T	C	11: 117,242,396 (GRCm39)	M286T	probably benign	Het
Shpk	GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA	GA	11: 73,113,996 (GRCm39)		probably null	Het
Slc22a2	T	A	17: 12,838,757 (GRCm39)	D528E	probably benign	Het
Slirp	G	A	12: 87,494,376 (GRCm39)	R47K	probably benign	Het
Sncg	T	C	14: 34,096,474 (GRCm39)	T22A	possibly damaging	Het
Tnfrsf21	A	G	17: 43,398,801 (GRCm39)	S636G	probably damaging	Het
Unc80	T	G	1: 66,546,534 (GRCm39)	S535R	probably damaging	Het
Vmn1r149	A	T	7: 22,137,378 (GRCm39)	S93T	probably benign	Het
Vps13d	A	G	4: 144,783,058 (GRCm39)	Y3957H		Het
Wdr35	T	A	12: 9,036,000 (GRCm39)	V257E	possibly damaging	Het
Wscd1	A	G	11: 71,662,750 (GRCm39)	T264A	probably benign	Het
Zfp266	G	A	9: 20,413,337 (GRCm39)	Q108*	probably null	Het
Zfp62	T	A	11: 49,106,075 (GRCm39)	S55R	probably benign	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
R8280:Or8b52	UTSW	9	38,576,783 (GRCm39)	missense	probably damaging	1.00
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
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'- CACAGAAGGTCAGTCTAAGCATG -3'
(R):5'- GTACCTGGTCACTGCATTGG -3'

Sequencing Primer
(F):5'- GTCAGTCTAAGCATGCAAGC -3'
(R):5'- CTGGTCACTGCATTGGGAAATTTATC -3'

Posted On

2022-02-07