Mutagenetix > Incidental Mutation

Incidental Mutation 'R8270:Or8b46'

639452

Institutional Source

Beutler Lab

Gene Symbol

Or8b46

Ensembl Gene

ENSMUSG00000060114

Gene Name

olfactory receptor family 8 subfamily B member 46

Synonyms

GA_x6K02T2PVTD-32239063-32239995, Olfr910, MOR165-3

MMRRC Submission

067694-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R8270 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38449178-38451125 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 38450644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 151 (M151R)

Gene Model

predicted gene model for transcript(s):

AlphaFold

Q8VG76

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000073214
AA Change: M151R

SMART Domains

Protein: ENSMUSP00000072947
Gene: ENSMUSG00000057444
AA Change: M151R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.9e-49	PFAM
Pfam:7tm_1	41	290	4.2e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

98% (52/53)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,651,163 (GRCm39)	T3044I	probably damaging	Het
Apbb1ip	C	T	2: 22,765,004 (GRCm39)	P562S	unknown	Het
Arhgap44	A	G	11: 64,912,860 (GRCm39)	M477T	possibly damaging	Het
Arhgef12	T	C	9: 42,882,354 (GRCm39)	T1497A	probably benign	Het
Atp5pd	T	C	11: 115,307,698 (GRCm39)	D91G	probably damaging	Het
Atp6v0a4	A	G	6: 38,051,164 (GRCm39)	F405L	probably damaging	Het
Bicc1	T	A	10: 70,767,938 (GRCm39)	T893S	probably damaging	Het
Cacna1i	T	A	15: 80,257,835 (GRCm39)	C1122S	probably damaging	Het
Capn7	A	G	14: 31,080,636 (GRCm39)	E369G	probably damaging	Het
Cass4	T	A	2: 172,269,589 (GRCm39)	L557Q	probably damaging	Het
Cdh5	A	G	8: 104,839,672 (GRCm39)	I48V	probably benign	Het
Crisp3	T	C	17: 40,546,813 (GRCm39)	K35R	probably benign	Het
Csde1	G	A	3: 102,946,071 (GRCm39)	A22T	possibly damaging	Het
Ctse	T	C	1: 131,595,877 (GRCm39)	Y190H	probably damaging	Het
Cyp2d34	T	A	15: 82,504,988 (GRCm39)	D24V	possibly damaging	Het
D630045J12Rik	A	T	6: 38,167,658 (GRCm39)	Y981*	probably null	Het
Dclre1a	G	A	19: 56,533,382 (GRCm39)	T404I	possibly damaging	Het
Dmc1	T	C	15: 79,485,746 (GRCm39)	D23G	probably damaging	Het
Dnah8	C	T	17: 31,059,687 (GRCm39)	T4429M	probably damaging	Het
Esf1	A	T	2: 139,997,033 (GRCm39)		probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fn3k	A	T	11: 121,330,137 (GRCm39)	M107L	probably benign	Het
Fxyd5	A	G	7: 30,740,854 (GRCm39)	L10P	probably damaging	Het
Gm21958	G	A	3: 54,621,633 (GRCm39)		probably benign	Het
Gm4922	C	T	10: 18,659,760 (GRCm39)	D321N	probably benign	Het
Gtf2h3	A	G	5: 124,734,050 (GRCm39)	*310W	probably null	Het
Hapln2	G	A	3: 87,930,851 (GRCm39)	T180I	possibly damaging	Het
Herc1	T	G	9: 66,395,232 (GRCm39)	V4189G	probably damaging	Het
Iqgap1	A	G	7: 80,379,875 (GRCm39)	V1166A	probably damaging	Het
Kcnk10	T	C	12: 98,401,358 (GRCm39)	N439S		Het
Klhl3	A	T	13: 58,260,968 (GRCm39)	M15K		Het
Klk1b26	A	T	7: 43,665,544 (GRCm39)	T151S	probably benign	Het
Krtap5-1	C	A	7: 141,850,199 (GRCm39)	C176F	unknown	Het
Krtap5-3	T	A	7: 141,755,693 (GRCm39)	C177S	unknown	Het
Lrrc37	T	C	11: 103,434,141 (GRCm39)	I3009M	unknown	Het
Map1a	T	C	2: 121,129,501 (GRCm39)	F180L	probably damaging	Het
Mfap5	T	C	6: 122,498,889 (GRCm39)		probably null	Het
Nckap1	T	A	2: 80,355,008 (GRCm39)	H638L	possibly damaging	Het
Optc	C	T	1: 133,832,810 (GRCm39)	V97M	probably benign	Het
Or5p78	T	A	7: 108,212,150 (GRCm39)	I212N	probably benign	Het
Piezo1	A	G	8: 123,228,298 (GRCm39)	Y330H		Het
Ppp1r12b	G	T	1: 134,803,886 (GRCm39)	N424K	probably benign	Het
Prdm5	T	A	6: 65,913,058 (GRCm39)	F580L	probably damaging	Het
Prr27	A	C	5: 87,994,171 (GRCm39)	K348N	possibly damaging	Het
Prr30	A	G	14: 101,435,822 (GRCm39)	Y247H	possibly damaging	Het
Rbks	A	T	5: 31,807,810 (GRCm39)		probably benign	Het
Sec24d	T	C	3: 123,099,535 (GRCm39)	V336A	possibly damaging	Het
Serac1	A	T	17: 6,101,033 (GRCm39)	L457H	probably damaging	Het
Serpina1f	A	G	12: 103,659,757 (GRCm39)	I175T	probably damaging	Het
Smr2l	T	C	5: 88,430,383 (GRCm39)	V93A	possibly damaging	Het
Sspo	A	T	6: 48,426,897 (GRCm39)	H242L	probably benign	Het
Tcaf2	A	T	6: 42,606,958 (GRCm39)	M332K	probably benign	Het
Tnrc6a	T	A	7: 122,769,294 (GRCm39)	N361K	possibly damaging	Het
Trim43b	G	T	9: 88,967,458 (GRCm39)	H393N	possibly damaging	Het
Ush2a	T	C	1: 188,176,838 (GRCm39)	L1334S	probably benign	Het
Usp35	T	C	7: 96,961,551 (GRCm39)	E625G	probably benign	Het

Other mutations in Or8b46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02740:Or8b46	APN	9	38,450,226 (GRCm39)	missense	probably damaging	1.00
R0096:Or8b46	UTSW	9	38,450,832 (GRCm39)	missense	probably damaging	0.96
R0550:Or8b46	UTSW	9	38,450,676 (GRCm39)	missense	probably damaging	0.97
R1375:Or8b46	UTSW	9	38,450,830 (GRCm39)	missense	possibly damaging	0.63
R1698:Or8b46	UTSW	9	38,450,552 (GRCm39)	nonsense	probably null
R2067:Or8b46	UTSW	9	38,450,576 (GRCm39)	missense	probably benign	0.09
R2111:Or8b46	UTSW	9	38,450,576 (GRCm39)	missense	probably benign	0.09
R2519:Or8b46	UTSW	9	38,450,281 (GRCm39)	missense	probably damaging	0.99
R4742:Or8b46	UTSW	9	38,450,952 (GRCm39)	missense	probably damaging	1.00
R4782:Or8b46	UTSW	9	38,450,371 (GRCm39)	missense	probably damaging	1.00
R6491:Or8b46	UTSW	9	38,558,751 (GRCm39)	missense	probably damaging	1.00
R7101:Or8b46	UTSW	9	38,450,966 (GRCm39)	missense	probably benign	0.02
R8108:Or8b46	UTSW	9	38,450,706 (GRCm39)	missense	probably damaging	0.97
R8426:Or8b46	UTSW	9	38,450,620 (GRCm39)	missense	probably damaging	0.98
R8446:Or8b46	UTSW	9	38,450,964 (GRCm39)	missense	probably benign	0.10
R9004:Or8b46	UTSW	9	38,450,530 (GRCm39)	missense	probably benign	0.29
R9463:Or8b46	UTSW	9	38,450,665 (GRCm39)	missense	probably damaging	0.97
Z1088:Or8b46	UTSW	9	38,450,445 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCCAAATTGCTGATGAACTTTG -3'
(R):5'- CTGGGCACAGTGATATCTTTTCC -3'

Sequencing Primer
(F):5'- AAGAAGAATATTATTGGTTTTGCGGG -3'
(R):5'- AGTGATATCTTTTCCCCCTACAATG -3'

Posted On

2020-07-28