Mutagenetix > Incidental Mutation

Incidental Mutation 'R8446:Or8b46'

654503

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

067827-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R8446 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38449178-38451125 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38450964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 258 (M258L)

Ref Sequence

ENSEMBL: ENSMUSP00000149263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000215122]

AlphaFold

Q8VG76

Predicted Effect

probably benign
Transcript: ENSMUST00000215122
AA Change: M258L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	G	A	5: 24,771,641 (GRCm39)	R529*	probably null	Het
Afap1	T	A	5: 36,144,645 (GRCm39)	S122T		Het
Arnt	TG	T	3: 95,382,014 (GRCm39)		probably null	Het
Bbs1	G	A	19: 4,947,633 (GRCm39)	T307I	probably benign	Het
Cacna1c	A	T	6: 118,604,411 (GRCm39)	S1439T		Het
Camk4	T	A	18: 33,289,810 (GRCm39)	H152Q	probably damaging	Het
Capn2	A	T	1: 182,311,796 (GRCm39)	M426K	possibly damaging	Het
Chrm3	C	T	13: 9,928,338 (GRCm39)	G233S	probably damaging	Het
Clca3a1	A	T	3: 144,454,248 (GRCm39)	Y461N	probably damaging	Het
Clip1	G	C	5: 123,794,008 (GRCm39)	P12A	probably damaging	Het
Cmya5	A	G	13: 93,230,336 (GRCm39)	L1584P	possibly damaging	Het
Commd5	T	C	15: 76,785,094 (GRCm39)	S164P	probably damaging	Het
Csgalnact1	A	G	8: 68,913,743 (GRCm39)	V154A	probably damaging	Het
Ddias	C	A	7: 92,515,818 (GRCm39)	C25F	probably damaging	Het
Dnah7b	A	T	1: 46,329,875 (GRCm39)	I3240F	probably damaging	Het
Fam186a	T	G	15: 99,845,335 (GRCm39)	D303A	unknown	Het
Igkv8-27	A	G	6: 70,148,932 (GRCm39)	I74T	probably damaging	Het
Itgb2l	G	T	16: 96,233,857 (GRCm39)	Q278K	probably damaging	Het
Itgb7	T	C	15: 102,127,043 (GRCm39)	E464G	probably damaging	Het
Kdm2a	G	A	19: 4,406,916 (GRCm39)	Q116*	probably null	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 141,728,845 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,942,035 (GRCm39)		probably null	Het
Lnx2	A	G	5: 146,970,169 (GRCm39)	L191S	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myh4	T	A	11: 67,144,347 (GRCm39)	M1239K	probably benign	Het
Nckap5l	C	A	15: 99,323,930 (GRCm39)	G858C	probably benign	Het
Nelfa	A	T	5: 34,058,982 (GRCm39)	L262Q	probably damaging	Het
Or2j3	A	G	17: 38,615,638 (GRCm39)	V238A	probably benign	Het
Pdgfa	T	C	5: 138,964,395 (GRCm39)	T211A	unknown	Het
Prl3d2	A	T	13: 27,307,976 (GRCm39)	I86F	probably benign	Het
Rpf2	T	A	10: 40,115,752 (GRCm39)	T76S	probably benign	Het
Setbp1	C	T	18: 78,900,971 (GRCm39)	D899N	probably damaging	Het
Slc35c1	T	A	2: 92,284,707 (GRCm39)	E315D	probably benign	Het
Slc6a3	A	T	13: 73,719,674 (GRCm39)	M568L	possibly damaging	Het
Sorbs1	T	C	19: 40,314,602 (GRCm39)	M737V	probably benign	Het
Sox17	A	G	1: 4,562,316 (GRCm39)	Y295H	possibly damaging	Het
Tex44	A	T	1: 86,354,696 (GRCm39)	I202F	possibly damaging	Het
Tinagl1	C	T	4: 130,060,694 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,673 (GRCm39)	N155K	probably damaging	Het
Tmem245	T	C	4: 56,906,261 (GRCm39)	Q548R	probably benign	Het
Topbp1	T	A	9: 103,186,061 (GRCm39)	F68I	probably damaging	Het
Trim67	G	T	8: 125,520,730 (GRCm39)	A31S	probably damaging	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Ttn	A	C	2: 76,778,553 (GRCm39)	M1316R	unknown	Het
Usp40	T	C	1: 87,906,190 (GRCm39)	T682A	probably benign	Het
Wfs1	A	T	5: 37,128,953 (GRCm39)	D272E	probably benign	Het
Zfp763	A	T	17: 33,238,473 (GRCm39)	M224K	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
R8270:Or8b46	UTSW	9	38,450,644 (GRCm39)	missense	noncoding transcript
R8426:Or8b46	UTSW	9	38,450,620 (GRCm39)	missense	probably damaging	0.98
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'- GCACAAGCACCTATATAAATGAGG -3'
(R):5'- AGTGAAGTAGGCACTGAACC -3'

Sequencing Primer
(F):5'- AATGAGGTAGAGATTTTCATTGTAGG -3'
(R):5'- AGGCACTGAACCAAGAAAATCTTG -3'

Posted On

2020-10-20