Mutagenetix > Incidental Mutation

Incidental Mutation 'R8390:Or8b49'

647333

Institutional Source

Beutler Lab

Gene Symbol

Or8b49

Ensembl Gene

ENSMUSG00000059189

Gene Name

olfactory receptor family 8 subfamily B member 49

Synonyms

MOR165-9P, GA_x6K02T2PVTD-32296575-32297513, Olfr913, MOR165-10

MMRRC Submission

067755-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8390 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38504099-38506457 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 38505887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 123 (Y123*)

Ref Sequence

ENSEMBL: ENSMUSP00000079876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081095]

AlphaFold

E9Q716

Predicted Effect

probably null
Transcript: ENSMUST00000081095
AA Change: Y123*

SMART Domains

Protein: ENSMUSP00000079876
Gene: ENSMUSG00000059189
AA Change: Y123*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.6e-49	PFAM
Pfam:7tm_1	41	290	3.9e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,830,841 (GRCm39)	F50I	unknown	Het
Abca9	A	T	11: 110,036,456 (GRCm39)	M551K	probably benign	Het
Adgrl3	T	C	5: 81,914,057 (GRCm39)	S1145P	probably damaging	Het
Brix1	C	T	15: 10,485,954 (GRCm39)	R9H	probably benign	Het
C1d	T	C	11: 17,213,993 (GRCm39)	V83A	probably damaging	Het
Ciz1	G	T	2: 32,257,335 (GRCm39)	V127L	probably benign	Het
Csnk1g3	A	T	18: 54,081,150 (GRCm39)	T374S	probably benign	Het
Elavl1	T	A	8: 4,339,623 (GRCm39)	K320*	probably null	Het
Foxn3	T	A	12: 99,355,000 (GRCm39)	M55L	probably benign	Het
Gm14399	A	T	2: 174,972,605 (GRCm39)	Y383*	probably null	Het
H2-M10.5	T	A	17: 37,085,487 (GRCm39)	H215Q	probably benign	Het
Hsd17b13	C	A	5: 104,120,512 (GRCm39)	C80F	probably damaging	Het
Ifi206	G	T	1: 173,308,511 (GRCm39)	T495N		Het
Ifi207	GTT	GT	1: 173,557,016 (GRCm39)		probably null	Het
Ipo13	A	T	4: 117,769,534 (GRCm39)	I86N	probably damaging	Het
Iqcf3	T	G	9: 106,438,175 (GRCm39)	E16A	unknown	Het
Kcnh5	T	A	12: 75,134,532 (GRCm39)	D339V	probably damaging	Het
Lmbr1	C	T	5: 29,440,040 (GRCm39)	M441I	probably benign	Het
Me3	G	T	7: 89,498,803 (GRCm39)	G461V	probably damaging	Het
Mepce	A	G	5: 137,783,441 (GRCm39)	L295P	possibly damaging	Het
Mtpap	T	A	18: 4,396,141 (GRCm39)	Y478N	probably damaging	Het
Myl12a	T	C	17: 71,303,231 (GRCm39)	M74V	probably benign	Het
Neil3	A	T	8: 54,062,559 (GRCm39)	M99K	probably damaging	Het
Nlrp3	A	G	11: 59,442,616 (GRCm39)	T723A	possibly damaging	Het
Obscn	A	T	11: 58,892,870 (GRCm39)	I6792N	probably benign	Het
Or13a19	G	T	7: 139,903,027 (GRCm39)	W138C	possibly damaging	Het
Or2d2	A	G	7: 106,728,522 (GRCm39)	L26P	probably benign	Het
Or5al7	A	G	2: 85,993,266 (GRCm39)	V9A	possibly damaging	Het
Or8h10	G	A	2: 86,808,501 (GRCm39)	T213I	probably benign	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pitx2	C	A	3: 129,012,507 (GRCm39)	N312K	probably damaging	Het
Pot1b	C	A	17: 55,999,739 (GRCm39)	V229L	probably benign	Het
Psmd1	A	G	1: 86,006,329 (GRCm39)	I232V	possibly damaging	Het
Rif1	A	G	2: 52,000,935 (GRCm39)	E1463G	probably damaging	Het
Scn5a	T	A	9: 119,368,604 (GRCm39)	Y307F	possibly damaging	Het
Shprh	G	A	10: 11,063,727 (GRCm39)	E1267K	possibly damaging	Het
Smtnl1	A	T	2: 84,645,694 (GRCm39)	Y392*	probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,444,896 (GRCm39)	G2268R	probably benign	Het
Tex47	G	A	5: 7,355,301 (GRCm39)	E161K	probably benign	Het
Timd6	G	T	11: 46,468,082 (GRCm39)	R52L	probably damaging	Het
Tmem236	T	C	2: 14,224,168 (GRCm39)	L319P	probably damaging	Het
Tnk1	T	C	11: 69,742,695 (GRCm39)	T606A	possibly damaging	Het
Tnrc6a	A	G	7: 122,761,794 (GRCm39)	T81A	probably damaging	Het
Trav6d-4	A	T	14: 52,991,092 (GRCm39)	T46S	probably benign	Het
Wdr19	T	A	5: 65,381,210 (GRCm39)	Y411*	probably null	Het
Zfp553	A	G	7: 126,835,476 (GRCm39)	T344A	probably damaging	Het
Zfp62	G	A	11: 49,106,019 (GRCm39)	G37S	probably benign	Het

Other mutations in Or8b49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Or8b49	APN	9	38,506,201 (GRCm39)	missense	probably damaging	0.98
IGL02028:Or8b49	APN	9	38,505,715 (GRCm39)	nonsense	probably null
IGL02256:Or8b49	APN	9	38,505,840 (GRCm39)	missense	probably benign	0.01
IGL03103:Or8b49	APN	9	38,505,823 (GRCm39)	missense	probably damaging	1.00
IGL03297:Or8b49	APN	9	38,505,821 (GRCm39)	missense	probably benign	0.01
R2152:Or8b49	UTSW	9	38,505,707 (GRCm39)	missense	probably damaging	1.00
R2153:Or8b49	UTSW	9	38,505,707 (GRCm39)	missense	probably damaging	1.00
R2154:Or8b49	UTSW	9	38,505,707 (GRCm39)	missense	probably damaging	1.00
R3176:Or8b49	UTSW	9	38,505,939 (GRCm39)	missense	probably damaging	1.00
R3276:Or8b49	UTSW	9	38,505,939 (GRCm39)	missense	probably damaging	1.00
R4985:Or8b49	UTSW	9	38,505,658 (GRCm39)	missense	possibly damaging	0.88
R5043:Or8b49	UTSW	9	38,506,137 (GRCm39)	missense	probably damaging	1.00
R5871:Or8b49	UTSW	9	38,505,628 (GRCm39)	missense	possibly damaging	0.53
R6106:Or8b49	UTSW	9	38,506,252 (GRCm39)	missense	probably benign	0.11
R6583:Or8b49	UTSW	9	38,506,260 (GRCm39)	missense	possibly damaging	0.79
R6823:Or8b49	UTSW	9	38,506,201 (GRCm39)	missense	possibly damaging	0.89
R7472:Or8b49	UTSW	9	38,506,200 (GRCm39)	missense	probably benign	0.10
R7912:Or8b49	UTSW	9	38,506,446 (GRCm39)	missense	probably benign	0.25
R8036:Or8b49	UTSW	9	38,506,186 (GRCm39)	missense	probably benign	0.00
R8182:Or8b49	UTSW	9	38,505,840 (GRCm39)	missense	probably benign	0.01
R8806:Or8b49	UTSW	9	38,506,405 (GRCm39)	missense	probably damaging	1.00
R8886:Or8b49	UTSW	9	38,506,446 (GRCm39)	missense	possibly damaging	0.62
R8928:Or8b49	UTSW	9	38,505,662 (GRCm39)	missense	probably damaging	1.00
R9014:Or8b49	UTSW	9	38,506,123 (GRCm39)	missense	probably damaging	0.99
R9123:Or8b49	UTSW	9	38,506,108 (GRCm39)	missense	probably damaging	0.97
R9125:Or8b49	UTSW	9	38,506,108 (GRCm39)	missense	probably damaging	0.97
R9572:Or8b49	UTSW	9	38,505,627 (GRCm39)	missense	probably benign	0.03
Z1177:Or8b49	UTSW	9	38,505,585 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCTAAATTCTCACCTCCAC -3'
(R):5'- TGGTACAGGAGATTTGCAGC -3'

Sequencing Primer
(F):5'- ACACACCCATGTACTTTCTCTTG -3'
(R):5'- TTTGCAGCAAAGGGAGGAGATC -3'

Posted On

2020-09-02