Mutagenetix > Incidental Mutation

Incidental Mutation 'R5694:Or8b1'

443825

Institutional Source

Beutler Lab

Gene Symbol

Or8b1

Ensembl Gene

ENSMUSG00000039962

Gene Name

olfactory receptor family 8 subfamily B member 1

Synonyms

Olfr906, GA_x6K02T2PVTD-32194085-32195020, MOR167-2

MMRRC Submission

043325-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38399327-38400262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38399532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 69 (I69K)

Ref Sequence

ENSEMBL: ENSMUSP00000151008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045493] [ENSMUST00000214344]

AlphaFold

K7N5P3

Predicted Effect

probably damaging
Transcript: ENSMUST00000045493
AA Change: I69K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039040
Gene: ENSMUSG00000039962
AA Change: I69K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.6e-50	PFAM
Pfam:7tm_1	41	290	2.1e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214344
AA Change: I69K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,546,673 (GRCm39)	I1353N	probably damaging	Het
Actr1a	C	A	19: 46,384,157 (GRCm39)		probably benign	Het
Adamts14	A	T	10: 61,065,431 (GRCm39)	M356K	probably benign	Het
Adamtsl2	A	G	2: 26,971,736 (GRCm39)	H7R	probably benign	Het
Angptl2	T	C	2: 33,118,628 (GRCm39)	V134A	probably damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Astn2	T	C	4: 65,868,375 (GRCm39)	D488G	probably damaging	Het
Cat	A	T	2: 103,303,339 (GRCm39)	V146E	probably damaging	Het
Dmxl1	T	C	18: 50,027,324 (GRCm39)	V2144A	probably damaging	Het
Efcab5	T	G	11: 77,079,701 (GRCm39)	D15A	probably benign	Het
Epha10	C	T	4: 124,796,446 (GRCm39)	A385V	unknown	Het
Erg	C	A	16: 95,161,890 (GRCm39)	E388D	probably benign	Het
Fbxo10	T	A	4: 45,035,970 (GRCm39)	I931F	probably damaging	Het
Frem1	A	G	4: 82,912,353 (GRCm39)	L673P	probably damaging	Het
Gm4922	A	C	10: 18,660,035 (GRCm39)	I229S	possibly damaging	Het
Gnptab	T	A	10: 88,250,348 (GRCm39)	D153E	probably benign	Het
Htr7	T	C	19: 36,034,521 (GRCm39)	M45V	probably benign	Het
Hycc1	C	A	5: 24,196,794 (GRCm39)	L31F	probably damaging	Het
Igkv4-51	C	T	6: 69,658,911 (GRCm39)	V5M	probably damaging	Het
Ints7	G	A	1: 191,318,730 (GRCm39)	E156K	probably damaging	Het
Map3k21	A	G	8: 126,671,507 (GRCm39)	T932A	probably benign	Het
Mapk1	T	G	16: 16,836,333 (GRCm39)	D160E	probably benign	Het
Mast4	A	T	13: 102,910,701 (GRCm39)	Y479*	probably null	Het
Meig1	T	A	2: 3,412,999 (GRCm39)	K7N	probably damaging	Het
Mthfd1l	T	A	10: 3,985,239 (GRCm39)	D548E	possibly damaging	Het
Myo16	A	G	8: 10,619,606 (GRCm39)	R1386G	probably benign	Het
Nphs2	T	C	1: 156,153,607 (GRCm39)	S353P	probably benign	Het
Or12j4	T	C	7: 140,046,644 (GRCm39)	F177L	probably benign	Het
Pcdha9	G	T	18: 37,131,425 (GRCm39)	V165L	probably benign	Het
Pde3a	T	A	6: 141,196,228 (GRCm39)	S305T	possibly damaging	Het
Phf14	C	A	6: 11,990,124 (GRCm39)	L718I	possibly damaging	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Rab44	T	A	17: 29,364,940 (GRCm39)	M645K	unknown	Het
Rab44	T	C	17: 29,359,474 (GRCm39)	L554P	probably damaging	Het
Rnf222	A	G	11: 68,783,723 (GRCm39)	T97A	probably benign	Het
Rnpepl1	T	C	1: 92,846,663 (GRCm39)	S522P	probably benign	Het
Serinc5	A	G	13: 92,825,302 (GRCm39)	I244V	probably benign	Het
Serpinb10	A	T	1: 107,463,187 (GRCm39)		probably null	Het
Siglech	T	A	7: 55,418,404 (GRCm39)	F124Y	probably damaging	Het
Smarcc2	A	T	10: 128,319,996 (GRCm39)	I790L	probably benign	Het
Sos2	C	A	12: 69,637,689 (GRCm39)	R1007S	probably damaging	Het
Stk4	C	T	2: 163,942,484 (GRCm39)	T372M	possibly damaging	Het
Tbc1d10c	A	T	19: 4,234,963 (GRCm39)	L366H	probably damaging	Het
Tor4a	T	C	2: 25,084,932 (GRCm39)	T324A	probably benign	Het
Trim12a	C	A	7: 103,956,450 (GRCm39)	C30F	probably damaging	Het
Ttll3	G	A	6: 113,376,669 (GRCm39)	V350M	probably damaging	Het
Uggt1	A	T	1: 36,218,737 (GRCm39)	D63E	probably damaging	Het
Unc5b	G	A	10: 60,609,526 (GRCm39)	T590I	probably benign	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wls	A	C	3: 159,545,624 (GRCm39)	I16L	probably benign	Het
Zfp101	T	C	17: 33,599,919 (GRCm39)	I612M	probably benign	Het
Zfp677	C	A	17: 21,618,021 (GRCm39)	D359E	probably damaging	Het

Other mutations in Or8b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03127:Or8b1	APN	9	38,399,882 (GRCm39)	missense	probably benign	0.13
R0948:Or8b1	UTSW	9	38,400,244 (GRCm39)	missense	probably benign	0.00
R1236:Or8b1	UTSW	9	38,399,525 (GRCm39)	missense	probably damaging	1.00
R1246:Or8b1	UTSW	9	38,400,086 (GRCm39)	missense	probably damaging	1.00
R1442:Or8b1	UTSW	9	38,399,939 (GRCm39)	missense	probably benign	0.10
R2016:Or8b1	UTSW	9	38,399,309 (GRCm39)	critical splice acceptor site	probably null
R2264:Or8b1	UTSW	9	38,399,351 (GRCm39)	missense	possibly damaging	0.50
R2268:Or8b1	UTSW	9	38,399,504 (GRCm39)	missense	probably damaging	1.00
R3853:Or8b1	UTSW	9	38,400,247 (GRCm39)	missense	probably benign	0.18
R4066:Or8b1	UTSW	9	38,399,778 (GRCm39)	missense	probably benign	0.17
R4594:Or8b1	UTSW	9	38,400,057 (GRCm39)	missense	probably damaging	0.98
R5192:Or8b1	UTSW	9	38,400,101 (GRCm39)	missense	possibly damaging	0.69
R5436:Or8b1	UTSW	9	38,399,835 (GRCm39)	missense	probably benign	0.31
R5598:Or8b1	UTSW	9	38,399,821 (GRCm39)	missense	possibly damaging	0.77
R5914:Or8b1	UTSW	9	38,399,657 (GRCm39)	missense	probably damaging	1.00
R5959:Or8b1	UTSW	9	38,400,207 (GRCm39)	missense	probably damaging	1.00
R6318:Or8b1	UTSW	9	38,399,673 (GRCm39)	missense	probably benign
R6870:Or8b1	UTSW	9	38,399,382 (GRCm39)	missense	probably benign	0.19
R7482:Or8b1	UTSW	9	38,399,747 (GRCm39)	missense	probably damaging	0.99
R7571:Or8b1	UTSW	9	38,399,952 (GRCm39)	missense	probably benign	0.08
R7917:Or8b1	UTSW	9	38,399,905 (GRCm39)	nonsense	probably null
R8837:Or8b1	UTSW	9	38,399,597 (GRCm39)	missense	probably benign	0.05
R9562:Or8b1	UTSW	9	38,400,092 (GRCm39)	missense	possibly damaging	0.45
R9628:Or8b1	UTSW	9	38,399,871 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CCAATAGAAAAGAATGGCTTTCGG -3'
(R):5'- TAAGAGTGGATTACAGATGGCTAC -3'

Sequencing Primer
(F):5'- GAATGGCTTTCGGAAATAGGTC -3'
(R):5'- GCTACATAGCGATCATAGGCCATTG -3'

Posted On

2016-11-09