Mutagenetix > Incidental Mutation

Incidental Mutation 'R9264:Or1b1'

702406

Institutional Source

Beutler Lab

Gene Symbol

Or1b1

Ensembl Gene

ENSMUSG00000075377

Gene Name

olfactory receptor family 1 subfamily B member 1

Synonyms

Olfr362, GA_x6K02T2NLDC-33797415-33796462, MOR158-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R9264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36994707-36995660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36994801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 287 (T287I)

Ref Sequence

ENSEMBL: ENSMUSP00000150819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100144] [ENSMUST00000213817] [ENSMUST00000215927]

AlphaFold

Q8VGV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000100144
AA Change: T287I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097722
Gene: ENSMUSG00000075377
AA Change: T287I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	313	6.3e-50	PFAM
Pfam:7TM_GPCR_Srsx	36	164	1.6e-7	PFAM
Pfam:7tm_1	42	295	1.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213817
AA Change: T287I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215927
AA Change: T287I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,001,056 (GRCm39)	I1531L	probably benign	Het
Adam28	T	C	14: 68,844,914 (GRCm39)	Y791C	probably benign	Het
Ankrd40	T	A	11: 94,229,187 (GRCm39)	I262N	probably damaging	Het
Catsperg2	A	T	7: 29,397,613 (GRCm39)	N1033K	possibly damaging	Het
Cdh10	A	T	15: 18,964,081 (GRCm39)	D81V	probably damaging	Het
Cep290	T	C	10: 100,333,878 (GRCm39)	V310A	possibly damaging	Het
Cep78	T	C	19: 15,951,830 (GRCm39)	Y325C	probably damaging	Het
Clstn3	T	A	6: 124,436,727 (GRCm39)	D197V	probably damaging	Het
Col11a1	T	C	3: 114,005,809 (GRCm39)	I1647T	unknown	Het
Col5a1	G	A	2: 27,854,123 (GRCm39)	R569K	unknown	Het
Cspg4b	G	A	13: 113,456,014 (GRCm39)	V687M		Het
Cyp4a10	T	C	4: 115,381,475 (GRCm39)	S180P	probably benign	Het
D630045J12Rik	T	C	6: 38,135,173 (GRCm39)	I1336V	probably benign	Het
Dchs2	G	A	3: 83,177,784 (GRCm39)	V946M	probably damaging	Het
Dnah10	A	G	5: 124,813,900 (GRCm39)	R347G	probably damaging	Het
Dnah11	T	A	12: 117,991,262 (GRCm39)	D2368V	probably damaging	Het
Ganab	T	C	19: 8,890,228 (GRCm39)	I719T	possibly damaging	Het
Gm10944	C	A	10: 10,557,583 (GRCm39)	A11D	unknown	Het
Gmcl1	T	C	6: 86,691,195 (GRCm39)	M267V	probably benign	Het
Inhbe	T	A	10: 127,186,427 (GRCm39)	D251V	probably damaging	Het
Kcnj1	G	A	9: 32,307,654 (GRCm39)	R26Q	probably benign	Het
Lama5	A	G	2: 179,838,271 (GRCm39)		probably benign	Het
Lin9	T	A	1: 180,494,912 (GRCm39)	D251E	probably damaging	Het
Magel2	T	A	7: 62,028,344 (GRCm39)	I416N	possibly damaging	Het
Mdga2	T	C	12: 66,560,057 (GRCm39)	N772S	probably damaging	Het
Ms4a20	T	A	19: 11,093,830 (GRCm39)	M1L	probably benign	Het
Msh3	G	T	13: 92,485,812 (GRCm39)	Q171K	probably benign	Het
Mslnl	T	G	17: 25,961,506 (GRCm39)		probably benign	Het
Mtpn	A	G	6: 35,489,176 (GRCm39)	L116P	possibly damaging	Het
Myh7	T	C	14: 55,213,454 (GRCm39)	T1351A	probably benign	Het
Nectin3	A	T	16: 46,274,998 (GRCm39)	I353N	probably damaging	Het
Nprl3	A	T	11: 32,183,948 (GRCm39)	N500K	probably benign	Het
Nup93	T	A	8: 95,019,348 (GRCm39)	I181N	probably benign	Het
Optc	T	C	1: 133,832,978 (GRCm39)	I41V	probably benign	Het
Or4p23	T	C	2: 88,576,776 (GRCm39)	H152R	probably damaging	Het
Pcdh7	C	A	5: 58,286,663 (GRCm39)	N1246K	probably benign	Het
Pcdhb3	T	A	18: 37,435,166 (GRCm39)	D377E	probably benign	Het
Pnpla6	C	T	8: 3,573,294 (GRCm39)	P386L	probably benign	Het
Polr3a	T	C	14: 24,520,899 (GRCm39)	T587A	probably benign	Het
Pramel1	T	G	4: 143,125,099 (GRCm39)	L341R	probably damaging	Het
Rhot2	A	T	17: 26,060,740 (GRCm39)	N210K	probably damaging	Het
Slc37a1	A	G	17: 31,519,459 (GRCm39)	I12V	probably benign	Het
Spmip7	T	A	11: 11,414,678 (GRCm39)	D141E		Het
Sstr3	G	T	15: 78,423,792 (GRCm39)	N318K	probably damaging	Het
Ssx2ip	T	C	3: 146,142,955 (GRCm39)	V511A	probably benign	Het
Stfa1	G	A	16: 36,100,930 (GRCm39)	V57I	unknown	Het
Syne1	T	G	10: 5,212,793 (GRCm39)	R3265S	probably damaging	Het
Tacc2	G	T	7: 130,228,533 (GRCm39)	K1739N	probably damaging	Het
Tas2r143	A	T	6: 42,377,673 (GRCm39)	M168L	probably benign	Het
Tm4sf1	A	T	3: 57,202,031 (GRCm39)		probably null	Het
Ttc16	A	G	2: 32,653,017 (GRCm39)	I604T	possibly damaging	Het
Ugt1a10	T	A	1: 87,983,393 (GRCm39)	W64R	possibly damaging	Het
Usp34	A	T	11: 23,439,064 (GRCm39)	H3561L		Het
Vasp	C	T	7: 18,993,376 (GRCm39)	V276I	unknown	Het
Vwa3a	A	G	7: 120,374,687 (GRCm39)	N333S	probably benign	Het
Wipf3	A	G	6: 54,460,866 (GRCm39)	N105D	probably benign	Het
Zfp760	T	C	17: 21,942,663 (GRCm39)	S613P	possibly damaging	Het

Other mutations in Or1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02032:Or1b1	APN	2	36,994,773 (GRCm39)	missense	probably damaging	1.00
IGL02141:Or1b1	APN	2	36,995,437 (GRCm39)	missense	probably benign	0.00
IGL02444:Or1b1	APN	2	36,994,786 (GRCm39)	missense	probably damaging	0.99
IGL02453:Or1b1	APN	2	36,995,209 (GRCm39)	missense	probably benign	0.22
R0699:Or1b1	UTSW	2	36,995,074 (GRCm39)	missense	possibly damaging	0.92
R1053:Or1b1	UTSW	2	36,995,476 (GRCm39)	missense	probably damaging	1.00
R1387:Or1b1	UTSW	2	36,994,880 (GRCm39)	missense	probably benign	0.24
R4914:Or1b1	UTSW	2	36,995,170 (GRCm39)	missense	possibly damaging	0.67
R4918:Or1b1	UTSW	2	36,995,170 (GRCm39)	missense	possibly damaging	0.67
R5009:Or1b1	UTSW	2	36,995,467 (GRCm39)	missense	possibly damaging	0.92
R5114:Or1b1	UTSW	2	36,994,814 (GRCm39)	missense	probably damaging	1.00
R5301:Or1b1	UTSW	2	36,995,210 (GRCm39)	missense	probably benign	0.01
R7322:Or1b1	UTSW	2	36,995,603 (GRCm39)	missense	probably null	0.00
R7440:Or1b1	UTSW	2	36,995,181 (GRCm39)	missense	possibly damaging	0.85
R7583:Or1b1	UTSW	2	36,995,539 (GRCm39)	nonsense	probably null
R8892:Or1b1	UTSW	2	36,995,523 (GRCm39)	missense	probably damaging	1.00
Z1176:Or1b1	UTSW	2	36,995,648 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCCAAGTTAGGAGCAGCTTC -3'
(R):5'- TGGGATCACCATCTTACGATTGC -3'

Sequencing Primer
(F):5'- CCAAGTTAGGAGCAGCTTCAGTTC -3'
(R):5'- ACGATTGCCTTCAGCTGCTG -3'

Posted On

2022-03-25