Mutagenetix > Incidental Mutation

Incidental Mutation 'R7726:Or6b2b'

595471

Institutional Source

Beutler Lab

Gene Symbol

Or6b2b

Ensembl Gene

ENSMUSG00000057464

Gene Name

olfactory receptor family 6 subfamily B member 2B

Synonyms

MOR103-12, GA_x6K02T2R7CC-81266841-81267776, Olfr1415

MMRRC Submission

045782-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92489101-92496101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92491307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 149 (F149L)

Ref Sequence

ENSEMBL: ENSMUSP00000145446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071521] [ENSMUST00000204009] [ENSMUST00000204766]

AlphaFold

Q7TQS4

Predicted Effect

probably benign
Transcript: ENSMUST00000071521
AA Change: F149L

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000084047
Gene: ENSMUSG00000057464
AA Change: F149L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.3e-53	PFAM
Pfam:7tm_1	41	290	1.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204009
AA Change: F149L

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145446
Gene: ENSMUSG00000057464
AA Change: F149L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.3e-53	PFAM
Pfam:7tm_1	41	290	1.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204766

SMART Domains

Protein: ENSMUSP00000144986
Gene: ENSMUSG00000057464

Domain	Start	End	E-Value	Type
Blast:CLECT	1	65	1e-7	BLAST

Meta Mutation Damage Score

0.3480

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	G	8: 43,651,171 (GRCm38)	N479T	probably damaging	Het
Add3	C	G	19: 53,239,461 (GRCm38)	L526V	probably damaging	Het
Alas1	T	C	9: 106,246,951 (GRCm38)	T3A	probably benign	Het
Arap3	C	T	18: 37,989,467 (GRCm38)	D579N	probably damaging	Het
Armc6	C	A	8: 70,222,598 (GRCm38)	D326Y	probably damaging	Het
Atp6v1e2	G	A	17: 86,944,385 (GRCm38)	T195I	probably damaging	Het
Atrnl1	A	G	19: 57,702,072 (GRCm38)	E904G	probably damaging	Het
Bhlhe40	T	A	6: 108,662,598 (GRCm38)	D112E	probably benign	Het
Brf1	T	G	12: 112,964,245 (GRCm38)	K438T	probably benign	Het
Cabs1	A	T	5: 87,980,286 (GRCm38)	E265D	probably damaging	Het
Ccdc162	T	A	10: 41,553,075 (GRCm38)	M1937L	probably benign	Het
Cd55b	A	T	1: 130,411,493 (GRCm38)	S299R	possibly damaging	Het
Chordc1	A	G	9: 18,302,214 (GRCm38)	*120W	probably null	Het
Col17a1	C	A	19: 47,655,190 (GRCm38)		probably null	Het
Cpne8	A	T	15: 90,501,418 (GRCm38)	I469K	possibly damaging	Het
Crtac1	G	T	19: 42,302,251 (GRCm38)	S337*	probably null	Het
Cx3cl1	T	C	8: 94,780,239 (GRCm38)	S291P	probably damaging	Het
Dhx36	G	T	3: 62,488,968 (GRCm38)	Q423K	probably benign	Het
Eif3h	G	T	15: 51,786,823 (GRCm38)	Q322K	possibly damaging	Het
Ero1b	A	G	13: 12,605,833 (GRCm38)	*494W	probably null	Het
Exph5	G	A	9: 53,373,175 (GRCm38)	V519I	possibly damaging	Het
Fam184a	C	A	10: 53,633,706 (GRCm38)	E126*	probably null	Het
Fam222b	A	G	11: 78,153,751 (GRCm38)	D46G	probably damaging	Het
Fbxl6	C	A	15: 76,535,886 (GRCm38)	R509L	probably damaging	Het
Fgf14	T	C	14: 124,136,244 (GRCm38)	Y86C	probably damaging	Het
Fras1	A	T	5: 96,712,451 (GRCm38)	I2119F	probably benign	Het
Gpr37	G	A	6: 25,669,117 (GRCm38)	T576I	possibly damaging	Het
Hnrnpul2	G	T	19: 8,831,280 (GRCm38)	R702L	possibly damaging	Het
Iqgap1	T	C	7: 80,757,456 (GRCm38)	N342S	probably benign	Het
Kcnh6	T	C	11: 106,017,575 (GRCm38)	V339A	probably benign	Het
Klk1b9	A	T	7: 43,978,416 (GRCm38)	N46I	possibly damaging	Het
Kndc1	C	A	7: 139,939,838 (GRCm38)	S1703R	possibly damaging	Het
Lyn	C	A	4: 3,756,428 (GRCm38)	Y306*	probably null	Het
Manba	C	T	3: 135,518,009 (GRCm38)	T219M	probably benign	Het
Mastl	T	C	2: 23,140,795 (GRCm38)		probably null	Het
Med15	T	G	16: 17,655,174 (GRCm38)	M550L	possibly damaging	Het
Men1	G	A	19: 6,337,282 (GRCm38)		probably null	Het
Msh4	C	T	3: 153,866,320 (GRCm38)		probably null	Het
Myh6	G	T	14: 54,965,365 (GRCm38)	D32E	probably damaging	Het
Ntmt2	A	G	1: 163,703,184 (GRCm38)	C229R	probably benign	Het
Ntn4	A	G	10: 93,733,682 (GRCm38)	D419G	possibly damaging	Het
Nup155	C	T	15: 8,122,139 (GRCm38)	P393S	probably damaging	Het
Or2y1d	T	A	11: 49,430,900 (GRCm38)	C141*	probably null	Het
Palm2	C	T	4: 57,709,876 (GRCm38)	P274S	probably damaging	Het
Papss2	A	T	19: 32,634,003 (GRCm38)		probably null	Het
Pcdhgc3	T	C	18: 37,806,879 (GRCm38)	V111A	possibly damaging	Het
Pcnx2	C	T	8: 125,850,330 (GRCm38)	V988I	probably benign	Het
Pom121	C	T	5: 135,378,148 (GRCm38)	G1178S	probably damaging	Het
Prss33	A	G	17: 23,834,229 (GRCm38)	C213R	probably damaging	Het
Scap	G	A	9: 110,378,367 (GRCm38)		probably null	Het
Shfl	T	C	9: 20,873,165 (GRCm38)	Y182H	possibly damaging	Het
Sirpb1c	T	A	3: 15,848,386 (GRCm38)	I10F	possibly damaging	Het
Slc28a2b	A	G	2: 122,486,733 (GRCm38)	E25G	probably damaging	Het
Spata31e2	C	A	1: 26,684,498 (GRCm38)	A534S	probably benign	Het
Spink5	T	C	18: 43,963,352 (GRCm38)	L16P	probably damaging	Het
Sting1	C	T	18: 35,735,265 (GRCm38)	A261T	probably damaging	Het
Stk4	T	G	2: 164,110,226 (GRCm38)	M1R	probably null	Het
Stub1	A	T	17: 25,831,132 (GRCm38)	Y253*	probably null	Het
Tasor	C	A	14: 27,447,497 (GRCm38)	N338K	probably damaging	Het
Tbce	A	G	13: 14,029,290 (GRCm38)	V29A	probably damaging	Het
Tchhl1	A	G	3: 93,471,758 (GRCm38)	R590G	probably benign	Het
Ubr4	C	T	4: 139,458,920 (GRCm38)	P613L	unknown	Het
Vmn2r3	G	T	3: 64,275,518 (GRCm38)	C253*	probably null	Het
Wfdc8	C	A	2: 164,599,986 (GRCm38)	E215D	possibly damaging	Het
Zfp874b	T	C	13: 67,473,856 (GRCm38)	D441G	probably benign	Het
Zscan4d	G	T	7: 11,165,242 (GRCm38)	P36Q	possibly damaging	Het

Other mutations in Or6b2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03066:Or6b2b	APN	1	92,491,583 (GRCm38)	missense	probably damaging	1.00
R0538:Or6b2b	UTSW	1	92,491,333 (GRCm38)	missense	possibly damaging	0.77
R0924:Or6b2b	UTSW	1	92,491,405 (GRCm38)	missense	possibly damaging	0.95
R0930:Or6b2b	UTSW	1	92,491,405 (GRCm38)	missense	possibly damaging	0.95
R1025:Or6b2b	UTSW	1	92,491,723 (GRCm38)	missense	probably benign	0.19
R1201:Or6b2b	UTSW	1	92,491,153 (GRCm38)	missense	probably benign	0.04
R1413:Or6b2b	UTSW	1	92,490,888 (GRCm38)	missense	probably damaging	1.00
R1510:Or6b2b	UTSW	1	92,491,617 (GRCm38)	missense	probably damaging	1.00
R1846:Or6b2b	UTSW	1	92,491,100 (GRCm38)	nonsense	probably null
R1850:Or6b2b	UTSW	1	92,491,402 (GRCm38)	missense	possibly damaging	0.89
R1940:Or6b2b	UTSW	1	92,491,735 (GRCm38)	missense	probably benign	0.14
R2760:Or6b2b	UTSW	1	92,491,080 (GRCm38)	missense	probably damaging	0.99
R4066:Or6b2b	UTSW	1	92,491,189 (GRCm38)	missense	probably damaging	1.00
R4837:Or6b2b	UTSW	1	92,490,975 (GRCm38)	missense	probably benign	0.39
R5310:Or6b2b	UTSW	1	92,491,036 (GRCm38)	missense	probably damaging	1.00
R5503:Or6b2b	UTSW	1	92,491,196 (GRCm38)	missense	probably benign	0.07
R5748:Or6b2b	UTSW	1	92,491,093 (GRCm38)	missense	probably damaging	0.99
R5760:Or6b2b	UTSW	1	92,491,200 (GRCm38)	missense	possibly damaging	0.95
R5853:Or6b2b	UTSW	1	92,491,717 (GRCm38)	missense	probably benign	0.00
R5926:Or6b2b	UTSW	1	92,491,566 (GRCm38)	missense	probably damaging	1.00
R6199:Or6b2b	UTSW	1	92,491,542 (GRCm38)	missense	possibly damaging	0.89
R7585:Or6b2b	UTSW	1	92,491,320 (GRCm38)	missense	probably benign	0.10
R7627:Or6b2b	UTSW	1	92,491,385 (GRCm38)	nonsense	probably null
R8011:Or6b2b	UTSW	1	92,491,275 (GRCm38)	missense	possibly damaging	0.60
R8306:Or6b2b	UTSW	1	92,491,525 (GRCm38)	missense	possibly damaging	0.64
R9142:Or6b2b	UTSW	1	92,491,689 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACCAGAATGATGAAGGCC -3'
(R):5'- GACATCATCCCCAAAATGCTGG -3'

Sequencing Primer
(F):5'- TGATGAAGGCCAGGATGAAGTC -3'
(R):5'- CCAAAATGCTGGATGGCTTC -3'

Posted On

2019-11-12