Mutagenetix > Incidental Mutation

Incidental Mutation 'R6477:Or56b1'

516844

Institutional Source

Beutler Lab

Gene Symbol

Or56b1

Ensembl Gene

ENSMUSG00000073923

Gene Name

olfactory receptor family 56 subfamily B member 1

Synonyms

MOR40-13, GA_x6K02T2PBJ9-7263864-7264823, Olfr657

MMRRC Submission

044609-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R6477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104284883-104285842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104284886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2 (S2P)

Ref Sequence

ENSEMBL: ENSMUSP00000150070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098171] [ENSMUST00000213297] [ENSMUST00000215454]

AlphaFold

Q7TRP7

Predicted Effect

probably benign
Transcript: ENSMUST00000098171
AA Change: S2P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095773
Gene: ENSMUSG00000073923
AA Change: S2P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	315	6.2e-74	PFAM
Pfam:7TM_GPCR_Srsx	40	312	1.2e-8	PFAM
Pfam:7tm_1	47	297	9.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213297
AA Change: S2P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000215454
AA Change: S2P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.1%

Validation Efficiency

97% (60/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,909,696 (GRCm39)	D23G	probably benign	Het
Abca14	T	C	7: 119,924,325 (GRCm39)	I1659T	probably benign	Het
Ankdd1a	C	T	9: 65,409,494 (GRCm39)	V481M	probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Cfap161	T	A	7: 83,443,230 (GRCm39)	R20*	probably null	Het
Cops7a	A	T	6: 124,937,139 (GRCm39)	V184E	probably damaging	Het
Cpa3	T	C	3: 20,293,739 (GRCm39)	E83G	possibly damaging	Het
Crls1	C	T	2: 132,703,153 (GRCm39)	S201L	probably benign	Het
Cyp4f39	C	A	17: 32,700,791 (GRCm39)	S153R	probably damaging	Het
Ddx54	T	A	5: 120,759,843 (GRCm39)	I410N	probably damaging	Het
Dido1	T	A	2: 180,302,274 (GRCm39)	T1877S	probably benign	Het
Dip2c	A	G	13: 9,673,796 (GRCm39)	S1079G	probably damaging	Het
Dnhd1	G	A	7: 105,327,093 (GRCm39)	V681I	probably benign	Het
Dst	A	G	1: 34,247,809 (GRCm39)		probably null	Het
Eya2	A	G	2: 165,605,681 (GRCm39)	T362A	probably benign	Het
Garre1	A	G	7: 33,957,055 (GRCm39)		probably null	Het
Hgs	G	A	11: 120,360,481 (GRCm39)	V60M	probably damaging	Het
Inpp4b	A	G	8: 82,571,343 (GRCm39)		probably null	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Kdr	C	A	5: 76,129,501 (GRCm39)	A129S	probably benign	Het
Lhcgr	A	T	17: 89,049,801 (GRCm39)	M575K	probably damaging	Het
Lsamp	G	T	16: 41,988,528 (GRCm39)		probably benign	Het
Mcm5	T	C	8: 75,839,230 (GRCm39)	V161A	probably benign	Het
Mmp14	A	T	14: 54,675,115 (GRCm39)	H249L	probably damaging	Het
Mroh5	A	G	15: 73,662,604 (GRCm39)	S405P	probably damaging	Het
Mroh9	C	A	1: 162,903,873 (GRCm39)	L46F	probably damaging	Het
Mtrr	A	T	13: 68,718,192 (GRCm39)	H357Q	probably damaging	Het
Myrf	G	A	19: 10,206,149 (GRCm39)	P89L	probably benign	Het
Mzb1	C	T	18: 35,781,311 (GRCm39)		probably null	Het
Naip6	A	G	13: 100,452,516 (GRCm39)	S182P	probably damaging	Het
Nmur2	A	T	11: 55,920,417 (GRCm39)	F276Y	probably damaging	Het
Nudt12	G	T	17: 59,318,140 (GRCm39)	S35Y	probably benign	Het
Or51h5	T	A	7: 102,577,585 (GRCm39)	V250E	probably damaging	Het
Or9m1	A	G	2: 87,733,334 (GRCm39)	S229P	probably damaging	Het
Osbpl1a	T	C	18: 12,889,318 (GRCm39)	I541V	probably benign	Het
Parp4	A	G	14: 56,884,694 (GRCm39)	K1258E	probably benign	Het
Plcxd2	C	G	16: 45,801,022 (GRCm39)	K67N	probably damaging	Het
Pnpla6	A	G	8: 3,586,627 (GRCm39)	T930A	probably benign	Het
Pomt1	G	A	2: 32,138,728 (GRCm39)		probably null	Het
Ppp1r14bl	A	T	1: 23,140,861 (GRCm39)	L151Q	probably benign	Het
Pramel6	A	G	2: 87,340,946 (GRCm39)	Y426C	possibly damaging	Het
Prss27	A	G	17: 24,263,235 (GRCm39)	T83A	probably damaging	Het
Rbm27	T	A	18: 42,466,383 (GRCm39)	V915E	probably damaging	Het
Rnf114	T	A	2: 167,345,408 (GRCm39)	D10E	probably benign	Het
Sbk1	A	G	7: 125,890,350 (GRCm39)	E121G	probably damaging	Het
Senp6	A	T	9: 80,000,907 (GRCm39)	R39*	probably null	Het
Sergef	A	T	7: 46,283,250 (GRCm39)	I94N	probably benign	Het
Slc30a9	C	T	5: 67,485,867 (GRCm39)	R183W	probably benign	Het
Smurf1	C	T	5: 144,826,602 (GRCm39)	R414H	possibly damaging	Het
Sptb	A	T	12: 76,653,166 (GRCm39)	W1566R	probably damaging	Het
Tenm2	T	C	11: 35,901,334 (GRCm39)		probably null	Het
Tnni1	T	C	1: 135,733,304 (GRCm39)	V42A	probably benign	Het
Tnxb	A	G	17: 34,938,513 (GRCm39)	Y3098C	probably damaging	Het
Ubald2	T	C	11: 116,325,400 (GRCm39)	F46L	probably benign	Het
Ubqln5	G	A	7: 103,777,465 (GRCm39)	S453F	probably damaging	Het
Ubr3	A	T	2: 69,809,773 (GRCm39)	R1248*	probably null	Het
Utp20	A	G	10: 88,604,780 (GRCm39)	V1705A	probably benign	Het
Zfp60	G	A	7: 27,449,228 (GRCm39)	R632H	probably benign	Het
Zfp638	A	G	6: 83,942,560 (GRCm39)	Y957C	probably damaging	Het
Zfp825	A	T	13: 74,629,029 (GRCm39)	S162R	possibly damaging	Het
Zfp831	A	C	2: 174,545,960 (GRCm39)	K1355T	probably benign	Het

Other mutations in Or56b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01791:Or56b1	APN	7	104,285,682 (GRCm39)	missense	possibly damaging	0.75
IGL01815:Or56b1	APN	7	104,285,552 (GRCm39)	missense	probably damaging	0.99
IGL01831:Or56b1	APN	7	104,285,267 (GRCm39)	missense	probably damaging	0.99
IGL02285:Or56b1	APN	7	104,284,932 (GRCm39)	missense	probably benign	0.06
R1529:Or56b1	UTSW	7	104,285,696 (GRCm39)	missense	probably benign	0.01
R1775:Or56b1	UTSW	7	104,285,366 (GRCm39)	missense	probably benign	0.01
R2356:Or56b1	UTSW	7	104,285,834 (GRCm39)	nonsense	probably null
R3809:Or56b1	UTSW	7	104,285,540 (GRCm39)	missense	possibly damaging	0.76
R4011:Or56b1	UTSW	7	104,285,555 (GRCm39)	missense	probably benign
R4206:Or56b1	UTSW	7	104,285,356 (GRCm39)	missense	possibly damaging	0.52
R4520:Or56b1	UTSW	7	104,285,376 (GRCm39)	missense	probably damaging	0.99
R4551:Or56b1	UTSW	7	104,285,631 (GRCm39)	missense	probably damaging	1.00
R6394:Or56b1	UTSW	7	104,285,234 (GRCm39)	missense	possibly damaging	0.78
R6394:Or56b1	UTSW	7	104,284,909 (GRCm39)	missense	possibly damaging	0.59
R6727:Or56b1	UTSW	7	104,285,094 (GRCm39)	missense	probably damaging	0.99
R7554:Or56b1	UTSW	7	104,285,733 (GRCm39)	missense	probably benign
R8435:Or56b1	UTSW	7	104,285,657 (GRCm39)	missense	probably benign	0.17
R8557:Or56b1	UTSW	7	104,285,103 (GRCm39)	missense	possibly damaging	0.46
R9021:Or56b1	UTSW	7	104,285,291 (GRCm39)	missense	probably benign	0.01
R9023:Or56b1	UTSW	7	104,285,291 (GRCm39)	missense	probably benign	0.01
R9024:Or56b1	UTSW	7	104,285,291 (GRCm39)	missense	probably benign	0.01
R9072:Or56b1	UTSW	7	104,285,291 (GRCm39)	missense	probably benign	0.01
R9072:Or56b1	UTSW	7	104,285,291 (GRCm39)	missense	probably benign	0.01
R9073:Or56b1	UTSW	7	104,285,291 (GRCm39)	missense	probably benign	0.01
R9074:Or56b1	UTSW	7	104,285,291 (GRCm39)	missense	probably benign	0.01
R9076:Or56b1	UTSW	7	104,285,291 (GRCm39)	missense	probably benign	0.01
R9077:Or56b1	UTSW	7	104,285,618 (GRCm39)	missense	probably damaging	1.00
R9077:Or56b1	UTSW	7	104,285,291 (GRCm39)	missense	probably benign	0.01
X0065:Or56b1	UTSW	7	104,285,401 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GTGTTTCAATATGAGAACTGTGCC -3'
(R):5'- TGCTTCAGAGAAGGATCCTGAC -3'

Sequencing Primer
(F):5'- GCTTTTTGAATAAAGATGTGGT -3'
(R):5'- CTTCAGAGAAGGATCCTGACAGATG -3'

Posted On

2018-05-21