Mutagenetix > Incidental Mutation

Incidental Mutation 'R9076:Or56b1'

689794

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

068897-MU

Accession Numbers

Essential gene?

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

Stock #

R9076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104284883-104285842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104285291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 137 (R137C)

Ref Sequence

ENSEMBL: ENSMUSP00000150620 (fasta)

Gene Model

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

AlphaFold

Q7TRP7

Predicted Effect

probably benign
Transcript: ENSMUST00000098171
AA Change: R137C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000095773
Gene: ENSMUSG00000073923
AA Change: R137C

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: R137C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000215454
AA Change: R137C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.2537

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (67/68)

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
Adcy7	G	A	8: 89,054,336 (GRCm39)	G1064R	probably damaging	Het
Adcy9	A	G	16: 4,106,687 (GRCm39)	V1046A	probably damaging	Het
Adgrv1	C	T	13: 81,570,247 (GRCm39)		probably null	Het
Apbb2	A	C	5: 66,469,507 (GRCm39)	L554W	probably damaging	Het
Arhgef10	C	T	8: 15,024,993 (GRCm39)	P722S	probably damaging	Het
B3galt9	A	T	2: 34,729,209 (GRCm39)	Y336F	probably damaging	Het
Capns1	A	C	7: 29,893,510 (GRCm39)	M1R	probably null	Het
Chst1	C	T	2: 92,443,761 (GRCm39)	Q78*	probably null	Het
Clec12b	A	G	6: 129,356,580 (GRCm39)	S195P	possibly damaging	Het
Cog8	C	T	8: 107,779,208 (GRCm39)	M356I	probably damaging	Het
Cyp4b1	T	C	4: 115,482,424 (GRCm39)	N452D	probably damaging	Het
Defb40	A	T	8: 19,024,994 (GRCm39)	Y71N	probably benign	Het
Dhx8	G	T	11: 101,629,021 (GRCm39)	R190L		Het
Disp1	G	A	1: 182,868,799 (GRCm39)	T1207M	possibly damaging	Het
Dnah9	T	A	11: 66,008,464 (GRCm39)	Y787F	probably benign	Het
Egflam	T	C	15: 7,237,155 (GRCm39)	N1010D	probably damaging	Het
Fam151a	T	A	4: 106,603,254 (GRCm39)	Y272N	probably damaging	Het
Fat1	T	C	8: 45,492,938 (GRCm39)	Y3887H	probably damaging	Het
Fpr3	T	A	17: 18,191,725 (GRCm39)	I332N	probably benign	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Fv1	T	C	4: 147,953,628 (GRCm39)	Y65H	possibly damaging	Het
Gabra6	G	A	11: 42,198,289 (GRCm39)	A387V	probably benign	Het
Gna11	T	C	10: 81,366,715 (GRCm39)	T332A		Het
Gpr161	T	A	1: 165,133,757 (GRCm39)	H6Q	possibly damaging	Het
Grin2b	CA	C	6: 135,709,509 (GRCm39)		probably null	Het
Heatr3	A	T	8: 88,876,827 (GRCm39)	M290L	probably benign	Het
Ifi47	T	G	11: 48,986,842 (GRCm39)	I203R	probably benign	Het
Ighv5-8	TATACAT	TAT	12: 113,618,583 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,337,962 (GRCm39)	M234V	possibly damaging	Het
Klra4	A	G	6: 130,039,107 (GRCm39)	I95T	possibly damaging	Het
Krt84	A	G	15: 101,438,098 (GRCm39)	F286L	probably damaging	Het
Lrp2	A	G	2: 69,350,260 (GRCm39)	V704A	probably benign	Het
Lypd6b	A	T	2: 49,837,534 (GRCm39)	S169C	possibly damaging	Het
Mapk12	T	C	15: 89,024,611 (GRCm39)	E22G	probably benign	Het
Ncapg	T	C	5: 45,833,983 (GRCm39)	C340R	probably benign	Het
Ncor2	A	G	5: 125,111,086 (GRCm39)	L394P		Het
Nek1	T	G	8: 61,481,768 (GRCm39)	S228A	probably damaging	Het
Or2ak7	T	C	11: 58,574,722 (GRCm39)	C8R	probably benign	Het
Or2t29	A	T	11: 58,433,782 (GRCm39)	C186*	probably null	Het
Or2t44	T	A	11: 58,677,559 (GRCm39)	F166L	possibly damaging	Het
Or4c119	C	T	2: 88,986,719 (GRCm39)	E267K	possibly damaging	Het
Pcdha8	C	A	18: 37,126,285 (GRCm39)	P256T	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Ptprn	A	T	1: 75,229,018 (GRCm39)	M799K	probably damaging	Het
Rhpn2	A	T	7: 35,083,473 (GRCm39)		probably benign	Het
Sae1	A	G	7: 16,070,668 (GRCm39)	F281L	probably benign	Het
Slc25a23	A	G	17: 57,354,309 (GRCm39)	Y366H	probably benign	Het
Slc25a25	G	T	2: 32,309,175 (GRCm39)	T222K	probably damaging	Het
Smarca2	T	A	19: 26,659,452 (GRCm39)	F914Y	possibly damaging	Het
Spef2	C	A	15: 9,653,091 (GRCm39)	V897L	probably benign	Het
Spon2	C	A	5: 33,374,054 (GRCm39)	E110*	probably null	Het
Sstr2	A	G	11: 113,515,177 (GRCm39)	N32S	probably benign	Het
Stk4	T	C	2: 163,959,985 (GRCm39)	V415A	probably benign	Het
Tcaf1	T	G	6: 42,654,372 (GRCm39)	T607P	probably benign	Het
Ush1c	C	A	7: 45,850,480 (GRCm39)	L766F	probably damaging	Het
Usp9y	T	C	Y: 1,383,354 (GRCm39)	I795V	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r53	A	G	7: 12,340,231 (GRCm39)	S81P	probably damaging	Het
Vps45	A	G	3: 95,960,345 (GRCm39)		probably benign	Het
Wdr6	A	G	9: 108,451,627 (GRCm39)	V752A	probably benign	Het
Xkr4	G	A	1: 3,286,358 (GRCm39)	R611*	probably null	Het
Zc3h6	T	G	2: 128,859,096 (GRCm39)	Y1042*	probably null	Het
Zfp236	A	G	18: 82,638,469 (GRCm39)	S1384P	possibly damaging	Het
Zfp800	A	T	6: 28,243,215 (GRCm39)	N583K	probably benign	Het
Zpld1	T	C	16: 55,061,764 (GRCm39)	S206G	probably benign	Het
Zxdc	T	A	6: 90,349,821 (GRCm39)	S372R	probably damaging	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
R6477:Or56b1	UTSW	7	104,284,886 (GRCm39)	missense	probably benign	0.00
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
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'- CTTCTCTGAAGCAGCCCATG -3'
(R):5'- GCTTGTGACTCCAAGGTTTG -3'

Sequencing Primer
(F):5'- GAAGCAGCCCATGTACCTTTTCTTAG -3'
(R):5'- TGACTCCAAGGTTTGAGCAC -3'

Posted On

2021-11-19