Mutagenetix > Incidental Mutation

Incidental Mutation 'R9023:Or56b1'

686363

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

068853-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R9023 (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: 99.6%
20x: 98.7%

Validation Efficiency

100% (66/66)

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
A2m	A	G	6: 121,636,917 (GRCm39)	D760G	possibly damaging	Het
Adamts14	C	T	10: 61,038,780 (GRCm39)	S907N	probably damaging	Het
Adgrf1	A	T	17: 43,614,651 (GRCm39)	Y245F	possibly damaging	Het
Adgrl3	C	T	5: 81,613,065 (GRCm39)	A98V	probably damaging	Het
Afmid	A	T	11: 117,726,349 (GRCm39)	I186F	probably damaging	Het
Ago4	A	G	4: 126,400,596 (GRCm39)	Y706H	probably damaging	Het
Appl1	A	T	14: 26,685,652 (GRCm39)	S55R	possibly damaging	Het
Ash1l	A	G	3: 88,892,576 (GRCm39)	H1485R	probably damaging	Het
Atp6v0a2	C	T	5: 124,796,138 (GRCm39)	T734M	possibly damaging	Het
B3gat1	T	C	9: 26,663,069 (GRCm39)		probably benign	Het
Bcl7c	T	C	7: 127,306,504 (GRCm39)	N96D	probably benign	Het
Brca2	T	C	5: 150,465,360 (GRCm39)	L1708P	probably benign	Het
Ccl8	C	T	11: 82,006,873 (GRCm39)	P29S	possibly damaging	Het
Clpx	T	A	9: 65,234,115 (GRCm39)	C587S	probably null	Het
Coro2b	T	C	9: 62,332,978 (GRCm39)	D168G		Het
Dst	T	C	1: 34,153,105 (GRCm39)		probably null	Het
Eps8l1	C	T	7: 4,477,042 (GRCm39)	Q443*	probably null	Het
Fam131b	G	T	6: 42,298,946 (GRCm39)	N11K	possibly damaging	Het
Firrm	A	T	1: 163,818,300 (GRCm39)	I47N	possibly damaging	Het
Fry	T	C	5: 150,360,768 (GRCm39)	V125A	probably benign	Het
Ftcd	T	C	10: 76,417,413 (GRCm39)	F284S	probably damaging	Het
Glg1	A	G	8: 111,904,380 (GRCm39)	I617T	probably damaging	Het
Gm4847	C	T	1: 166,469,332 (GRCm39)	V111M	probably damaging	Het
Hcrtr2	C	T	9: 76,161,854 (GRCm39)	V179I	probably damaging	Het
Herc6	A	G	6: 57,595,612 (GRCm39)	N430S	probably benign	Het
Knl1	T	C	2: 118,900,761 (GRCm39)	S821P	probably benign	Het
Letm2	C	T	8: 26,077,236 (GRCm39)	V285I		Het
Map3k14	T	C	11: 103,129,835 (GRCm39)	T361A	possibly damaging	Het
Mmp10	A	T	9: 7,504,913 (GRCm39)	M236L	probably damaging	Het
Mmp16	A	G	4: 17,996,202 (GRCm39)	K97R	probably benign	Het
Muc6	T	A	7: 141,237,432 (GRCm39)	K194*	probably null	Het
Myo18a	A	G	11: 77,718,477 (GRCm39)	Y949C	probably damaging	Het
Nat8f1	A	G	6: 85,887,369 (GRCm39)	L197P	probably damaging	Het
Nlrp9a	T	G	7: 26,273,291 (GRCm39)	N976K	possibly damaging	Het
Or2aa1	A	T	11: 59,480,367 (GRCm39)	C183S	probably damaging	Het
Or8g24	T	C	9: 38,989,307 (GRCm39)	I245V	probably benign	Het
Parp3	T	C	9: 106,348,490 (GRCm39)	Y515C	probably damaging	Het
Pde11a	C	G	2: 75,966,803 (GRCm39)	A549P	probably damaging	Het
Pdlim4	T	C	11: 53,959,662 (GRCm39)		probably benign	Het
Pla2g4e	T	C	2: 120,001,718 (GRCm39)	T644A	probably benign	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Poglut2	T	C	1: 44,153,925 (GRCm39)	I175V	possibly damaging	Het
Prb1b	GAGGGGGTCTCTGCTGGGGGCCTCTCTGTGGGGGTGGGCCTTGTTGGTTTCCAGGCT	G	6: 132,289,174 (GRCm39)		probably null	Het
Prr7	A	G	13: 55,620,234 (GRCm39)	S133G	possibly damaging	Het
Pten	C	A	19: 32,795,412 (GRCm39)	D326E	possibly damaging	Het
Ranbp2	T	A	10: 58,315,343 (GRCm39)	L2021*	probably null	Het
Rassf5	T	C	1: 131,140,077 (GRCm39)	I161V	probably benign	Het
Ric1	C	A	19: 29,548,143 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,373,791 (GRCm39)	S1157P	probably damaging	Het
Serpinb1a	A	G	13: 33,029,763 (GRCm39)	V153A	probably damaging	Het
Shank1	T	C	7: 43,968,531 (GRCm39)	Y275H	unknown	Het
Slc6a18	C	T	13: 73,823,889 (GRCm39)	G84R	probably damaging	Het
Smarcc2	A	G	10: 128,301,093 (GRCm39)	E187G	probably damaging	Het
Stxbp4	A	G	11: 90,426,249 (GRCm39)	S520P	unknown	Het
Taar8b	C	T	10: 23,967,205 (GRCm39)	E330K	probably benign	Het
Tdpoz6	A	G	3: 93,599,742 (GRCm39)	F209S	probably damaging	Het
Tex14	T	A	11: 87,365,239 (GRCm39)	V61D		Het
Tg	T	C	15: 66,555,522 (GRCm39)	F738S	probably damaging	Het
Trpc4	T	C	3: 54,102,254 (GRCm39)	S51P	possibly damaging	Het
Ttn	T	C	2: 76,626,231 (GRCm39)	S14975G	probably benign	Het
Usp15	C	T	10: 122,961,498 (GRCm39)	G685R	possibly damaging	Het
Usp17lc	C	T	7: 103,067,539 (GRCm39)	P278L	possibly damaging	Het
Wasf1	T	C	10: 40,810,571 (GRCm39)	V271A	possibly damaging	Het
Zbtb46	C	T	2: 181,065,935 (GRCm39)	V72I	possibly damaging	Het
Zfp462	A	G	4: 55,007,563 (GRCm39)	M1V	probably null	Het
Zfp648	T	C	1: 154,080,914 (GRCm39)	F358L	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
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'- GCAGCCCATGTACCTTTTCTTAGG -3'
(R):5'- ACATGCCAGGCTTGTGACTC -3'

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

Posted On

2021-10-11