Mutagenetix > Incidental Mutation

Incidental Mutation 'R6394:Or56b1'

515944

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

044543-MU

Accession Numbers

Essential gene?

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

Stock #

R6394 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104284883-104285842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104285234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 118 (S118P)

Ref Sequence

ENSEMBL: ENSMUSP00000150070 (fasta)

Gene Model

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

AlphaFold

Q7TRP7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098171
AA Change: S118P

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095773
Gene: ENSMUSG00000073923
AA Change: S118P

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

possibly damaging
Transcript: ENSMUST00000213297
AA Change: S118P

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215454
AA Change: S118P

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,760,029 (GRCm39)		probably null	Het
Alpi	T	A	1: 87,028,428 (GRCm39)	Y154F	possibly damaging	Het
Als2	A	T	1: 59,206,356 (GRCm39)	F1635I	probably damaging	Het
Anxa1	C	T	19: 20,361,213 (GRCm39)	V60M	probably damaging	Het
Atp10b	A	G	11: 43,116,464 (GRCm39)	Y937C	probably damaging	Het
Brd4	C	A	17: 32,443,121 (GRCm39)	E167*	probably null	Het
Cacna1h	G	A	17: 25,606,455 (GRCm39)	T1048I	probably benign	Het
Ccdc113	A	G	8: 96,283,820 (GRCm39)	D298G	probably benign	Het
Cfap100	T	A	6: 90,394,605 (GRCm39)	N74I	possibly damaging	Het
Chd8	A	T	14: 52,440,042 (GRCm39)	H4Q	possibly damaging	Het
Clcn1	A	G	6: 42,284,524 (GRCm39)	T621A	possibly damaging	Het
Clcn1	A	G	6: 42,290,172 (GRCm39)	T843A	possibly damaging	Het
Clcn3	C	T	8: 61,394,325 (GRCm39)	R68Q	probably damaging	Het
Dcaf13	T	A	15: 39,007,132 (GRCm39)	N355K	probably benign	Het
Dnah6	A	T	6: 73,132,401 (GRCm39)	C1100*	probably null	Het
Dync2h1	A	T	9: 7,168,331 (GRCm39)	V428E	probably damaging	Het
E230025N22Rik	T	C	18: 36,819,839 (GRCm39)	E317G	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Evc2	C	A	5: 37,535,619 (GRCm39)	D431E	probably damaging	Het
Gcm2	T	G	13: 41,263,373 (GRCm39)	T20P	probably damaging	Het
Gdf9	A	G	11: 53,327,524 (GRCm39)	Y160C	probably damaging	Het
Gm8220	A	G	14: 44,523,134 (GRCm39)		probably benign	Het
Gpalpp1	A	T	14: 76,344,852 (GRCm39)	S44T	possibly damaging	Het
Grip2	T	C	6: 91,764,182 (GRCm39)	Y134C	probably damaging	Het
Hephl1	A	G	9: 14,985,397 (GRCm39)	F753S	probably benign	Het
Herc1	A	G	9: 66,302,341 (GRCm39)	T727A	probably damaging	Het
Herc2	A	G	7: 55,865,729 (GRCm39)	E4232G	probably damaging	Het
Ifi207	A	G	1: 173,556,581 (GRCm39)	L726P	probably benign	Het
Itga11	T	A	9: 62,642,548 (GRCm39)		probably null	Het
Jrkl	A	C	9: 13,245,495 (GRCm39)	Y55*	probably null	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kif18b	A	G	11: 102,805,236 (GRCm39)	V303A	probably damaging	Het
Klhl29	A	T	12: 5,144,830 (GRCm39)	C423*	probably null	Het
Klhl29	T	C	12: 5,187,720 (GRCm39)	S215G	probably benign	Het
Lamp5	A	G	2: 135,902,929 (GRCm39)	D216G	possibly damaging	Het
Leo1	T	A	9: 75,352,752 (GRCm39)	D98E	probably benign	Het
Map3k3	T	C	11: 106,039,709 (GRCm39)	V283A	probably benign	Het
Med12l	A	G	3: 59,142,508 (GRCm39)	K902E	probably damaging	Het
Mmp1b	C	A	9: 7,386,316 (GRCm39)	D202Y	probably benign	Het
Muc21	A	T	17: 35,931,058 (GRCm39)		probably benign	Het
Onecut3	A	G	10: 80,331,847 (GRCm39)	I336V	probably damaging	Het
Oprl1	C	T	2: 181,360,795 (GRCm39)	R257C	probably damaging	Het
Or10g9	T	C	9: 39,912,001 (GRCm39)	Q174R	probably benign	Het
Or10h1	G	A	17: 33,418,487 (GRCm39)	G155D	probably damaging	Het
Or4c11b	C	T	2: 88,625,296 (GRCm39)	T190I	probably benign	Het
Or5p64	C	T	7: 107,854,970 (GRCm39)	R125H	possibly damaging	Het
Or6c69	G	T	10: 129,747,789 (GRCm39)	D119E	probably damaging	Het
Osbpl6	T	C	2: 76,386,298 (GRCm39)	V207A	probably benign	Het
Pde3a	A	T	6: 141,433,237 (GRCm39)	H756L	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phyh	A	G	2: 4,940,814 (GRCm39)	D238G	probably benign	Het
Pnliprp2	T	A	19: 58,750,030 (GRCm39)	N92K	probably benign	Het
Pole3	T	C	4: 62,442,263 (GRCm39)		probably benign	Het
Ppm1d	T	C	11: 85,230,498 (GRCm39)	V372A	probably benign	Het
Prpf40a	A	T	2: 53,034,890 (GRCm39)	I766N	probably damaging	Het
Prr5	T	A	15: 84,583,925 (GRCm39)	V175E	probably damaging	Het
Prss59	A	T	6: 40,898,726 (GRCm39)	L174*	probably null	Het
Ptprq	T	A	10: 107,478,804 (GRCm39)	K1280*	probably null	Het
Rbp2	T	A	9: 98,389,873 (GRCm39)	V95E	possibly damaging	Het
Rictor	T	C	15: 6,798,790 (GRCm39)	F346L	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Scn10a	T	A	9: 119,490,386 (GRCm39)	I519F	probably benign	Het
Setd5	T	G	6: 113,092,505 (GRCm39)	V295G	probably damaging	Het
Shcbp1	A	T	8: 4,786,176 (GRCm39)	M642K	probably damaging	Het
Slc13a3	C	T	2: 165,276,017 (GRCm39)	G243E	probably damaging	Het
Smg9	T	C	7: 24,121,732 (GRCm39)	Y498H	probably damaging	Het
Sox5	T	C	6: 143,987,039 (GRCm39)	D175G	probably damaging	Het
Stard7	A	G	2: 127,126,161 (GRCm39)	D71G	probably damaging	Het
Stxbp5	A	T	10: 9,774,975 (GRCm39)	Y59*	probably null	Het
Supt6	G	A	11: 78,121,891 (GRCm39)	R254C	probably damaging	Het
Syne2	C	T	12: 76,037,269 (GRCm39)	T3817I	probably benign	Het
Tas2r124	T	A	6: 132,732,039 (GRCm39)	I116N	probably damaging	Het
Trim9	T	A	12: 70,301,987 (GRCm39)	E550D	possibly damaging	Het
Vmn2r50	A	G	7: 9,774,253 (GRCm39)	S548P	probably damaging	Het
Zmynd8	C	A	2: 165,687,943 (GRCm39)	E126*	probably null	Het
Zswim9	A	T	7: 12,994,889 (GRCm39)	S422R	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	104,284,909 (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
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'- GCAATAGGGACAAACGTGCTC -3'
(R):5'- TTGAACAATAATTCCGCTGGGC -3'

Sequencing Primer
(F):5'- GTCAGGATCCTTCTCTGAAGCAG -3'
(R):5'- CAATAATTCCGCTGGGCTGCAAG -3'

Posted On

2018-05-04