Mutagenetix > Incidental Mutation

Incidental Mutation 'R9103:Or56b1b'

691813

Institutional Source

Beutler Lab

Gene Symbol

Or56b1b

Ensembl Gene

ENSMUSG00000060105

Gene Name

olfactory receptor family 56 subfamily B member 1B

Synonyms

MOR40-15, MOR40-7P, Olfr504, GA_x6K02T2PBJ9-10895499-10894543

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R9103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108164044-108165000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108164780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 74 (L74Q)

Ref Sequence

ENSEMBL: ENSMUSP00000075025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075595]

AlphaFold

Q7TRU7

Predicted Effect

probably benign
Transcript: ENSMUST00000075595
AA Change: L74Q

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000075025
Gene: ENSMUSG00000060105
AA Change: L74Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	3.9e-70	PFAM
Pfam:7TM_GPCR_Srsx	40	311	5.1e-10	PFAM
Pfam:7tm_1	47	296	3.1e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,454,558 (GRCm39)	C458*	probably null	Het
Adgra2	G	A	8: 27,603,436 (GRCm39)	G407D	probably damaging	Het
Aox4	G	A	1: 58,296,441 (GRCm39)	G1046E	probably damaging	Het
Arhgap27	A	G	11: 103,251,540 (GRCm39)	Y63H	probably damaging	Het
Ascl3	A	T	7: 109,327,127 (GRCm39)	M64K	probably benign	Het
Cacna2d3	G	A	14: 29,068,971 (GRCm39)	T252I	probably damaging	Het
Capn7	A	G	14: 31,091,732 (GRCm39)	T710A	probably benign	Het
Carmil1	A	G	13: 24,295,836 (GRCm39)	C393R	probably benign	Het
Chd5	A	C	4: 152,461,444 (GRCm39)	E1215A	possibly damaging	Het
Cntnap1	A	G	11: 101,072,094 (GRCm39)	N449S	probably benign	Het
Cpz	G	A	5: 35,675,054 (GRCm39)	S65L	probably benign	Het
Cyp2c68	T	A	19: 39,727,625 (GRCm39)	N118I	possibly damaging	Het
Ddx25	A	T	9: 35,458,085 (GRCm39)	F345I	probably benign	Het
Dennd2d	T	C	3: 106,397,684 (GRCm39)	Y161H		Het
Egfl8	C	T	17: 34,833,210 (GRCm39)	D179N	probably benign	Het
Eif2a	A	G	3: 58,452,461 (GRCm39)	N174S		Het
Farp1	C	T	14: 121,509,104 (GRCm39)	H643Y	possibly damaging	Het
Fat1	G	T	8: 45,404,850 (GRCm39)	V534L	probably benign	Het
Fbxo48	A	G	11: 16,903,556 (GRCm39)	T61A	probably benign	Het
Fnbp4	A	G	2: 90,608,187 (GRCm39)	T970A	probably benign	Het
Foxd1	T	A	13: 98,491,763 (GRCm39)	D212E	possibly damaging	Het
Fstl4	C	A	11: 52,664,696 (GRCm39)	H9N	probably benign	Het
Fyb1	A	G	15: 6,673,232 (GRCm39)	D622G	possibly damaging	Het
Gm4787	T	A	12: 81,425,489 (GRCm39)	H223L	probably benign	Het
Grin3a	A	G	4: 49,771,179 (GRCm39)	V531A	probably damaging	Het
Gzmb	T	C	14: 56,498,622 (GRCm39)	D42G	probably benign	Het
Herc2	T	A	7: 55,784,803 (GRCm39)	Y1416N	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hsd17b6	A	G	10: 127,833,876 (GRCm39)	W2R	probably damaging	Het
Hspa4l	T	C	3: 40,715,349 (GRCm39)		probably null	Het
Igtp	A	G	11: 58,097,726 (GRCm39)	E299G		Het
Klhl28	T	C	12: 64,990,300 (GRCm39)	D547G	possibly damaging	Het
Leng8	G	C	7: 4,146,897 (GRCm39)	R473P	probably damaging	Het
Lin37	T	A	7: 30,257,055 (GRCm39)	N53Y	possibly damaging	Het
Lrp1	G	A	10: 127,430,979 (GRCm39)	Q357*	probably null	Het
Lrrfip2	A	T	9: 111,034,840 (GRCm39)	K176N	probably damaging	Het
Ltbp4	A	G	7: 27,028,186 (GRCm39)	S390P	unknown	Het
Map3k2	G	A	18: 32,353,625 (GRCm39)	R465H	possibly damaging	Het
Mthfd1	T	A	12: 76,350,517 (GRCm39)	V665E	probably damaging	Het
Myh3	A	T	11: 66,989,451 (GRCm39)	I1524F	probably benign	Het
Myo1g	A	G	11: 6,466,153 (GRCm39)	S339P	possibly damaging	Het
Nf1	A	G	11: 79,450,332 (GRCm39)	K506R	probably damaging	Het
Nudt21	A	G	8: 94,746,321 (GRCm39)	I225T	probably benign	Het
Or4c31	A	G	2: 88,291,942 (GRCm39)	K105R	probably benign	Het
Or5g9	T	A	2: 85,552,527 (GRCm39)	Y259*	probably null	Het
Or8b3	A	G	9: 38,314,518 (GRCm39)	Y116C	probably damaging	Het
Or8c18	A	T	9: 38,203,969 (GRCm39)	I243F	probably damaging	Het
Pax2	C	T	19: 44,806,968 (GRCm39)	T299I	probably benign	Het
Pde4dip	C	T	3: 97,749,044 (GRCm39)	S99N	probably damaging	Het
Pdlim5	T	A	3: 142,010,174 (GRCm39)	H147L	possibly damaging	Het
Pfkfb3	T	A	2: 11,487,381 (GRCm39)	Y343F	probably damaging	Het
Phf10	A	G	17: 15,174,382 (GRCm39)	I232T	probably damaging	Het
Plcb3	C	T	19: 6,936,288 (GRCm39)	G745D	probably benign	Het
Pramel11	G	A	4: 143,624,381 (GRCm39)	L39F	probably damaging	Het
Recql	C	A	6: 142,322,515 (GRCm39)	C129F	possibly damaging	Het
Rrp1	C	T	10: 78,240,876 (GRCm39)	D288N	unknown	Het
Samd4	T	C	14: 47,254,066 (GRCm39)	Y177H	probably benign	Het
Sim1	T	A	10: 50,785,525 (GRCm39)	M198K	possibly damaging	Het
Six4	T	C	12: 73,155,964 (GRCm39)	I334M	probably damaging	Het
Slc27a6	T	C	18: 58,705,268 (GRCm39)	S217P	probably damaging	Het
Slc2a4	T	A	11: 69,836,218 (GRCm39)	K264N	probably benign	Het
Slc8b1	A	T	5: 120,670,939 (GRCm39)	I476F	probably benign	Het
Smcp	T	C	3: 92,491,838 (GRCm39)	D3G	unknown	Het
Tagap	A	T	17: 8,152,335 (GRCm39)	M507L	probably benign	Het
Thap11	A	G	8: 106,582,780 (GRCm39)	E263G	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Top3a	T	G	11: 60,654,253 (GRCm39)		probably null	Het
Ube2q2l	T	A	6: 136,378,011 (GRCm39)	D273V	probably benign	Het
Vmn1r31	A	G	6: 58,449,073 (GRCm39)	V264A	unknown	Het
Vti1a	A	C	19: 55,316,865 (GRCm39)	M81L	probably benign	Het
Wscd1	T	C	11: 71,674,245 (GRCm39)		probably null	Het
Zfp595	T	C	13: 67,464,676 (GRCm39)	E532G	probably damaging	Het
Zranb1	T	A	7: 132,584,167 (GRCm39)	V539D	probably damaging	Het

Other mutations in Or56b1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Or56b1b	APN	7	108,164,409 (GRCm39)	missense	probably benign	0.02
IGL01447:Or56b1b	APN	7	108,164,216 (GRCm39)	missense	possibly damaging	0.75
IGL01845:Or56b1b	APN	7	108,164,343 (GRCm39)	missense	possibly damaging	0.76
IGL02110:Or56b1b	APN	7	108,164,286 (GRCm39)	missense	probably damaging	1.00
IGL03196:Or56b1b	APN	7	108,164,061 (GRCm39)	missense	probably benign
R0282:Or56b1b	UTSW	7	108,164,684 (GRCm39)	missense	probably damaging	1.00
R0359:Or56b1b	UTSW	7	108,164,721 (GRCm39)	missense	probably benign	0.01
R0514:Or56b1b	UTSW	7	108,164,879 (GRCm39)	missense	probably damaging	1.00
R0727:Or56b1b	UTSW	7	108,164,315 (GRCm39)	missense	probably benign	0.00
R0744:Or56b1b	UTSW	7	108,164,205 (GRCm39)	missense	possibly damaging	0.57
R0836:Or56b1b	UTSW	7	108,164,205 (GRCm39)	missense	possibly damaging	0.57
R0840:Or56b1b	UTSW	7	108,164,823 (GRCm39)	missense	probably benign	0.00
R0883:Or56b1b	UTSW	7	108,164,483 (GRCm39)	missense	probably benign	0.01
R1750:Or56b1b	UTSW	7	108,164,564 (GRCm39)	nonsense	probably null
R1827:Or56b1b	UTSW	7	108,164,282 (GRCm39)	missense	probably benign	0.35
R1933:Or56b1b	UTSW	7	108,164,730 (GRCm39)	missense	possibly damaging	0.57
R3004:Or56b1b	UTSW	7	108,164,151 (GRCm39)	missense	probably benign	0.42
R3766:Or56b1b	UTSW	7	108,164,402 (GRCm39)	missense	probably benign	0.00
R5179:Or56b1b	UTSW	7	108,164,433 (GRCm39)	missense	probably benign
R5408:Or56b1b	UTSW	7	108,164,376 (GRCm39)	missense	probably damaging	0.99
R5493:Or56b1b	UTSW	7	108,164,774 (GRCm39)	missense	probably benign	0.24
R5569:Or56b1b	UTSW	7	108,164,772 (GRCm39)	missense	probably benign	0.01
R6520:Or56b1b	UTSW	7	108,164,046 (GRCm39)	makesense	probably null
R6798:Or56b1b	UTSW	7	108,164,967 (GRCm39)	nonsense	probably null
R6803:Or56b1b	UTSW	7	108,164,620 (GRCm39)	missense	probably damaging	1.00
R7242:Or56b1b	UTSW	7	108,164,919 (GRCm39)	missense	probably benign	0.03
R7559:Or56b1b	UTSW	7	108,164,763 (GRCm39)	missense	probably damaging	0.99
R7644:Or56b1b	UTSW	7	108,164,649 (GRCm39)	missense	possibly damaging	0.78
R8498:Or56b1b	UTSW	7	108,164,833 (GRCm39)	nonsense	probably null
R8970:Or56b1b	UTSW	7	108,164,997 (GRCm39)	missense	probably benign	0.00
R9014:Or56b1b	UTSW	7	108,164,882 (GRCm39)	missense	possibly damaging	0.63
R9093:Or56b1b	UTSW	7	108,164,454 (GRCm39)	missense	probably damaging	1.00
R9548:Or56b1b	UTSW	7	108,164,334 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- GCACCATAAACAGTGTGGC -3'
(R):5'- GGTGTCTGAGTTCATCCTGC -3'

Sequencing Primer
(F):5'- GCACCATAAACAGTGTGGCTTTAAAG -3'
(R):5'- CTAGGATTCCCGGGCATTCACAG -3'

Posted On

2021-12-30