Mutagenetix > Incidental Mutation

Incidental Mutation 'R7862:Or8b3b'

607582

Institutional Source

Beutler Lab

Gene Symbol

Or8b3b

Ensembl Gene

ENSMUSG00000046150

Gene Name

olfactory receptor family 8 subfamily B member 3B

Synonyms

GA_x6K02T2PVTD-32375756-32374818, MOR164-3, Olfr918

MMRRC Submission

045915-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R7862 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38583800-38584777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38584624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 39 (V39M)

Ref Sequence

ENSEMBL: ENSMUSP00000150182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055099] [ENSMUST00000215461]

AlphaFold

E9PVZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000055099
AA Change: V52M

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000057210
Gene: ENSMUSG00000046150
AA Change: V52M

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:7tm_4	44	319	6.5e-48	PFAM
Pfam:7tm_1	54	301	3.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215461
AA Change: V39M

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	C	3: 145,649,624 (GRCm39)	*181S	probably null	Het
Abcc10	G	T	17: 46,626,458 (GRCm39)	S661*	probably null	Het
Abtb2	C	T	2: 103,532,626 (GRCm39)	R475W	probably damaging	Het
Cep97	T	C	16: 55,726,084 (GRCm39)	D673G	probably benign	Het
Chaf1b	T	C	16: 93,684,983 (GRCm39)	M144T	possibly damaging	Het
Chd8	T	C	14: 52,451,734 (GRCm39)	D1372G	probably damaging	Het
Chmp6	G	A	11: 119,807,836 (GRCm39)		probably null	Het
Cst12	T	C	2: 148,631,495 (GRCm39)	V72A	probably damaging	Het
D1Pas1	G	A	1: 186,700,349 (GRCm39)	G93R	probably damaging	Het
Dhx34	C	A	7: 15,944,448 (GRCm39)	V589F	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dmrta1	C	A	4: 89,576,561 (GRCm39)	H6N	probably benign	Het
Dop1b	T	C	16: 93,546,851 (GRCm39)	L285P	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Ehbp1l1	C	T	19: 5,770,851 (GRCm39)	R230Q	probably benign	Het
Ep300	T	G	15: 81,534,954 (GRCm39)	V2337G	probably damaging	Het
Fh1	A	T	1: 175,442,400 (GRCm39)	V150E	probably damaging	Het
Fkbp11	G	A	15: 98,624,389 (GRCm39)	R122*	probably null	Het
Fkbp5	C	T	17: 28,631,013 (GRCm39)	E251K	probably damaging	Het
Fmnl1	A	G	11: 103,071,756 (GRCm39)	K88E	probably damaging	Het
Frrs1	T	C	3: 116,685,529 (GRCm39)	V300A	possibly damaging	Het
Glud1	T	G	14: 34,047,479 (GRCm39)	L198V	possibly damaging	Het
Gsdmc	A	T	15: 63,649,845 (GRCm39)	W349R	possibly damaging	Het
Hacd1	T	C	2: 14,050,013 (GRCm39)	H64R	probably damaging	Het
Haus2	T	A	2: 120,443,570 (GRCm39)	D75E	probably benign	Het
Hmcn1	A	T	1: 150,682,172 (GRCm39)	F459L	probably damaging	Het
Ighe	A	T	12: 113,235,428 (GRCm39)	V272E		Het
Iqgap1	C	T	7: 80,393,636 (GRCm39)	R647H	probably benign	Het
Jmy	T	C	13: 93,635,703 (GRCm39)	I38V	possibly damaging	Het
Kcnh1	G	T	1: 191,873,167 (GRCm39)		probably benign	Het
Kctd20	C	T	17: 29,181,849 (GRCm39)	A167V	probably damaging	Het
Klhl38	A	T	15: 58,178,395 (GRCm39)	V525E	probably damaging	Het
Krit1	A	G	5: 3,862,788 (GRCm39)	D259G	probably damaging	Het
Med1	A	T	11: 98,052,036 (GRCm39)	C443S	probably benign	Het
Mllt6	T	C	11: 97,556,631 (GRCm39)	V107A	probably benign	Het
Myl7	A	G	11: 5,847,157 (GRCm39)	M132T	probably benign	Het
Myo10	T	C	15: 25,666,522 (GRCm39)	V11A	probably damaging	Het
Nipbl	T	C	15: 8,355,236 (GRCm39)	I1642V	probably benign	Het
Or4a47	T	C	2: 89,665,468 (GRCm39)	T274A	probably benign	Het
Or6c214	T	C	10: 129,591,224 (GRCm39)	T32A	probably benign	Het
Or7g25	C	A	9: 19,160,736 (GRCm39)		probably benign	Het
Pcdhb2	C	T	18: 37,429,113 (GRCm39)	A362V	probably benign	Het
Pnp2	A	T	14: 51,201,016 (GRCm39)	D167V	possibly damaging	Het
Rasa1	G	A	13: 85,403,530 (GRCm39)	T282I	probably damaging	Het
Rp1l1	A	G	14: 64,265,476 (GRCm39)	D354G	probably damaging	Het
Rpap1	C	T	2: 119,605,893 (GRCm39)		probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Shank3	A	G	15: 89,389,648 (GRCm39)	D415G	possibly damaging	Het
Slc12a1	A	G	2: 125,003,014 (GRCm39)	I182V	probably damaging	Het
Slc6a13	A	G	6: 121,312,589 (GRCm39)	Y441C	probably damaging	Het
Sltm	G	T	9: 70,479,446 (GRCm39)	E193*	probably null	Het
Spag9	T	C	11: 94,002,892 (GRCm39)	I1134T	possibly damaging	Het
Spta1	G	A	1: 174,025,351 (GRCm39)		probably null	Het
Stk3	A	G	15: 35,115,732 (GRCm39)	V29A	possibly damaging	Het
Tgfbr1	A	T	4: 47,403,489 (GRCm39)	I365F	probably damaging	Het
Thpo	C	T	16: 20,547,540 (GRCm39)	V24I	probably benign	Het
Tle1	A	C	4: 72,117,552 (GRCm39)	L36R	probably damaging	Het
Togaram2	T	C	17: 71,996,168 (GRCm39)	V57A	probably benign	Het
Ttll9	C	T	2: 152,848,895 (GRCm39)	A459V	probably benign	Het
Ush1c	T	C	7: 45,870,848 (GRCm39)	I330V	probably damaging	Het
Usp34	T	C	11: 23,414,718 (GRCm39)	M2906T		Het
Vmn2r28	A	T	7: 5,493,613 (GRCm39)	M111K	probably benign	Het
Vmn2r97	T	C	17: 19,167,416 (GRCm39)	C557R	probably damaging	Het
Zfp873	T	A	10: 81,896,109 (GRCm39)	I280K	probably benign	Het

Other mutations in Or8b3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Or8b3b	APN	9	38,584,320 (GRCm39)	missense	probably benign	0.01
IGL01388:Or8b3b	APN	9	38,584,379 (GRCm39)	nonsense	probably null
IGL01516:Or8b3b	APN	9	38,584,159 (GRCm39)	missense	probably benign	0.09
IGL02121:Or8b3b	APN	9	38,584,711 (GRCm39)	missense	probably damaging	0.98
IGL02209:Or8b3b	APN	9	38,584,342 (GRCm39)	missense	possibly damaging	0.84
IGL02256:Or8b3b	APN	9	38,584,776 (GRCm39)	start codon destroyed	probably null
IGL02517:Or8b3b	APN	9	38,584,209 (GRCm39)	missense	probably damaging	1.00
IGL02648:Or8b3b	APN	9	38,584,312 (GRCm39)	missense	probably benign
IGL02747:Or8b3b	APN	9	38,584,380 (GRCm39)	missense	probably benign	0.11
IGL02971:Or8b3b	APN	9	38,584,564 (GRCm39)	missense	probably damaging	0.96
E0370:Or8b3b	UTSW	9	38,583,857 (GRCm39)	missense	probably damaging	0.99
R0616:Or8b3b	UTSW	9	38,584,776 (GRCm39)	start codon destroyed	probably null
R2173:Or8b3b	UTSW	9	38,584,240 (GRCm39)	missense	probably benign	0.03
R2989:Or8b3b	UTSW	9	38,583,831 (GRCm39)	missense	probably benign
R3430:Or8b3b	UTSW	9	38,584,435 (GRCm39)	missense	probably damaging	1.00
R3809:Or8b3b	UTSW	9	38,584,159 (GRCm39)	missense	probably benign	0.09
R4688:Or8b3b	UTSW	9	38,584,659 (GRCm39)	missense	probably damaging	1.00
R4702:Or8b3b	UTSW	9	38,584,776 (GRCm39)	start codon destroyed	probably null
R5548:Or8b3b	UTSW	9	38,584,600 (GRCm39)	missense	probably benign	0.00
R5590:Or8b3b	UTSW	9	38,584,261 (GRCm39)	missense	probably damaging	1.00
R6082:Or8b3b	UTSW	9	38,583,866 (GRCm39)	missense	probably damaging	1.00
R6214:Or8b3b	UTSW	9	38,584,510 (GRCm39)	missense	probably benign	0.13
R6215:Or8b3b	UTSW	9	38,584,510 (GRCm39)	missense	probably benign	0.13
R6893:Or8b3b	UTSW	9	38,584,355 (GRCm39)	missense	possibly damaging	0.95
R7215:Or8b3b	UTSW	9	38,584,743 (GRCm39)	missense	probably benign	0.05
R7624:Or8b3b	UTSW	9	38,583,919 (GRCm39)	missense	probably benign	0.18
R8116:Or8b3b	UTSW	9	38,584,464 (GRCm39)	missense	possibly damaging	0.93
R8897:Or8b3b	UTSW	9	38,584,147 (GRCm39)	missense	probably damaging	1.00
R8899:Or8b3b	UTSW	9	38,584,147 (GRCm39)	missense	probably damaging	1.00
R9114:Or8b3b	UTSW	9	38,583,892 (GRCm39)	missense	probably benign
R9293:Or8b3b	UTSW	9	38,584,414 (GRCm39)	missense	probably damaging	1.00
R9311:Or8b3b	UTSW	9	38,583,925 (GRCm39)	missense	probably damaging	1.00
R9690:Or8b3b	UTSW	9	38,584,477 (GRCm39)	nonsense	probably null
R9734:Or8b3b	UTSW	9	38,584,239 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATAGCTGAGTCATGCACCC -3'
(R):5'- TTTGGTCCCGTTGTCATGAAC -3'

Sequencing Primer
(F):5'- ACCCCTCATAGGAGATGGAATTCTTC -3'
(R):5'- TTAGAAACAGATCACAAAGACATCGG -3'

Posted On

2019-12-20