Mutagenetix > Incidental Mutation

Incidental Mutation 'R6453:Or8b1c'

520115

Institutional Source

Beutler Lab

Gene Symbol

Or8b1c

Ensembl Gene

ENSMUSG00000096794

Gene Name

olfactory receptor family 8 subfamily B member 1C

Synonyms

GA_x6K02T2PVTD-32165709-32166641, Olfr905, MOR167-1

MMRRC Submission

044589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6453 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38384045-38384977 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38384871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 276 (I276T)

Ref Sequence

ENSEMBL: ENSMUSP00000150357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051111] [ENSMUST00000214377] [ENSMUST00000216724]

AlphaFold

L7N1X5

Predicted Effect

probably benign
Transcript: ENSMUST00000051111
AA Change: I276T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000057998
Gene: ENSMUSG00000096794
AA Change: I276T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.9e-50	PFAM
Pfam:7tm_1	41	298	4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214377
AA Change: I276T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000216724

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.6%
20x: 92.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	C	T	17: 35,879,109 (GRCm39)	S149L	possibly damaging	Het
A830018L16Rik	A	T	1: 11,868,782 (GRCm39)	D354V	possibly damaging	Het
Acta2	G	A	19: 34,224,057 (GRCm39)	T150I	probably damaging	Het
Adgra1	T	A	7: 139,455,343 (GRCm39)	S324T	probably benign	Het
Ankrd44	A	T	1: 54,696,863 (GRCm39)		probably null	Het
B430306N03Rik	T	A	17: 48,623,764 (GRCm39)	W22R	probably damaging	Het
Ccdc162	A	T	10: 41,426,821 (GRCm39)	V2024E	probably damaging	Het
Cers6	C	T	2: 68,877,513 (GRCm39)	H164Y	probably benign	Het
Chd3	T	A	11: 69,240,938 (GRCm39)	K1458*	probably null	Het
Cimip1	A	G	2: 173,370,052 (GRCm39)	Y109C	probably benign	Het
Col3a1	G	A	1: 45,378,538 (GRCm39)		probably benign	Het
Cyb5d2	T	G	11: 72,673,586 (GRCm39)	T3P	probably benign	Het
Dennd1b	A	G	1: 139,071,686 (GRCm39)	Y468C	probably benign	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Exoc7	T	C	11: 116,184,795 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,173,042 (GRCm39)	I2557T	probably benign	Het
Flt1	T	C	5: 147,620,751 (GRCm39)	D131G	possibly damaging	Het
Frem1	G	T	4: 82,833,062 (GRCm39)	S1858*	probably null	Het
Garem1	T	A	18: 21,281,796 (GRCm39)	I187F	probably damaging	Het
Gldc	A	T	19: 30,093,917 (GRCm39)	I700N	probably damaging	Het
Gpatch4	A	G	3: 87,962,312 (GRCm39)	E175G	probably damaging	Het
Gria2	A	G	3: 80,648,281 (GRCm39)	Y152H	possibly damaging	Het
H2-Q2	C	T	17: 35,563,871 (GRCm39)	L251F	probably benign	Het
Hectd4	G	A	5: 121,488,655 (GRCm39)	G3649R	probably damaging	Het
Hormad1	A	G	3: 95,485,568 (GRCm39)	E252G	probably benign	Het
Kif14	A	G	1: 136,410,042 (GRCm39)		probably null	Het
Lmcd1	A	G	6: 112,292,789 (GRCm39)	T214A	probably benign	Het
Macrod2	A	G	2: 142,018,545 (GRCm39)	E226G	probably damaging	Het
Mcm4	A	T	16: 15,448,273 (GRCm39)	L428Q	probably damaging	Het
Msh6	T	A	17: 88,293,167 (GRCm39)	Y641N	probably damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Nipa2	A	T	7: 55,585,569 (GRCm39)	M142K	probably damaging	Het
Parvg	A	T	15: 84,213,126 (GRCm39)	E122V	probably null	Het
Pclo	T	A	5: 14,726,803 (GRCm39)		probably benign	Het
Pik3cd	A	G	4: 149,736,759 (GRCm39)	V933A	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Qpctl	C	T	7: 18,875,222 (GRCm39)	V337I	probably damaging	Het
Qrfprl	G	A	6: 65,430,014 (GRCm39)	G237S	possibly damaging	Het
Ralgapa1	A	G	12: 55,785,104 (GRCm39)	W719R	probably damaging	Het
Rangrf	A	G	11: 68,864,378 (GRCm39)	L28P	probably damaging	Het
Rbbp9	G	T	2: 144,391,054 (GRCm39)	Q38K	probably benign	Het
Rnf169	C	T	7: 99,584,434 (GRCm39)	M246I	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Sdk1	A	G	5: 142,082,676 (GRCm39)	D1098G	probably damaging	Het
Sgsm3	T	A	15: 80,895,515 (GRCm39)	S689T	probably damaging	Het
Slc13a3	C	T	2: 165,253,867 (GRCm39)	V429M	possibly damaging	Het
Slc30a5	A	T	13: 100,951,197 (GRCm39)	D228E	probably benign	Het
Slc46a3	A	G	5: 147,823,200 (GRCm39)	I214T	possibly damaging	Het
Slc7a15	T	C	12: 8,584,490 (GRCm39)	M347V	possibly damaging	Het
Slc9a2	A	T	1: 40,781,781 (GRCm39)	I337F	possibly damaging	Het
Sostdc1	C	A	12: 36,364,407 (GRCm39)	P39T	probably benign	Het
Speg	A	G	1: 75,394,616 (GRCm39)	N1775S	probably benign	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Sptbn2	A	T	19: 4,794,208 (GRCm39)	R1471W	possibly damaging	Het
Thada	T	C	17: 84,723,751 (GRCm39)	E1101G	probably damaging	Het
Trpm6	G	A	19: 18,807,354 (GRCm39)	A1033T	probably damaging	Het
Ttll6	G	A	11: 96,049,553 (GRCm39)	R757H	probably benign	Het

Other mutations in Or8b1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Or8b1c	APN	9	38,384,338 (GRCm39)	missense	possibly damaging	0.52
IGL03168:Or8b1c	APN	9	38,384,315 (GRCm39)	missense	probably benign
R0003:Or8b1c	UTSW	9	38,384,612 (GRCm39)	missense	probably benign	0.24
R0062:Or8b1c	UTSW	9	38,384,554 (GRCm39)	missense	probably benign	0.03
R0625:Or8b1c	UTSW	9	38,384,504 (GRCm39)	missense	possibly damaging	0.90
R0744:Or8b1c	UTSW	9	38,384,081 (GRCm39)	missense	probably benign	0.04
R0836:Or8b1c	UTSW	9	38,384,081 (GRCm39)	missense	probably benign	0.04
R2085:Or8b1c	UTSW	9	38,384,223 (GRCm39)	missense	probably damaging	1.00
R2898:Or8b1c	UTSW	9	38,384,271 (GRCm39)	missense	probably damaging	0.99
R4462:Or8b1c	UTSW	9	38,384,360 (GRCm39)	missense	probably benign	0.32
R4655:Or8b1c	UTSW	9	38,384,120 (GRCm39)	missense	probably damaging	0.99
R5209:Or8b1c	UTSW	9	38,384,817 (GRCm39)	missense	possibly damaging	0.52
R5759:Or8b1c	UTSW	9	38,384,831 (GRCm39)	missense	possibly damaging	0.73
R6501:Or8b1c	UTSW	9	38,384,585 (GRCm39)	missense	possibly damaging	0.88
R6934:Or8b1c	UTSW	9	38,384,472 (GRCm39)	missense	probably benign
R6999:Or8b1c	UTSW	9	38,384,535 (GRCm39)	missense	probably damaging	1.00
R7295:Or8b1c	UTSW	9	38,384,739 (GRCm39)	missense	probably benign	0.07
R7677:Or8b1c	UTSW	9	38,384,831 (GRCm39)	missense	possibly damaging	0.73
R7708:Or8b1c	UTSW	9	38,384,681 (GRCm39)	missense	probably damaging	1.00
R7843:Or8b1c	UTSW	9	38,384,243 (GRCm39)	missense	probably damaging	0.99
R8947:Or8b1c	UTSW	9	38,384,685 (GRCm39)	missense	probably damaging	1.00
R8998:Or8b1c	UTSW	9	38,384,787 (GRCm39)	missense	probably benign	0.08
R9215:Or8b1c	UTSW	9	38,384,694 (GRCm39)	missense	probably damaging	1.00
R9607:Or8b1c	UTSW	9	38,384,913 (GRCm39)	missense	probably damaging	1.00
X0053:Or8b1c	UTSW	9	38,384,472 (GRCm39)	missense	probably benign
X0065:Or8b1c	UTSW	9	38,384,302 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ACATCATTGTGCCCACTATCAC -3'
(R):5'- GCTAATATTGGTTTCAGACGGG -3'

Sequencing Primer
(F):5'- ATCTCTTATGGTTTTATCATCGCAAG -3'
(R):5'- AATATTGGTTTCAGACGGGTAAGTAG -3'

Posted On

2018-06-06