Mutagenetix > Incidental Mutation

Incidental Mutation 'R0625:Or8b1c'

57427

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

038814-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R0625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38384045-38384977 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38384504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 154 (S154P)

Ref Sequence

ENSEMBL: ENSMUSP00000150357 (fasta)

Gene Model

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

AlphaFold

L7N1X5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051111
AA Change: S154P

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057998
Gene: ENSMUSG00000096794
AA Change: S154P

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

possibly damaging
Transcript: ENSMUST00000214377
AA Change: S154P

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000216724

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	T	C	9: 53,319,365 (GRCm39)	S2P	probably benign	Het
Abca16	A	C	7: 120,035,116 (GRCm39)	T301P	probably damaging	Het
Acer2	A	G	4: 86,805,399 (GRCm39)	D121G	possibly damaging	Het
Adgrd1	T	C	5: 129,248,995 (GRCm39)		probably null	Het
Arhgap11a	T	C	2: 113,672,056 (GRCm39)	I249V	probably benign	Het
Arhgap22	A	G	14: 33,088,671 (GRCm39)	E219G	probably benign	Het
C2cd4b	T	A	9: 67,667,033 (GRCm39)	S10T	probably benign	Het
Cnot6	A	T	11: 49,573,998 (GRCm39)	I224N	probably damaging	Het
Ctrc	T	C	4: 141,568,829 (GRCm39)	T125A	probably damaging	Het
Cxxc5	T	G	18: 35,991,642 (GRCm39)	S14R	unknown	Het
Cyp4f37	T	G	17: 32,853,652 (GRCm39)	F445L	probably damaging	Het
Dcbld1	T	G	10: 52,188,946 (GRCm39)	I186S	probably benign	Het
Dmxl2	T	C	9: 54,289,986 (GRCm39)	T2510A	probably benign	Het
Dnah3	A	G	7: 119,671,110 (GRCm39)	I591T	possibly damaging	Het
Dock5	A	T	14: 68,078,612 (GRCm39)	I204N	probably benign	Het
Dysf	G	A	6: 84,088,969 (GRCm39)		probably null	Het
Erich5	A	G	15: 34,471,515 (GRCm39)	E248G	probably damaging	Het
Fhip1a	A	G	3: 85,637,807 (GRCm39)	V164A	possibly damaging	Het
Foxm1	A	G	6: 128,350,834 (GRCm39)	S712G	probably damaging	Het
Frmpd1	A	G	4: 45,284,055 (GRCm39)	T959A	probably benign	Het
Gfra4	C	T	2: 130,882,176 (GRCm39)	V277I	probably null	Het
Hacd4	T	C	4: 88,353,247 (GRCm39)	I82V	probably benign	Het
Itih2	C	T	2: 10,128,225 (GRCm39)	V159I	possibly damaging	Het
Itpr2	T	A	6: 146,068,149 (GRCm39)	M2410L	probably benign	Het
Marchf11	A	G	15: 26,311,129 (GRCm39)	I202V	probably damaging	Het
Marchf3	A	G	18: 56,944,902 (GRCm39)		probably null	Het
Med12l	G	A	3: 59,154,858 (GRCm39)	E1135K	probably damaging	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mlx	T	C	11: 100,978,608 (GRCm39)	L78P	possibly damaging	Het
Muc5b	T	C	7: 141,400,164 (GRCm39)	C473R	unknown	Het
N4bp2l1	T	A	5: 150,500,210 (GRCm39)	R66*	probably null	Het
Nes	A	G	3: 87,884,479 (GRCm39)	T913A	possibly damaging	Het
Oas1a	T	C	5: 121,037,322 (GRCm39)	E235G	probably damaging	Het
Or5p56	T	C	7: 107,590,396 (GRCm39)	S275P	probably damaging	Het
Or8i2	T	A	2: 86,851,964 (GRCm39)	H308L	probably benign	Het
Parn	C	T	16: 13,458,158 (GRCm39)	V286I	probably benign	Het
Paxip1	G	A	5: 27,970,940 (GRCm39)	Q470*	probably null	Het
Phc2	C	G	4: 128,617,503 (GRCm39)	H510D	possibly damaging	Het
Pla2g4f	T	A	2: 120,135,522 (GRCm39)	D384V	probably damaging	Het
Plpbp	A	T	8: 27,535,159 (GRCm39)	N68I	probably damaging	Het
Podxl2	G	A	6: 88,826,937 (GRCm39)	A123V	possibly damaging	Het
Pole	A	T	5: 110,473,416 (GRCm39)	T1737S	possibly damaging	Het
Ppp3cc	T	C	14: 70,462,476 (GRCm39)	E396G	probably damaging	Het
Pramel7	T	A	2: 87,321,352 (GRCm39)	I228F	probably benign	Het
Prl7d1	A	T	13: 27,894,123 (GRCm39)	C149S	probably benign	Het
Qtrt1	G	T	9: 21,329,584 (GRCm39)	M217I	probably benign	Het
Sec24a	T	A	11: 51,620,281 (GRCm39)	D456V	probably damaging	Het
Shox2	T	G	3: 66,888,877 (GRCm39)		probably null	Het
Skint2	T	A	4: 112,481,283 (GRCm39)	S49T	probably damaging	Het
Smarca5	A	G	8: 81,447,315 (GRCm39)		probably null	Het
Sorcs2	T	A	5: 36,181,916 (GRCm39)	D1068V	possibly damaging	Het
Tmem114	T	C	16: 8,229,966 (GRCm39)		probably null	Het
Ttc7b	T	A	12: 100,321,305 (GRCm39)	M24L	probably benign	Het
Ttll3	A	G	6: 113,385,864 (GRCm39)		probably null	Het
Usp7	C	T	16: 8,522,846 (GRCm39)	D102N	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
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
R6453:Or8b1c	UTSW	9	38,384,871 (GRCm39)	missense	probably benign	0.18
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'- AACCAAGGAGTCCGATCTCCAGTG -3'
(R):5'- GGCACAATGATGTTGATGCCCAC -3'

Sequencing Primer
(F):5'- ATTTCCTACAGAGGATGCATGGC -3'
(R):5'- CAACAACAAATACCTCCAGTTCATTG -3'

Posted On

2013-07-11