Mutagenetix > Incidental Mutation

Incidental Mutation 'R2085:Or8b1c'

230265

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

040090-MU

Accession Numbers

Essential gene?

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

Stock #

R2085 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38384045-38384977 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38384223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 60 (Y60C)

Ref Sequence

ENSEMBL: ENSMUSP00000150357 (fasta)

Gene Model

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

AlphaFold

L7N1X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000051111
AA Change: Y60C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057998
Gene: ENSMUSG00000096794
AA Change: Y60C

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 damaging
Transcript: ENSMUST00000214377
AA Change: Y60C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216724

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	G	T	11: 69,791,198 (GRCm39)	T127K	possibly damaging	Het
A2m	T	G	6: 121,653,918 (GRCm39)	I1417S	probably damaging	Het
Acad10	A	G	5: 121,787,523 (GRCm39)	I142T	possibly damaging	Het
Adprm	T	A	11: 66,932,678 (GRCm39)	D77V	probably damaging	Het
Apob	C	T	12: 8,062,240 (GRCm39)	T3574I	probably damaging	Het
Bahcc1	A	G	11: 120,178,908 (GRCm39)	K2489R	probably damaging	Het
Bub1b	A	G	2: 118,452,676 (GRCm39)	E443G	possibly damaging	Het
Cd9	A	T	6: 125,440,734 (GRCm39)		probably null	Het
Cgnl1	G	A	9: 71,538,160 (GRCm39)	T1194M	probably damaging	Het
Clec9a	T	C	6: 129,387,274 (GRCm39)	V43A	probably benign	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Dpep3	A	G	8: 106,701,346 (GRCm39)	V401A	probably damaging	Het
Duox2	G	T	2: 122,111,448 (GRCm39)	H1417N	probably damaging	Het
Efhb	C	T	17: 53,733,937 (GRCm39)		probably null	Het
F2r	T	C	13: 95,741,418 (GRCm39)	N39S	probably benign	Het
Fcamr	T	C	1: 130,739,335 (GRCm39)	F212L	probably damaging	Het
Galt	G	A	4: 41,758,162 (GRCm39)	R309Q	probably damaging	Het
Gas2l2	C	A	11: 83,318,209 (GRCm39)	A167S	probably benign	Het
Hecw1	A	T	13: 14,438,672 (GRCm39)	F904I	possibly damaging	Het
Herc2	C	A	7: 55,862,713 (GRCm39)	H4127Q	possibly damaging	Het
Hipk1	T	C	3: 103,657,670 (GRCm39)	T805A	probably benign	Het
Hivep1	A	G	13: 42,337,226 (GRCm39)	E2435G	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hivep2	C	A	10: 14,015,273 (GRCm39)	C1813*	probably null	Het
Hyal4	C	T	6: 24,755,749 (GRCm39)		probably benign	Het
Inpp4b	A	G	8: 82,678,903 (GRCm39)	Y311C	probably damaging	Het
Itih4	A	G	14: 30,614,280 (GRCm39)	Y410C	possibly damaging	Het
Lama2	A	T	10: 27,080,837 (GRCm39)	C995*	probably null	Het
Lingo4	C	A	3: 94,309,552 (GRCm39)	D163E	probably damaging	Het
Malt1	A	G	18: 65,606,218 (GRCm39)	D642G	probably damaging	Het
Mbd4	T	A	6: 115,825,918 (GRCm39)	M358L	probably benign	Het
Mbd5	T	A	2: 49,169,323 (GRCm39)	F1498Y	possibly damaging	Het
Me1	T	C	9: 86,495,607 (GRCm39)	Q280R	probably damaging	Het
Megf9	T	C	4: 70,367,004 (GRCm39)	H326R	probably damaging	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Or13p10	T	C	4: 118,523,301 (GRCm39)	S196P	probably damaging	Het
Or1e1	T	C	11: 73,245,247 (GRCm39)	S223P	possibly damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or5h18	C	T	16: 58,848,232 (GRCm39)	V13I	probably benign	Het
Polr2j	T	C	5: 136,145,625 (GRCm39)	F7L	probably damaging	Het
Ppp1r16a	T	A	15: 76,577,796 (GRCm39)	D303E	probably damaging	Het
Prickle2	T	C	6: 92,353,345 (GRCm39)	E763G	probably damaging	Het
Rdh11	T	C	12: 79,229,556 (GRCm39)	Y239C	possibly damaging	Het
Sdhaf3	A	G	6: 6,956,048 (GRCm39)	R8G	probably benign	Het
Sgk2	T	C	2: 162,854,890 (GRCm39)	S305P	probably damaging	Het
Sptbn2	A	G	19: 4,788,587 (GRCm39)	S1189G	probably benign	Het
Stab2	A	G	10: 86,790,023 (GRCm39)	L581P	probably damaging	Het
Tifab	T	C	13: 56,324,110 (GRCm39)	Q111R	probably damaging	Het
Ubr3	C	T	2: 69,784,108 (GRCm39)	R775C	probably damaging	Het
Usp17lb	T	A	7: 104,489,622 (GRCm39)	Q434L	possibly damaging	Het
Wdr46	G	T	17: 34,160,425 (GRCm39)	E135*	probably null	Het
Zfp318	T	A	17: 46,720,590 (GRCm39)		probably null	Het
Zfp874a	T	A	13: 67,590,967 (GRCm39)	H239L	probably damaging	Het
Zscan29	A	T	2: 121,000,427 (GRCm39)	L60*	probably null	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
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'- CTTGGCCTGGGTTCACAGATTC -3'
(R):5'- AGCGATCATAGGCCATTGAGG -3'

Sequencing Primer
(F):5'- GCCTGGGTTCACAGATTCCTTTAAAG -3'
(R):5'- GCCATTGAGGTCAAAATGTAACACTC -3'

Posted On

2014-09-18