Mutagenetix > Incidental Mutation

Incidental Mutation 'R8219:Or8c16'

636559

Institutional Source

Beutler Lab

Gene Symbol

Or8c16

Ensembl Gene

ENSMUSG00000070311

Gene Name

olfactory receptor family 8 subfamily C member 16

Synonyms

Olfr894, MOR170-5, GA_x6K02T2PVTD-31898993-31899934

MMRRC Submission

067659-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38130114-38131062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38130668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 183 (D183A)

Ref Sequence

ENSEMBL: ENSMUSP00000091389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093866] [ENSMUST00000212992]

AlphaFold

Q9EQB2

Predicted Effect

probably damaging
Transcript: ENSMUST00000093866
AA Change: D183A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091389
Gene: ENSMUSG00000070311
AA Change: D183A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	8.8e-47	PFAM
Pfam:7tm_1	44	293	1.1e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212992
AA Change: D180A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

100% (62/62)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,833,363 (GRCm39)	S80T	unknown	Het
Acnat1	T	A	4: 49,447,748 (GRCm39)	I278F	probably benign	Het
Adgrf5	A	T	17: 43,760,750 (GRCm39)	Q815L	probably benign	Het
Aff1	T	A	5: 103,994,199 (GRCm39)	Y1022N	probably damaging	Het
Ahi1	A	G	10: 20,950,335 (GRCm39)	K1034E	probably benign	Het
Ano8	A	T	8: 71,933,357 (GRCm39)	L645Q	unknown	Het
Atg9b	A	G	5: 24,591,330 (GRCm39)	L756P	probably damaging	Het
Atp2b2	A	T	6: 113,770,811 (GRCm39)	I411N	probably damaging	Het
Bmp6	T	A	13: 38,529,963 (GRCm39)	C19S	unknown	Het
Borcs5	A	G	6: 134,621,313 (GRCm39)	H27R	probably benign	Het
Cachd1	C	A	4: 100,848,159 (GRCm39)	D1091E	probably benign	Het
Ccdc186	T	A	19: 56,781,777 (GRCm39)	M801L	probably benign	Het
Clcn3	A	T	8: 61,376,000 (GRCm39)	M658K	probably damaging	Het
Col1a1	C	T	11: 94,834,184 (GRCm39)	R500C	probably damaging	Het
Cul4a	T	A	8: 13,196,540 (GRCm39)	D731E	possibly damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
E2f7	T	A	10: 110,595,704 (GRCm39)	V133E	probably damaging	Het
Fam161b	T	C	12: 84,393,648 (GRCm39)	E575G	probably benign	Het
Fubp1	T	A	3: 151,926,103 (GRCm39)	V275D	probably damaging	Het
Gabrg1	T	A	5: 70,931,643 (GRCm39)	R367*	probably null	Het
Gm6902	G	A	7: 22,973,143 (GRCm39)	A128V	probably benign	Het
Gnptab	A	G	10: 88,269,654 (GRCm39)	T786A	probably benign	Het
Golga2	A	G	2: 32,196,492 (GRCm39)	N981D	probably damaging	Het
Gsap	A	T	5: 21,456,113 (GRCm39)	I437L	probably benign	Het
Gulp1	A	G	1: 44,793,501 (GRCm39)		probably null	Het
Kcnn1	T	C	8: 71,305,499 (GRCm39)	Y237C	probably damaging	Het
Klhl28	A	T	12: 64,998,431 (GRCm39)	N354K	probably benign	Het
Lama3	T	C	18: 12,572,417 (GRCm39)	Y541H	probably benign	Het
Lamc1	A	G	1: 153,123,073 (GRCm39)	Y706H	probably damaging	Het
Lima1	G	T	15: 99,678,671 (GRCm39)	T590K	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mrgprb8	G	A	7: 48,038,649 (GRCm39)	V107M	possibly damaging	Het
Mrpl3	T	A	9: 104,934,271 (GRCm39)	N139K	possibly damaging	Het
Nhsl3	T	A	4: 129,141,946 (GRCm39)	D65V	possibly damaging	Het
Nudt16	T	A	9: 105,007,636 (GRCm39)	N161I	probably damaging	Het
Obscn	G	A	11: 59,013,574 (GRCm39)	S1091L	probably benign	Het
Oog4	T	C	4: 143,166,508 (GRCm39)	M99V	probably benign	Het
Or5b105	A	C	19: 13,080,284 (GRCm39)	L122R	probably damaging	Het
Osbpl6	A	T	2: 76,386,247 (GRCm39)	D303V	probably damaging	Het
Pcdhb21	T	C	18: 37,647,708 (GRCm39)	F279S	probably damaging	Het
Peg3	G	A	7: 6,711,364 (GRCm39)	T1286I	probably benign	Het
Phax	A	G	18: 56,708,754 (GRCm39)	N106S	probably damaging	Het
Pkdrej	A	G	15: 85,705,493 (GRCm39)	Y148H	probably damaging	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptprn2	C	A	12: 117,148,357 (GRCm39)	Q706K	probably benign	Het
Rdh11	T	G	12: 79,235,880 (GRCm39)	K23Q	probably benign	Het
Rit2	T	A	18: 31,108,547 (GRCm39)	E146V	probably damaging	Het
Rnf141	T	C	7: 110,436,472 (GRCm39)		probably benign	Het
Sars1	T	A	3: 108,352,378 (GRCm39)	E24V	probably benign	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Slc10a5	G	T	3: 10,400,384 (GRCm39)	P92Q	probably benign	Het
Slc24a5	A	T	2: 124,927,575 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,757,561 (GRCm39)	Y517C	probably damaging	Het
Slc6a5	A	G	7: 49,561,911 (GRCm39)	M148V	probably benign	Het
Sorl1	T	C	9: 41,952,857 (GRCm39)		probably null	Het
Tgm4	A	T	9: 122,874,117 (GRCm39)	Y119F	probably benign	Het
Tgm6	A	G	2: 129,993,200 (GRCm39)	K562R	probably benign	Het
Tlr3	T	C	8: 45,851,016 (GRCm39)	E627G	possibly damaging	Het
Tmprss11f	A	G	5: 86,677,878 (GRCm39)	L297P	probably damaging	Het
Tpbgl	T	C	7: 99,274,978 (GRCm39)	H293R	probably benign	Het
Trank1	A	C	9: 111,193,977 (GRCm39)	K667T	probably damaging	Het
Trpm1	A	T	7: 63,851,699 (GRCm39)	Q139L	probably benign	Het
Ttf2	T	G	3: 100,869,879 (GRCm39)	K398T	possibly damaging	Het
Xpa	A	T	4: 46,183,150 (GRCm39)	M213K	probably benign	Het
Zmym2	T	A	14: 57,163,316 (GRCm39)	S623T	probably benign	Het

Other mutations in Or8c16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Or8c16	APN	9	38,131,039 (GRCm39)	missense	probably benign	0.18
IGL01772:Or8c16	APN	9	38,130,905 (GRCm39)	missense	probably damaging	0.97
IGL02253:Or8c16	APN	9	38,131,031 (GRCm39)	missense	probably benign	0.01
IGL02279:Or8c16	APN	9	38,130,389 (GRCm39)	missense	probably benign	0.00
IGL03031:Or8c16	APN	9	38,130,361 (GRCm39)	missense	probably damaging	0.99
IGL03163:Or8c16	APN	9	38,130,710 (GRCm39)	missense	probably benign	0.00
R0417:Or8c16	UTSW	9	38,130,751 (GRCm39)	missense	probably benign	0.01
R0458:Or8c16	UTSW	9	38,130,344 (GRCm39)	missense	probably damaging	0.97
R1498:Or8c16	UTSW	9	38,130,676 (GRCm39)	missense	probably damaging	1.00
R1765:Or8c16	UTSW	9	38,130,548 (GRCm39)	missense	probably benign	0.01
R2020:Or8c16	UTSW	9	38,130,728 (GRCm39)	missense	possibly damaging	0.47
R2282:Or8c16	UTSW	9	38,130,124 (GRCm39)	missense	probably benign	0.01
R3928:Or8c16	UTSW	9	38,130,131 (GRCm39)	start codon destroyed	probably null	0.63
R4716:Or8c16	UTSW	9	38,130,714 (GRCm39)	missense	probably damaging	0.99
R4911:Or8c16	UTSW	9	38,130,392 (GRCm39)	missense	probably damaging	0.99
R5148:Or8c16	UTSW	9	38,130,317 (GRCm39)	missense	probably benign	0.01
R7677:Or8c16	UTSW	9	38,130,324 (GRCm39)	missense	probably damaging	1.00
R7971:Or8c16	UTSW	9	38,130,843 (GRCm39)	missense	probably benign	0.00
R8754:Or8c16	UTSW	9	38,130,865 (GRCm39)	missense	possibly damaging	0.56
R9248:Or8c16	UTSW	9	38,130,706 (GRCm39)	missense	probably benign	0.04
R9256:Or8c16	UTSW	9	38,130,498 (GRCm39)	nonsense	probably null
R9352:Or8c16	UTSW	9	38,130,683 (GRCm39)	missense	probably damaging	1.00
R9593:Or8c16	UTSW	9	38,130,868 (GRCm39)	missense	probably benign	0.20
X0050:Or8c16	UTSW	9	38,130,446 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCAATGGCCTATGATCGC -3'
(R):5'- GACTAACAGTTATGATGTGAGACCC -3'

Sequencing Primer
(F):5'- ATGATCGCTATGTGGCCATC -3'
(R):5'- GTGAGACCCACAAGTGCC -3'

Posted On

2020-07-13