Mutagenetix > Incidental Mutation

Incidental Mutation 'R6746:Or8k16'

532814

Institutional Source

Beutler Lab

Gene Symbol

Or8k16

Ensembl Gene

ENSMUSG00000050603

Gene Name

olfactory receptor family 8 subfamily K member 16

Synonyms

Olfr1008, GA_x6K02T2Q125-47170431-47171372, MOR187-3

MMRRC Submission

044863-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6746 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85519775-85520716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85519952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 60 (Y60H)

Ref Sequence

ENSEMBL: ENSMUSP00000061191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054868]

AlphaFold

Q8VGC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000054868
AA Change: Y60H

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

SMART Domains

Protein: ENSMUSP00000061191
Gene: ENSMUSG00000050603
AA Change: Y60H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.9e-46	PFAM
Pfam:7tm_1	41	290	2.4e-14	PFAM

Meta Mutation Damage Score

0.2138

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

100% (58/58)

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
Abca17	A	T	17: 24,565,195 (GRCm39)	L79*	probably null	Het
Acot3	A	G	12: 84,100,248 (GRCm39)	N8S	probably benign	Het
Adora2a	T	C	10: 75,169,442 (GRCm39)	V302A	probably benign	Het
Anpep	A	C	7: 79,488,933 (GRCm39)		probably null	Het
Arrb1	A	G	7: 99,250,357 (GRCm39)	K392E	probably benign	Het
Atp8a1	A	T	5: 67,908,392 (GRCm39)	N444K	probably benign	Het
Bltp3b	T	A	10: 89,623,020 (GRCm39)	N298K	probably benign	Het
Brinp2	C	T	1: 158,094,160 (GRCm39)	G181R	probably benign	Het
Cacna1g	A	T	11: 94,300,253 (GRCm39)	C2184*	probably null	Het
Cacna1h	C	T	17: 25,600,524 (GRCm39)	A1606T	probably damaging	Het
Ccdc30	T	C	4: 119,213,915 (GRCm39)	T205A	probably benign	Het
Celsr1	A	G	15: 85,915,696 (GRCm39)	I759T	probably damaging	Het
Chaf1a	A	G	17: 56,370,404 (GRCm39)	D623G	possibly damaging	Het
Col6a3	G	T	1: 90,706,767 (GRCm39)	N2115K	unknown	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Erich6	T	C	3: 58,523,987 (GRCm39)	D629G	possibly damaging	Het
Fahd1	G	T	17: 25,068,915 (GRCm39)	A54E	probably damaging	Het
Flrt3	C	T	2: 140,501,945 (GRCm39)	R561Q	probably damaging	Het
Grm6	A	T	11: 50,747,790 (GRCm39)	D334V	probably damaging	Het
Helb	A	T	10: 119,941,373 (GRCm39)	D438E	probably damaging	Het
Hmgcs1	T	C	13: 120,156,585 (GRCm39)		probably null	Het
Hnf4g	C	A	3: 3,722,170 (GRCm39)	Y441*	probably null	Het
Hspa13	A	T	16: 75,561,925 (GRCm39)	N91K	possibly damaging	Het
Ilvbl	T	C	10: 78,413,057 (GRCm39)	I193T	possibly damaging	Het
Itga7	T	C	10: 128,785,341 (GRCm39)	V848A	probably benign	Het
Kash5	C	T	7: 44,849,735 (GRCm39)	V63I	probably benign	Het
Lpin1	A	G	12: 16,615,529 (GRCm39)	M341T	probably benign	Het
Lypd5	G	T	7: 24,052,531 (GRCm39)		probably null	Het
Mrgprb1	A	C	7: 48,097,645 (GRCm39)	V89G	possibly damaging	Het
Nsun7	T	C	5: 66,441,080 (GRCm39)		probably null	Het
Oasl1	T	A	5: 115,075,242 (GRCm39)	V434E	probably damaging	Het
Or2ak6	G	A	11: 58,593,369 (GRCm39)	V281I	probably benign	Het
Or7g22	A	G	9: 19,048,774 (GRCm39)	M162V	probably benign	Het
Otor	T	A	2: 142,921,955 (GRCm39)		probably null	Het
Pik3cg	G	A	12: 32,244,757 (GRCm39)	T899M	probably damaging	Het
Plaat5	A	G	19: 7,590,695 (GRCm39)	D74G	probably benign	Het
Pld2	C	A	11: 70,431,933 (GRCm39)	L52M	probably damaging	Het
Pon3	A	T	6: 5,230,786 (GRCm39)	M247K	possibly damaging	Het
Ppfia2	C	A	10: 106,742,319 (GRCm39)	Y1037*	probably null	Het
Ppm1m	A	T	9: 106,075,351 (GRCm39)	C99*	probably null	Het
Prss44	A	T	9: 110,644,361 (GRCm39)	*145C	probably null	Het
Ptpro	T	A	6: 137,371,821 (GRCm39)	Y613N	probably damaging	Het
Ralgapb	T	G	2: 158,318,056 (GRCm39)	V866G	probably damaging	Het
Rassf6	C	A	5: 90,757,633 (GRCm39)	R109L	possibly damaging	Het
Rbm4b	A	C	19: 4,812,031 (GRCm39)	T147P	probably benign	Het
Rpl7l1	T	C	17: 47,090,322 (GRCm39)	K104R	probably benign	Het
Ryr1	A	T	7: 28,816,829 (GRCm39)	I69N	possibly damaging	Het
Scd1	G	T	19: 44,394,927 (GRCm39)	F99L	probably benign	Het
Semp2l1	A	T	1: 32,585,844 (GRCm39)	I22N	probably benign	Het
Spint2	A	T	7: 28,958,848 (GRCm39)	S66T	probably benign	Het
Tarm1	T	A	7: 3,550,978 (GRCm39)	I2F	probably benign	Het
Tenm4	T	C	7: 96,542,067 (GRCm39)	V1860A	probably damaging	Het
Usp38	A	G	8: 81,740,920 (GRCm39)	I49T	possibly damaging	Het
Vars2	A	G	17: 35,971,294 (GRCm39)		probably null	Het
Vmn2r27	T	G	6: 124,177,552 (GRCm39)	H484P	possibly damaging	Het
Wdr35	T	A	12: 9,053,982 (GRCm39)		probably null	Het
Zfp937	A	T	2: 150,081,343 (GRCm39)	K458*	probably null	Het

Other mutations in Or8k16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Or8k16	APN	2	85,520,007 (GRCm39)	missense	probably benign	0.01
IGL02192:Or8k16	APN	2	85,520,472 (GRCm39)	missense	possibly damaging	0.80
IGL02560:Or8k16	APN	2	85,519,863 (GRCm39)	missense	possibly damaging	0.79
IGL02726:Or8k16	APN	2	85,520,554 (GRCm39)	missense	possibly damaging	0.94
IGL02756:Or8k16	APN	2	85,520,402 (GRCm39)	missense	probably damaging	0.99
R0463:Or8k16	UTSW	2	85,520,183 (GRCm39)	missense	possibly damaging	0.94
R0961:Or8k16	UTSW	2	85,519,790 (GRCm39)	missense	probably benign	0.00
R0964:Or8k16	UTSW	2	85,520,709 (GRCm39)	missense	probably benign
R1259:Or8k16	UTSW	2	85,519,875 (GRCm39)	missense	probably damaging	0.98
R1756:Or8k16	UTSW	2	85,520,427 (GRCm39)	missense	probably damaging	1.00
R1871:Or8k16	UTSW	2	85,520,655 (GRCm39)	missense	probably damaging	1.00
R1882:Or8k16	UTSW	2	85,519,950 (GRCm39)	missense	probably damaging	1.00
R6573:Or8k16	UTSW	2	85,520,343 (GRCm39)	missense	probably damaging	0.99
R6640:Or8k16	UTSW	2	85,520,279 (GRCm39)	missense	probably damaging	1.00
R7045:Or8k16	UTSW	2	85,520,255 (GRCm39)	missense	possibly damaging	0.49
R7347:Or8k16	UTSW	2	85,520,181 (GRCm39)	missense	probably damaging	0.99
R7875:Or8k16	UTSW	2	85,519,838 (GRCm39)	missense	probably benign	0.14
R8030:Or8k16	UTSW	2	85,520,063 (GRCm39)	missense	probably damaging	1.00
R9161:Or8k16	UTSW	2	85,520,231 (GRCm39)	missense	probably benign	0.01
R9193:Or8k16	UTSW	2	85,520,644 (GRCm39)	nonsense	probably null
R9399:Or8k16	UTSW	2	85,520,395 (GRCm39)	missense	probably damaging	0.97
R9460:Or8k16	UTSW	2	85,520,359 (GRCm39)	missense	probably benign	0.02
R9467:Or8k16	UTSW	2	85,520,626 (GRCm39)	missense
R9685:Or8k16	UTSW	2	85,519,866 (GRCm39)	missense	probably damaging	1.00
Z1177:Or8k16	UTSW	2	85,520,024 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TGGGGCAACAGAATACAACATC -3'
(R):5'- TGAGACATGATCACACTGTAGAGC -3'

Sequencing Primer
(F):5'- GAATACAACATCACTGCCTGGGTTC -3'
(R):5'- TTGCAGATGGCCACATAGC -3'

Posted On

2018-08-29