Mutagenetix > Incidental Mutation

Incidental Mutation 'R2269:Or10ak16'

242293

Institutional Source

Beutler Lab

Gene Symbol

Or10ak16

Ensembl Gene

ENSMUSG00000073768

Gene Name

olfactory receptor family 10 subfamily AK member 16

Synonyms

Olfr1330, MOR259-8, GA_x6K02T2QD9B-18644371-18643424

MMRRC Submission

040269-MU

Accession Numbers

Essential gene?

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

Stock #

R2269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118750282-118751229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118751071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 264 (R264W)

Ref Sequence

ENSEMBL: ENSMUSP00000101968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094830] [ENSMUST00000105035] [ENSMUST00000106361]

AlphaFold

Q8VEY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000094830
AA Change: R264W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092425
Gene: ENSMUSG00000073768
AA Change: R264W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	1.2e-53	PFAM
Pfam:7TM_GPCR_Srsx	38	308	1.4e-6	PFAM
Pfam:7tm_1	44	293	1.6e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105035
AA Change: R264W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100652
Gene: ENSMUSG00000073768
AA Change: R264W

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	38	307	6.4e-8	PFAM
Pfam:7tm_1	44	293	2.9e-31	PFAM
Pfam:7tm_4	142	286	6.7e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106361
AA Change: R264W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101968
Gene: ENSMUSG00000073768
AA Change: R264W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	6.1e-56	PFAM
Pfam:7tm_1	43	292	3.9e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216386

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (79/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Abca8a	A	C	11: 109,917,718 (GRCm39)	F1574V	probably damaging	Het
Adh6a	A	T	3: 138,034,857 (GRCm39)	I329L	probably benign	Het
Agap2	T	A	10: 126,918,297 (GRCm39)		probably benign	Het
Ager	A	T	17: 34,818,124 (GRCm39)	I185F	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Arhgef16	T	A	4: 154,369,490 (GRCm39)	H329L	probably damaging	Het
Astn1	T	C	1: 158,329,669 (GRCm39)	Y175H	probably damaging	Het
Banp	A	G	8: 122,702,662 (GRCm39)	T70A	probably benign	Het
Bcl11b	T	C	12: 107,881,910 (GRCm39)	T802A	possibly damaging	Het
Ces2a	A	T	8: 105,466,822 (GRCm39)	I65F	probably benign	Het
Cflar	G	A	1: 58,780,206 (GRCm39)		probably null	Het
Clec16a	G	A	16: 10,462,650 (GRCm39)	R656H	probably damaging	Het
Cntn1	A	G	15: 92,192,863 (GRCm39)		probably benign	Het
Coasy	A	G	11: 100,976,708 (GRCm39)	T493A	probably benign	Het
Col16a1	C	A	4: 129,946,711 (GRCm39)	H111Q	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyp3a41b	A	T	5: 145,514,976 (GRCm39)	V83D	probably benign	Het
D2hgdh	C	T	1: 93,763,157 (GRCm39)	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Decr2	C	A	17: 26,302,858 (GRCm39)	V173L	probably benign	Het
Defb11	A	G	8: 22,395,444 (GRCm39)	*78Q	probably null	Het
Dock3	C	A	9: 106,818,525 (GRCm39)	V1190F	probably damaging	Het
Dusp1	A	T	17: 26,726,093 (GRCm39)	I200N	probably damaging	Het
Efna1	G	A	3: 89,183,646 (GRCm39)	A60V	possibly damaging	Het
Egfl8	C	T	17: 34,832,832 (GRCm39)	V253M	probably damaging	Het
Epb41	T	A	4: 131,691,458 (GRCm39)	N623I	probably benign	Het
Fbxw22	C	T	9: 109,213,062 (GRCm39)	R295K	probably benign	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gbe1	C	T	16: 70,233,840 (GRCm39)	A239V	probably damaging	Het
Gpatch3	C	T	4: 133,311,118 (GRCm39)	A518V	possibly damaging	Het
Gpc6	A	T	14: 118,125,932 (GRCm39)		probably null	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,299 (GRCm39)	Y138H	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Klhl31	A	G	9: 77,557,440 (GRCm39)	D52G	possibly damaging	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lrrc43	A	T	5: 123,641,354 (GRCm39)	T513S	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh5	T	C	15: 73,664,997 (GRCm39)	N258D	probably benign	Het
Mrpl28	T	C	17: 26,345,285 (GRCm39)	V235A	probably benign	Het
Mtbp	G	A	15: 55,432,556 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,455,362 (GRCm39)	K92E	possibly damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Nav1	A	T	1: 135,399,974 (GRCm39)	L532*	probably null	Het
Or1e23	A	G	11: 73,407,309 (GRCm39)	S239P	probably damaging	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Pappa2	A	G	1: 158,684,841 (GRCm39)	M766T	probably damaging	Het
Pkhd1	C	T	1: 20,604,759 (GRCm39)		probably null	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Pxdn	T	A	12: 30,055,774 (GRCm39)	V1220E	probably damaging	Het
Robo1	T	A	16: 72,775,660 (GRCm39)	F728L	probably benign	Het
Rtel1	G	T	2: 180,977,796 (GRCm39)	Q292H	probably benign	Het
Sh3bp4	G	A	1: 89,073,314 (GRCm39)	V721I	possibly damaging	Het
Slc2a10	T	A	2: 165,356,701 (GRCm39)	C120*	probably null	Het
Srd5a2	T	C	17: 74,331,485 (GRCm39)	R171G	probably damaging	Het
Srsf4	T	C	4: 131,624,993 (GRCm39)	V130A	probably damaging	Het
Styk1	T	C	6: 131,289,539 (GRCm39)	E25G	probably benign	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tbx1	T	C	16: 18,400,744 (GRCm39)		probably null	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tmem252	T	C	19: 24,651,455 (GRCm39)	I8T	probably benign	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r107	T	C	17: 20,595,817 (GRCm39)	I790T	possibly damaging	Het
Vmn2r77	T	C	7: 86,460,897 (GRCm39)	V741A	probably benign	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Ylpm1	T	A	12: 85,061,824 (GRCm39)	V575E	unknown	Het
Zbp1	T	A	2: 173,060,616 (GRCm39)		probably benign	Het
Zfp280d	C	A	9: 72,209,052 (GRCm39)		probably benign	Het
Zkscan5	A	G	5: 145,142,277 (GRCm39)	Y58C	probably damaging	Het

Other mutations in Or10ak16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01385:Or10ak16	APN	4	118,750,748 (GRCm39)	missense	probably benign	0.00
IGL01642:Or10ak16	APN	4	118,750,658 (GRCm39)	missense	probably damaging	1.00
R0402:Or10ak16	UTSW	4	118,750,426 (GRCm39)	missense	possibly damaging	0.95
R0418:Or10ak16	UTSW	4	118,750,448 (GRCm39)	missense	possibly damaging	0.51
R0646:Or10ak16	UTSW	4	118,750,687 (GRCm39)	missense	probably damaging	0.96
R1075:Or10ak16	UTSW	4	118,750,402 (GRCm39)	missense	probably damaging	1.00
R1743:Or10ak16	UTSW	4	118,750,723 (GRCm39)	missense	probably benign
R1950:Or10ak16	UTSW	4	118,750,537 (GRCm39)	missense	probably benign	0.22
R2265:Or10ak16	UTSW	4	118,751,071 (GRCm39)	missense	probably damaging	1.00
R2268:Or10ak16	UTSW	4	118,751,071 (GRCm39)	missense	probably damaging	1.00
R4648:Or10ak16	UTSW	4	118,751,147 (GRCm39)	missense	possibly damaging	0.84
R5635:Or10ak16	UTSW	4	118,750,832 (GRCm39)	missense	probably benign	0.31
R6881:Or10ak16	UTSW	4	118,750,304 (GRCm39)	missense	probably damaging	1.00
R7351:Or10ak16	UTSW	4	118,751,033 (GRCm39)	missense	probably benign	0.05
R7412:Or10ak16	UTSW	4	118,750,327 (GRCm39)	missense	possibly damaging	0.83
R8402:Or10ak16	UTSW	4	118,750,716 (GRCm39)	missense	probably benign	0.01
R9355:Or10ak16	UTSW	4	118,750,784 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGCCTGGCTTGCATGGATAC -3'
(R):5'- CAGTGTTCATGTAAGGATTCACC -3'

Sequencing Primer
(F):5'- CCTGGCTTGCATGGATACTCATG -3'
(R):5'- GATTCACCATCCTGATTCAGTAGTC -3'

Posted On

2014-10-16