Mutagenetix > Incidental Mutation

Incidental Mutation 'R2268:Or10ak16'

242217

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

040268-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R2268 (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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	T	14: 8,253,496 (GRCm38)	M217K	probably damaging	Het
Adam34	C	T	8: 44,103,647 (GRCm39)	R666H	probably benign	Het
Adap2	G	T	11: 80,056,552 (GRCm39)	Q188H	probably damaging	Het
Adgrb3	T	C	1: 25,150,898 (GRCm39)	T872A	possibly damaging	Het
Ahnak	A	G	19: 8,987,938 (GRCm39)	K3074R	possibly damaging	Het
Ano7	A	T	1: 93,308,161 (GRCm39)	D64V	possibly damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Arl13a	A	G	X: 133,106,162 (GRCm39)	Q236R	possibly damaging	Het
Astn1	T	C	1: 158,329,669 (GRCm39)	Y175H	probably damaging	Het
Atn1	C	G	6: 124,723,203 (GRCm39)		probably benign	Het
Ccser1	C	T	6: 61,547,827 (GRCm39)	T118M	probably damaging	Het
Cenpe	A	G	3: 134,967,397 (GRCm39)	T2180A	probably benign	Het
Col17a1	G	A	19: 47,638,550 (GRCm39)	P1173S	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyp4f17	G	T	17: 32,736,928 (GRCm39)	V87F	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
Dhodh	A	G	8: 110,321,306 (GRCm39)	F360S	possibly damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dynap	C	T	18: 70,374,218 (GRCm39)	A103T	probably benign	Het
Edem2	G	A	2: 155,544,137 (GRCm39)	P538S	probably benign	Het
Egfl8	C	T	17: 34,832,832 (GRCm39)	V253M	probably damaging	Het
Erich6	A	T	3: 58,526,260 (GRCm39)	S581T	probably benign	Het
Fam117b	T	C	1: 59,952,789 (GRCm39)	L156P	probably damaging	Het
Fbn1	G	T	2: 125,163,661 (GRCm39)	A2065E	possibly damaging	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Fzd9	A	G	5: 135,279,148 (GRCm39)	S246P	probably damaging	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
Hmcn1	A	G	1: 150,500,349 (GRCm39)		probably benign	Het
Hps3	G	A	3: 20,067,099 (GRCm39)		probably benign	Het
Hr	A	T	14: 70,795,547 (GRCm39)	D393V	probably benign	Het
Ido2	T	C	8: 25,025,268 (GRCm39)	Y253C	probably damaging	Het
Irs2	T	C	8: 11,057,586 (GRCm39)	E282G	probably damaging	Het
Itih4	A	G	14: 30,614,385 (GRCm39)	D445G	probably damaging	Het
Kif14	T	A	1: 136,447,486 (GRCm39)	C1430*	probably null	Het
Kir3dl1	A	G	X: 135,425,784 (GRCm39)	R53G	probably benign	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lamb1	A	T	12: 31,377,644 (GRCm39)	I1630F	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mink1	G	A	11: 70,492,550 (GRCm39)		probably null	Het
Mmrn2	A	G	14: 34,121,449 (GRCm39)	K773R	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
Mtbp	G	A	15: 55,432,556 (GRCm39)		probably null	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Myoc	C	T	1: 162,476,625 (GRCm39)	T443M	probably damaging	Het
Nav1	A	T	1: 135,399,974 (GRCm39)	L532*	probably null	Het
Nbeal1	T	A	1: 60,370,037 (GRCm39)		probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Opcml	T	C	9: 28,814,651 (GRCm39)	I301T	possibly damaging	Het
Or8b1	T	A	9: 38,399,504 (GRCm39)	Y60N	probably damaging	Het
Pappa2	A	G	1: 158,684,841 (GRCm39)	M766T	probably damaging	Het
Phf8	T	C	X: 150,355,597 (GRCm39)	L520S	possibly damaging	Het
Phka1	A	G	X: 101,584,716 (GRCm39)		probably benign	Het
Ppp2ca	G	A	11: 52,008,913 (GRCm39)	G138R	probably damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Rdh7	A	G	10: 127,720,530 (GRCm39)	S281P	probably benign	Het
Rps17	C	T	7: 80,994,746 (GRCm39)	R5H	probably benign	Het
Scgb1b2	T	A	7: 30,991,201 (GRCm39)		probably benign	Het
Skic3	T	G	13: 76,260,393 (GRCm39)		probably benign	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Snap23	A	G	2: 120,429,793 (GRCm39)	T213A	probably benign	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Srebf1	A	G	11: 60,097,973 (GRCm39)	S44P	probably damaging	Het
St8sia5	T	C	18: 77,320,526 (GRCm39)	S93P	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
Tbc1d22b	A	G	17: 29,818,828 (GRCm39)	H394R	probably damaging	Het
Tbx5	A	T	5: 119,983,174 (GRCm39)		probably null	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Vangl1	A	T	3: 102,104,160 (GRCm39)	Y7N	probably damaging	Het
Vav2	A	T	2: 27,182,667 (GRCm39)		probably null	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r15	A	G	5: 109,441,073 (GRCm39)	Y262H	probably benign	Het
Vmn2r76	T	C	7: 85,879,707 (GRCm39)	M198V	probably benign	Het
Zfp831	A	C	2: 174,486,034 (GRCm39)	R236S	probably benign	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
R2269: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'- GTAGCCTGGCTTGCATGGATAC -3'
(R):5'- GATTCACCATCCTGATTCAGTAGTCC -3'

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

Posted On

2014-10-16