Mutagenetix > Incidental Mutation

Incidental Mutation 'R7412:Or10ak16'

575137

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

045493-MU

Accession Numbers

Essential gene?

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

Stock #

R7412 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118750282-118751229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118750327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 16 (I16F)

Ref Sequence

ENSEMBL: ENSMUSP00000100652 (fasta)

Gene Model

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

AlphaFold

Q8VEY6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094830
AA Change: I16F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092425
Gene: ENSMUSG00000073768
AA Change: I16F

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

possibly damaging
Transcript: ENSMUST00000105035
AA Change: I16F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100652
Gene: ENSMUSG00000073768
AA Change: I16F

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

possibly damaging
Transcript: ENSMUST00000106361
AA Change: I16F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101968
Gene: ENSMUSG00000073768
AA Change: I16F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (71/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,448,691 (GRCm39)	Y335*	probably null	Het
Alpk1	A	T	3: 127,466,143 (GRCm39)	L1121Q	probably damaging	Het
Alpk1	A	G	3: 127,489,382 (GRCm39)	I99T	probably damaging	Het
Ap2a2	T	A	7: 141,206,049 (GRCm39)	F717I	probably damaging	Het
Arhgap33	C	T	7: 30,222,477 (GRCm39)	D1152N	probably benign	Het
Arvcf	A	G	16: 18,220,350 (GRCm39)	D642G	probably benign	Het
Astn1	T	G	1: 158,329,919 (GRCm39)	M258R	probably damaging	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Carmil1	T	C	13: 24,282,793 (GRCm39)	D547G	possibly damaging	Het
Ccdc177	A	G	12: 80,805,792 (GRCm39)	F161L	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cnot10	A	G	9: 114,454,971 (GRCm39)	Y221H	probably damaging	Het
Col6a3	T	A	1: 90,755,855 (GRCm39)	I145F	probably damaging	Het
Crybg2	A	G	4: 133,801,434 (GRCm39)	T865A	probably benign	Het
Cyp4f37	A	G	17: 32,848,818 (GRCm39)	S229G	possibly damaging	Het
Ddx56	G	A	11: 6,211,720 (GRCm39)	T462I	probably damaging	Het
Dhx30	T	C	9: 109,921,966 (GRCm39)	M239V	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ephb6	A	G	6: 41,597,173 (GRCm39)	K994E	probably damaging	Het
Fam83a	A	C	15: 57,849,821 (GRCm39)	T122P	probably benign	Het
Fbxo24	C	A	5: 137,617,885 (GRCm39)	C293F	possibly damaging	Het
Fech	A	T	18: 64,591,255 (GRCm39)	S390T	probably benign	Het
Fras1	A	G	5: 96,762,748 (GRCm39)	H750R	probably benign	Het
Frmpd2	A	G	14: 33,293,926 (GRCm39)	D1364G	probably benign	Het
Ganab	T	C	19: 8,889,892 (GRCm39)	I652T	probably benign	Het
Gm21103	T	A	14: 17,482,943 (GRCm39)	T153S	probably benign	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	18: 80,132,967 (GRCm39)		probably benign	Het
Gm5799	A	G	14: 43,781,995 (GRCm39)	I56V	possibly damaging	Het
Gm7276	T	C	18: 77,273,183 (GRCm39)	R184G	unknown	Het
Gmip	T	G	8: 70,273,149 (GRCm39)	D845E	probably benign	Het
Hspa9	T	C	18: 35,082,082 (GRCm39)	K175E	probably damaging	Het
Ipo13	A	G	4: 117,752,068 (GRCm39)	F890L	probably benign	Het
Irag1	A	T	7: 110,522,963 (GRCm39)	V160D	probably benign	Het
Klrb1f	C	T	6: 129,033,308 (GRCm39)	R179*	probably null	Het
Nasp	A	G	4: 116,467,785 (GRCm39)	V400A	possibly damaging	Het
Ncoa7	T	A	10: 30,598,847 (GRCm39)	K25N	possibly damaging	Het
Ndrg1	A	C	15: 66,832,382 (GRCm39)	M1R	probably null	Het
Nf1	G	A	11: 79,364,240 (GRCm39)	A1557T	probably damaging	Het
Nrde2	G	A	12: 100,108,509 (GRCm39)	Q361*	probably null	Het
Opn1sw	A	T	6: 29,379,856 (GRCm39)	L126Q	probably damaging	Het
Or1af1	C	T	2: 37,109,774 (GRCm39)	T91I	possibly damaging	Het
Or1j4	T	C	2: 36,740,478 (GRCm39)	L140P	probably benign	Het
Or5au1	A	T	14: 52,273,310 (GRCm39)	L86*	probably null	Het
Or7g17	A	T	9: 18,768,085 (GRCm39)	I46F	possibly damaging	Het
Or8g50	T	C	9: 39,648,422 (GRCm39)	F104L	probably benign	Het
Osmr	A	G	15: 6,853,048 (GRCm39)	Y616H	probably damaging	Het
Pagr1a	T	C	7: 126,615,736 (GRCm39)	T120A	probably benign	Het
Patj	A	G	4: 98,299,376 (GRCm39)	E166G	probably damaging	Het
Plk4	G	A	3: 40,766,613 (GRCm39)	V764I	probably benign	Het
Polr3h	G	A	15: 81,800,602 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,177,043 (GRCm39)	D989E	probably benign	Het
Sdk2	A	T	11: 113,758,909 (GRCm39)		probably null	Het
Setd1b	C	A	5: 123,290,639 (GRCm39)	R869S	unknown	Het
Sgcz	T	C	8: 37,990,565 (GRCm39)	I263V	probably benign	Het
Skint8	G	A	4: 111,785,758 (GRCm39)	G68D	probably benign	Het
Slc22a7	A	T	17: 46,745,553 (GRCm39)	V326E	probably benign	Het
Slc39a1	T	G	3: 90,156,396 (GRCm39)	L38R	probably damaging	Het
Slc4a4	A	G	5: 89,362,506 (GRCm39)		probably null	Het
Sptlc3	A	G	2: 139,431,537 (GRCm39)	E353G	possibly damaging	Het
Ssh2	G	T	11: 77,340,934 (GRCm39)	L695F	probably damaging	Het
Tacr2	C	A	10: 62,097,427 (GRCm39)	Y302*	probably null	Het
Tas2r117	T	C	6: 132,780,192 (GRCm39)	L110P	probably damaging	Het
Tex9	A	T	9: 72,394,060 (GRCm39)		probably null	Het
Tmem17	A	T	11: 22,468,645 (GRCm39)	T195S	probably benign	Het
Trcg1	T	A	9: 57,148,766 (GRCm39)	S113T	probably benign	Het
Trpa1	A	T	1: 14,954,422 (GRCm39)	F826I	probably benign	Het
Usp17lc	A	G	7: 103,067,575 (GRCm39)	Y290C	probably damaging	Het
Vmn2r32	T	A	7: 7,477,212 (GRCm39)	D393V	possibly damaging	Het
Wdfy4	A	G	14: 32,871,541 (GRCm39)	L290P		Het
Xpnpep1	G	C	19: 52,994,722 (GRCm39)	A302G	probably benign	Het
Xrn2	T	C	2: 146,891,266 (GRCm39)	L692P	probably damaging	Het
Zgrf1	A	G	3: 127,356,720 (GRCm39)	S649G	probably benign	Het
Zscan4b	C	T	7: 10,634,791 (GRCm39)	C484Y	probably damaging	Het
Zscan4b	T	C	7: 10,635,820 (GRCm39)	D169G	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
R2268: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
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'- GAGATGAATCAAGATCCTGAGCC -3'
(R):5'- TGACATAGCTCATATCCAACAGGG -3'

Sequencing Primer
(F):5'- TCAAGATCCTGAGCCATGTG -3'
(R):5'- TCCAACAGGGAGAGGGTAG -3'

Posted On

2019-10-07