Mutagenetix > Incidental Mutation

Incidental Mutation 'R6657:Or5aq6'

526645

Institutional Source

Beutler Lab

Gene Symbol

Or5aq6

Ensembl Gene

ENSMUSG00000075161

Gene Name

olfactory receptor family 5 subfamily AQ member 6

Synonyms

Olfr1109, GA_x6K02T2Q125-48586461-48585523, MOR172-5

MMRRC Submission

044778-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6657 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86921539-86926352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86923403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 113 (I113F)

Ref Sequence

ENSEMBL: ENSMUSP00000149282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099863] [ENSMUST00000214636] [ENSMUST00000217066]

AlphaFold

A2AT96

Predicted Effect

probably benign
Transcript: ENSMUST00000099863
AA Change: I113F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097449
Gene: ENSMUSG00000075161
AA Change: I113F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	8.3e-52	PFAM
Pfam:7tm_1	41	290	6.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214636
AA Change: I113F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000217066
AA Change: I113F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (48/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	G	8: 106,435,450 (GRCm39)	L36R	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Akr1b7	A	C	6: 34,393,135 (GRCm39)	D106A	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Chst5	C	T	8: 112,616,906 (GRCm39)	R238Q	probably benign	Het
Cpxm2	T	C	7: 131,650,806 (GRCm39)	Y618C	probably damaging	Het
Csnk1d	T	C	11: 120,855,820 (GRCm39)	E405G	possibly damaging	Het
Ctsh	A	T	9: 89,942,555 (GRCm39)	M37L	probably benign	Het
Eml5	T	G	12: 98,757,664 (GRCm39)	I1843L	probably damaging	Het
Ep400	C	A	5: 110,841,411 (GRCm39)		probably benign	Het
Fbln2	A	G	6: 91,236,732 (GRCm39)	N749S	possibly damaging	Het
Gpc5	A	G	14: 115,607,610 (GRCm39)	H404R	probably benign	Het
Hyal6	A	G	6: 24,734,757 (GRCm39)	D230G	possibly damaging	Het
Itga5	T	C	15: 103,259,222 (GRCm39)	D735G	probably damaging	Het
Kansl2	T	A	15: 98,422,551 (GRCm39)	Q339L	possibly damaging	Het
Lrp4	T	A	2: 91,322,398 (GRCm39)	M1078K	probably benign	Het
Mmp24	A	T	2: 155,640,099 (GRCm39)	Y143F	probably damaging	Het
Mroh7	A	T	4: 106,559,697 (GRCm39)	C743*	probably null	Het
Myh14	T	C	7: 44,287,270 (GRCm39)	N618D	probably damaging	Het
Myo19	A	T	11: 84,788,022 (GRCm39)	M324L	probably benign	Het
Nectin2	T	C	7: 19,472,065 (GRCm39)	N108S	probably benign	Het
Nrg2	A	G	18: 36,329,642 (GRCm39)	I191T	probably damaging	Het
Odf4	T	C	11: 68,817,638 (GRCm39)	N18D	probably benign	Het
Pcsk2	T	G	2: 143,532,286 (GRCm39)	L145V	probably damaging	Het
Pdzrn3	C	A	6: 101,127,983 (GRCm39)	Q894H	probably benign	Het
Pfpl	G	A	19: 12,407,290 (GRCm39)	V514I	probably benign	Het
Plbd1	A	T	6: 136,594,250 (GRCm39)	M333K	probably damaging	Het
Plec	A	T	15: 76,062,356 (GRCm39)	M2554K	possibly damaging	Het
Psmb5	A	G	14: 54,851,840 (GRCm39)	Y115H	possibly damaging	Het
Rictor	A	G	15: 6,788,977 (GRCm39)	N198D	possibly damaging	Het
Rsrc2	A	G	5: 123,877,630 (GRCm39)		probably benign	Het
Sec16a	C	T	2: 26,315,876 (GRCm39)	W262*	probably null	Het
Sfmbt1	A	G	14: 30,488,053 (GRCm39)	D8G	possibly damaging	Het
Sptbn5	T	G	2: 119,906,881 (GRCm39)		probably benign	Het
Sqor	A	G	2: 122,649,514 (GRCm39)	D139G	possibly damaging	Het
Sugt1	A	T	14: 79,844,701 (GRCm39)	T139S	probably benign	Het
Tcp11	G	A	17: 28,290,646 (GRCm39)	P159S	probably damaging	Het
Tmem262	A	G	19: 6,130,542 (GRCm39)	T89A	possibly damaging	Het
Tnfaip6	C	A	2: 51,933,795 (GRCm39)	T50N	probably damaging	Het
Ttll9	T	C	2: 152,826,182 (GRCm39)	Y131H	probably damaging	Het
Vmn1r173	T	A	7: 23,402,320 (GRCm39)	M185K	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r52	G	A	7: 9,893,090 (GRCm39)	T683I	probably damaging	Het
Vps53	A	T	11: 76,025,253 (GRCm39)	I197N	probably damaging	Het
Washc4	T	A	10: 83,394,482 (GRCm39)	F269L	possibly damaging	Het
Wdfy4	C	T	14: 32,769,208 (GRCm39)	V2086M	possibly damaging	Het
Zfp592	A	T	7: 80,675,234 (GRCm39)	T733S	possibly damaging	Het
Zfp599	A	G	9: 22,161,538 (GRCm39)	F209S	probably damaging	Het

Other mutations in Or5aq6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Or5aq6	APN	2	86,923,643 (GRCm39)	missense	probably benign
IGL01926:Or5aq6	APN	2	86,923,318 (GRCm39)	missense	probably damaging	1.00
IGL03195:Or5aq6	APN	2	86,922,913 (GRCm39)	missense	probably damaging	1.00
R0550:Or5aq6	UTSW	2	86,923,473 (GRCm39)	missense	probably benign	0.00
R1334:Or5aq6	UTSW	2	86,923,571 (GRCm39)	missense	probably damaging	0.98
R1677:Or5aq6	UTSW	2	86,923,081 (GRCm39)	missense	probably benign
R1753:Or5aq6	UTSW	2	86,923,571 (GRCm39)	missense	probably damaging	0.98
R3933:Or5aq6	UTSW	2	86,923,106 (GRCm39)	missense	probably benign	0.01
R4151:Or5aq6	UTSW	2	86,923,514 (GRCm39)	missense	probably benign	0.07
R4296:Or5aq6	UTSW	2	86,922,974 (GRCm39)	missense	probably benign	0.00
R6654:Or5aq6	UTSW	2	86,923,394 (GRCm39)	missense	probably benign	0.23
R7697:Or5aq6	UTSW	2	86,923,162 (GRCm39)	missense	probably benign	0.30
R8178:Or5aq6	UTSW	2	86,923,220 (GRCm39)	missense	possibly damaging	0.94
R8413:Or5aq6	UTSW	2	86,923,502 (GRCm39)	missense	probably benign	0.25
R8531:Or5aq6	UTSW	2	86,923,670 (GRCm39)	missense	probably benign	0.00
R8681:Or5aq6	UTSW	2	86,923,390 (GRCm39)	missense	possibly damaging	0.79
R8682:Or5aq6	UTSW	2	86,923,390 (GRCm39)	missense	possibly damaging	0.79
R8771:Or5aq6	UTSW	2	86,923,294 (GRCm39)	missense	probably benign	0.01
R9185:Or5aq6	UTSW	2	86,923,200 (GRCm39)	missense	possibly damaging	0.88
R9387:Or5aq6	UTSW	2	86,923,390 (GRCm39)	missense	possibly damaging	0.79
R9388:Or5aq6	UTSW	2	86,923,390 (GRCm39)	missense	possibly damaging	0.79
R9389:Or5aq6	UTSW	2	86,923,390 (GRCm39)	missense	possibly damaging	0.79
R9390:Or5aq6	UTSW	2	86,923,390 (GRCm39)	missense	possibly damaging	0.79
R9483:Or5aq6	UTSW	2	86,923,390 (GRCm39)	missense	possibly damaging	0.79
R9680:Or5aq6	UTSW	2	86,923,390 (GRCm39)	missense	possibly damaging	0.79
Z1176:Or5aq6	UTSW	2	86,923,568 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TTCACAACGTTGGGACCACAG -3'
(R):5'- GGGTAACTGGGGAATGATCTTC -3'

Sequencing Primer
(F):5'- CGTTGGGACCACAGAAGTC -3'
(R):5'- GATCTGGTTGAATGCCCACC -3'

Posted On

2018-07-23