Mutagenetix > Incidental Mutation

Incidental Mutation 'R4843:Or5p69'

371990

Institutional Source

Beutler Lab

Gene Symbol

Or5p69

Ensembl Gene

ENSMUSG00000109631

Gene Name

olfactory receptor family 5 subfamily P member 69

Synonyms

GA_x6K02T2PBJ9-10697517-10698461, MOR204-10, Olfr494

MMRRC Submission

042456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R4843 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107966699-107967643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107967350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 218 (A218T)

Ref Sequence

ENSEMBL: ENSMUSP00000147830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073059] [ENSMUST00000209743] [ENSMUST00000210291]

AlphaFold

Q8VG07

Predicted Effect

probably benign
Transcript: ENSMUST00000073059
AA Change: A218T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000072810
Gene: ENSMUSG00000109542
AA Change: A218T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	2e-56	PFAM
Pfam:7tm_1	44	293	2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209743
AA Change: A218T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000210291
AA Change: A218T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.4665

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

95% (58/61)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	T	A	12: 30,946,144 (GRCm39)	K124*	probably null	Het
Actl11	G	T	9: 107,806,691 (GRCm39)	C338F	possibly damaging	Het
Adam5	G	A	8: 25,303,552 (GRCm39)	S125F	probably damaging	Het
Ap2s1	C	A	7: 16,477,271 (GRCm39)	A44D	possibly damaging	Het
AW554918	T	C	18: 25,473,057 (GRCm39)	V84A	probably benign	Het
Bsn	G	A	9: 107,984,388 (GRCm39)	T3222M	unknown	Het
Car15	A	G	16: 17,654,472 (GRCm39)	Y155H	possibly damaging	Het
Cdca2	G	T	14: 67,914,425 (GRCm39)	P945T	probably damaging	Het
Cdh16	A	G	8: 105,348,172 (GRCm39)	F182L	probably damaging	Het
Cers6	G	A	2: 68,899,003 (GRCm39)	A214T	probably benign	Het
Ces1g	A	T	8: 94,057,893 (GRCm39)	M136K	probably damaging	Het
Cnppd1	A	G	1: 75,113,086 (GRCm39)	V394A	probably benign	Het
Cyp3a59	A	T	5: 146,033,071 (GRCm39)	I148F	possibly damaging	Het
Dnah1	G	A	14: 30,986,920 (GRCm39)	A3624V	probably damaging	Het
Exoc3l4	T	C	12: 111,394,487 (GRCm39)		probably benign	Het
Fap	G	T	2: 62,374,718 (GRCm39)	P227Q	probably damaging	Het
Fbxw10	G	A	11: 62,738,151 (GRCm39)	R15H	possibly damaging	Het
Gm11011	T	C	2: 169,429,240 (GRCm39)		probably benign	Het
Gm11146	A	C	16: 77,392,144 (GRCm39)		probably benign	Het
Grip1	G	A	10: 119,765,920 (GRCm39)	R84Q	probably damaging	Het
Hipk2	A	G	6: 38,796,192 (GRCm39)	C19R	possibly damaging	Het
Hmgcll1	A	G	9: 75,979,916 (GRCm39)	D102G	possibly damaging	Het
Ighv16-1	A	T	12: 114,032,504 (GRCm39)	Y99*	probably null	Het
Kank1	T	G	19: 25,408,371 (GRCm39)	S1283R	probably damaging	Het
Kcnip1	T	A	11: 33,594,504 (GRCm39)	H95L	probably benign	Het
L3mbtl3	A	T	10: 26,207,777 (GRCm39)	L314Q	unknown	Het
Marveld3	C	A	8: 110,688,702 (GRCm39)	R13L	possibly damaging	Het
Mtrf1l	G	T	10: 5,773,696 (GRCm39)	P23Q	possibly damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or6c1b	G	T	10: 129,273,316 (GRCm39)	V212L	probably benign	Het
Paqr7	A	G	4: 134,234,278 (GRCm39)	Y45C	probably damaging	Het
Plod3	G	A	5: 137,019,854 (GRCm39)	W428*	probably null	Het
Pnisr	T	A	4: 21,857,400 (GRCm39)		probably benign	Het
Ppip5k1	C	A	2: 121,157,368 (GRCm39)	R1046L	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Prmt5	A	T	14: 54,753,582 (GRCm39)	I99N	probably benign	Het
Ripk2	T	C	4: 16,155,073 (GRCm39)	T149A	probably damaging	Het
Rpf2	C	A	10: 40,122,998 (GRCm39)		probably benign	Het
Rtf1	T	A	2: 119,536,017 (GRCm39)	D190E	possibly damaging	Het
Shank2	T	A	7: 143,585,146 (GRCm39)	M49K	probably benign	Het
Snd1	T	G	6: 28,668,642 (GRCm39)	V443G	probably damaging	Het
Spag9	T	C	11: 93,988,644 (GRCm39)	F555L	probably damaging	Het
Srfbp1	A	G	18: 52,621,749 (GRCm39)	K270R	probably benign	Het
Tenm2	T	A	11: 35,914,847 (GRCm39)	N2230I	probably damaging	Het
Tmem106a	T	C	11: 101,477,021 (GRCm39)		probably benign	Het
Tpsg1	A	T	17: 25,589,591 (GRCm39)		probably benign	Het
Trank1	A	G	9: 111,195,146 (GRCm39)	S1057G	probably benign	Het
Unc13d	G	A	11: 115,965,085 (GRCm39)	T220M	probably damaging	Het
Vmn1r68	T	C	7: 10,261,904 (GRCm39)	T65A	probably benign	Het
Vps50	T	C	6: 3,536,974 (GRCm39)		probably null	Het
Washc5	A	G	15: 59,222,220 (GRCm39)	I85T	possibly damaging	Het
Zfp677	C	T	17: 21,612,788 (GRCm39)	T2I	probably benign	Het
Zxdc	A	G	6: 90,359,254 (GRCm39)	T629A	probably damaging	Het

Other mutations in Or5p69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Or5p69	APN	7	107,967,525 (GRCm39)	missense	probably damaging	1.00
IGL01934:Or5p69	APN	7	107,967,368 (GRCm39)	missense	probably damaging	0.99
IGL02041:Or5p69	APN	7	107,966,742 (GRCm39)	missense	probably damaging	1.00
IGL02253:Or5p69	APN	7	107,967,261 (GRCm39)	missense	possibly damaging	0.80
IGL02902:Or5p69	APN	7	107,967,336 (GRCm39)	missense	probably damaging	1.00
R0125:Or5p69	UTSW	7	107,967,576 (GRCm39)	missense	probably damaging	0.98
R0523:Or5p69	UTSW	7	107,967,438 (GRCm39)	missense	probably damaging	1.00
R0650:Or5p69	UTSW	7	107,966,996 (GRCm39)	missense	probably damaging	1.00
R1268:Or5p69	UTSW	7	107,967,002 (GRCm39)	missense	probably benign	0.06
R2036:Or5p69	UTSW	7	107,966,947 (GRCm39)	missense	probably benign	0.00
R2162:Or5p69	UTSW	7	107,966,769 (GRCm39)	missense	probably benign	0.08
R2278:Or5p69	UTSW	7	107,967,288 (GRCm39)	missense	probably benign	0.01
R2368:Or5p69	UTSW	7	107,967,576 (GRCm39)	missense	probably damaging	0.98
R3410:Or5p69	UTSW	7	107,967,551 (GRCm39)	missense	possibly damaging	0.52
R3411:Or5p69	UTSW	7	107,967,551 (GRCm39)	missense	possibly damaging	0.52
R3834:Or5p69	UTSW	7	107,967,279 (GRCm39)	missense	probably damaging	0.98
R4322:Or5p69	UTSW	7	107,967,555 (GRCm39)	missense	probably damaging	1.00
R4625:Or5p69	UTSW	7	107,966,895 (GRCm39)	missense	probably damaging	0.98
R4724:Or5p69	UTSW	7	107,967,205 (GRCm39)	missense	probably benign
R5525:Or5p69	UTSW	7	107,967,206 (GRCm39)	missense	probably benign
R5954:Or5p69	UTSW	7	107,966,808 (GRCm39)	missense	probably damaging	0.98
R7027:Or5p69	UTSW	7	107,967,557 (GRCm39)	missense	probably damaging	0.98
R8041:Or5p69	UTSW	7	107,966,741 (GRCm39)	missense	probably damaging	1.00
R8237:Or5p69	UTSW	7	107,967,234 (GRCm39)	missense	probably damaging	1.00
R9566:Or5p69	UTSW	7	107,966,783 (GRCm39)	missense	probably benign	0.01
Z1177:Or5p69	UTSW	7	107,967,468 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATCCAGTTAGTCGTGGGATC -3'
(R):5'- ACCACCTTATTCTGGTCTGTGG -3'

Sequencing Primer
(F):5'- CCAGTTAGTCGTGGGATCTTATATAG -3'
(R):5'- CCACCTTATTCTGGTCTGTGGAGTAG -3'

Posted On

2016-03-01