Mutagenetix > Incidental Mutation

Incidental Mutation 'R0217:Or5p1'

33617

Institutional Source

Beutler Lab

Gene Symbol

Or5p1

Ensembl Gene

ENSMUSG00000094612

Gene Name

olfactory receptor family 5 subfamily P member 1

Synonyms

MOR204-11, GA_x6K02T2PBJ9-10646917-10647849, Olfr491

MMRRC Submission

038466-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R0217 (G1)

Quality Score

220

Status

Validated (trace)

Chromosome

Chromosomal Location

107916103-107917035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107916505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 135 (H135N)

Ref Sequence

ENSEMBL: ENSMUSP00000150694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053179] [ENSMUST00000209545] [ENSMUST00000214605]

AlphaFold

Q8VG06

Predicted Effect

probably benign
Transcript: ENSMUST00000053179
AA Change: H135N

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

SMART Domains

Protein: ENSMUSP00000061188
Gene: ENSMUSG00000094612
AA Change: H135N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.4e-50	PFAM
Pfam:7tm_1	41	290	5.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209545
AA Change: H135N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000214605
AA Change: H135N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	T	C	7: 143,447,956 (GRCm39)		probably benign	Het
Actr3	A	G	1: 125,335,150 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,886,933 (GRCm39)		probably benign	Het
Afap1l1	A	G	18: 61,879,940 (GRCm39)	V310A	probably damaging	Het
Alms1	T	A	6: 85,599,912 (GRCm39)	S2048R	probably damaging	Het
Aspm	T	A	1: 139,385,618 (GRCm39)	S421T	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccdc150	T	G	1: 54,339,589 (GRCm39)	S478A	possibly damaging	Het
Ccnyl1	T	A	1: 64,752,257 (GRCm39)		probably benign	Het
Cdc23	T	C	18: 34,784,718 (GRCm39)	T15A	unknown	Het
Cdk19	C	T	10: 40,352,254 (GRCm39)		probably benign	Het
Comp	A	C	8: 70,831,558 (GRCm39)	D420A	probably damaging	Het
Ctnnal1	T	C	4: 56,813,230 (GRCm39)	H667R	probably benign	Het
Cyp20a1	C	A	1: 60,382,625 (GRCm39)		probably benign	Het
Eci3	A	C	13: 35,132,072 (GRCm39)	S259A	probably benign	Het
Fcnb	T	C	2: 27,969,689 (GRCm39)	D126G	probably benign	Het
Foxk1	T	C	5: 142,387,649 (GRCm39)	M124T	possibly damaging	Het
Gm12790	T	C	4: 101,825,231 (GRCm39)	Y61C	probably damaging	Het
Hmgcr	A	C	13: 96,788,488 (GRCm39)	I777S	probably damaging	Het
Hsdl2	A	G	4: 59,597,311 (GRCm39)	E100G	probably damaging	Het
Itgb2	G	T	10: 77,384,370 (GRCm39)		probably benign	Het
Jak2	T	A	19: 29,274,050 (GRCm39)		probably null	Het
Lrba	T	C	3: 86,550,029 (GRCm39)	S2333P	probably damaging	Het
Man1a2	A	G	3: 100,524,353 (GRCm39)	L365P	possibly damaging	Het
Map2k5	A	T	9: 63,164,257 (GRCm39)		probably null	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Megf8	T	A	7: 25,063,504 (GRCm39)	L2620Q	probably damaging	Het
Nf1	A	T	11: 79,319,400 (GRCm39)		probably benign	Het
Or11h7	A	G	14: 50,891,552 (GRCm39)	N286S	probably damaging	Het
Or1e30	T	A	11: 73,678,214 (GRCm39)	V150E	possibly damaging	Het
Pank3	T	A	11: 35,668,555 (GRCm39)	D181E	probably benign	Het
Pip5k1a	A	G	3: 94,981,302 (GRCm39)		probably null	Het
Plag1	A	C	4: 3,904,379 (GRCm39)	S271A	probably benign	Het
Plxna2	T	A	1: 194,326,906 (GRCm39)	I280N	probably damaging	Het
Polr1a	T	C	6: 71,940,687 (GRCm39)	V1007A	probably benign	Het
Ppm1h	T	A	10: 122,756,640 (GRCm39)	D428E	probably damaging	Het
Prelid2	A	T	18: 42,068,317 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,393,830 (GRCm39)	Y881C	probably damaging	Het
Rptor	T	C	11: 119,785,738 (GRCm39)		probably benign	Het
Sbno1	T	C	5: 124,542,387 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,039,570 (GRCm39)	D843G	probably damaging	Het
Serpina3b	C	T	12: 104,096,986 (GRCm39)	A89V	probably damaging	Het
Serpinb9d	C	A	13: 33,382,005 (GRCm39)	T158N	possibly damaging	Het
Slc39a10	C	T	1: 46,874,700 (GRCm39)	V201I	probably benign	Het
Slc6a13	T	A	6: 121,301,279 (GRCm39)	N189K	probably damaging	Het
Smco1	G	T	16: 32,092,599 (GRCm39)	R90L	possibly damaging	Het
Stim1	T	A	7: 102,085,007 (GRCm39)	M653K	probably benign	Het
Stxbp1	T	C	2: 32,691,882 (GRCm39)	S437G	possibly damaging	Het
Stxbp3-ps	T	G	19: 9,536,496 (GRCm39)		noncoding transcript	Het
Tgtp1	A	C	11: 48,878,146 (GRCm39)	S186R	probably benign	Het
Trpc7	C	T	13: 56,937,581 (GRCm39)	W570*	probably null	Het
Trpv4	C	A	5: 114,772,722 (GRCm39)	R289L	possibly damaging	Het
Vmn2r82	A	G	10: 79,214,634 (GRCm39)	M206V	possibly damaging	Het
Wdr47	T	A	3: 108,544,336 (GRCm39)	V653E	probably damaging	Het
Zfp113	T	C	5: 138,148,953 (GRCm39)	R64G	probably benign	Het
Zfp661	C	T	2: 127,419,211 (GRCm39)	E310K	probably damaging	Het
Zfp735	T	A	11: 73,602,112 (GRCm39)	I352N	possibly damaging	Het
Zswim4	A	G	8: 84,939,293 (GRCm39)	L863P	probably damaging	Het
Zzef1	T	A	11: 72,779,894 (GRCm39)	I1889N	probably damaging	Het

Other mutations in Or5p1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Or5p1	APN	7	107,916,725 (GRCm39)	missense	probably benign	0.02
IGL01731:Or5p1	APN	7	107,916,682 (GRCm39)	missense	probably benign	0.01
IGL02227:Or5p1	APN	7	107,916,408 (GRCm39)	nonsense	probably null
IGL02624:Or5p1	APN	7	107,916,130 (GRCm39)	missense	probably benign	0.38
IGL03164:Or5p1	APN	7	107,916,901 (GRCm39)	missense	probably damaging	1.00
R0143:Or5p1	UTSW	7	107,916,202 (GRCm39)	missense	probably benign	0.00
R0295:Or5p1	UTSW	7	107,916,892 (GRCm39)	missense	probably benign	0.42
R2100:Or5p1	UTSW	7	107,916,761 (GRCm39)	missense	probably benign	0.04
R2379:Or5p1	UTSW	7	107,916,499 (GRCm39)	missense	probably benign	0.25
R4178:Or5p1	UTSW	7	107,916,565 (GRCm39)	missense	probably damaging	1.00
R4365:Or5p1	UTSW	7	107,916,313 (GRCm39)	missense	probably benign	0.02
R4734:Or5p1	UTSW	7	107,916,959 (GRCm39)	missense	probably damaging	1.00
R4828:Or5p1	UTSW	7	107,916,677 (GRCm39)	missense	probably benign	0.00
R6424:Or5p1	UTSW	7	107,916,412 (GRCm39)	missense	probably benign	0.01
R6784:Or5p1	UTSW	7	107,916,989 (GRCm39)	missense	probably damaging	0.98
R7109:Or5p1	UTSW	7	107,916,959 (GRCm39)	missense	probably damaging	1.00
R7348:Or5p1	UTSW	7	107,916,920 (GRCm39)	missense	possibly damaging	0.58
R7590:Or5p1	UTSW	7	107,916,386 (GRCm39)	missense	probably benign	0.00
R8124:Or5p1	UTSW	7	107,916,984 (GRCm39)	missense	possibly damaging	0.48
R8782:Or5p1	UTSW	7	107,916,296 (GRCm39)	missense	probably damaging	0.99
X0060:Or5p1	UTSW	7	107,916,427 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TCTTAGCCATCTGGCTTTTGTGGAC -3'
(R):5'- CATGGGGATCACCACTGTGTAGAAC -3'

Sequencing Primer
(F):5'- GTGGACATTGGCTATTCAACATCAG -3'
(R):5'- CTGGACTTGGGCATCACATAAATG -3'

Posted On

2013-05-09