Mutagenetix > Incidental Mutation

Incidental Mutation 'R0033:Or5p62'

64551

Institutional Source

Beutler Lab

Gene Symbol

Or5p62

Ensembl Gene

ENSMUSG00000096068

Gene Name

olfactory receptor family 5 subfamily P member 62

Synonyms

GA_x6K02T2PBJ9-10501920-10500976, MOR204-19, Olfr486

MMRRC Submission

038327-MU

Accession Numbers

Essential gene?

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

Stock #

R0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

107771005-107771949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107771134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 272 (D272E)

Ref Sequence

ENSEMBL: ENSMUSP00000071918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072035]

AlphaFold

Q8VFD0

Predicted Effect

probably benign
Transcript: ENSMUST00000072035
AA Change: D272E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071918
Gene: ENSMUSG00000096068
AA Change: D272E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	311	6.8e-51	PFAM
Pfam:7tm_1	44	293	6.6e-24	PFAM

Meta Mutation Damage Score

0.1831

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 93.3%

Validation Efficiency

100% (81/81)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,115,794 (GRCm39)	F110L	probably damaging	Het
Agr3	C	T	12: 35,978,329 (GRCm39)	T14M	possibly damaging	Het
Ankib1	A	C	5: 3,819,588 (GRCm39)	D110E	possibly damaging	Het
Auts2	G	C	5: 131,468,931 (GRCm39)	D571E	probably damaging	Het
Cacna1d	T	A	14: 29,827,446 (GRCm39)	Q993L	probably damaging	Het
Cdkn3	C	A	14: 47,006,329 (GRCm39)	Y141*	probably null	Het
Ceacam12	T	G	7: 17,803,385 (GRCm39)		probably benign	Het
Celf1	T	C	2: 90,831,798 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,729,967 (GRCm39)	S1780P	probably damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Ctss	G	A	3: 95,452,888 (GRCm39)		probably benign	Het
Emilin2	G	T	17: 71,582,009 (GRCm39)	T239K	probably benign	Het
Erp44	T	C	4: 48,241,289 (GRCm39)		probably benign	Het
Fbxl4	T	C	4: 22,377,017 (GRCm39)	V151A	probably damaging	Het
Fer1l4	G	A	2: 155,866,026 (GRCm39)		probably benign	Het
Gm43302	T	C	5: 105,424,710 (GRCm39)	D310G	probably benign	Het
Gstk1	A	G	6: 42,223,737 (GRCm39)		probably benign	Het
Hapln1	A	T	13: 89,749,932 (GRCm39)	Q159L	probably benign	Het
Hibch	A	G	1: 52,944,610 (GRCm39)	K296R	probably null	Het
Katnip	T	G	7: 125,360,999 (GRCm39)	V103G	possibly damaging	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kdm7a	A	T	6: 39,142,131 (GRCm39)	Y382*	probably null	Het
Kirrel3	A	G	9: 34,912,259 (GRCm39)	I208V	probably benign	Het
Klc4	A	T	17: 46,946,359 (GRCm39)	C489S	probably damaging	Het
Lrrc8a	G	T	2: 30,145,357 (GRCm39)	C57F	probably damaging	Het
Ltbp1	A	G	17: 75,583,504 (GRCm39)	N435D	possibly damaging	Het
Macc1	T	A	12: 119,410,076 (GRCm39)	N281K	probably benign	Het
Myo16	A	T	8: 10,420,955 (GRCm39)	Y265F	probably damaging	Het
Myoc	G	A	1: 162,476,010 (GRCm39)	G238E	probably damaging	Het
Nlrp12	A	C	7: 3,289,037 (GRCm39)	S492A	probably damaging	Het
Obscn	A	G	11: 58,885,572 (GRCm39)		probably benign	Het
Oplah	T	A	15: 76,181,334 (GRCm39)	Q1202L	probably benign	Het
Or9s23	A	G	1: 92,500,982 (GRCm39)	T30A	probably benign	Het
Ppargc1b	G	A	18: 61,440,765 (GRCm39)	R718W	probably damaging	Het
Pramel19	A	T	4: 101,798,881 (GRCm39)	Y284F	probably benign	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rnf225	T	C	7: 12,662,085 (GRCm39)	L88P	probably damaging	Het
Slc12a1	A	G	2: 125,055,929 (GRCm39)	D820G	probably benign	Het
Slc12a4	G	T	8: 106,674,111 (GRCm39)		probably benign	Het
Slx4	C	T	16: 3,805,864 (GRCm39)	A72T	probably benign	Het
Snrnp200	T	C	2: 127,079,983 (GRCm39)	I1920T	probably damaging	Het
Stap2	C	T	17: 56,306,976 (GRCm39)	V234M	probably damaging	Het
Sv2b	A	G	7: 74,767,489 (GRCm39)	F636L	probably benign	Het
Tdp1	C	T	12: 99,901,311 (GRCm39)	T531I	probably benign	Het
Thra	G	A	11: 98,655,178 (GRCm39)	V353I	probably benign	Het
Tm7sf2	A	G	19: 6,116,452 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,442,918 (GRCm39)		probably null	Het
Tnfrsf12a	A	G	17: 23,895,119 (GRCm39)		probably null	Het
Trav6n-5	T	A	14: 53,342,368 (GRCm39)	M14K	probably benign	Het
Ttn	T	A	2: 76,572,624 (GRCm39)	I26090F	probably damaging	Het
Tut1	G	T	19: 8,940,123 (GRCm39)	R369L	probably benign	Het
Uba5	T	A	9: 103,931,347 (GRCm39)	T241S	probably benign	Het
Unc13d	T	C	11: 115,959,991 (GRCm39)	T597A	probably benign	Het
Vmn1r58	A	T	7: 5,413,387 (GRCm39)	I281K	probably damaging	Het
Vmn1r59	A	G	7: 5,457,433 (GRCm39)	V109A	probably benign	Het
Xdh	T	A	17: 74,214,627 (GRCm39)	M773L	probably benign	Het
Zfp64	A	T	2: 168,767,635 (GRCm39)	I659N	possibly damaging	Het

Other mutations in Or5p62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0144:Or5p62	UTSW	7	107,771,178 (GRCm39)	missense	probably benign	0.00
R0165:Or5p62	UTSW	7	107,771,882 (GRCm39)	missense	probably benign	0.03
R0739:Or5p62	UTSW	7	107,771,217 (GRCm39)	missense	probably benign	0.00
R1027:Or5p62	UTSW	7	107,771,348 (GRCm39)	missense	probably damaging	0.98
R1781:Or5p62	UTSW	7	107,771,090 (GRCm39)	missense	probably benign	0.06
R3729:Or5p62	UTSW	7	107,771,516 (GRCm39)	missense	probably benign	0.13
R4505:Or5p62	UTSW	7	107,771,175 (GRCm39)	missense	probably benign	0.00
R5223:Or5p62	UTSW	7	107,771,915 (GRCm39)	missense	probably benign	0.20
R7089:Or5p62	UTSW	7	107,771,701 (GRCm39)	missense	probably benign	0.01
R7499:Or5p62	UTSW	7	107,771,007 (GRCm39)	makesense	probably null
R7894:Or5p62	UTSW	7	107,771,391 (GRCm39)	missense	probably benign
R7995:Or5p62	UTSW	7	107,771,207 (GRCm39)	missense	probably damaging	1.00
R8807:Or5p62	UTSW	7	107,771,852 (GRCm39)	missense	possibly damaging	0.93
R9050:Or5p62	UTSW	7	107,771,087 (GRCm39)	missense	probably damaging	1.00
R9244:Or5p62	UTSW	7	107,771,852 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGCCAAAGGAGAAATACCTTGGCTT -3'
(R):5'- AGCAATCTGCAACCCACTGCTTTAT -3'

Sequencing Primer
(F):5'- GGAGAAATACCTTGGCTTATAACC -3'
(R):5'- ATGTCCTCACAAGTGTGTATCCAG -3'

Posted On

2013-08-06