Mutagenetix > Incidental Mutation

Incidental Mutation 'R5173:Or4p18'

398867

Institutional Source

Beutler Lab

Gene Symbol

Or4p18

Ensembl Gene

ENSMUSG00000075127

Gene Name

olfactory receptor family 4 subfamily P member 18

Synonyms

MOR225-2, GA_x6K02T2Q125-49890854-49889931, Olfr1179

MMRRC Submission

042753-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88232353-88233276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88233266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 4 (T4I)

Ref Sequence

ENSEMBL: ENSMUSP00000151174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099825] [ENSMUST00000213157]

AlphaFold

A2AUS6

Predicted Effect

probably benign
Transcript: ENSMUST00000099825
AA Change: T4I

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

SMART Domains

Protein: ENSMUSP00000097413
Gene: ENSMUSG00000075127
AA Change: T4I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.1e-47	PFAM
Pfam:7tm_1	39	285	3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213157
AA Change: T4I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219086

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (50/50)

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
Abca13	AC	A	11: 9,632,032 (GRCm39)		probably null	Het
Abca6	A	T	11: 110,082,546 (GRCm39)	F1142L	probably benign	Het
Ap1g1	T	A	8: 110,577,764 (GRCm39)		probably null	Het
Apob	T	C	12: 8,058,238 (GRCm39)	V2207A	probably benign	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,618,258 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,260,069 (GRCm39)		probably benign	Het
Coch	C	A	12: 51,643,290 (GRCm39)	Y103*	probably null	Het
Cul3	A	T	1: 80,259,133 (GRCm39)	D382E	possibly damaging	Het
Cul5	T	C	9: 53,554,034 (GRCm39)	T291A	probably benign	Het
Dab1	T	C	4: 104,545,645 (GRCm39)		probably null	Het
Dmtf1	A	G	5: 9,190,356 (GRCm39)		probably benign	Het
Dpp4	T	C	2: 62,217,474 (GRCm39)	Y41C	probably damaging	Het
Eif2ak4	A	G	2: 118,238,841 (GRCm39)	I45M	probably damaging	Het
Epn3	T	C	11: 94,386,923 (GRCm39)	K149R	probably damaging	Het
Flnc	A	G	6: 29,455,537 (GRCm39)	E2029G	probably damaging	Het
Gm5799	A	G	14: 43,782,116 (GRCm39)	N96S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Grik5	T	C	7: 24,762,319 (GRCm39)	H224R	possibly damaging	Het
Lpar6	A	T	14: 73,476,537 (GRCm39)	E166V	probably benign	Het
Mical1	T	C	10: 41,360,985 (GRCm39)	L683P	probably damaging	Het
Mis18bp1	T	C	12: 65,196,149 (GRCm39)	I538M	possibly damaging	Het
Mobp	A	G	9: 119,997,311 (GRCm39)	R77G	possibly damaging	Het
Muc21	G	T	17: 35,931,633 (GRCm39)		probably benign	Het
Mylk	A	G	16: 34,797,383 (GRCm39)	H1614R	probably benign	Het
Or2y16	T	C	11: 49,334,713 (GRCm39)	F12L	probably benign	Het
Or7c19	T	C	8: 85,957,205 (GRCm39)	L27P	probably damaging	Het
Osbpl1a	C	T	18: 12,895,697 (GRCm39)	V390I	probably benign	Het
Pcdha7	C	A	18: 37,107,705 (GRCm39)	D243E	probably benign	Het
Pi4ka	A	T	16: 17,168,770 (GRCm39)	N653K	possibly damaging	Het
Plin5	T	G	17: 56,422,548 (GRCm39)		probably null	Het
Plod1	A	G	4: 148,000,758 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,149,641 (GRCm39)	K372E	probably damaging	Het
Psmd11	C	T	11: 80,351,566 (GRCm39)	T263I	probably benign	Het
Ptprt	A	T	2: 161,769,676 (GRCm39)	N396K	probably benign	Het
Rab39	T	C	9: 53,597,800 (GRCm39)	E155G	probably damaging	Het
Rimbp2	T	C	5: 128,874,712 (GRCm39)	D293G	probably benign	Het
Rnf220	T	C	4: 117,146,471 (GRCm39)		probably benign	Het
Rnmt	C	T	18: 68,454,430 (GRCm39)		probably benign	Het
Slc10a1	T	A	12: 81,002,802 (GRCm39)	I279F	probably damaging	Het
Sp140l1	G	A	1: 85,078,288 (GRCm39)	R54*	probably null	Het
Taar6	A	G	10: 23,861,250 (GRCm39)	Y99H	probably damaging	Het
Tas2r144	T	A	6: 42,193,048 (GRCm39)	F263I	probably benign	Het
Tex15	T	A	8: 34,061,768 (GRCm39)	N399K	possibly damaging	Het
Tlr9	T	A	9: 106,103,151 (GRCm39)	V814D	possibly damaging	Het
Tmem53	T	A	4: 117,122,908 (GRCm39)		probably benign	Het
Ubap2l	T	C	3: 89,928,337 (GRCm39)	I511V	possibly damaging	Het
Vmn2r60	T	C	7: 41,844,935 (GRCm39)	M766T	probably damaging	Het
Zfp462	T	C	4: 55,011,115 (GRCm39)	V1027A	probably damaging	Het

Other mutations in Or4p18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:Or4p18	APN	2	88,232,421 (GRCm39)	missense	possibly damaging	0.95
IGL02445:Or4p18	APN	2	88,232,456 (GRCm39)	missense	possibly damaging	0.60
R0127:Or4p18	UTSW	2	88,232,699 (GRCm39)	missense	probably benign	0.05
R0604:Or4p18	UTSW	2	88,232,727 (GRCm39)	missense	probably benign	0.03
R1526:Or4p18	UTSW	2	88,232,777 (GRCm39)	missense	probably damaging	1.00
R1816:Or4p18	UTSW	2	88,232,943 (GRCm39)	missense	possibly damaging	0.65
R2041:Or4p18	UTSW	2	88,232,568 (GRCm39)	missense	probably damaging	1.00
R3694:Or4p18	UTSW	2	88,232,540 (GRCm39)	missense	possibly damaging	0.80
R4229:Or4p18	UTSW	2	88,233,227 (GRCm39)	missense	possibly damaging	0.67
R4735:Or4p18	UTSW	2	88,233,267 (GRCm39)	missense	probably benign	0.02
R4974:Or4p18	UTSW	2	88,232,756 (GRCm39)	missense	probably damaging	1.00
R5909:Or4p18	UTSW	2	88,232,535 (GRCm39)	missense	probably damaging	0.98
R6931:Or4p18	UTSW	2	88,232,408 (GRCm39)	missense	probably benign	0.01
R6990:Or4p18	UTSW	2	88,232,639 (GRCm39)	missense	probably benign	0.13
R7167:Or4p18	UTSW	2	88,232,552 (GRCm39)	missense	possibly damaging	0.46
R8121:Or4p18	UTSW	2	88,233,040 (GRCm39)	missense	probably benign
R8140:Or4p18	UTSW	2	88,232,457 (GRCm39)	missense	possibly damaging	0.74
R8269:Or4p18	UTSW	2	88,232,381 (GRCm39)	missense	probably damaging	0.98
R8832:Or4p18	UTSW	2	88,233,137 (GRCm39)	missense	probably damaging	0.98
R9269:Or4p18	UTSW	2	88,232,586 (GRCm39)	missense	probably benign	0.06
Z1176:Or4p18	UTSW	2	88,232,466 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCACAGGTCTGACAAAGC -3'
(R):5'- AGAGTGATAATGAGATTACGCCCC -3'

Sequencing Primer
(F):5'- GGTCTGACAAAGCAAGGTAATTAAG -3'
(R):5'- GAGATTACGCCCCTAAATTCATTTG -3'

Posted On

2016-07-06