Mutagenetix > Incidental Mutation

Incidental Mutation 'R1526:Or4p18'

167416

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

039566-MU

Accession Numbers

Essential gene?

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

Stock #

R1526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88232353-88233276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88232777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 167 (C167Y)

Ref Sequence

ENSEMBL: ENSMUSP00000151174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099825] [ENSMUST00000213157] [ENSMUST00000214040]

AlphaFold

A2AUS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000099825
AA Change: C167Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097413
Gene: ENSMUSG00000075127
AA Change: C167Y

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 damaging
Transcript: ENSMUST00000213157
AA Change: C167Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000214040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219086

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap2	G	T	12: 21,235,188 (GRCm39)	A97S	probably damaging	Het
Brd10	T	C	19: 29,712,545 (GRCm39)	K785E	probably damaging	Het
C1qtnf1	A	T	11: 118,334,616 (GRCm39)	E32V	possibly damaging	Het
Ccdc81	A	G	7: 89,525,081 (GRCm39)	L500P	probably damaging	Het
Cdo1	T	C	18: 46,861,130 (GRCm39)	E27G	probably benign	Het
Ceacam5	G	A	7: 17,484,620 (GRCm39)	G454D	probably damaging	Het
Cemip	T	C	7: 83,600,648 (GRCm39)	D991G	probably damaging	Het
Cep170	A	C	1: 176,616,071 (GRCm39)	I79S	probably damaging	Het
Cep19	A	G	16: 31,926,039 (GRCm39)	Q149R	possibly damaging	Het
Cideb	A	T	14: 55,992,619 (GRCm39)	L99*	probably null	Het
Cntnap5a	A	G	1: 116,356,207 (GRCm39)	N746S	probably benign	Het
Col12a1	T	C	9: 79,564,080 (GRCm39)	N1715S	probably benign	Het
Col3a1	T	C	1: 45,360,848 (GRCm39)	S93P	unknown	Het
Csmd3	C	A	15: 47,449,028 (GRCm39)		probably null	Het
Disp3	T	C	4: 148,344,373 (GRCm39)	I510V	probably benign	Het
Drosha	T	A	15: 12,914,070 (GRCm39)	V1115E	probably damaging	Het
Dzip3	A	C	16: 48,757,369 (GRCm39)	L888R	probably damaging	Het
Emx2	C	A	19: 59,452,442 (GRCm39)	A242E	probably benign	Het
Fto	G	A	8: 92,168,314 (GRCm39)	E256K	possibly damaging	Het
Gabrb2	A	C	11: 42,482,715 (GRCm39)	Y191S	possibly damaging	Het
Gm6526	A	T	14: 43,987,394 (GRCm39)	H110L	probably damaging	Het
Grin3b	T	A	10: 79,810,436 (GRCm39)	N647K	probably damaging	Het
Ifit2	T	G	19: 34,550,602 (GRCm39)	S47R	probably benign	Het
Il5ra	A	T	6: 106,712,781 (GRCm39)	V244E	possibly damaging	Het
Inppl1	A	G	7: 101,482,153 (GRCm39)	L141P	probably benign	Het
Iws1	A	G	18: 32,213,178 (GRCm39)	D202G	probably benign	Het
Kctd4	A	C	14: 76,200,523 (GRCm39)	I165L	probably benign	Het
Lrch3	G	A	16: 32,770,746 (GRCm39)	C116Y	probably damaging	Het
Mettl25	T	C	10: 105,668,844 (GRCm39)	T93A	possibly damaging	Het
Mgat4d	A	G	8: 84,095,666 (GRCm39)	I314V	probably benign	Het
Mrgprb4	A	T	7: 47,848,159 (GRCm39)	Y256*	probably null	Het
Myo9b	G	T	8: 71,808,408 (GRCm39)	V1672L	probably damaging	Het
Nek1	C	T	8: 61,502,975 (GRCm39)	P449L	probably benign	Het
Nucb2	G	A	7: 116,123,642 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,919,412 (GRCm39)	Y6864C	probably damaging	Het
Omt2b	A	T	9: 78,235,420 (GRCm39)		probably benign	Het
Or2y3	T	A	17: 38,393,486 (GRCm39)	I128F	probably damaging	Het
Or5ac15	G	A	16: 58,940,293 (GRCm39)	L47F	probably damaging	Het
Or6c208	A	G	10: 129,224,176 (GRCm39)	K225E	probably benign	Het
Otogl	G	T	10: 107,705,387 (GRCm39)	P647T	probably damaging	Het
Oxnad1	A	G	14: 31,824,244 (GRCm39)	D271G	probably benign	Het
Pbx3	T	C	2: 34,261,776 (GRCm39)	I53V	probably damaging	Het
Pds5b	T	A	5: 150,639,865 (GRCm39)		probably null	Het
Ppp4r3a	A	T	12: 101,007,000 (GRCm39)	D810E	probably damaging	Het
Ptpro	A	T	6: 137,438,724 (GRCm39)	D1189V	probably damaging	Het
Ryr3	T	C	2: 112,492,002 (GRCm39)	N3758S	probably damaging	Het
Scarb2	G	A	5: 92,594,200 (GRCm39)	T454M	possibly damaging	Het
Sec23a	A	C	12: 59,032,972 (GRCm39)		probably null	Het
Spire2	C	T	8: 124,095,502 (GRCm39)	A535V	probably benign	Het
Svopl	A	T	6: 38,006,570 (GRCm39)	F142L	probably benign	Het
Tas2r144	T	C	6: 42,192,674 (GRCm39)	I138T	probably benign	Het
Tbc1d15	A	G	10: 115,039,135 (GRCm39)	M535T	probably benign	Het
Tnfaip1	C	T	11: 78,420,971 (GRCm39)	V30M	possibly damaging	Het
Topaz1	T	A	9: 122,625,108 (GRCm39)	W1398R	probably damaging	Het
Tpo	A	G	12: 30,134,694 (GRCm39)	S755P	probably damaging	Het
Ttn	G	T	2: 76,606,460 (GRCm39)	S18116R	probably damaging	Het
Vmn2r78	A	G	7: 86,571,465 (GRCm39)		probably null	Het
Wdr49	T	A	3: 75,304,227 (GRCm39)	K494M	probably benign	Het
Yeats2	A	G	16: 20,024,836 (GRCm39)	M697V	probably damaging	Het
Zfp407	G	A	18: 84,579,158 (GRCm39)	P652S	possibly damaging	Het
Zfp462	A	G	4: 55,009,002 (GRCm39)	M323V	probably benign	Het
Zfp629	G	T	7: 127,209,931 (GRCm39)	P626Q	possibly damaging	Het
Zfp804a	A	T	2: 82,088,532 (GRCm39)	Y787F	probably benign	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
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
R5173:Or4p18	UTSW	2	88,233,266 (GRCm39)	missense	probably benign	0.00
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'- GTGGCACCAAACTTTTCTCAAGGC -3'
(R):5'- GTGACACCCAAGTTTCTCACTGACC -3'

Sequencing Primer
(F):5'- TGCAGGATAAGCCCTGATG -3'
(R):5'- GAGGGATTGAGATCCTCATACTCAC -3'

Posted On

2014-04-13