Mutagenetix > Incidental Mutation

Incidental Mutation 'R8269:Or4p18'

639479

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

067693-MU

Accession Numbers

Essential gene?

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

Stock #

R8269 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88232353-88233276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88232381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 299 (V299D)

Ref Sequence

ENSEMBL: ENSMUSP00000097413 (fasta)

Gene Model

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

AlphaFold

A2AUS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000099825
AA Change: V299D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097413
Gene: ENSMUSG00000075127
AA Change: V299D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	C	14: 8,246,325 (GRCm38)	T489A	probably benign	Het
Adgra3	A	T	5: 50,121,079 (GRCm39)	C850S	probably damaging	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
Akap11	G	A	14: 78,750,818 (GRCm39)	T523I		Het
Amigo2	G	T	15: 97,144,112 (GRCm39)	N103K	possibly damaging	Het
Arfgap3	A	C	15: 83,194,542 (GRCm39)	S377A	probably benign	Het
Arhgap39	G	T	15: 76,635,942 (GRCm39)	Q98K	probably benign	Het
Atp1a4	T	C	1: 172,059,892 (GRCm39)	D779G	probably damaging	Het
Bckdhb	T	C	9: 84,004,417 (GRCm39)	I388T	probably benign	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Cd109	A	G	9: 78,572,964 (GRCm39)	K496R	probably benign	Het
Cnot1	A	G	8: 96,478,389 (GRCm39)	F979L	probably damaging	Het
Cyb5r1	T	A	1: 134,334,803 (GRCm39)		probably benign	Het
D130040H23Rik	T	A	8: 69,755,800 (GRCm39)	S402T	probably benign	Het
Dmtf1	A	T	5: 9,182,500 (GRCm39)	Y211*	probably null	Het
Dnah6	A	G	6: 73,145,810 (GRCm39)		probably null	Het
Emc10	G	T	7: 44,141,408 (GRCm39)	Q227K	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Exosc4	A	T	15: 76,211,732 (GRCm39)	I14L	probably benign	Het
Fat2	T	C	11: 55,173,535 (GRCm39)	T2393A	possibly damaging	Het
Flg2	A	T	3: 93,109,187 (GRCm39)	H405L	possibly damaging	Het
Gin1	T	A	1: 97,710,929 (GRCm39)	M204K	probably damaging	Het
Gm57858	A	T	3: 36,100,862 (GRCm39)	N103K	possibly damaging	Het
Gnal	A	G	18: 67,268,693 (GRCm39)	D193G	possibly damaging	Het
Itpr3	G	T	17: 27,312,258 (GRCm39)	R554L	possibly damaging	Het
Lipc	A	G	9: 70,727,655 (GRCm39)	L149P	probably damaging	Het
Lrrc37a	A	G	11: 103,388,724 (GRCm39)	Y2234H	unknown	Het
Lsm14b	T	C	2: 179,674,407 (GRCm39)	S317P	probably damaging	Het
Mapk4	G	C	18: 74,063,622 (GRCm39)	F533L	probably damaging	Het
Mgll	T	A	6: 88,790,930 (GRCm39)	Y183*	probably null	Het
Mrrf	T	A	2: 36,037,973 (GRCm39)	D81E	possibly damaging	Het
Ncan	T	A	8: 70,560,330 (GRCm39)	Q879L	probably benign	Het
Nox4	T	G	7: 86,955,930 (GRCm39)		probably benign	Het
Or5p67	A	T	7: 107,922,776 (GRCm39)	C36S	probably benign	Het
Pcdhb10	A	G	18: 37,547,062 (GRCm39)	K713E	probably benign	Het
Phkb	A	G	8: 86,756,211 (GRCm39)	D835G	probably benign	Het
Pld1	A	G	3: 28,079,388 (GRCm39)	N63D	probably benign	Het
Pls1	G	T	9: 95,644,023 (GRCm39)	T491K	probably damaging	Het
Plscr1	A	G	9: 92,145,095 (GRCm39)	D35G	unknown	Het
Slc28a2b	C	T	2: 122,352,169 (GRCm39)	H336Y	probably damaging	Het
Slc3a1	A	G	17: 85,339,982 (GRCm39)	K180R	probably benign	Het
Suv39h1	G	T	X: 7,937,270 (GRCm39)	Q129K	probably benign	Het
Tbc1d8	A	G	1: 39,465,169 (GRCm39)	V73A	probably benign	Het
Tmem161a	T	A	8: 70,634,608 (GRCm39)	V421E	probably benign	Het
Topbp1	C	A	9: 103,205,792 (GRCm39)	P810Q	possibly damaging	Het
Ttc28	G	A	5: 111,425,325 (GRCm39)	V1717M	probably benign	Het
Vmn2r55	T	A	7: 12,404,585 (GRCm39)	T273S	possibly damaging	Het
Vwa5b2	A	G	16: 20,423,188 (GRCm39)	D1062G	probably damaging	Het
Zcrb1	A	G	15: 93,295,056 (GRCm39)	Y27H	probably benign	Het
Zfp128	G	A	7: 12,624,663 (GRCm39)	G344R	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
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
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'- ACTCAGTACTTTAGGAGCACAAGG -3'
(R):5'- AAGCTCTTTCCACATGCAGTTC -3'

Sequencing Primer
(F):5'- TGTTCACTTGTTACATACACACACAC -3'
(R):5'- ATGCAGTTCTCATGTCACTGTTG -3'

Posted On

2020-07-28