Mutagenetix > Incidental Mutation

Incidental Mutation 'R8140:Or4p18'

632466

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

067568-MU

Accession Numbers

Essential gene?

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

Stock #

R8140 (G1)

Quality Score

124.008

Status

Validated

Chromosome

Chromosomal Location

88232353-88233276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88232457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 274 (T274A)

Ref Sequence

ENSEMBL: ENSMUSP00000151174 (fasta)

Gene Model

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

AlphaFold

A2AUS6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099825
AA Change: T274A

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097413
Gene: ENSMUSG00000075127
AA Change: T274A

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

possibly damaging
Transcript: ENSMUST00000213157
AA Change: T274A

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000214040

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,954 (GRCm39)	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,484,011 (GRCm39)		probably null	Het
Atp7b	C	A	8: 22,518,576 (GRCm39)	E87D	probably damaging	Het
Bcat2	C	T	7: 45,237,775 (GRCm39)	P347L	probably damaging	Het
Brox	A	T	1: 183,075,437 (GRCm39)		probably null	Het
Cd37	A	G	7: 44,887,959 (GRCm39)	I58T	probably damaging	Het
Cep295	A	T	9: 15,252,829 (GRCm39)	M333K	probably benign	Het
Chtop	A	G	3: 90,412,700 (GRCm39)		probably null	Het
Cpa2	A	T	6: 30,544,904 (GRCm39)	K54N	probably benign	Het
Cpa6	A	G	1: 10,395,519 (GRCm39)	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,540,748 (GRCm39)	I2542N	probably benign	Het
Eif5b	G	A	1: 38,090,357 (GRCm39)	V1179I	probably benign	Het
Erbin	T	C	13: 104,056,802 (GRCm39)		probably null	Het
Fastkd5	A	T	2: 130,457,170 (GRCm39)	D473E	possibly damaging	Het
Fchsd1	T	C	18: 38,097,395 (GRCm39)	E372G	probably damaging	Het
Fgl1	T	C	8: 41,653,646 (GRCm39)		probably null	Het
Fzd8	T	G	18: 9,213,797 (GRCm39)	V293G	probably damaging	Het
Gm4787	T	A	12: 81,424,925 (GRCm39)	H411L	probably benign	Het
Gm49380	G	T	9: 44,023,269 (GRCm39)	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,029,083 (GRCm39)	R240C	probably damaging	Het
Hdac5	A	T	11: 102,088,181 (GRCm39)	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,295,167 (GRCm39)	S301G	probably benign	Het
Htra4	A	T	8: 25,520,574 (GRCm39)	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,547,361 (GRCm39)	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,867,390 (GRCm39)	I751T	probably damaging	Het
Magi3	T	C	3: 103,941,402 (GRCm39)	Y851C	probably damaging	Het
Mefv	A	G	16: 3,531,499 (GRCm39)	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,843,091 (GRCm39)	V397I	probably benign	Het
Mroh1	C	A	15: 76,318,073 (GRCm39)	H867N	probably benign	Het
Mthfd1l	C	T	10: 3,957,745 (GRCm39)	R261*	probably null	Het
Myo3a	A	G	2: 22,412,157 (GRCm39)	I725M	probably damaging	Het
Neb	T	C	2: 52,099,552 (GRCm39)	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,270,156 (GRCm39)	P22Q	probably damaging	Het
Or5k15	T	C	16: 58,709,948 (GRCm39)	T212A	probably benign	Het
Or9q2	A	T	19: 13,772,603 (GRCm39)	V124E	possibly damaging	Het
Peg10	C	G	6: 4,756,113 (GRCm39)	Q230E	unknown	Het
Pipox	T	C	11: 77,774,735 (GRCm39)	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,774,236 (GRCm39)	R993H	probably benign	Het
Pkdrej	A	C	15: 85,702,611 (GRCm39)	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,637,202 (GRCm39)	R291Q	probably benign	Het
Pomt1	T	A	2: 32,134,309 (GRCm39)	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,126,805 (GRCm39)	S78P	probably damaging	Het
Rgl1	A	T	1: 152,433,252 (GRCm39)	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,912,666 (GRCm39)	E14G	unknown	Het
Sh3rf3	T	A	10: 58,885,177 (GRCm39)	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,541,233 (GRCm39)	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,621,762 (GRCm39)	D274E	probably damaging	Het
Syne2	T	A	12: 75,959,127 (GRCm39)	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,544,383 (GRCm39)	D2170A	probably damaging	Het
Tnr	A	G	1: 159,691,265 (GRCm39)	T472A	probably damaging	Het
Tspan9	T	C	6: 127,942,241 (GRCm39)	H203R	probably damaging	Het
Ttn	T	C	2: 76,601,995 (GRCm39)	T18556A	possibly damaging	Het
Usp25	T	A	16: 76,868,569 (GRCm39)	Y323*	probably null	Het
Usp31	G	T	7: 121,248,249 (GRCm39)	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 20,032,058 (GRCm39)	T611S	probably damaging	Het
Wdfy4	A	G	14: 32,864,317 (GRCm39)	V552A		Het
Zap70	G	T	1: 36,810,262 (GRCm39)	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,281,957 (GRCm39)	S91T	possibly 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
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'- TGAGATGTAGGAAGACAAACATCCC -3'
(R):5'- TTCAGGCATGATGGGACTGG -3'

Sequencing Primer
(F):5'- TAGGAAGACAAACATCCCATTTTAGC -3'
(R):5'- CATGATGGGACTGGTCACCTTC -3'

Posted On

2020-06-30