Mutagenetix > Incidental Mutation

Incidental Mutation 'R5208:Or4f54'

402132

Institutional Source

Beutler Lab

Gene Symbol

Or4f54

Ensembl Gene

ENSMUSG00000068647

Gene Name

olfactory receptor family 4 subfamily F member 54

Synonyms

MOR245-11, Olfr1278, GA_x6K02T2Q125-72343713-72344654

MMRRC Submission

042783-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5208 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111122615-111123556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111122946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 111 (E111V)

Ref Sequence

ENSEMBL: ENSMUSP00000150587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090330] [ENSMUST00000213516] [ENSMUST00000213727] [ENSMUST00000214669] [ENSMUST00000215210] [ENSMUST00000216229]

AlphaFold

Q8VF39

Predicted Effect

probably damaging
Transcript: ENSMUST00000090330
AA Change: E111V

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

SMART Domains

Protein: ENSMUSP00000087802
Gene: ENSMUSG00000068647
AA Change: E111V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	2.3e-43	PFAM
Pfam:7TM_GPCR_Srsx	35	281	5.3e-6	PFAM
Pfam:7tm_1	41	288	1.1e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213516
AA Change: E111V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213727
AA Change: E111V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214669
AA Change: E111V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215210
AA Change: E111V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216229
AA Change: E111V

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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
Aadacl4	A	T	4: 144,344,398 (GRCm39)	N58I	probably benign	Het
Adgra3	T	C	5: 50,168,857 (GRCm39)	D163G	probably damaging	Het
Alcam	C	A	16: 52,115,411 (GRCm39)	E236*	probably null	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Aplf	G	T	6: 87,619,008 (GRCm39)		probably null	Het
Arl4a	A	T	12: 40,086,744 (GRCm39)	M1K	probably null	Het
Asic4	A	G	1: 75,427,870 (GRCm39)	D132G	probably damaging	Het
Bbs12	T	C	3: 37,374,422 (GRCm39)	I290T	probably benign	Het
BC024139	A	G	15: 76,008,865 (GRCm39)	S290P	probably benign	Het
Bmp6	G	A	13: 38,653,673 (GRCm39)	A247T	probably benign	Het
Cadps	A	G	14: 12,457,711 (GRCm38)	S1057P	possibly damaging	Het
Caprin1	A	C	2: 103,599,778 (GRCm39)		probably null	Het
Cdc42bpg	G	A	19: 6,371,750 (GRCm39)	R1343K	probably benign	Het
Cdk18	A	T	1: 132,045,218 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,403,243 (GRCm39)		probably null	Het
Cfhr1	A	T	1: 139,484,068 (GRCm39)		probably null	Het
Chn2	A	T	6: 54,272,786 (GRCm39)	I201F	probably damaging	Het
Chrdl2	A	G	7: 99,673,129 (GRCm39)	D175G	probably damaging	Het
Disp2	G	T	2: 118,622,286 (GRCm39)	R1006L	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah3	C	G	7: 119,631,861 (GRCm39)	D1365H	probably damaging	Het
Efcab8	T	A	2: 153,644,343 (GRCm39)	Y372*	probably null	Het
Eftud2	G	A	11: 102,732,011 (GRCm39)	P768S	probably damaging	Het
Ehmt1	A	C	2: 24,691,545 (GRCm39)	S1170A	probably benign	Het
Gdpd4	A	C	7: 97,664,118 (GRCm39)	K572Q	probably benign	Het
Gm7356	T	C	17: 14,221,456 (GRCm39)	E191G	probably damaging	Het
Gm8674	A	T	13: 50,055,957 (GRCm39)		noncoding transcript	Het
Gulp1	T	G	1: 44,820,199 (GRCm39)	H235Q	probably benign	Het
Hormad1	T	C	3: 95,485,418 (GRCm39)	V202A	possibly damaging	Het
Inpp5b	G	A	4: 124,645,110 (GRCm39)	D179N	possibly damaging	Het
Kcnk4	T	A	19: 6,905,069 (GRCm39)	Y194F	possibly damaging	Het
Lars1	A	C	18: 42,350,622 (GRCm39)	S896A	probably benign	Het
Lonp1	A	G	17: 56,924,793 (GRCm39)	V538A	probably damaging	Het
Map3k14	A	T	11: 103,129,972 (GRCm39)	L315Q	probably damaging	Het
Met	T	A	6: 17,526,422 (GRCm39)	Y500*	probably null	Het
Mga	T	G	2: 119,778,462 (GRCm39)	I2093M	possibly damaging	Het
Mpl	T	G	4: 118,313,078 (GRCm39)	I152L	probably benign	Het
Mthfsd	G	A	8: 121,835,058 (GRCm39)		probably benign	Het
Mup4	A	G	4: 59,958,119 (GRCm39)	F150L	probably damaging	Het
Mybph	T	A	1: 134,121,273 (GRCm39)	V11D	probably benign	Het
Or52n2c	A	G	7: 104,574,933 (GRCm39)	F13L	probably benign	Het
Or5ak20	T	A	2: 85,184,142 (GRCm39)	I43F	probably benign	Het
Pde4a	T	C	9: 21,114,854 (GRCm39)		probably null	Het
Pex2	C	T	3: 5,626,428 (GRCm39)	R127H	probably benign	Het
Pgap3	A	G	11: 98,288,874 (GRCm39)	W94R	probably damaging	Het
Prl4a1	T	C	13: 28,202,467 (GRCm39)	V14A	probably benign	Het
Psg25	A	T	7: 18,260,460 (GRCm39)	I146N	probably benign	Het
Ptprn2	A	G	12: 116,822,548 (GRCm39)	Y209C	probably damaging	Het
Scart2	C	A	7: 139,877,949 (GRCm39)	A977D	probably benign	Het
Sema4c	T	A	1: 36,589,407 (GRCm39)	D573V	probably damaging	Het
Setx	A	T	2: 29,056,379 (GRCm39)	I2192F	possibly damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Sp4	A	G	12: 118,263,281 (GRCm39)	L255P	probably damaging	Het
Spaca7	A	G	8: 12,636,456 (GRCm39)	Y94C	probably damaging	Het
Stt3a	T	G	9: 36,657,891 (GRCm39)	I390L	possibly damaging	Het
Tars2	A	G	3: 95,654,905 (GRCm39)	W128R	probably damaging	Het
Tll1	G	A	8: 64,504,527 (GRCm39)	T623M	probably damaging	Het
Tmem129	A	T	5: 33,812,850 (GRCm39)	V166E	probably damaging	Het
Tmem200a	T	A	10: 25,870,051 (GRCm39)	I73F	probably benign	Het
Tnks1bp1	T	C	2: 84,900,976 (GRCm39)	M1561T	probably damaging	Het
Zfat	A	T	15: 68,052,570 (GRCm39)	I401N	probably damaging	Het
Zfp142	A	T	1: 74,610,027 (GRCm39)	V1153E	probably benign	Het
Zwilch	T	C	9: 64,060,205 (GRCm39)	I354V	probably benign	Het

Other mutations in Or4f54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Or4f54	APN	2	111,122,864 (GRCm39)	missense	probably benign	0.11
IGL02301:Or4f54	APN	2	111,123,042 (GRCm39)	missense	probably benign	0.03
IGL02480:Or4f54	APN	2	111,122,858 (GRCm39)	missense	possibly damaging	0.66
IGL03056:Or4f54	APN	2	111,123,517 (GRCm39)	missense	possibly damaging	0.90
IGL03327:Or4f54	APN	2	111,122,807 (GRCm39)	missense	probably damaging	1.00
R0284:Or4f54	UTSW	2	111,122,931 (GRCm39)	missense	probably benign	0.34
R1614:Or4f54	UTSW	2	111,123,411 (GRCm39)	missense	probably damaging	0.97
R1698:Or4f54	UTSW	2	111,122,905 (GRCm39)	nonsense	probably null
R1733:Or4f54	UTSW	2	111,123,210 (GRCm39)	missense	probably damaging	0.98
R2265:Or4f54	UTSW	2	111,123,524 (GRCm39)	missense	probably benign	0.01
R4857:Or4f54	UTSW	2	111,123,488 (GRCm39)	missense	possibly damaging	0.95
R5061:Or4f54	UTSW	2	111,122,832 (GRCm39)	missense	probably damaging	1.00
R5940:Or4f54	UTSW	2	111,122,729 (GRCm39)	missense	possibly damaging	0.80
R6355:Or4f54	UTSW	2	111,123,230 (GRCm39)	missense	probably benign	0.05
R6820:Or4f54	UTSW	2	111,123,455 (GRCm39)	missense	probably damaging	1.00
R8204:Or4f54	UTSW	2	111,123,485 (GRCm39)	missense	probably damaging	1.00
R8858:Or4f54	UTSW	2	111,123,503 (GRCm39)	missense	probably benign	0.02
R8991:Or4f54	UTSW	2	111,123,348 (GRCm39)	missense	probably damaging	0.99
R9493:Or4f54	UTSW	2	111,122,736 (GRCm39)	missense	probably damaging	1.00
R9517:Or4f54	UTSW	2	111,123,033 (GRCm39)	missense	possibly damaging	0.81
R9656:Or4f54	UTSW	2	111,122,633 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACGCTAGCCTTTGACCCAC -3'
(R):5'- CTATGCAGGCCAGTTTGATAAAC -3'

Sequencing Primer
(F):5'- GCTAGCCTTTGACCCACATTTAC -3'
(R):5'- AAGCTATCTATCTCATTAGGACCAC -3'

Posted On

2016-07-22