Mutagenetix > Incidental Mutation

Incidental Mutation 'R8474:Or4f62'

657148

Institutional Source

Beutler Lab

Gene Symbol

Or4f62

Ensembl Gene

ENSMUSG00000049758

Gene Name

olfactory receptor family 4 subfamily F member 62

Synonyms

MOR245-16, GA_x6K02T2Q125-73202172-73203134, Olfr1318

MMRRC Submission

067918-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111986243-111987352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111986320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 8 (M8T)

Ref Sequence

ENSEMBL: ENSMUSP00000151164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058176] [ENSMUST00000214063] [ENSMUST00000217533]

AlphaFold

Q7TQW6

Predicted Effect

probably benign
Transcript: ENSMUST00000058176
AA Change: M8T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051938
Gene: ENSMUSG00000049758
AA Change: M8T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	2.4e-39	PFAM
Pfam:7tm_1	41	287	1.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214063
AA Change: M8T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000217533
AA Change: M8T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,576,638 (GRCm39)	S975T	probably damaging	Het
Adgrg1	C	G	8: 95,729,936 (GRCm39)	T46S	probably damaging	Het
Akip1	T	A	7: 109,306,697 (GRCm39)	D131E	probably benign	Het
Arhgef39	A	G	4: 43,498,015 (GRCm39)	V163A	probably benign	Het
Atg2a	T	C	19: 6,301,433 (GRCm39)		probably null	Het
Bcam	A	T	7: 19,494,325 (GRCm39)	L357*	probably null	Het
Bcat2	A	G	7: 45,237,075 (GRCm39)	N194S	probably damaging	Het
Bcl2l14	T	C	6: 134,400,720 (GRCm39)	L47P	probably benign	Het
Cbln1	C	T	8: 88,198,673 (GRCm39)	A66T	possibly damaging	Het
Ccdc191	G	T	16: 43,710,262 (GRCm39)		probably benign	Het
Cd70	C	T	17: 57,456,468 (GRCm39)	S45N	possibly damaging	Het
Cfap43	G	A	19: 47,886,363 (GRCm39)	A84V	probably benign	Het
Clca3a1	T	A	3: 144,710,792 (GRCm39)	N804Y	possibly damaging	Het
Cmah	A	T	13: 24,601,350 (GRCm39)	N52I	probably damaging	Het
Crot	A	G	5: 9,043,518 (GRCm39)	Y35H	probably damaging	Het
Cyp3a59	C	A	5: 146,041,487 (GRCm39)	P344T	probably benign	Het
Dnah5	A	G	15: 28,247,978 (GRCm39)	E705G	probably benign	Het
Dnm2	A	G	9: 21,377,016 (GRCm39)	Y125C	probably damaging	Het
Dst	A	G	1: 34,208,266 (GRCm39)	Y739C	probably damaging	Het
Eif3a	A	T	19: 60,767,929 (GRCm39)	M203K	possibly damaging	Het
Enpep	C	T	3: 129,113,076 (GRCm39)	V283M	probably damaging	Het
Ephx3	A	G	17: 32,407,219 (GRCm39)	S240P	probably damaging	Het
Evi5l	T	C	8: 4,260,784 (GRCm39)	H1011R	possibly damaging	Het
Fig4	A	T	10: 41,108,170 (GRCm39)	F677I	probably benign	Het
Gramd1b	A	G	9: 40,287,207 (GRCm39)		probably null	Het
Gse1	C	T	8: 121,295,123 (GRCm39)		probably benign	Het
Hoxa9	A	G	6: 52,202,506 (GRCm39)		probably null	Het
Ice1	A	T	13: 70,752,566 (GRCm39)	S1173R	probably benign	Het
Ifi207	G	A	1: 173,556,605 (GRCm39)	T718I	possibly damaging	Het
Ifit1bl1	A	G	19: 34,572,262 (GRCm39)	L65P	probably damaging	Het
Impact	T	C	18: 13,107,798 (GRCm39)	I22T	probably damaging	Het
Lrp1	A	G	10: 127,375,572 (GRCm39)	C4409R	probably damaging	Het
Mark1	A	G	1: 184,651,783 (GRCm39)	W131R	probably damaging	Het
Mindy3	T	C	2: 12,404,839 (GRCm39)	T190A	probably damaging	Het
Mybbp1a	A	G	11: 72,338,563 (GRCm39)	D721G	probably benign	Het
Myo1d	A	G	11: 80,561,745 (GRCm39)	V466A	possibly damaging	Het
Myo5b	A	C	18: 74,903,411 (GRCm39)	D1809A	probably damaging	Het
Nudcd2	C	T	11: 40,624,850 (GRCm39)	Q20*	probably null	Het
Or5b101	A	G	19: 13,005,357 (GRCm39)	L112P	probably damaging	Het
Or8g2b	T	A	9: 39,751,048 (GRCm39)	L106H	possibly damaging	Het
Pcif1	A	T	2: 164,730,272 (GRCm39)	D335V	probably damaging	Het
Pebp4	T	A	14: 70,085,136 (GRCm39)	C65S	possibly damaging	Het
Ptger1	C	T	8: 84,395,267 (GRCm39)	A248V	probably benign	Het
Qki	A	T	17: 10,537,747 (GRCm39)	M19K	probably benign	Het
Ralgapa2	C	G	2: 146,266,750 (GRCm39)	A609P	probably damaging	Het
Robo2	C	T	16: 73,745,150 (GRCm39)	G875D	probably damaging	Het
Runx2	A	G	17: 44,919,147 (GRCm39)	V375A	probably damaging	Het
Sis	A	T	3: 72,836,730 (GRCm39)	F841I	probably damaging	Het
Slc5a8	A	G	10: 88,757,552 (GRCm39)	D514G	possibly damaging	Het
Spag17	A	T	3: 99,934,586 (GRCm39)	T623S	probably benign	Het
Sppl2c	A	G	11: 104,078,963 (GRCm39)	S588G	probably benign	Het
Stxbp6	A	C	12: 44,949,704 (GRCm39)	V75G	possibly damaging	Het
Tmc3	G	A	7: 83,259,122 (GRCm39)	R531Q	probably damaging	Het
Tmem258	T	C	19: 10,184,550 (GRCm39)	Y41H	probably damaging	Het
Tsks	A	T	7: 44,600,263 (GRCm39)	T91S	probably damaging	Het
Vmn2r23	T	C	6: 123,681,599 (GRCm39)	V169A	probably benign	Het
Wdr54	T	C	6: 83,129,985 (GRCm39)	N282S	probably benign	Het
Yme1l1	T	A	2: 23,052,584 (GRCm39)	N79K	probably benign	Het

Other mutations in Or4f62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Or4f62	APN	2	111,986,412 (GRCm39)	missense	probably benign
IGL00923:Or4f62	APN	2	111,987,122 (GRCm39)	missense	possibly damaging	0.75
IGL02800:Or4f62	APN	2	111,986,589 (GRCm39)	missense	possibly damaging	0.95
R0012:Or4f62	UTSW	2	111,987,171 (GRCm39)	missense	possibly damaging	0.84
R1614:Or4f62	UTSW	2	111,986,862 (GRCm39)	missense	probably damaging	1.00
R1989:Or4f62	UTSW	2	111,986,722 (GRCm39)	missense	probably benign	0.00
R2428:Or4f62	UTSW	2	111,986,787 (GRCm39)	missense	probably benign	0.03
R2963:Or4f62	UTSW	2	111,986,804 (GRCm39)	nonsense	probably null
R4868:Or4f62	UTSW	2	111,986,916 (GRCm39)	missense	probably damaging	0.99
R4960:Or4f62	UTSW	2	111,986,697 (GRCm39)	missense	probably benign	0.00
R5121:Or4f62	UTSW	2	111,986,631 (GRCm39)	missense	possibly damaging	0.47
R6218:Or4f62	UTSW	2	111,986,701 (GRCm39)	missense	probably damaging	0.99
R6294:Or4f62	UTSW	2	111,986,364 (GRCm39)	missense	probably benign
R6350:Or4f62	UTSW	2	111,986,542 (GRCm39)	missense	probably damaging	0.99
R6515:Or4f62	UTSW	2	111,986,710 (GRCm39)	missense	probably benign	0.00
R6722:Or4f62	UTSW	2	111,987,227 (GRCm39)	missense	probably benign
R6829:Or4f62	UTSW	2	111,986,139 (GRCm39)	intron	probably benign
R7186:Or4f62	UTSW	2	111,986,507 (GRCm39)	missense	probably damaging	1.00
R7206:Or4f62	UTSW	2	111,986,804 (GRCm39)	missense	probably damaging	1.00
R7444:Or4f62	UTSW	2	111,987,060 (GRCm39)	missense	probably damaging	1.00
R8293:Or4f62	UTSW	2	111,986,598 (GRCm39)	missense	probably benign	0.07
R8712:Or4f62	UTSW	2	111,986,934 (GRCm39)	missense	probably damaging	1.00
R8749:Or4f62	UTSW	2	111,986,869 (GRCm39)	missense	possibly damaging	0.60
R8888:Or4f62	UTSW	2	111,986,974 (GRCm39)	missense	probably benign	0.00
R9223:Or4f62	UTSW	2	111,986,473 (GRCm39)	missense	possibly damaging	0.58
R9406:Or4f62	UTSW	2	111,986,643 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAGGTCACCCAAAATATGTAAGCATAG -3'
(R):5'- TGCCAGCAGGAAGTACATGG -3'

Sequencing Primer
(F):5'- GCATAGGAAAATTCTGTACCTCAGC -3'
(R):5'- TACATGGGGGAGTGCAGGTG -3'

Posted On

2021-01-18