Mutagenetix > Incidental Mutation

Incidental Mutation 'R8712:Or4f62'

669620

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

068566-MU

Accession Numbers

Essential gene?

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

Stock #

R8712 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111986243-111987352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111986934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 213 (I213F)

Ref Sequence

ENSEMBL: ENSMUSP00000148937 (fasta)

Gene Model

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

AlphaFold

Q7TQW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000058176
AA Change: I213F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051938
Gene: ENSMUSG00000049758
AA Change: I213F

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 damaging
Transcript: ENSMUST00000214063
AA Change: I213F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217533
AA Change: I213F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	T	16: 85,594,896 (GRCm39)	N617K	probably benign	Het
Adnp2	A	T	18: 80,174,185 (GRCm39)	C75S	probably damaging	Het
Agmo	T	C	12: 37,407,673 (GRCm39)	F186L	possibly damaging	Het
Ahnak2	T	C	12: 112,749,872 (GRCm39)	Y122C		Het
Ahnak2	T	C	12: 112,750,709 (GRCm39)	E71G		Het
Aldh5a1	A	G	13: 25,102,524 (GRCm39)	V313A	probably damaging	Het
Ankib1	C	A	5: 3,822,643 (GRCm39)	C21F	probably benign	Het
Aqr	A	G	2: 113,949,358 (GRCm39)	Y947H	probably damaging	Het
Atp1a2	T	A	1: 172,103,547 (GRCm39)	Y991F	probably benign	Het
Atp8b3	G	A	10: 80,365,923 (GRCm39)	T309M	possibly damaging	Het
Blzf1	T	A	1: 164,125,859 (GRCm39)	D259V	possibly damaging	Het
Cacng5	T	C	11: 107,772,510 (GRCm39)	I113V	probably benign	Het
Catsper3	T	C	13: 55,953,657 (GRCm39)	M269T	probably benign	Het
Ccdc142	A	C	6: 83,079,233 (GRCm39)	Y190S	probably damaging	Het
Ccdc159	C	A	9: 21,845,051 (GRCm39)	Q306K	probably benign	Het
Ccdc180	A	T	4: 45,920,842 (GRCm39)		probably null	Het
Cebpz	A	G	17: 79,229,081 (GRCm39)	F955S	possibly damaging	Het
Cftr	C	T	6: 18,274,696 (GRCm39)	T938I	probably damaging	Het
Col28a1	T	C	6: 8,013,133 (GRCm39)	K973R	probably benign	Het
Cyp2c29	T	C	19: 39,310,138 (GRCm39)		probably benign	Het
Ddx1	A	G	12: 13,293,859 (GRCm39)		probably benign	Het
Duox2	A	C	2: 122,119,826 (GRCm39)	Y867*	probably null	Het
Ereg	T	C	5: 91,237,013 (GRCm39)	Y111H	possibly damaging	Het
Esrrb	T	A	12: 86,565,724 (GRCm39)	L417Q	probably damaging	Het
Fbxw7	G	A	3: 84,859,684 (GRCm39)	R2H	unknown	Het
Galnt6	C	T	15: 100,592,501 (GRCm39)	V569I	probably benign	Het
Gm14226	G	A	2: 154,866,094 (GRCm39)	C17Y	unknown	Het
Gpr150	T	G	13: 76,204,642 (GRCm39)	D101A	probably damaging	Het
Grm1	A	T	10: 10,565,296 (GRCm39)	L1004Q	probably benign	Het
Gtf2a1l	T	A	17: 89,022,351 (GRCm39)	D447E	probably damaging	Het
Gtf2ird1	C	T	5: 134,444,064 (GRCm39)	V64M	probably damaging	Het
Ifi206	A	T	1: 173,308,074 (GRCm39)	W641R		Het
Ifi214	T	A	1: 173,355,486 (GRCm39)	E107D	possibly damaging	Het
Kif19a	T	C	11: 114,675,599 (GRCm39)	V357A	probably damaging	Het
Klhdc7b	T	A	15: 89,271,025 (GRCm39)	S636T	probably benign	Het
Klhl25	C	T	7: 75,515,420 (GRCm39)	R109C	probably damaging	Het
Ltbp2	T	C	12: 84,853,124 (GRCm39)	E835G	probably benign	Het
Marchf1	A	G	8: 66,921,000 (GRCm39)	K226E	probably damaging	Het
Mcpt1	T	C	14: 56,256,170 (GRCm39)		probably benign	Het
Myrf	C	A	19: 10,192,434 (GRCm39)	R639L	probably benign	Het
Naip5	T	C	13: 100,359,604 (GRCm39)	H544R	possibly damaging	Het
Nccrp1	T	C	7: 28,245,769 (GRCm39)	I132V	probably benign	Het
Nprl3	C	T	11: 32,187,334 (GRCm39)	V333I	possibly damaging	Het
Or13a25	C	T	7: 140,248,052 (GRCm39)	S277L	possibly damaging	Het
Or14n1-ps1	T	C	7: 86,092,923 (GRCm39)	S245P	probably damaging	Het
Or2o1	T	C	11: 49,051,297 (GRCm39)	M152T	probably benign	Het
Or2y1	T	A	11: 49,385,671 (GRCm39)	S104T	probably benign	Het
Or4b1d	A	T	2: 89,969,114 (GRCm39)	I123N	probably damaging	Het
Or52h1	T	C	7: 103,829,025 (GRCm39)	N197D	probably damaging	Het
Or56a41	C	A	7: 104,741,808 (GRCm39)	V73F	possibly damaging	Het
Or8c15	T	C	9: 38,121,099 (GRCm39)	V248A	probably benign	Het
Or8d6	T	C	9: 39,853,891 (GRCm39)	S112P	probably damaging	Het
Otx2	A	G	14: 48,896,521 (GRCm39)	M179T	probably damaging	Het
Pmfbp1	A	G	8: 110,265,309 (GRCm39)		probably benign	Het
Ppfia3	T	A	7: 45,011,129 (GRCm39)	T34S	probably benign	Het
Prkcsh	T	C	9: 21,924,375 (GRCm39)	Y502H	probably damaging	Het
Psd	T	C	19: 46,301,775 (GRCm39)	E937G	probably damaging	Het
Rbbp6	T	A	7: 122,600,976 (GRCm39)	I1661N	unknown	Het
Rhobtb1	T	A	10: 69,106,587 (GRCm39)	M446K	probably damaging	Het
Sall3	T	C	18: 81,017,236 (GRCm39)	I231V	probably benign	Het
Slc12a9	C	T	5: 137,325,916 (GRCm39)	V270I	probably damaging	Het
Slc6a15	A	G	10: 103,225,112 (GRCm39)	K67E	probably damaging	Het
Slc9c1	A	G	16: 45,380,646 (GRCm39)	D524G	probably benign	Het
Smpdl3a	A	G	10: 57,687,526 (GRCm39)	D418G	probably benign	Het
Sox6	T	C	7: 115,196,743 (GRCm39)	T296A	probably benign	Het
Ssu2	T	C	6: 112,361,399 (GRCm39)	E19G	probably damaging	Het
Tctn3	T	C	19: 40,600,170 (GRCm39)	N90S	probably damaging	Het
Tex24	A	G	8: 27,834,652 (GRCm39)	Q60R	possibly damaging	Het
Tlcd1	T	A	11: 78,070,470 (GRCm39)	*128R	probably null	Het
Tti1	A	C	2: 157,834,930 (GRCm39)	L1010R	probably damaging	Het
Ttn	A	G	2: 76,567,682 (GRCm39)	L27737P	probably damaging	Het
Ubqln5	T	A	7: 103,778,322 (GRCm39)	K167N	probably benign	Het
Unkl	A	G	17: 25,450,689 (GRCm39)	I492V	possibly damaging	Het
Vmn1r8	G	A	6: 57,013,665 (GRCm39)	V239I	probably benign	Het
Vmn2r101	T	A	17: 19,811,397 (GRCm39)	L494I	probably benign	Het
Vmn2r54	G	T	7: 12,369,877 (GRCm39)	T62K	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
R8474:Or4f62	UTSW	2	111,986,320 (GRCm39)	missense	probably benign
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'- CCATTCTGTGGCCCAATTGG -3'
(R):5'- AAATAGTCTCCTCATCGCAACCTTC -3'

Sequencing Primer
(F):5'- GGCTTTTGTTGTAAATTTACCCTTC -3'
(R):5'- GAGTGATAATGACATCGAAAATTGC -3'

Posted On

2021-04-30