Mutagenetix > Incidental Mutation

Incidental Mutation 'R6722:Or4f62'

529617

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

044840-MU

Accession Numbers

Essential gene?

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

Stock #

R6722 (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 A at 111987227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 310 (N310K)

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: N310K

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

SMART Domains

Protein: ENSMUSP00000051938
Gene: ENSMUSG00000049758
AA Change: N310K

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: N310K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216873

Predicted Effect

probably benign
Transcript: ENSMUST00000217533
AA Change: N310K

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

96% (52/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	G	12: 81,468,228 (GRCm39)	D131A	probably damaging	Het
Ank3	T	C	10: 69,826,074 (GRCm39)		probably benign	Het
Atp1a4	T	C	1: 172,085,617 (GRCm39)		probably benign	Het
Bmal2	T	A	6: 146,720,398 (GRCm39)	D187E	probably damaging	Het
Castor2	T	C	5: 134,164,458 (GRCm39)	S140P	probably benign	Het
Ccdc162	T	C	10: 41,520,637 (GRCm39)	N673S	probably benign	Het
Cd84	G	A	1: 171,700,344 (GRCm39)	V154M	probably damaging	Het
Celsr1	C	A	15: 85,790,115 (GRCm39)		probably null	Het
Cfap57	A	C	4: 118,441,914 (GRCm39)	L718R	probably damaging	Het
Cntnap5b	G	A	1: 100,406,211 (GRCm39)	V803M	probably damaging	Het
Col6a2	C	T	10: 76,450,392 (GRCm39)	V180I	probably damaging	Het
Coq4	A	T	2: 29,678,297 (GRCm39)		probably benign	Het
Cyp2a4	A	G	7: 26,012,983 (GRCm39)	T389A	probably benign	Het
Dennd1c	T	C	17: 57,373,802 (GRCm39)	D587G	probably benign	Het
Dnaja4	A	G	9: 54,607,038 (GRCm39)	D9G	probably damaging	Het
Hes2	T	G	4: 152,244,834 (GRCm39)	L101R	probably damaging	Het
Icam2	A	G	11: 106,273,307 (GRCm39)	S2P	probably damaging	Het
Krt31	A	G	11: 99,939,254 (GRCm39)	L221P	probably damaging	Het
Lipm	A	T	19: 34,098,665 (GRCm39)	N380Y	probably benign	Het
Lrp2bp	G	A	8: 46,473,600 (GRCm39)		probably null	Het
Mbd2	T	A	18: 70,713,819 (GRCm39)	M216K	probably damaging	Het
Mrps33	T	C	6: 39,782,599 (GRCm39)		probably benign	Het
Nbeal2	T	C	9: 110,462,060 (GRCm39)	D1459G	probably damaging	Het
Ncapd3	T	C	9: 26,998,852 (GRCm39)	S1281P	probably benign	Het
Nt5c1b	T	A	12: 10,422,874 (GRCm39)	Y56N	possibly damaging	Het
Nthl1	A	G	17: 24,853,008 (GRCm39)	K71E	probably benign	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pde4a	G	A	9: 21,122,521 (GRCm39)	A806T	probably damaging	Het
Pde4d	C	A	13: 109,769,432 (GRCm39)	S40*	probably null	Het
Pde4dip	G	A	3: 97,625,555 (GRCm39)	R1348*	probably null	Het
Pdx1	C	T	5: 147,207,310 (GRCm39)	P88S	probably damaging	Het
Pnisr	T	A	4: 21,859,165 (GRCm39)	V120D	probably damaging	Het
Prss51	G	T	14: 64,332,508 (GRCm39)	C65F	probably damaging	Het
Pus10	G	A	11: 23,652,975 (GRCm39)	E195K	possibly damaging	Het
Pzp	T	A	6: 128,464,917 (GRCm39)	Q1319L	probably damaging	Het
Rbpms	G	T	8: 34,324,421 (GRCm39)	T101K	probably damaging	Het
Rundc3a	A	G	11: 102,290,775 (GRCm39)	N281S	possibly damaging	Het
Scml4	C	T	10: 42,736,728 (GRCm39)		probably benign	Het
Sez6	T	C	11: 77,844,528 (GRCm39)	V117A	probably damaging	Het
Sgsm2	A	C	11: 74,756,250 (GRCm39)	C366W	probably damaging	Het
Slc12a4	T	C	8: 106,670,882 (GRCm39)		probably null	Het
Smg5	C	T	3: 88,260,332 (GRCm39)	R641C	probably damaging	Het
Stxbp3	A	G	3: 108,723,762 (GRCm39)	Y150H	probably benign	Het
Thoc2l	T	A	5: 104,668,145 (GRCm39)	M889K	probably damaging	Het
Tkt	T	C	14: 30,291,041 (GRCm39)	F351S	probably damaging	Het
Tln1	A	G	4: 43,547,618 (GRCm39)	L781P	probably damaging	Het
Triobp	G	A	15: 78,885,765 (GRCm39)	E1823K	probably damaging	Het
Ttll4	T	C	1: 74,720,948 (GRCm39)	V538A	possibly damaging	Het
Uba52rt	A	G	4: 3,973,386 (GRCm39)	Y59H	probably benign	Het
Vmn1r61	T	A	7: 5,613,687 (GRCm39)	N209I	possibly damaging	Het
Wdr75	T	A	1: 45,844,512 (GRCm39)		probably null	Het
Zfp985	T	C	4: 147,667,528 (GRCm39)	V132A	probably benign	Het
Zswim3	T	A	2: 164,662,544 (GRCm39)		probably null	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
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
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'- CTCAGGTGCTTCCTCCAAGG -3'
(R):5'- CTTCACTATCAAATTAAAGGCCTCATC -3'

Sequencing Primer
(F):5'- AAGGCCCTCTCCACTCTCTCAG -3'
(R):5'- GACATAAATTTTACACACACGTACAG -3'

Posted On

2018-08-01