Mutagenetix > Incidental Mutation

Incidental Mutation 'R8119:Or4f47'

631379

Institutional Source

Beutler Lab

Gene Symbol

Or4f47

Ensembl Gene

ENSMUSG00000050776

Gene Name

olfactory receptor family 4 subfamily F member 47

Synonyms

Olfr1317, GA_x6K02T2Q125-73188162-73189112, MOR245-4

MMRRC Submission

067548-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R8119 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111972292-111973242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111972908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 206 (I206N)

Ref Sequence

ENSEMBL: ENSMUSP00000150073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060098] [ENSMUST00000214801] [ENSMUST00000216988]

AlphaFold

Q8VF84

Predicted Effect

probably damaging
Transcript: ENSMUST00000060098
AA Change: I206N

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

SMART Domains

Protein: ENSMUSP00000058587
Gene: ENSMUSG00000050776
AA Change: I206N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	5.1e-40	PFAM
Pfam:7tm_1	41	287	5.2e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214801
AA Change: I206N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216988
AA Change: I206N

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.2%

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,087,930 (GRCm39)	I1066V	probably benign	Het
Abcd2	T	C	15: 91,033,197 (GRCm39)	T740A	probably benign	Het
Amigo1	T	C	3: 108,094,852 (GRCm39)	L117P	probably damaging	Het
Ankar	A	T	1: 72,686,160 (GRCm39)	S1347T	probably damaging	Het
Apol7e	T	C	15: 77,601,956 (GRCm39)	S185P	probably damaging	Het
Ash1l	G	A	3: 88,942,734 (GRCm39)	C2088Y	probably damaging	Het
Atrnl1	A	G	19: 57,630,895 (GRCm39)	T221A	probably benign	Het
Caln1	A	G	5: 130,851,825 (GRCm39)	S205G	probably damaging	Het
Cfap54	T	C	10: 92,704,672 (GRCm39)	I2803V	unknown	Het
Cfh	A	C	1: 140,047,753 (GRCm39)	F477V	possibly damaging	Het
Cldn23	A	G	8: 36,293,056 (GRCm39)	V144A	probably damaging	Het
Csmd1	A	G	8: 17,077,310 (GRCm39)	S116P	probably damaging	Het
Dgkd	A	T	1: 87,845,689 (GRCm39)	T299S	possibly damaging	Het
Fam20b	T	G	1: 156,518,072 (GRCm39)	T241P	probably damaging	Het
Fndc3b	A	T	3: 27,505,493 (GRCm39)	M925K	probably benign	Het
Ftdc1	C	A	16: 58,437,211 (GRCm39)	M32I	probably benign	Het
Ints3	C	T	3: 90,299,607 (GRCm39)	R987Q	probably damaging	Het
Kctd10	A	G	5: 114,505,316 (GRCm39)	V226A	probably damaging	Het
Lypd2	A	G	15: 74,604,881 (GRCm39)	V38A	probably benign	Het
Map3k1	T	C	13: 111,909,156 (GRCm39)	R265G	possibly damaging	Het
Mcc	C	T	18: 44,601,500 (GRCm39)	V610M	possibly damaging	Het
Mocs1	C	T	17: 49,756,547 (GRCm39)	R244C	probably damaging	Het
Nav2	A	G	7: 49,103,232 (GRCm39)	T677A	probably damaging	Het
Ngp	A	G	9: 110,251,421 (GRCm39)	N150D	probably benign	Het
Nipbl	C	T	15: 8,388,696 (GRCm39)	R308Q	probably benign	Het
Nsrp1	A	G	11: 76,939,177 (GRCm39)		probably null	Het
Or2y16	A	T	11: 49,334,953 (GRCm39)	I92F	probably damaging	Het
Or52n20	A	T	7: 104,320,061 (GRCm39)	I51F	probably damaging	Het
Pbld2	A	T	10: 62,889,656 (GRCm39)	D146V	probably benign	Het
Prss22	T	A	17: 24,213,701 (GRCm39)	K197*	probably null	Het
Ptprd	G	T	4: 76,047,263 (GRCm39)	S87R	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Slc25a35	T	C	11: 68,862,798 (GRCm39)	L251S	probably benign	Het
Slx4	A	T	16: 3,803,136 (GRCm39)	L1226*	probably null	Het
Smarca4	T	C	9: 21,558,922 (GRCm39)	V651A	possibly damaging	Het
Smarcad1	T	C	6: 65,071,303 (GRCm39)	F583L	probably benign	Het
Taf2	T	C	15: 54,894,526 (GRCm39)	K932E	probably benign	Het
Trav8d-1	A	T	14: 53,016,425 (GRCm39)	T104S	probably benign	Het
Trmt9b	G	A	8: 36,965,576 (GRCm39)	W32*	probably null	Het
Trpm4	A	T	7: 44,976,552 (GRCm39)	V155D	probably damaging	Het
Ttc6	A	T	12: 57,752,429 (GRCm39)	Y1445F	possibly damaging	Het
Ttll5	C	A	12: 86,067,322 (GRCm39)	N1270K	probably damaging	Het
Usp40	G	T	1: 87,895,400 (GRCm39)		probably null	Het
Vmn2r74	T	C	7: 85,610,690 (GRCm39)	M1V	probably null	Het
Wwox	T	C	8: 115,433,108 (GRCm39)	V258A	probably damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp770	G	A	2: 114,027,508 (GRCm39)	T187I	probably damaging	Het
Zranb2	A	G	3: 157,241,969 (GRCm39)		probably null	Het
Zscan4-ps3	A	G	7: 11,344,267 (GRCm39)	Q75R	probably damaging	Het

Other mutations in Or4f47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03294:Or4f47	APN	2	111,972,518 (GRCm39)	missense	probably benign	0.12
R1390:Or4f47	UTSW	2	111,972,952 (GRCm39)	missense	probably benign	0.35
R1404:Or4f47	UTSW	2	111,972,968 (GRCm39)	missense	probably benign	0.01
R1404:Or4f47	UTSW	2	111,972,968 (GRCm39)	missense	probably benign	0.01
R1771:Or4f47	UTSW	2	111,973,065 (GRCm39)	nonsense	probably null
R3500:Or4f47	UTSW	2	111,972,472 (GRCm39)	missense	possibly damaging	0.64
R3894:Or4f47	UTSW	2	111,972,359 (GRCm39)	missense	probably benign	0.04
R4289:Or4f47	UTSW	2	111,972,319 (GRCm39)	missense	probably benign	0.28
R5646:Or4f47	UTSW	2	111,973,028 (GRCm39)	missense	possibly damaging	0.95
R6336:Or4f47	UTSW	2	111,972,751 (GRCm39)	missense	probably benign	0.10
R6439:Or4f47	UTSW	2	111,972,509 (GRCm39)	missense	probably benign	0.03
R6450:Or4f47	UTSW	2	111,972,725 (GRCm39)	nonsense	probably null
R6737:Or4f47	UTSW	2	111,972,548 (GRCm39)	missense	probably damaging	1.00
R7269:Or4f47	UTSW	2	111,972,905 (GRCm39)	missense	probably damaging	1.00
R7336:Or4f47	UTSW	2	111,972,514 (GRCm39)	missense	possibly damaging	0.80
R7597:Or4f47	UTSW	2	111,972,925 (GRCm39)	missense	probably benign	0.05
R8088:Or4f47	UTSW	2	111,972,602 (GRCm39)	missense	probably benign	0.45
R8351:Or4f47	UTSW	2	111,972,406 (GRCm39)	missense	probably benign	0.00
R8451:Or4f47	UTSW	2	111,972,406 (GRCm39)	missense	probably benign	0.00
R9207:Or4f47	UTSW	2	111,972,397 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- CACTACCTGACCATCATGAGTC -3'
(R):5'- TCGGGAAAGGCCACACATAG -3'

Sequencing Primer
(F):5'- GACCATCATGAGTCTCAGAATGTGC -3'
(R):5'- GGCCACACATAGACAATAATGCAAGG -3'

Posted On

2020-06-30