Mutagenetix > Incidental Mutation

Incidental Mutation 'R6450:Or4f47'

519329

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

044586-MU

Accession Numbers

Essential gene?

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

Stock #

R6450 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111972292-111973242 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 111972725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 145 (L145*)

Ref Sequence

ENSEMBL: ENSMUSP00000149091 (fasta)

Gene Model

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

AlphaFold

Q8VF84

Predicted Effect

probably null
Transcript: ENSMUST00000060098
AA Change: L145*

SMART Domains

Protein: ENSMUSP00000058587
Gene: ENSMUSG00000050776
AA Change: L145*

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

noncoding transcript
Transcript: ENSMUST00000213693

Predicted Effect

probably null
Transcript: ENSMUST00000214801
AA Change: L145*

Predicted Effect

probably null
Transcript: ENSMUST00000216988
AA Change: L145*

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.5%
20x: 95.1%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	G	7: 119,815,449 (GRCm39)	N232K	probably benign	Het
Acaca	T	A	11: 84,171,294 (GRCm39)	V5E	probably damaging	Het
Adam18	A	T	8: 25,119,691 (GRCm39)	D529E	probably benign	Het
Adgrb3	T	C	1: 25,459,683 (GRCm39)	T798A	probably benign	Het
Alyref	T	C	11: 120,486,872 (GRCm39)	T130A	probably benign	Het
Arhgap24	A	G	5: 103,044,990 (GRCm39)	S591G	probably benign	Het
Carmil1	C	T	13: 24,220,547 (GRCm39)	G655E	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,518 (GRCm39)		probably null	Het
Clec12a	T	A	6: 129,330,366 (GRCm39)	L48H	probably damaging	Het
Coq2	C	A	5: 100,809,770 (GRCm39)		probably benign	Het
Crb2	C	A	2: 37,683,838 (GRCm39)	F1113L	possibly damaging	Het
Ctla4	A	T	1: 60,951,872 (GRCm39)	M134L	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dync2i1	A	T	12: 116,210,347 (GRCm39)	Y314*	probably null	Het
Efhb	A	G	17: 53,759,632 (GRCm39)	V290A	possibly damaging	Het
Epha8	T	C	4: 136,659,210 (GRCm39)	N843S	probably damaging	Het
Eva1a	A	T	6: 82,069,086 (GRCm39)	I138F	probably damaging	Het
Fat2	T	A	11: 55,180,136 (GRCm39)	I1402F	probably damaging	Het
Fat3	A	T	9: 15,910,466 (GRCm39)	H1845Q	possibly damaging	Het
Gimap8	T	A	6: 48,633,385 (GRCm39)	F401L	probably benign	Het
Gpr162	C	T	6: 124,838,152 (GRCm39)	R166Q	possibly damaging	Het
H2ac8	A	G	13: 23,755,119 (GRCm39)	V55A	probably damaging	Het
Hdac4	G	A	1: 91,912,433 (GRCm39)	P348S	possibly damaging	Het
Hmcn2	T	C	2: 31,251,812 (GRCm39)	V849A	probably benign	Het
Inpp5b	T	A	4: 124,686,045 (GRCm39)	N696K	probably damaging	Het
Kdm5d	G	T	Y: 927,056 (GRCm39)	R598L	probably damaging	Homo
Kidins220	T	C	12: 25,107,190 (GRCm39)	S1548P	probably benign	Het
Kif2b	C	A	11: 91,467,192 (GRCm39)	V364L	probably damaging	Het
Kitl	A	G	10: 99,923,256 (GRCm39)	M1V	probably null	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Map6	T	C	7: 98,917,245 (GRCm39)	I6T	probably damaging	Het
Mastl	T	C	2: 23,010,941 (GRCm39)	T768A	probably damaging	Het
Mettl16	T	C	11: 74,696,164 (GRCm39)	V335A	probably benign	Het
Mpl	T	C	4: 118,305,897 (GRCm39)		probably null	Het
Myo5c	C	T	9: 75,193,860 (GRCm39)	T1205I	probably benign	Het
Nav2	C	A	7: 49,244,114 (GRCm39)	L2114I	probably damaging	Het
Neb	T	A	2: 52,084,481 (GRCm39)	K5330*	probably null	Het
Nfe2l1	C	T	11: 96,718,161 (GRCm39)	E125K	possibly damaging	Het
Onecut3	A	G	10: 80,331,922 (GRCm39)	K361E	probably damaging	Het
Osbpl6	A	G	2: 76,395,174 (GRCm39)	N370S	possibly damaging	Het
Otud4	T	A	8: 80,399,626 (GRCm39)	M780K	probably benign	Het
P2rx4	A	G	5: 122,865,304 (GRCm39)	T310A	possibly damaging	Het
Pcdha11	G	T	18: 37,146,215 (GRCm39)	D769Y	probably damaging	Het
Pcgf6	C	T	19: 47,037,527 (GRCm39)	R124H	probably benign	Het
Pibf1	T	A	14: 99,374,646 (GRCm39)	Y362N	probably damaging	Het
Ppm1g	T	C	5: 31,360,468 (GRCm39)	E422G	probably benign	Het
Prmt8	T	C	6: 127,709,606 (GRCm39)	I85V	possibly damaging	Het
Prss27	A	T	17: 24,263,988 (GRCm39)	K225*	probably null	Het
Rai1	A	T	11: 60,077,429 (GRCm39)	T498S	probably benign	Het
Sbf2	C	A	7: 110,062,070 (GRCm39)	G23V	probably damaging	Het
Sdha	C	T	13: 74,482,412 (GRCm39)		probably null	Het
Sgo2a	C	T	1: 58,042,092 (GRCm39)	Q140*	probably null	Het
Sh3rf3	A	G	10: 58,819,966 (GRCm39)	D259G	probably damaging	Het
Slc27a3	C	A	3: 90,292,777 (GRCm39)	D631Y	probably damaging	Het
Slc7a10	T	C	7: 34,886,015 (GRCm39)	S37P	possibly damaging	Het
Slco6d1	A	G	1: 98,349,192 (GRCm39)	T88A	probably benign	Het
Smad4	A	T	18: 73,810,817 (GRCm39)	S56T	possibly damaging	Het
Smarcd1	A	G	15: 99,605,766 (GRCm39)	I346V	possibly damaging	Het
Spast	C	T	17: 74,675,835 (GRCm39)	P260S	probably benign	Het
Spata31f1e	C	A	4: 42,792,489 (GRCm39)	G548W	probably damaging	Het
Sprr2i	A	T	3: 92,316,017 (GRCm39)		probably benign	Het
Sptbn5	A	G	2: 119,877,616 (GRCm39)		probably benign	Het
Taar9	A	T	10: 23,985,138 (GRCm39)	Y99N	probably damaging	Het
Trappc10	A	T	10: 78,045,284 (GRCm39)	M468K	possibly damaging	Het
Trim66	T	C	7: 109,059,945 (GRCm39)	R814G	probably benign	Het
Tspan31	A	G	10: 126,904,227 (GRCm39)	C157R	probably damaging	Het
Vmn2r90	A	G	17: 17,953,498 (GRCm39)	D554G	possibly damaging	Het
Vmn2r91	A	T	17: 18,305,527 (GRCm39)	D70V	probably damaging	Het
Wdfy4	C	T	14: 32,830,649 (GRCm39)	G928R	probably damaging	Het
Zfp346	G	T	13: 55,261,517 (GRCm39)	K102N	probably damaging	Het
Zmym4	G	A	4: 126,789,099 (GRCm39)	P1002S	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
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
R8119:Or4f47	UTSW	2	111,972,908 (GRCm39)	missense	probably damaging	1.00
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'- ATTGATACAGGTGTGTCCAGCATC -3'
(R):5'- TGTTGGCAGTGACCAGGAAC -3'

Sequencing Primer
(F):5'- TTATGACCTCTTCAGGAAGCAC -3'
(R):5'- TGACCAGGAACTCCAGTCTGTATG -3'

Posted On

2018-05-24