Mutagenetix > Incidental Mutation

Incidental Mutation 'R7193:Or4k47'

559703

Institutional Source

Beutler Lab

Gene Symbol

Or4k47

Ensembl Gene

ENSMUSG00000094858

Gene Name

olfactory receptor family 4 subfamily K member 47

Synonyms

GA_x6K02T2Q125-72673494-72672556, Olfr1297, MOR248-4

MMRRC Submission

045334-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R7193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111451479-111452417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111451600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 273 (V273E)

Ref Sequence

ENSEMBL: ENSMUSP00000150543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099612] [ENSMUST00000213398]

AlphaFold

Q8VGE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000099612
AA Change: V273E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097207
Gene: ENSMUSG00000094858
AA Change: V273E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	4.8e-48	PFAM
Pfam:7tm_1	41	287	6.7e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213398
AA Change: V273E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,265,963 (GRCm39)		probably null	Het
Abca16	T	C	7: 120,026,409 (GRCm39)	S124P	probably damaging	Het
Acan	A	T	7: 78,736,090 (GRCm39)	S179C	probably damaging	Het
Atg2b	A	C	12: 105,630,967 (GRCm39)	H319Q	probably damaging	Het
Bptf	G	A	11: 106,945,635 (GRCm39)	Q2535*	probably null	Het
Brpf3	T	C	17: 29,055,665 (GRCm39)	*1205R	probably null	Het
Cabyr	C	A	18: 12,884,815 (GRCm39)	P434Q	probably damaging	Het
Cacna1g	C	A	11: 94,300,057 (GRCm39)	D2268Y	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cct4	A	G	11: 22,947,111 (GRCm39)	T201A	probably benign	Het
Cdyl2	A	C	8: 117,350,733 (GRCm39)	S133A	probably benign	Het
Cep76	A	G	18: 67,774,204 (GRCm39)	L14P	possibly damaging	Het
Cert1	T	A	13: 96,767,341 (GRCm39)		probably null	Het
Crybg3	A	T	16: 59,379,956 (GRCm39)	S433T	possibly damaging	Het
Cul9	T	C	17: 46,849,423 (GRCm39)	K574R	probably damaging	Het
Cyp2u1	T	C	3: 131,084,792 (GRCm39)	I527V	probably benign	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Eif4a3l1	A	T	6: 136,306,213 (GRCm39)	I225F	probably damaging	Het
F5	A	G	1: 164,046,966 (GRCm39)	N2142S	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Flnc	A	G	6: 29,450,870 (GRCm39)	Y1506C	probably damaging	Het
Foxred2	T	A	15: 77,836,230 (GRCm39)	S376C	probably damaging	Het
Gbe1	T	C	16: 70,292,258 (GRCm39)	L530P	probably damaging	Het
Hmcn1	T	C	1: 150,525,331 (GRCm39)	R3398G	probably null	Het
Igf1r	T	C	7: 67,836,905 (GRCm39)	L587P	probably damaging	Het
Ints15	A	G	5: 143,293,598 (GRCm39)	V293A	probably benign	Het
Kcna3	T	C	3: 106,943,853 (GRCm39)	Y39H	probably benign	Het
Krtap5-2	GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA	GCTACAGCCTCCCTTGCA	7: 141,728,980 (GRCm39)		probably benign	Het
Mbl1	T	C	14: 40,880,669 (GRCm39)	F186L	probably damaging	Het
Ncam2	A	T	16: 81,386,683 (GRCm39)	K687N	probably damaging	Het
Nedd4l	T	C	18: 65,130,441 (GRCm39)	V24A	probably damaging	Het
Nek1	A	G	8: 61,526,612 (GRCm39)	E661G	probably damaging	Het
Nudt14	G	T	12: 112,902,940 (GRCm39)	D28E	probably benign	Het
Or13n4	T	C	7: 106,423,798 (GRCm39)		probably benign	Het
Or1j15	T	A	2: 36,459,248 (GRCm39)	C213S	probably benign	Het
Or2n1	T	A	17: 38,485,987 (GRCm39)	I4N	probably benign	Het
Pdk4	A	T	6: 5,487,089 (GRCm39)	M319K	probably benign	Het
Pfkp	T	C	13: 6,643,252 (GRCm39)	N522S	probably benign	Het
Pias2	T	C	18: 77,207,817 (GRCm39)	V234A	possibly damaging	Het
Pik3c2b	C	A	1: 133,007,512 (GRCm39)	H625Q	probably benign	Het
Pnpla7	T	C	2: 24,941,627 (GRCm39)	S1117P	probably damaging	Het
Prdm2	A	T	4: 142,907,464 (GRCm39)	V36D	probably damaging	Het
Prep	C	T	10: 44,968,795 (GRCm39)	R98C	probably benign	Het
Rae1	T	C	2: 172,850,110 (GRCm39)		probably null	Het
Rgs3	T	A	4: 62,533,573 (GRCm39)	V138E	probably damaging	Het
Rnf185	T	C	11: 3,375,329 (GRCm39)	T142A	possibly damaging	Het
Rsph6a	C	A	7: 18,799,572 (GRCm39)	P401Q	probably damaging	Het
Runx3	A	T	4: 134,848,456 (GRCm39)	T14S	probably benign	Het
Scaf11	A	G	15: 96,317,042 (GRCm39)	S841P	probably damaging	Het
Spta1	T	A	1: 174,012,178 (GRCm39)	L328Q	probably damaging	Het
Sqor	G	A	2: 122,645,929 (GRCm39)	V318M	probably damaging	Het
Stox2	T	C	8: 47,639,489 (GRCm39)	T902A	probably benign	Het
Susd3	T	C	13: 49,384,679 (GRCm39)	H248R	probably damaging	Het
Syne1	T	C	10: 5,183,406 (GRCm39)	Y4133C	probably damaging	Het
Tbc1d20	C	T	2: 152,153,337 (GRCm39)	T289M	probably benign	Het
Unc80	T	A	1: 66,588,943 (GRCm39)	F1036Y	possibly damaging	Het
Zbtb7c	T	C	18: 76,271,009 (GRCm39)	C366R	probably damaging	Het
Zeb1	A	T	18: 5,772,756 (GRCm39)	D1015V	probably damaging	Het
Zfp606	T	G	7: 12,227,966 (GRCm39)	S696A	probably benign	Het

Other mutations in Or4k47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Or4k47	APN	2	111,451,685 (GRCm39)	missense	probably damaging	1.00
IGL01305:Or4k47	APN	2	111,451,546 (GRCm39)	missense	probably damaging	1.00
IGL01903:Or4k47	APN	2	111,452,003 (GRCm39)	missense	probably benign	0.01
IGL01984:Or4k47	APN	2	111,451,927 (GRCm39)	missense	probably benign	0.34
IGL03065:Or4k47	APN	2	111,451,535 (GRCm39)	missense	probably damaging	0.98
ANU22:Or4k47	UTSW	2	111,451,546 (GRCm39)	missense	probably damaging	1.00
R0313:Or4k47	UTSW	2	111,451,945 (GRCm39)	missense	possibly damaging	0.77
R0615:Or4k47	UTSW	2	111,452,264 (GRCm39)	missense	possibly damaging	0.95
R1028:Or4k47	UTSW	2	111,451,870 (GRCm39)	missense	probably damaging	1.00
R1078:Or4k47	UTSW	2	111,451,690 (GRCm39)	missense	probably damaging	1.00
R1158:Or4k47	UTSW	2	111,452,086 (GRCm39)	missense	probably damaging	1.00
R1419:Or4k47	UTSW	2	111,451,640 (GRCm39)	missense	probably benign	0.05
R1980:Or4k47	UTSW	2	111,451,586 (GRCm39)	missense	probably benign	0.00
R1981:Or4k47	UTSW	2	111,451,586 (GRCm39)	missense	probably benign	0.00
R2044:Or4k47	UTSW	2	111,452,159 (GRCm39)	missense	probably benign	0.02
R2080:Or4k47	UTSW	2	111,452,084 (GRCm39)	missense	probably benign
R2170:Or4k47	UTSW	2	111,451,945 (GRCm39)	missense	possibly damaging	0.77
R4494:Or4k47	UTSW	2	111,451,493 (GRCm39)	nonsense	probably null
R4965:Or4k47	UTSW	2	111,451,879 (GRCm39)	missense	probably damaging	1.00
R5175:Or4k47	UTSW	2	111,451,771 (GRCm39)	missense	possibly damaging	0.78
R5891:Or4k47	UTSW	2	111,451,778 (GRCm39)	missense	probably damaging	1.00
R6192:Or4k47	UTSW	2	111,451,520 (GRCm39)	missense	possibly damaging	0.91
R6383:Or4k47	UTSW	2	111,451,531 (GRCm39)	missense	probably benign	0.10
R6730:Or4k47	UTSW	2	111,452,080 (GRCm39)	missense	probably damaging	0.96
R7189:Or4k47	UTSW	2	111,451,538 (GRCm39)	missense	probably benign	0.03
R7199:Or4k47	UTSW	2	111,451,538 (GRCm39)	missense	probably benign	0.01
R7735:Or4k47	UTSW	2	111,451,819 (GRCm39)	missense	probably damaging	1.00
R8017:Or4k47	UTSW	2	111,452,412 (GRCm39)	missense	probably benign	0.00
R8019:Or4k47	UTSW	2	111,452,412 (GRCm39)	missense	probably benign	0.00
R8285:Or4k47	UTSW	2	111,452,390 (GRCm39)	missense	probably benign	0.32
R8419:Or4k47	UTSW	2	111,451,849 (GRCm39)	missense	probably benign	0.10
R9258:Or4k47	UTSW	2	111,452,329 (GRCm39)	missense	possibly damaging	0.77
X0063:Or4k47	UTSW	2	111,451,726 (GRCm39)	missense	probably benign	0.04
Z1176:Or4k47	UTSW	2	111,451,606 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTCACAATGACCTGATAGCTC -3'
(R):5'- AAGCTAGCCTGCATGGATTCC -3'

Sequencing Primer
(F):5'- GCTCATCAGTAAATGCCATATTTTC -3'
(R):5'- GCATGGATTCCCAGGATTTAAATAC -3'

Posted On

2019-06-26