Mutagenetix > Incidental Mutation

Incidental Mutation 'R6192:Or4k47'

502620

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

044332-MU

Accession Numbers

Essential gene?

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

Stock #

R6192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111451479-111452417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111451520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 300 (R300G)

Ref Sequence

ENSEMBL: ENSMUSP00000150543 (fasta)

Gene Model

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

AlphaFold

Q8VGE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099612
AA Change: R300G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097207
Gene: ENSMUSG00000094858
AA Change: R300G

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

possibly damaging
Transcript: ENSMUST00000213398
AA Change: R300G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,774,002 (GRCm39)	E1137G	probably damaging	Het
Adcy9	T	C	16: 4,105,818 (GRCm39)	I1099V	probably benign	Het
Angptl4	A	T	17: 33,996,015 (GRCm39)	N320K	probably benign	Het
Atp6v0a2	G	A	5: 124,767,268 (GRCm39)	M10I	probably benign	Het
Bltp1	C	T	3: 37,042,318 (GRCm39)	T2768I	probably benign	Het
Cbfa2t3	A	G	8: 123,361,135 (GRCm39)	S395P	probably benign	Het
Cenpe	C	T	3: 134,954,291 (GRCm39)	T1716I	possibly damaging	Het
Chsy1	T	C	7: 65,820,625 (GRCm39)	Y287H	probably benign	Het
Col4a4	G	T	1: 82,462,151 (GRCm39)	P1075T	probably damaging	Het
Cryab	T	A	9: 50,665,813 (GRCm39)	M68K	probably damaging	Het
Cybrd1	T	A	2: 70,967,858 (GRCm39)	L143Q	probably null	Het
Dcaf7	T	C	11: 105,942,584 (GRCm39)	V177A	probably damaging	Het
Dclk2	T	C	3: 86,722,457 (GRCm39)	Y392C	probably damaging	Het
Ddx20	T	C	3: 105,586,036 (GRCm39)	T770A	probably benign	Het
Dennd1b	T	A	1: 139,095,456 (GRCm39)	D501E	probably benign	Het
Dgkh	A	T	14: 78,865,504 (GRCm39)	Y26*	probably null	Het
Dnajc2	A	G	5: 21,973,646 (GRCm39)	V196A	probably damaging	Het
Etl4	A	G	2: 20,806,362 (GRCm39)	K827E	probably damaging	Het
Fam8a1	C	T	13: 46,823,099 (GRCm39)	P13L	probably damaging	Het
Gfra3	T	C	18: 34,837,582 (GRCm39)	S139G	possibly damaging	Het
Ggnbp1	G	A	17: 27,248,847 (GRCm39)	V139I	possibly damaging	Het
Gja1	T	A	10: 56,264,330 (GRCm39)	Y230N	probably damaging	Het
Gldc	A	G	19: 30,111,172 (GRCm39)	S535P	probably damaging	Het
Gm45871	A	G	18: 90,610,357 (GRCm39)	T532A	probably benign	Het
Gm5431	T	A	11: 48,785,220 (GRCm39)	D107V	probably benign	Het
Herc2	C	T	7: 55,857,510 (GRCm39)	T4031M	probably damaging	Het
Iffo2	G	A	4: 139,333,769 (GRCm39)	A282T	probably damaging	Het
Ifi44	T	G	3: 151,451,276 (GRCm39)		probably null	Het
Igkv4-53	C	T	6: 69,625,915 (GRCm39)	R62H	possibly damaging	Het
Lrp11	A	C	10: 7,474,454 (GRCm39)		probably null	Het
Lrp4	A	G	2: 91,338,833 (GRCm39)	T1755A	probably benign	Het
Mcm3ap	A	T	10: 76,336,934 (GRCm39)	K1316M	probably damaging	Het
Mctp1	T	G	13: 76,971,082 (GRCm39)		probably null	Het
Mroh5	A	T	15: 73,662,630 (GRCm39)	I396N	probably damaging	Het
Mrps5	T	A	2: 127,443,305 (GRCm39)	H294Q	probably damaging	Het
Muc16	A	T	9: 18,569,985 (GRCm39)	S845T	unknown	Het
Mycbpap	A	T	11: 94,398,557 (GRCm39)	V474E	probably damaging	Het
Mzt2	G	C	16: 15,666,551 (GRCm39)	S122W	probably benign	Het
Neb	T	C	2: 52,146,802 (GRCm39)	I2821V	probably benign	Het
Ngef	A	T	1: 87,415,622 (GRCm39)	D347E	probably damaging	Het
Nlrp14	T	C	7: 106,781,646 (GRCm39)	V281A	probably benign	Het
Obscn	A	T	11: 58,888,864 (GRCm39)	Y7597N	unknown	Het
Patj	G	T	4: 98,344,394 (GRCm39)	G569W	probably damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Phf2	T	A	13: 48,973,583 (GRCm39)	T361S	unknown	Het
Pik3r6	A	G	11: 68,434,455 (GRCm39)	E552G	probably damaging	Het
Pitx2	A	G	3: 129,009,521 (GRCm39)	T147A	probably benign	Het
Pkmyt1	G	A	17: 23,953,167 (GRCm39)	G241D	probably damaging	Het
Pola2	A	T	19: 6,003,802 (GRCm39)	V191D	possibly damaging	Het
Ralgapb	T	A	2: 158,291,367 (GRCm39)		probably null	Het
Rapgef4	T	C	2: 71,811,661 (GRCm39)	S11P	probably benign	Het
Rnf10	G	A	5: 115,395,136 (GRCm39)	R151C	probably damaging	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sbno2	A	T	10: 79,895,850 (GRCm39)	L977Q	probably damaging	Het
Sec14l3	G	A	11: 4,025,566 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,600,612 (GRCm39)	N243K	possibly damaging	Het
Slco2b1	T	A	7: 99,334,779 (GRCm39)	I231F	probably damaging	Het
Spag8	A	G	4: 43,652,458 (GRCm39)	F294S	probably damaging	Het
Speer4f1	G	A	5: 17,684,493 (GRCm39)	A174T	probably damaging	Het
Spred3	T	C	7: 28,862,402 (GRCm39)	D147G	probably benign	Het
Stard9	A	G	2: 120,527,241 (GRCm39)	D1166G	probably damaging	Het
Svep1	G	T	4: 58,104,536 (GRCm39)	T1229K	possibly damaging	Het
Tanc1	T	A	2: 59,669,305 (GRCm39)		probably null	Het
Tmem232	T	C	17: 65,737,800 (GRCm39)	Y420C	probably damaging	Het
Tubd1	A	T	11: 86,448,619 (GRCm39)	M311L	probably benign	Het
Tulp3	G	A	6: 128,332,703 (GRCm39)		probably null	Het
Usp42	T	C	5: 143,702,942 (GRCm39)	T560A	possibly damaging	Het
Vmn1r170	A	T	7: 23,305,934 (GRCm39)	Y112F	probably damaging	Het
Vmn2r4	A	T	3: 64,322,699 (GRCm39)	C7S	probably benign	Het
Wrn	A	G	8: 33,774,682 (GRCm39)	M652T	probably benign	Het
Wsb1	G	A	11: 79,139,336 (GRCm39)	P120L	possibly damaging	Het
Zfp142	T	C	1: 74,609,667 (GRCm39)	E1376G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		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
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
R7193:Or4k47	UTSW	2	111,451,600 (GRCm39)	missense	probably damaging	1.00
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'- TCACAATGACCTGATAGCTCATC -3'
(R):5'- TCTGTCCACATGCACTGCAC -3'

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

Posted On

2018-02-27