Mutagenetix > Incidental Mutation

Incidental Mutation 'R6383:Or4k47'

515411

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

044532-MU

Accession Numbers

Essential gene?

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

Stock #

R6383 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111451479-111452417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111451531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 296 (N296I)

Ref Sequence

ENSEMBL: ENSMUSP00000150543 (fasta)

Gene Model

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

AlphaFold

Q8VGE8

Predicted Effect

probably benign
Transcript: ENSMUST00000099612
AA Change: N296I

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097207
Gene: ENSMUSG00000094858
AA Change: N296I

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 benign
Transcript: ENSMUST00000213398
AA Change: N296I

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (73/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,286,343 (GRCm39)	M2497K	probably benign	Het
Abtb2	C	T	2: 103,397,721 (GRCm39)	T217I	probably damaging	Het
Adam29	T	A	8: 56,324,543 (GRCm39)	N637I	probably damaging	Het
Adgb	T	A	10: 10,325,772 (GRCm39)	E59V	probably damaging	Het
Adh7	C	T	3: 137,933,778 (GRCm39)	R312C	probably benign	Het
Adprh	A	G	16: 38,267,814 (GRCm39)	I157T	probably damaging	Het
Ap2b1	T	C	11: 83,237,651 (GRCm39)	S572P	probably damaging	Het
Asic1	T	C	15: 99,596,761 (GRCm39)	L519P	probably damaging	Het
Atp2a2	G	C	5: 122,639,712 (GRCm39)	L13V	probably benign	Het
Bst2	A	T	8: 71,989,932 (GRCm39)	I47N	possibly damaging	Het
Cacng6	G	A	7: 3,473,509 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,957,289 (GRCm39)	E1849G	probably damaging	Het
Cep295	T	A	9: 15,244,050 (GRCm39)	T213S	probably damaging	Het
Chia1	A	G	3: 106,039,127 (GRCm39)	T406A	probably benign	Het
Chmp4c	G	T	3: 10,432,277 (GRCm39)	K62N	probably damaging	Het
Cldn15	A	G	5: 136,996,979 (GRCm39)	T7A	probably benign	Het
Cmpk2	T	A	12: 26,528,019 (GRCm39)	M412K	probably benign	Het
Cnnm1	T	C	19: 43,453,705 (GRCm39)		probably null	Het
Cubn	A	C	2: 13,432,646 (GRCm39)		probably null	Het
Dop1b	T	C	16: 93,579,136 (GRCm39)	V1668A	possibly damaging	Het
Erg28	T	A	12: 85,863,203 (GRCm39)	Y77F	probably damaging	Het
F830045P16Rik	C	T	2: 129,378,358 (GRCm39)	A9T	probably benign	Het
Gli3	A	G	13: 15,898,140 (GRCm39)	D740G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Gpr179	A	G	11: 97,227,973 (GRCm39)	V1394A	possibly damaging	Het
Grn	T	A	11: 102,327,621 (GRCm39)		probably benign	Het
H2-Q6	G	A	17: 35,647,359 (GRCm39)		probably null	Het
Igsf3	A	G	3: 101,342,964 (GRCm39)	T514A	probably benign	Het
Il1r1	A	G	1: 40,352,495 (GRCm39)	D558G	possibly damaging	Het
Irx4	T	C	13: 73,415,832 (GRCm39)	M207T	possibly damaging	Het
Kap	T	C	6: 133,828,920 (GRCm39)	I54V	probably benign	Het
Kdm2b	G	A	5: 123,072,841 (GRCm39)	R340C	probably damaging	Het
Lipo3	T	A	19: 33,533,831 (GRCm39)	M334L	probably benign	Het
Lmbrd1	C	T	1: 24,745,115 (GRCm39)	L152F	probably damaging	Het
Ltbp1	G	A	17: 75,666,452 (GRCm39)	V1382I	probably damaging	Het
Map3k4	C	T	17: 12,468,470 (GRCm39)	D1008N	possibly damaging	Het
Mcf2l	T	C	8: 12,929,912 (GRCm39)		probably benign	Het
Mecom	T	G	3: 30,051,875 (GRCm39)	D180A	probably damaging	Het
Meis1	T	C	11: 18,891,741 (GRCm39)	D269G	probably benign	Het
Myh7	A	C	14: 55,226,351 (GRCm39)	S430A	probably benign	Het
Myo1h	A	G	5: 114,474,325 (GRCm39)	I439V	probably damaging	Het
Nat1	T	C	8: 67,944,134 (GRCm39)	V170A	possibly damaging	Het
Nlrp12	A	G	7: 3,282,673 (GRCm39)	L742P	probably damaging	Het
Nlrp4c	A	G	7: 6,069,052 (GRCm39)	T318A	probably benign	Het
Or4d10	T	A	19: 12,051,727 (GRCm39)	I90F	probably damaging	Het
Or51ai2	A	G	7: 103,587,030 (GRCm39)	I148V	probably benign	Het
Or8g33	G	T	9: 39,337,530 (GRCm39)	T279N	probably damaging	Het
Or8g35	A	T	9: 39,381,926 (GRCm39)	L32Q	probably damaging	Het
Otop3	A	G	11: 115,235,898 (GRCm39)	E529G	probably damaging	Het
Parp6	T	C	9: 59,531,222 (GRCm39)	Y35H	probably damaging	Het
Pcdhb4	A	C	18: 37,441,074 (GRCm39)	D128A	probably damaging	Het
Phldb2	C	T	16: 45,569,113 (GRCm39)	D1249N	probably damaging	Het
Pramel30	A	T	4: 144,059,717 (GRCm39)	*476L	probably null	Het
Ptpn12	T	A	5: 21,192,466 (GRCm39)	K765*	probably null	Het
Ptprb	T	A	10: 116,182,912 (GRCm39)	Y1529*	probably null	Het
Ptprc	A	T	1: 138,006,189 (GRCm39)	Y798N	possibly damaging	Het
Sdk2	G	A	11: 113,723,091 (GRCm39)	T1300I	probably damaging	Het
Slc28a2b	T	C	2: 122,355,288 (GRCm39)	I555T	probably benign	Het
Sptbn2	G	A	19: 4,782,524 (GRCm39)	V487I	possibly damaging	Het
Sptbn5	A	G	2: 119,876,750 (GRCm39)		probably benign	Het
Srpk1	A	G	17: 28,809,036 (GRCm39)	S648P	probably damaging	Het
Stard9	T	C	2: 120,496,888 (GRCm39)		probably null	Het
Tmem135	A	T	7: 88,793,878 (GRCm39)	I388N	probably damaging	Het
Top3a	A	T	11: 60,640,285 (GRCm39)	I446N	probably benign	Het
Trpv1	T	C	11: 73,136,862 (GRCm39)	S482P	probably damaging	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn2r15	A	C	5: 109,441,092 (GRCm39)	Y255*	probably null	Het
Vmn2r60	A	G	7: 41,765,895 (GRCm39)	M1V	probably null	Het
Vmn2r87	A	G	10: 130,314,869 (GRCm39)	V239A	probably damaging	Het
Vwce	T	A	19: 10,636,956 (GRCm39)	C679*	probably null	Het
Zfp385b	C	T	2: 77,246,185 (GRCm39)	A281T	probably benign	Het
Zfp398	T	G	6: 47,843,529 (GRCm39)	L395W	probably damaging	Het
Zfp442	C	T	2: 150,293,321 (GRCm39)		probably null	Het
Zfp606	A	G	7: 12,226,871 (GRCm39)	S331G	probably benign	Het
Zfp882	A	G	8: 72,668,484 (GRCm39)	H437R	probably damaging	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
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'- TGTCCACATGCACTGCACAC -3'

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

Posted On

2018-05-04