Mutagenetix > Incidental Mutation

Incidental Mutation 'R8419:Or4k47'

653073

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

067772-MU

Accession Numbers

Essential gene?

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

Stock #

R8419 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111451479-111452417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111451849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 190 (M190K)

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: M190K

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

SMART Domains

Protein: ENSMUSP00000097207
Gene: ENSMUSG00000094858
AA Change: M190K

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: M190K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 48,910,312 (GRCm39)	I707N	probably damaging	Het
Abca14	A	G	7: 119,815,489 (GRCm39)	I246V	probably benign	Het
Adam19	G	A	11: 46,015,850 (GRCm39)	A337T	possibly damaging	Het
Ankrd40	G	T	11: 94,225,662 (GRCm39)	G231V	probably damaging	Het
Arhgap5	G	A	12: 52,565,572 (GRCm39)	V848I	probably damaging	Het
Bmpr2	G	A	1: 59,906,515 (GRCm39)	R536H	probably damaging	Het
Casz1	T	A	4: 149,033,040 (GRCm39)	S1310T	probably benign	Het
Chi3l1	A	T	1: 134,117,280 (GRCm39)	D367V	probably damaging	Het
Cltc	A	G	11: 86,598,392 (GRCm39)	V990A	probably benign	Het
Col6a3	A	T	1: 90,729,935 (GRCm39)	S1790R	probably damaging	Het
Comt	C	T	16: 18,230,637 (GRCm39)	W24*	probably null	Het
Cyp2c70	T	C	19: 40,149,024 (GRCm39)	E374G	possibly damaging	Het
Dach1	T	C	14: 98,406,076 (GRCm39)	T224A	probably damaging	Het
Dapk1	G	A	13: 60,887,911 (GRCm39)	E656K	probably benign	Het
Dicer1	A	G	12: 104,668,936 (GRCm39)	S1249P	probably benign	Het
Dpp8	A	C	9: 64,988,037 (GRCm39)	I861L	probably benign	Het
Enam	C	T	5: 88,651,209 (GRCm39)	S906L	possibly damaging	Het
Eral1	A	T	11: 77,964,906 (GRCm39)	I429N	possibly damaging	Het
Fbxo10	C	A	4: 45,041,809 (GRCm39)	G807C	possibly damaging	Het
Fcgbpl1	G	T	7: 27,843,346 (GRCm39)	G745C	probably damaging	Het
Fsip2	G	C	2: 82,808,963 (GRCm39)	E1761Q	probably damaging	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gm4353	G	A	7: 115,682,784 (GRCm39)	P266S	probably benign	Het
Gpr84	T	C	15: 103,217,963 (GRCm39)	N38S	probably damaging	Het
Guca1a	A	T	17: 47,706,480 (GRCm39)	I115N	probably damaging	Het
Hic1	C	T	11: 75,057,096 (GRCm39)	V598M	possibly damaging	Het
Itga1	A	T	13: 115,143,604 (GRCm39)	I309N	probably damaging	Het
Itga11	T	C	9: 62,662,460 (GRCm39)	S478P	possibly damaging	Het
Kctd8	T	C	5: 69,497,713 (GRCm39)	D311G	probably damaging	Het
Klhl32	T	C	4: 24,682,203 (GRCm39)	E127G	possibly damaging	Het
Lama2	T	A	10: 27,298,559 (GRCm39)	Y179F	probably benign	Het
Lamb2	G	T	9: 108,365,563 (GRCm39)	R1382L	probably benign	Het
Mrpl1	C	G	5: 96,374,226 (GRCm39)	A167G	probably benign	Het
Muc17	A	T	5: 137,175,570 (GRCm39)	N33K		Het
Myt1	A	T	2: 181,424,399 (GRCm39)	R31*	probably null	Het
Nectin2	T	C	7: 19,451,646 (GRCm39)	T463A	probably benign	Het
Nectin2	A	T	7: 19,472,003 (GRCm39)	Y129N	probably damaging	Het
Or12d13	A	G	17: 37,647,466 (GRCm39)	I219T	possibly damaging	Het
Papolb	T	A	5: 142,514,296 (GRCm39)	N449I	possibly damaging	Het
Parn	T	C	16: 13,466,338 (GRCm39)	K236R	probably benign	Het
Pramel22	A	G	4: 143,382,997 (GRCm39)	I74T	probably damaging	Het
Prelid1	G	A	13: 55,470,698 (GRCm39)	R42Q	probably damaging	Het
Prelp	A	G	1: 133,843,020 (GRCm39)	F42L	probably benign	Het
Pygo1	C	T	9: 72,852,380 (GRCm39)	P189L	probably damaging	Het
Rimbp3	T	A	16: 17,030,886 (GRCm39)	S1437T	probably damaging	Het
Slc37a2	T	A	9: 37,148,726 (GRCm39)	D252V	probably benign	Het
Socs7	A	G	11: 97,254,165 (GRCm39)	K233R	probably benign	Het
Spopfm2	T	C	3: 94,082,921 (GRCm39)	I297V	probably benign	Het
Stat4	A	G	1: 52,137,637 (GRCm39)	D476G	possibly damaging	Het
Tesmin	A	G	19: 3,439,077 (GRCm39)	D43G	probably benign	Het
Thap1	C	A	8: 26,648,502 (GRCm39)	Y8*	probably null	Het
Tln1	A	G	4: 43,536,397 (GRCm39)	L1965P	probably damaging	Het
Tmprss11d	A	G	5: 86,457,165 (GRCm39)	S303P	probably damaging	Het
Tomm40	C	T	7: 19,435,759 (GRCm39)	V324M	probably damaging	Het
Vmn1r202	A	T	13: 22,685,985 (GRCm39)	I144K	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
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
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'- ATCATTACCACTGTGATGTGTGC -3'
(R):5'- GGCTTTAATGGCCTATGACCG -3'

Sequencing Primer
(F):5'- CAGTGCATGTGGACAGAGCC -3'
(R):5'- AATGGCCTATGACCGCTATG -3'

Posted On

2020-10-20