Mutagenetix > Incidental Mutation

Incidental Mutation 'R6940:Or51a43'

540499

Institutional Source

Beutler Lab

Gene Symbol

Or51a43

Ensembl Gene

ENSMUSG00000110012

Gene Name

olfactory receptor family 51 subfamily A member 43

Synonyms

Olfr644, MOR13-1, GA_x6K02T2PBJ9-6803062-6802118

MMRRC Submission

045054-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R6940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103717292-103718236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103717620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 206 (I206T)

Ref Sequence

ENSEMBL: ENSMUSP00000149600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077417] [ENSMUST00000138055] [ENSMUST00000213184] [ENSMUST00000213991]

AlphaFold

Q8VH21

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077417
AA Change: I206T

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076633
Gene: ENSMUSG00000110012
AA Change: I206T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	2e-122	PFAM
Pfam:7TM_GPCR_Srsx	37	256	5.9e-8	PFAM
Pfam:7tm_1	43	294	1.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213184
AA Change: I206T

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213991
AA Change: I206T

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	C	A	9: 54,516,381 (GRCm39)	A667S	probably benign	Het
Ank2	G	A	3: 126,735,621 (GRCm39)		probably benign	Het
Arhgef28	A	G	13: 98,102,038 (GRCm39)	L812P	possibly damaging	Het
Armc5	C	T	7: 127,839,470 (GRCm39)	R263*	probably null	Het
Cadps2	A	T	6: 23,302,491 (GRCm39)	V740E	probably damaging	Het
Cckbr	T	C	7: 105,084,103 (GRCm39)	V279A	probably benign	Het
Cd101	T	C	3: 100,911,018 (GRCm39)	D880G	probably damaging	Het
Cep350	A	T	1: 155,804,297 (GRCm39)	S929T	probably benign	Het
Chaf1b	G	A	16: 93,702,853 (GRCm39)	R556H	probably benign	Het
Csn1s1	A	T	5: 87,822,882 (GRCm39)	Q69L	possibly damaging	Het
Dennd1b	T	C	1: 138,981,155 (GRCm39)		probably null	Het
Dnah11	T	C	12: 118,162,503 (GRCm39)	D22G	probably benign	Het
Dnah7a	T	C	1: 53,670,836 (GRCm39)	H472R	probably benign	Het
Dnah7b	G	A	1: 46,158,428 (GRCm39)	R337H	probably benign	Het
Eif2ak3	T	C	6: 70,869,386 (GRCm39)	V691A	possibly damaging	Het
Ern2	T	C	7: 121,785,369 (GRCm39)	R3G	probably benign	Het
Fat3	T	C	9: 15,828,096 (GRCm39)		probably null	Het
Fnbp4	T	C	2: 90,575,858 (GRCm39)	F20L	unknown	Het
Gtf2b	C	A	3: 142,484,016 (GRCm39)	D63E	probably damaging	Het
Hydin	A	G	8: 111,217,243 (GRCm39)	Y1377C	probably damaging	Het
Klf1	A	G	8: 85,628,724 (GRCm39)	T41A	possibly damaging	Het
Lce3d	G	A	3: 92,865,541 (GRCm39)	S52N	unknown	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrfip1	T	A	1: 91,050,135 (GRCm39)		probably null	Het
Ltbp4	A	C	7: 27,008,369 (GRCm39)	V1313G	probably damaging	Het
Morc1	C	A	16: 48,300,208 (GRCm39)	S235*	probably null	Het
Mr1	T	G	1: 155,005,014 (GRCm39)	*342S	probably null	Het
Muc21	C	A	17: 35,934,118 (GRCm39)		probably benign	Het
Nol4l	T	A	2: 153,253,684 (GRCm39)	S630C	probably benign	Het
Nr4a3	C	T	4: 48,051,486 (GRCm39)	P80L	probably benign	Het
Otof	A	G	5: 30,528,987 (GRCm39)	V1807A	probably damaging	Het
Pde5a	T	A	3: 122,572,681 (GRCm39)	V354E	possibly damaging	Het
Pmfbp1	A	T	8: 110,251,823 (GRCm39)	E355D	probably damaging	Het
Ppp2r2c	A	G	5: 37,084,875 (GRCm39)	D112G	probably damaging	Het
Prkacb	A	T	3: 146,457,254 (GRCm39)	I37N	probably damaging	Het
Prox2	T	C	12: 85,141,348 (GRCm39)	D285G	probably benign	Het
Ranbp3l	A	G	15: 9,041,792 (GRCm39)	S61G	probably benign	Het
Rnf214	T	A	9: 45,802,196 (GRCm39)	T289S	probably damaging	Het
Rnf217	G	T	10: 31,381,973 (GRCm39)		probably null	Het
Sc5d	A	T	9: 42,166,723 (GRCm39)	M272K	probably benign	Het
Slco6c1	T	C	1: 97,000,626 (GRCm39)	T542A	possibly damaging	Het
Sord	T	A	2: 122,094,536 (GRCm39)	I308N	probably damaging	Het
Syvn1	A	T	19: 6,101,214 (GRCm39)		probably benign	Het
Tas2r134	A	G	2: 51,518,148 (GRCm39)	H209R	probably benign	Het
Trak1	T	C	9: 121,272,784 (GRCm39)	V214A	possibly damaging	Het
Trpm5	C	A	7: 142,638,547 (GRCm39)	E322*	probably null	Het
Ttf2	T	C	3: 100,876,831 (GRCm39)	T17A	probably damaging	Het
Vmn2r53	T	C	7: 12,316,343 (GRCm39)	E492G	probably benign	Het
Xndc1	T	C	7: 101,727,094 (GRCm39)	V161A	probably benign	Het

Other mutations in Or51a43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01614:Or51a43	APN	7	103,717,576 (GRCm39)	missense	probably benign	0.00
IGL02937:Or51a43	APN	7	103,718,056 (GRCm39)	missense	probably damaging	0.99
IGL03188:Or51a43	APN	7	103,717,945 (GRCm39)	missense	possibly damaging	0.89
FR4737:Or51a43	UTSW	7	103,720,499 (GRCm39)	start gained	probably benign
R0467:Or51a43	UTSW	7	103,717,332 (GRCm39)	missense	probably benign	0.07
R1310:Or51a43	UTSW	7	103,717,805 (GRCm39)	missense	probably benign
R1457:Or51a43	UTSW	7	103,717,666 (GRCm39)	missense	probably damaging	1.00
R1619:Or51a43	UTSW	7	103,717,738 (GRCm39)	missense	probably damaging	1.00
R1874:Or51a43	UTSW	7	103,717,336 (GRCm39)	missense	probably null	1.00
R2428:Or51a43	UTSW	7	103,717,675 (GRCm39)	nonsense	probably null
R2922:Or51a43	UTSW	7	103,717,794 (GRCm39)	missense	probably benign	0.09
R2923:Or51a43	UTSW	7	103,717,794 (GRCm39)	missense	probably benign	0.09
R3929:Or51a43	UTSW	7	103,717,791 (GRCm39)	missense	probably benign	0.06
R4500:Or51a43	UTSW	7	103,717,402 (GRCm39)	missense	probably damaging	1.00
R5035:Or51a43	UTSW	7	103,717,614 (GRCm39)	missense	possibly damaging	0.95
R5303:Or51a43	UTSW	7	103,718,239 (GRCm39)	utr 5 prime	probably benign
R5464:Or51a43	UTSW	7	103,717,674 (GRCm39)	missense	possibly damaging	0.72
R5722:Or51a43	UTSW	7	103,717,930 (GRCm39)	missense	probably damaging	1.00
R5742:Or51a43	UTSW	7	103,717,412 (GRCm39)	missense	probably damaging	0.97
R6874:Or51a43	UTSW	7	103,717,396 (GRCm39)	missense	possibly damaging	0.50
R7848:Or51a43	UTSW	7	103,717,302 (GRCm39)	missense	probably benign
R8343:Or51a43	UTSW	7	103,717,383 (GRCm39)	missense	probably damaging	1.00
R8714:Or51a43	UTSW	7	103,717,483 (GRCm39)	missense	probably damaging	0.97
R8866:Or51a43	UTSW	7	103,718,119 (GRCm39)	missense	probably damaging	0.99
R8909:Or51a43	UTSW	7	103,718,032 (GRCm39)	missense	probably damaging	1.00
R8966:Or51a43	UTSW	7	103,718,139 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATAGCGAGCAAACATGGAC -3'
(R):5'- GCGCTATTCCACAGTACTCAC -3'

Sequencing Primer
(F):5'- GCAAACATGGACACACCTACCTTAG -3'
(R):5'- TACTCACTGATGCCCGAGTGATG -3'

Posted On

2018-11-06