Mutagenetix > Incidental Mutation

Incidental Mutation 'R5473:Or10j3'

433904

Institutional Source

Beutler Lab

Gene Symbol

Or10j3

Ensembl Gene

ENSMUSG00000046643

Gene Name

olfactory receptor family 10 subfamily J member 3B

Synonyms

Olfr1405-ps1, GA_x6K02T2R7CC-643715-642847, Olfr218, GA_x6K02SYWG4P-534-1100, MOR267-3, MOR267-3

MMRRC Submission

043034-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R5473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173030925-173031866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 173031732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 270 (G270R)

Ref Sequence

ENSEMBL: ENSMUSP00000150815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057548] [ENSMUST00000215844] [ENSMUST00000216603]

AlphaFold

E9PWV2

Predicted Effect

probably benign
Transcript: ENSMUST00000057548
AA Change: G270R

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000053317
Gene: ENSMUSG00000046643
AA Change: G270R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	3.4e-58	PFAM
Pfam:7tm_1	42	291	2.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215844
AA Change: G270R

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000216603
AA Change: G270R

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.2198

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (66/66)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	C	7: 119,312,173 (GRCm39)	Y549H	probably damaging	Het
Adamtsl4	G	T	3: 95,587,303 (GRCm39)	Q758K	probably damaging	Het
Anapc1	G	T	2: 128,449,115 (GRCm39)		probably benign	Het
Ankrd26	A	T	6: 118,492,797 (GRCm39)	C1316S	probably benign	Het
Birc5	T	C	11: 117,743,533 (GRCm39)	V89A	possibly damaging	Het
Camk2d	G	T	3: 126,391,048 (GRCm39)		probably benign	Het
Ccdc47	A	T	11: 106,095,855 (GRCm39)	S280R	probably damaging	Het
Cntnap5a	T	A	1: 116,016,986 (GRCm39)	F193Y	probably benign	Het
Cntrob	G	T	11: 69,213,579 (GRCm39)	D70E	possibly damaging	Het
Col24a1	A	C	3: 145,243,016 (GRCm39)	M1519L	probably benign	Het
Col2a1	G	T	15: 97,885,370 (GRCm39)	A491D	unknown	Het
Crat	A	G	2: 30,297,726 (GRCm39)	L266P	probably damaging	Het
Dlgap1	A	T	17: 70,824,025 (GRCm39)		probably benign	Het
Dnaaf10	T	C	11: 17,174,591 (GRCm39)	V153A	probably damaging	Het
Eya4	T	A	10: 23,039,351 (GRCm39)	H104L	probably benign	Het
Fam83b	T	C	9: 76,398,782 (GRCm39)	K774E	probably damaging	Het
Fgd6	T	C	10: 93,880,538 (GRCm39)	I464T	probably benign	Het
Gorasp2	A	C	2: 70,508,950 (GRCm39)	M123L	probably damaging	Het
H2-M10.3	A	T	17: 36,678,261 (GRCm39)	V188E	probably damaging	Het
Hnrnpk	A	T	13: 58,541,913 (GRCm39)	W333R	probably damaging	Het
Hrh4	T	C	18: 13,154,985 (GRCm39)	Y175H	probably benign	Het
Igf2r	G	T	17: 12,914,201 (GRCm39)	T1756K	probably benign	Het
Kcnq5	A	G	1: 21,527,626 (GRCm39)		probably null	Het
Kiz	G	T	2: 146,811,915 (GRCm39)	E675*	probably null	Het
Mcm3ap	T	G	10: 76,338,593 (GRCm39)	L1407R	probably damaging	Het
Mdc1	A	G	17: 36,158,952 (GRCm39)	D444G	probably benign	Het
Myl3	C	A	9: 110,597,026 (GRCm39)	H129N	probably damaging	Het
Neo1	T	C	9: 58,788,126 (GRCm39)	N1309S	possibly damaging	Het
Nrxn1	A	T	17: 90,897,520 (GRCm39)	Y269N	probably damaging	Het
Nsd1	A	G	13: 55,395,585 (GRCm39)	N1165S	probably damaging	Het
Nuf2	T	C	1: 169,334,856 (GRCm39)	D302G	probably benign	Het
Olfr908	A	G	9: 38,427,508 (GRCm39)	Y60C	probably damaging	Het
Or14j1	T	C	17: 38,146,630 (GRCm39)	F247L	probably benign	Het
Or5d38	A	T	2: 87,954,981 (GRCm39)	M116K	possibly damaging	Het
Oxsm	A	T	14: 16,242,045 (GRCm38)	S241R	probably damaging	Het
Pde1a	G	T	2: 79,736,372 (GRCm39)	S87R	probably damaging	Het
Plagl2	A	T	2: 153,074,114 (GRCm39)	C262*	probably null	Het
Plcg2	A	G	8: 118,361,140 (GRCm39)	K1233R	probably benign	Het
Pon3	A	T	6: 5,256,177 (GRCm39)	I17K	possibly damaging	Het
Ppfia1	A	T	7: 144,045,229 (GRCm39)	M951K	probably benign	Het
Pramel12	A	G	4: 143,145,874 (GRCm39)	R448G	probably damaging	Het
Prpf31	A	G	7: 3,642,824 (GRCm39)	K438E	probably benign	Het
Pum3	C	A	19: 27,396,248 (GRCm39)	V328F	probably damaging	Het
Ralgapa1	T	C	12: 55,723,495 (GRCm39)	E1677G	probably benign	Het
Rpf2	A	G	10: 40,103,627 (GRCm39)	V96A	possibly damaging	Het
Rsrc2	C	T	5: 123,869,150 (GRCm39)	A98T	probably damaging	Het
Saraf	G	A	8: 34,628,412 (GRCm39)	R86Q	probably damaging	Het
Scara5	T	A	14: 65,977,788 (GRCm39)	D349E	possibly damaging	Het
Slc30a1	T	C	1: 191,641,734 (GRCm39)	V460A	possibly damaging	Het
Tdrd7	G	T	4: 46,020,877 (GRCm39)	V768L	possibly damaging	Het
Tshz2	T	C	2: 169,725,718 (GRCm39)	S105P	probably benign	Het
Ufsp2	A	G	8: 46,445,258 (GRCm39)	I362M	probably damaging	Het
Ugt1a7c	T	A	1: 88,023,159 (GRCm39)	I106K	probably benign	Het
Zdhhc5	A	G	2: 84,520,810 (GRCm39)	Y456H	probably damaging	Het

Other mutations in Or10j3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03404:Or10j3	APN	1	173,031,766 (GRCm39)	missense	probably benign	0.08
R0265:Or10j3	UTSW	1	173,031,484 (GRCm39)	missense	probably benign	0.10
R1388:Or10j3	UTSW	1	173,031,445 (GRCm39)	missense	probably benign	0.01
R1463:Or10j3	UTSW	1	173,030,934 (GRCm39)	missense	probably benign
R1547:Or10j3	UTSW	1	173,031,239 (GRCm39)	nonsense	probably null
R1698:Or10j3	UTSW	1	173,030,938 (GRCm39)	missense	probably damaging	1.00
R1892:Or10j3	UTSW	1	173,031,795 (GRCm39)	missense	probably damaging	1.00
R4773:Or10j3	UTSW	1	173,031,796 (GRCm39)	missense	probably damaging	1.00
R4939:Or10j3	UTSW	1	173,031,030 (GRCm39)	missense	possibly damaging	0.95
R6149:Or10j3	UTSW	1	173,031,582 (GRCm39)	missense	probably benign	0.15
R6582:Or10j3	UTSW	1	173,031,847 (GRCm39)	missense	probably benign	0.00
R7151:Or10j3	UTSW	1	173,031,633 (GRCm39)	missense	probably damaging	1.00
R8120:Or10j3	UTSW	1	173,031,502 (GRCm39)	missense	probably benign	0.31
R8510:Or10j3	UTSW	1	173,031,411 (GRCm39)	missense	probably damaging	0.96
R8967:Or10j3	UTSW	1	173,031,039 (GRCm39)	missense	probably benign	0.14
R9238:Or10j3	UTSW	1	173,031,352 (GRCm39)	missense	probably benign	0.01
R9292:Or10j3	UTSW	1	173,031,099 (GRCm39)	missense	probably damaging	1.00
R9358:Or10j3	UTSW	1	173,031,741 (GRCm39)	missense	probably damaging	1.00
R9517:Or10j3	UTSW	1	173,031,346 (GRCm39)	missense	possibly damaging	0.80
R9624:Or10j3	UTSW	1	173,031,672 (GRCm39)	missense	probably benign	0.30
Z1176:Or10j3	UTSW	1	173,031,364 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACTGGCCTGCACAGATACC -3'
(R):5'- CACTTGCATGCATATAAAGGCAC -3'

Sequencing Primer
(F):5'- ATCAACTTTATTGTCAGCGTGTG -3'
(R):5'- GCATGCATATAAAGGCACTAAAATG -3'

Posted On

2016-10-06