Mutagenetix > Incidental Mutation

Incidental Mutation 'R8919:Or10j3b'

679092

Institutional Source

Beutler Lab

Gene Symbol

Or10j3b

Ensembl Gene

ENSMUSG00000049456

Gene Name

olfactory receptor family 10 subfamily J member 3B

Synonyms

GA_x6K02T2R7CC-630397-629456, Olfr1404, MOR267-2

MMRRC Submission

068706-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.483) question?

Stock #

R8919 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173043174-173044207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173044064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 282 (I282T)

Ref Sequence

ENSEMBL: ENSMUSP00000150122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049706] [ENSMUST00000056592] [ENSMUST00000193017] [ENSMUST00000216556] [ENSMUST00000217374]

AlphaFold

Q8VGE1

Predicted Effect

probably benign
Transcript: ENSMUST00000049706

SMART Domains

Protein: ENSMUSP00000056882
Gene: ENSMUSG00000005339

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG	34	108	1.08e-8	SMART
IG	116	193	1.37e-1	SMART
transmembrane domain	200	222	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000056592
AA Change: I282T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050406
Gene: ENSMUSG00000049456
AA Change: I282T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	7.9e-55	PFAM
Pfam:7tm_1	42	291	1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193017

SMART Domains

Protein: ENSMUSP00000141932
Gene: ENSMUSG00000005339

Domain	Start	End	E-Value	Type
IG_like	9	52	4.8e-1	SMART
IG	60	137	5.7e-4	SMART
transmembrane domain	144	166	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000216556
AA Change: I282T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217374
AA Change: I282T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	C	T	8: 60,993,158 (GRCm39)	T373I	possibly damaging	Het
Abca13	T	C	11: 9,241,653 (GRCm39)	L1172P	possibly damaging	Het
Abcg2	A	G	6: 58,661,326 (GRCm39)	Y459C	probably benign	Het
AC125199.3	T	C	16: 88,609,061 (GRCm39)	N4D	possibly damaging	Het
Acad8	A	G	9: 26,910,785 (GRCm39)	M3T	probably benign	Het
Acsbg3	A	C	17: 57,189,218 (GRCm39)	I209L	probably benign	Het
Adcyap1r1	C	T	6: 55,474,080 (GRCm39)	T472I	probably damaging	Het
Ank3	A	T	10: 69,840,671 (GRCm39)	K1890N	possibly damaging	Het
Asic1	G	A	15: 99,569,826 (GRCm39)	C49Y	probably benign	Het
Atp1a1	T	C	3: 101,498,547 (GRCm39)	N215S	probably damaging	Het
C87436	A	G	6: 86,422,774 (GRCm39)	Y116C	probably damaging	Het
Car5a	T	C	8: 122,671,519 (GRCm39)	D5G	probably benign	Het
Ccdc169	T	C	3: 55,058,368 (GRCm39)		probably null	Het
Ccdc93	A	G	1: 121,426,970 (GRCm39)	R586G	probably damaging	Het
Cep295	A	G	9: 15,238,007 (GRCm39)	V131A	probably damaging	Het
Cox5a	A	G	9: 57,436,329 (GRCm39)	D60G	possibly damaging	Het
Cpne6	A	T	14: 55,750,104 (GRCm39)	E78D	probably benign	Het
Cyp2u1	T	C	3: 131,089,114 (GRCm39)	E390G	probably damaging	Het
Dab2	C	A	15: 6,465,271 (GRCm39)	N707K		Het
Dock10	A	T	1: 80,483,147 (GRCm39)	D2101E	probably benign	Het
Duoxa2	G	A	2: 122,132,357 (GRCm39)		probably null	Het
Eif4a3	T	C	11: 119,190,758 (GRCm39)	D22G	probably benign	Het
Fhip1b	T	C	7: 105,037,477 (GRCm39)	T369A	possibly damaging	Het
Fubp3	A	G	2: 31,482,476 (GRCm39)		probably null	Het
Gm10330	A	G	12: 23,829,887 (GRCm39)	L98P	probably benign	Het
Gm5108	A	G	5: 68,134,299 (GRCm39)	*102W	probably null	Het
Gpr149	A	C	3: 62,438,478 (GRCm39)	S560A	probably damaging	Het
Haspin	T	C	11: 73,027,430 (GRCm39)	D553G	probably benign	Het
Hsf1	C	T	15: 76,382,051 (GRCm39)	H104Y	probably benign	Het
Ifi203	T	C	1: 173,756,494 (GRCm39)	T430A	unknown	Het
Itih2	G	A	2: 10,102,822 (GRCm39)	Q771*	probably null	Het
Kazald1	T	A	19: 45,065,395 (GRCm39)	L92Q	probably damaging	Het
Krt19	T	C	11: 100,031,980 (GRCm39)	E324G	probably damaging	Het
Lrrc28	A	T	7: 67,268,833 (GRCm39)	V79E	possibly damaging	Het
Ltn1	T	A	16: 87,178,381 (GRCm39)	Q1616L	probably damaging	Het
Mdc1	A	G	17: 36,158,843 (GRCm39)	K408E	probably benign	Het
Nalcn	A	T	14: 123,561,284 (GRCm39)	M738K	probably benign	Het
Ncoa4	T	C	14: 31,894,848 (GRCm39)	L125P	probably damaging	Het
Ncor2	G	T	5: 125,106,253 (GRCm39)	R810S		Het
Neb	C	T	2: 52,127,141 (GRCm39)	G348D		Het
Nfat5	T	A	8: 108,095,228 (GRCm39)	F1156L	probably damaging	Het
Oit3	G	A	10: 59,277,468 (GRCm39)	T13I	unknown	Het
Opa1	A	C	16: 29,424,340 (GRCm39)	Q230P	probably damaging	Het
Or52k2	T	A	7: 102,253,711 (GRCm39)	I50N	probably damaging	Het
Or5p66	A	G	7: 107,886,289 (GRCm39)	F15L	probably damaging	Het
Or5w12	A	C	2: 87,502,567 (GRCm39)	L48W	probably damaging	Het
Or6c5b	G	T	10: 129,246,082 (GRCm39)	M282I	probably benign	Het
Parpbp	T	C	10: 87,946,189 (GRCm39)	H410R	probably null	Het
Pex5l	A	G	3: 33,007,333 (GRCm39)	V481A	probably damaging	Het
Plekhh3	C	A	11: 101,057,225 (GRCm39)	R344L	probably benign	Het
Prrc2b	T	C	2: 32,104,953 (GRCm39)	V1477A	probably benign	Het
Ptp4a2	G	A	4: 129,738,945 (GRCm39)	G94S	possibly damaging	Het
Ptprk	T	A	10: 28,359,203 (GRCm39)	Y598*	probably null	Het
Rfx5	C	A	3: 94,864,475 (GRCm39)	T207N	probably damaging	Het
Rnase2b	A	G	14: 51,400,347 (GRCm39)	T143A	possibly damaging	Het
Scn1a	A	G	2: 66,168,330 (GRCm39)	V92A	probably benign	Het
Shank2	C	A	7: 143,965,265 (GRCm39)	P958T	probably damaging	Het
Slc13a1	A	G	6: 24,108,194 (GRCm39)	I294T	probably damaging	Het
Slc4a8	A	T	15: 100,712,421 (GRCm39)	E1084D	probably benign	Het
Smurf1	T	A	5: 144,820,422 (GRCm39)	R549*	probably null	Het
Spmip10	T	C	18: 56,725,537 (GRCm39)	F66L	probably damaging	Het
Sprr2b	T	C	3: 92,225,032 (GRCm39)	C93R	unknown	Het
Tcn2	G	T	11: 3,873,569 (GRCm39)	S259Y	probably damaging	Het
Tent4a	G	T	13: 69,651,828 (GRCm39)	T531N	possibly damaging	Het
Tle1	A	G	4: 72,076,525 (GRCm39)	S168P	possibly damaging	Het
Tnfrsf1b	C	T	4: 144,950,150 (GRCm39)	G264D	probably damaging	Het
Tnks2	T	A	19: 36,823,088 (GRCm39)	N118K	probably damaging	Het
Topaz1	G	T	9: 122,626,930 (GRCm39)		probably benign	Het
Traf3ip1	A	G	1: 91,443,796 (GRCm39)		probably benign	Het
Ttk	A	G	9: 83,721,322 (GRCm39)	E69G	probably damaging	Het
Tulp3	T	C	6: 128,310,966 (GRCm39)	D87G	probably benign	Het
Usp38	C	T	8: 81,708,479 (GRCm39)	G1033D	probably damaging	Het
Usp44	T	A	10: 93,693,775 (GRCm39)	N707K	probably benign	Het
Vipas39	T	A	12: 87,305,858 (GRCm39)	R112*	probably null	Het
Vmn1r185	A	C	7: 26,311,206 (GRCm39)	S100A	probably damaging	Het
Vmn1r209	T	C	13: 22,990,223 (GRCm39)	M156V	probably benign	Het
Vmn1r3	G	A	4: 3,184,863 (GRCm39)	T148I	probably benign	Het
Wdr41	G	A	13: 95,151,620 (GRCm39)	R260H	probably benign	Het
Wdr90	G	A	17: 26,076,146 (GRCm39)	R104C		Het
Wnk2	A	T	13: 49,221,711 (GRCm39)	H1183Q	possibly damaging	Het
Zfp667	A	T	7: 6,308,256 (GRCm39)	H308L	possibly damaging	Het
Zfp952	A	G	17: 33,220,628 (GRCm39)	N18D	possibly damaging	Het

Other mutations in Or10j3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Or10j3b	APN	1	173,043,440 (GRCm39)	missense	probably damaging	0.99
IGL01411:Or10j3b	APN	1	173,043,695 (GRCm39)	missense	probably benign	0.01
IGL02533:Or10j3b	APN	1	173,043,628 (GRCm39)	missense	probably damaging	0.99
IGL02559:Or10j3b	APN	1	173,044,088 (GRCm39)	missense	probably damaging	0.98
R0233:Or10j3b	UTSW	1	173,043,868 (GRCm39)	missense	probably benign	0.25
R0233:Or10j3b	UTSW	1	173,043,868 (GRCm39)	missense	probably benign	0.25
R0245:Or10j3b	UTSW	1	173,043,524 (GRCm39)	missense	possibly damaging	0.54
R0652:Or10j3b	UTSW	1	173,043,524 (GRCm39)	missense	possibly damaging	0.54
R1613:Or10j3b	UTSW	1	173,043,434 (GRCm39)	missense	probably benign	0.41
R1939:Or10j3b	UTSW	1	173,043,499 (GRCm39)	missense	probably benign	0.00
R2062:Or10j3b	UTSW	1	173,043,277 (GRCm39)	missense	probably benign	0.00
R2074:Or10j3b	UTSW	1	173,043,377 (GRCm39)	missense	probably damaging	0.98
R6045:Or10j3b	UTSW	1	173,044,067 (GRCm39)	missense	possibly damaging	0.94
R6681:Or10j3b	UTSW	1	173,043,973 (GRCm39)	missense	probably damaging	1.00
R7192:Or10j3b	UTSW	1	173,043,575 (GRCm39)	missense	probably damaging	0.98
R7576:Or10j3b	UTSW	1	173,043,538 (GRCm39)	missense	probably benign	0.01
R9064:Or10j3b	UTSW	1	173,044,060 (GRCm39)	missense	possibly damaging	0.67
R9369:Or10j3b	UTSW	1	173,043,451 (GRCm39)	missense	possibly damaging	0.55
R9615:Or10j3b	UTSW	1	173,044,034 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TACCAATGGGCGTGGTCTTC -3'
(R):5'- GTTCTGGTTTTGCTGATACCATAAG -3'

Sequencing Primer
(F):5'- CAATGGGCGTGGTCTTCATCTC -3'
(R):5'- GTTTTGCTGATACCATAAGATAAGGC -3'

Posted On

2021-08-02