Mutagenetix > Incidental Mutation

Incidental Mutation 'R6681:Or10j3b'

527478

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

044800-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.505) question?

Stock #

R6681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173043174-173044207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 173043973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 252 (H252N)

Ref Sequence

ENSEMBL: ENSMUSP00000151077 (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: H252N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050406
Gene: ENSMUSG00000049456
AA Change: H252N

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: H252N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217374
AA Change: H252N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

98% (45/46)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 121,915,447 (GRCm39)	T971S	probably damaging	Het
Catsperb	C	T	12: 101,590,994 (GRCm39)	Q1021*	probably null	Het
Ccdc62	A	G	5: 124,072,156 (GRCm39)	T62A	probably benign	Het
Cuzd1	A	G	7: 130,913,412 (GRCm39)	S402P	probably damaging	Het
Dcun1d1	C	T	3: 35,949,819 (GRCm39)	V244M	probably damaging	Het
Dennd2c	A	G	3: 103,038,977 (GRCm39)	T42A	probably benign	Het
Dnah7a	T	C	1: 53,560,385 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dpp4	A	T	2: 62,178,893 (GRCm39)	F607L	probably benign	Het
Ech1	C	T	7: 28,529,763 (GRCm39)		probably null	Het
Fam53a	A	G	5: 33,765,184 (GRCm39)	L174P	probably damaging	Het
Fh1	T	C	1: 175,446,690 (GRCm39)	D62G	probably null	Het
Gpatch11	T	C	17: 79,147,528 (GRCm39)	I103T	probably damaging	Het
Hmgcll1	A	T	9: 75,988,731 (GRCm39)	T169S	probably benign	Het
Kbtbd3	A	T	9: 4,330,687 (GRCm39)	I354F	probably benign	Het
Kdm5b	T	C	1: 134,541,007 (GRCm39)	F700L	possibly damaging	Het
Mamdc4	C	A	2: 25,457,756 (GRCm39)	G439V	probably damaging	Het
Mrps30	A	T	13: 118,517,134 (GRCm39)	S362T	probably damaging	Het
Mug1	C	T	6: 121,815,683 (GRCm39)	S29L	possibly damaging	Het
Myh2	G	A	11: 67,069,174 (GRCm39)	D328N	probably damaging	Het
Or5b98	A	G	19: 12,931,823 (GRCm39)	Y290C	probably damaging	Het
Or5j1	T	C	2: 86,878,942 (GRCm39)	T213A	probably benign	Het
Or8g54	T	A	9: 39,706,710 (GRCm39)	I13N	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pira13	T	A	7: 3,825,251 (GRCm39)	M464L	probably benign	Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Rest	A	G	5: 77,428,844 (GRCm39)	K421R	probably damaging	Het
Rttn	C	A	18: 89,032,735 (GRCm39)	H668N	probably damaging	Het
Scn9a	T	C	2: 66,393,686 (GRCm39)	I228V	possibly damaging	Het
Scp2	G	T	4: 107,948,513 (GRCm39)	Q155K	probably damaging	Het
Sec61a2	G	A	2: 5,881,219 (GRCm39)	R18*	probably null	Het
Serpinb8	T	A	1: 107,525,321 (GRCm39)	M41K	probably damaging	Het
Sgsm2	A	T	11: 74,756,204 (GRCm39)	W382R	probably damaging	Het
Slc26a10	G	T	10: 127,009,530 (GRCm39)	T606N	possibly damaging	Het
Slc30a6	T	C	17: 74,711,027 (GRCm39)	I40T	possibly damaging	Het
Slfn5	G	A	11: 82,847,204 (GRCm39)	E30K	possibly damaging	Het
Sorcs2	C	A	5: 36,555,154 (GRCm39)	R79L	probably benign	Het
Tmc5	G	A	7: 118,268,527 (GRCm39)	S865N	probably damaging	Het
Tmprss11c	T	A	5: 86,437,119 (GRCm39)	M1L	possibly damaging	Het
Trpv5	C	G	6: 41,630,288 (GRCm39)	E601Q	probably damaging	Het
Ttc39b	A	T	4: 83,158,285 (GRCm39)		probably benign	Het
Ttll6	T	A	11: 96,029,689 (GRCm39)	C201S	probably damaging	Het
Vezt	A	G	10: 93,832,859 (GRCm39)	V204A	probably benign	Het
Vmn1r45	T	A	6: 89,910,985 (GRCm39)		probably benign	Het
Zfp433	A	T	10: 81,556,722 (GRCm39)	H408L	probably damaging	Het
Zfp865	T	C	7: 5,032,450 (GRCm39)	I145T	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
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
R8919:Or10j3b	UTSW	1	173,044,064 (GRCm39)	missense	probably damaging	0.97
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'- TCTTCTGTGATGTGAGACCCC -3'
(R):5'- CCTAATTAAGATGAAAGTGGCTTCTGC -3'

Sequencing Primer
(F):5'- TGATGTGAGACCCCTGCTGAAG -3'
(R):5'- CCACATGGCTCTGCGTAG -3'

Posted On

2018-07-23