Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03143:Or5b119'

410761

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5b119

Ensembl Gene

ENSMUSG00000096708

Gene Name

olfactory receptor family 5 subfamily B member 119

Synonyms

GA_x6K02T2RE5P-3812807-3811863, MOR202-36, Olfr1475

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL03143

Quality Score

Status

Chromosome

Chromosomal Location

13456616-13457560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13456835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 242 (H242Q)

Ref Sequence

ENSEMBL: ENSMUSP00000079616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080801]

AlphaFold

Q8VEV6

Predicted Effect

probably damaging
Transcript: ENSMUST00000080801
AA Change: H242Q

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

SMART Domains

Protein: ENSMUSP00000079616
Gene: ENSMUSG00000096708
AA Change: H242Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	4.2e-52	PFAM
Pfam:7TM_GPCR_Srsx	33	303	4.7e-9	PFAM
Pfam:7tm_1	39	288	1.6e-20	PFAM

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	T	G	9: 121,738,333 (GRCm39)	L236R	probably damaging	Het
Agbl1	C	T	7: 76,069,793 (GRCm39)	Q442*	probably null	Het
Ahrr	G	A	13: 74,405,614 (GRCm39)	Q108*	probably null	Het
Ankrd23	T	C	1: 36,570,726 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,104 (GRCm39)	I225T	probably damaging	Het
Asxl3	T	C	18: 22,656,031 (GRCm39)	V1347A	probably benign	Het
Birc6	A	G	17: 74,905,994 (GRCm39)	M1326V	possibly damaging	Het
Bpifb6	A	C	2: 153,744,655 (GRCm39)	N32T	probably damaging	Het
Brip1	T	A	11: 85,952,653 (GRCm39)	T1043S	possibly damaging	Het
Cbx5	A	T	15: 103,121,532 (GRCm39)	V35E	probably damaging	Het
Ccdc175	T	A	12: 72,182,832 (GRCm39)	M396L	probably benign	Het
Ceacam3	G	T	7: 16,892,045 (GRCm39)	E263*	probably null	Het
Cyp4a12a	A	G	4: 115,159,200 (GRCm39)	T157A	probably benign	Het
Dennd11	A	T	6: 40,399,828 (GRCm39)		probably benign	Het
Derl3	T	C	10: 75,730,324 (GRCm39)	V129A	possibly damaging	Het
Dnajb1	T	C	8: 84,335,103 (GRCm39)	I48T	probably damaging	Het
Dop1b	G	A	16: 93,556,543 (GRCm39)	E349K	probably benign	Het
Fkbp10	A	T	11: 100,313,580 (GRCm39)	I285F	probably benign	Het
Frrs1	A	T	3: 116,692,836 (GRCm39)	T37S	probably damaging	Het
Gata2	A	G	6: 88,181,677 (GRCm39)	Y377C	probably damaging	Het
Gm9789	T	A	16: 88,954,883 (GRCm39)		probably benign	Het
Itpkb	T	A	1: 180,160,933 (GRCm39)	V353D	probably benign	Het
Kcng4	T	C	8: 120,352,509 (GRCm39)	E467G	probably damaging	Het
Kdm3a	A	T	6: 71,573,845 (GRCm39)	I906N	probably damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lamc1	A	T	1: 153,208,020 (GRCm39)	L89Q	probably benign	Het
Lef1	G	T	3: 130,993,965 (GRCm39)	E314*	probably null	Het
Lpin3	T	C	2: 160,745,518 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,218,676 (GRCm39)	N452D	possibly damaging	Het
Naaladl1	C	T	19: 6,164,896 (GRCm39)	T628I	possibly damaging	Het
Nell1	C	T	7: 49,929,281 (GRCm39)	Q259*	probably null	Het
Neu2	G	T	1: 87,524,698 (GRCm39)	E228*	probably null	Het
Or5k15	A	G	16: 58,709,824 (GRCm39)	F253S	probably damaging	Het
Or8g21	T	G	9: 38,906,732 (GRCm39)		probably benign	Het
Or8k20	T	C	2: 86,106,580 (GRCm39)	N84D	probably benign	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Palm	T	C	10: 79,652,617 (GRCm39)		probably benign	Het
Parp8	C	A	13: 117,047,497 (GRCm39)		probably benign	Het
Pax7	A	G	4: 139,556,798 (GRCm39)		probably benign	Het
Pcnx3	G	A	19: 5,735,423 (GRCm39)	R468W	probably damaging	Het
Pds5b	T	A	5: 150,702,722 (GRCm39)	V818D	probably damaging	Het
Piezo2	C	T	18: 63,241,147 (GRCm39)	V694I	probably damaging	Het
Plk1	A	G	7: 121,760,877 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,130,367 (GRCm39)		probably benign	Het
Rad54b	A	G	4: 11,599,755 (GRCm39)	T320A	probably damaging	Het
Reg3b	G	A	6: 78,349,183 (GRCm39)	W103*	probably null	Het
Slc17a3	T	G	13: 24,039,962 (GRCm39)		probably null	Het
Snrnp200	C	T	2: 127,071,962 (GRCm39)		probably benign	Het
Stox2	T	A	8: 47,646,839 (GRCm39)	H207L	possibly damaging	Het
Tbx15	A	C	3: 99,259,514 (GRCm39)	M462L	possibly damaging	Het
Tcirg1	G	A	19: 3,948,811 (GRCm39)	T458I	probably damaging	Het
Tnfrsf25	A	G	4: 152,201,384 (GRCm39)		probably benign	Het
Trank1	A	G	9: 111,195,155 (GRCm39)	K1060E	probably damaging	Het
Ttc16	T	C	2: 32,664,457 (GRCm39)	D3G	possibly damaging	Het
Vmn1r199	A	C	13: 22,567,299 (GRCm39)	N155H	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het

Other mutations in Or5b119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Or5b119	APN	19	13,457,151 (GRCm39)	missense	possibly damaging	0.81
IGL01604:Or5b119	APN	19	13,456,612 (GRCm39)	unclassified	probably benign
IGL01656:Or5b119	APN	19	13,457,454 (GRCm39)	missense	probably benign	0.08
IGL01802:Or5b119	APN	19	13,456,729 (GRCm39)	missense	probably benign	0.05
IGL01839:Or5b119	APN	19	13,456,804 (GRCm39)	missense	probably benign
IGL02255:Or5b119	APN	19	13,457,349 (GRCm39)	missense	probably damaging	1.00
IGL02706:Or5b119	APN	19	13,457,462 (GRCm39)	nonsense	probably null
IGL02723:Or5b119	APN	19	13,456,699 (GRCm39)	missense	probably damaging	1.00
IGL03174:Or5b119	APN	19	13,457,433 (GRCm39)	missense	probably benign	0.10
BB007:Or5b119	UTSW	19	13,457,019 (GRCm39)	missense	probably damaging	0.99
BB017:Or5b119	UTSW	19	13,457,019 (GRCm39)	missense	probably damaging	0.99
R0442:Or5b119	UTSW	19	13,457,412 (GRCm39)	missense	probably damaging	1.00
R0490:Or5b119	UTSW	19	13,456,857 (GRCm39)	missense	probably damaging	0.98
R0491:Or5b119	UTSW	19	13,456,857 (GRCm39)	missense	probably damaging	0.98
R1757:Or5b119	UTSW	19	13,456,971 (GRCm39)	missense	possibly damaging	0.67
R1843:Or5b119	UTSW	19	13,457,295 (GRCm39)	missense	probably benign	0.00
R1972:Or5b119	UTSW	19	13,457,058 (GRCm39)	missense	probably benign	0.00
R2137:Or5b119	UTSW	19	13,457,173 (GRCm39)	missense	probably damaging	1.00
R3150:Or5b119	UTSW	19	13,456,824 (GRCm39)	missense	probably damaging	1.00
R3858:Or5b119	UTSW	19	13,457,494 (GRCm39)	missense	possibly damaging	0.86
R3859:Or5b119	UTSW	19	13,457,494 (GRCm39)	missense	possibly damaging	0.86
R3953:Or5b119	UTSW	19	13,456,806 (GRCm39)	missense	probably benign	0.43
R4611:Or5b119	UTSW	19	13,457,376 (GRCm39)	missense	probably damaging	0.96
R4934:Or5b119	UTSW	19	13,456,956 (GRCm39)	missense	possibly damaging	0.65
R5580:Or5b119	UTSW	19	13,456,791 (GRCm39)	missense	probably damaging	1.00
R6278:Or5b119	UTSW	19	13,457,119 (GRCm39)	missense	probably benign
R6444:Or5b119	UTSW	19	13,456,794 (GRCm39)	missense	possibly damaging	0.95
R6796:Or5b119	UTSW	19	13,457,278 (GRCm39)	missense	probably damaging	1.00
R6812:Or5b119	UTSW	19	13,456,975 (GRCm39)	missense	probably benign	0.03
R7608:Or5b119	UTSW	19	13,456,956 (GRCm39)	missense	possibly damaging	0.65
R7632:Or5b119	UTSW	19	13,456,795 (GRCm39)	missense	possibly damaging	0.79
R7930:Or5b119	UTSW	19	13,457,019 (GRCm39)	missense	probably damaging	0.99
R8008:Or5b119	UTSW	19	13,457,170 (GRCm39)	missense	probably benign	0.01
R8416:Or5b119	UTSW	19	13,456,764 (GRCm39)	missense	possibly damaging	0.95
R8551:Or5b119	UTSW	19	13,457,109 (GRCm39)	missense	possibly damaging	0.88
R9058:Or5b119	UTSW	19	13,456,956 (GRCm39)	missense	possibly damaging	0.65
R9719:Or5b119	UTSW	19	13,457,368 (GRCm39)	missense	probably damaging	1.00
R9756:Or5b119	UTSW	19	13,456,986 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02