Mutagenetix > Incidental Mutation

Incidental Mutation 'R1972:Or5b119'

221149

Institutional Source

Beutler Lab

Gene Symbol

Or5b119

Ensembl Gene

ENSMUSG00000096708

Gene Name

olfactory receptor family 5 subfamily B member 119

Synonyms

GA_x6K02T2RE5P-3812807-3811863, MOR202-36, Olfr1475

MMRRC Submission

039985-MU

Accession Numbers

Essential gene?

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

Stock #

R1972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13456616-13457560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13457058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 168 (N168S)

Ref Sequence

ENSEMBL: ENSMUSP00000079616 (fasta)

Gene Model

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

AlphaFold

Q8VEV6

Predicted Effect

probably benign
Transcript: ENSMUST00000080801
AA Change: N168S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000079616
Gene: ENSMUSG00000096708
AA Change: N168S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (77/77)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,717,050 (GRCm39)		probably benign	Het
Bbs2	A	G	8: 94,807,805 (GRCm39)		probably benign	Het
Bcl9	A	C	3: 97,114,518 (GRCm39)	D1035E	probably damaging	Het
Bmpr2	A	G	1: 59,852,762 (GRCm39)	E31G	possibly damaging	Het
Borcs5	A	G	6: 134,687,137 (GRCm39)	D164G	probably damaging	Het
Cap2	A	G	13: 46,791,375 (GRCm39)	R181G	probably damaging	Het
Ccdc113	A	T	8: 96,264,874 (GRCm39)	H128L	probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chat	C	T	14: 32,146,148 (GRCm39)	V342I	probably benign	Het
Chrm4	C	T	2: 91,757,838 (GRCm39)	A82V	probably benign	Het
Cyp2d22	A	T	15: 82,260,028 (GRCm39)	M52K	probably benign	Het
Dennd2c	T	C	3: 103,039,014 (GRCm39)	V54A	probably benign	Het
Dgka	C	T	10: 128,556,335 (GRCm39)	G717D	probably damaging	Het
Dnah1	C	T	14: 30,987,348 (GRCm39)	W3550*	probably null	Het
Eif2ak1	A	G	5: 143,821,532 (GRCm39)	T283A	probably benign	Het
Entrep2	A	T	7: 64,425,516 (GRCm39)	I192N	possibly damaging	Het
Fcgbp	A	T	7: 27,793,617 (GRCm39)	Y1173F	probably benign	Het
Flt1	G	A	5: 147,591,903 (GRCm39)		probably benign	Het
Gpr149	T	C	3: 62,438,216 (GRCm39)	K647R	probably benign	Het
Gsdma2	T	C	11: 98,541,744 (GRCm39)	V157A	probably benign	Het
Heatr4	T	A	12: 84,001,794 (GRCm39)	I884F	probably damaging	Het
Ift56	C	A	6: 38,387,738 (GRCm39)	N396K	probably benign	Het
Il17ra	A	G	6: 120,459,177 (GRCm39)	E776G	probably benign	Het
Inpp5d	T	C	1: 87,604,036 (GRCm39)	S235P	probably benign	Het
Iqgap3	T	A	3: 87,991,235 (GRCm39)		probably null	Het
Isoc2a	T	A	7: 4,895,086 (GRCm39)	D171E	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kcnk12	T	C	17: 88,104,560 (GRCm39)	D108G	possibly damaging	Het
Klra9	A	T	6: 130,159,345 (GRCm39)		probably null	Het
Lgmn	A	G	12: 102,362,080 (GRCm39)		probably benign	Het
Morf4l1	A	T	9: 89,977,267 (GRCm39)		probably benign	Het
Mthfr	T	C	4: 148,136,384 (GRCm39)	I380T	probably damaging	Het
Mybpc1	T	C	10: 88,387,404 (GRCm39)	I436V	probably benign	Het
Naip5	A	G	13: 100,349,278 (GRCm39)	V1350A	probably damaging	Het
Neil2	A	T	14: 63,423,526 (GRCm39)	C36S	possibly damaging	Het
Nlrx1	A	G	9: 44,164,753 (GRCm39)	V897A	probably benign	Het
Nod2	A	T	8: 89,379,501 (GRCm39)	M8L	probably damaging	Het
Nop2	A	G	6: 125,111,602 (GRCm39)	T112A	probably benign	Het
Nrap	T	A	19: 56,345,785 (GRCm39)	T608S	probably damaging	Het
Nuak2	A	T	1: 132,258,340 (GRCm39)	H257L	probably damaging	Het
Or10x1	T	C	1: 174,197,136 (GRCm39)	F218L	probably benign	Het
Or2ag12	T	C	7: 106,277,426 (GRCm39)	D89G	probably benign	Het
Or4c113	A	T	2: 88,884,891 (GRCm39)	M293K	probably benign	Het
Or52e8	T	C	7: 104,625,106 (GRCm39)	I33V	possibly damaging	Het
Or5ac25	A	T	16: 59,182,476 (GRCm39)	V35D	probably damaging	Het
Or8b40	T	A	9: 38,027,863 (GRCm39)	M257K	possibly damaging	Het
Pde1a	T	C	2: 79,696,065 (GRCm39)	E358G	probably damaging	Het
Pdlim1	A	T	19: 40,211,581 (GRCm39)	S237R	probably damaging	Het
Pithd1	T	C	4: 135,714,340 (GRCm39)	D36G	probably damaging	Het
Ppp2r3d	A	G	9: 101,088,976 (GRCm39)	F449S	probably benign	Het
Prr11	G	A	11: 86,989,580 (GRCm39)	R264C	possibly damaging	Het
Rbm43	A	T	2: 51,815,548 (GRCm39)	H224Q	probably benign	Het
Rfx5	C	T	3: 94,864,603 (GRCm39)	L250F	probably damaging	Het
Rgs22	T	A	15: 36,103,982 (GRCm39)	I160L	probably benign	Het
Rorb	T	A	19: 18,929,567 (GRCm39)	Q393H	probably damaging	Het
Rpl13a	T	A	7: 44,775,419 (GRCm39)	K368*	probably null	Het
Scaf8	T	G	17: 3,219,646 (GRCm39)	S276R	unknown	Het
Scube2	A	T	7: 109,408,421 (GRCm39)	N675K	probably benign	Het
Sec22c	A	T	9: 121,517,320 (GRCm39)	M126K	possibly damaging	Het
Serpinb11	T	C	1: 107,297,210 (GRCm39)	F29L	probably damaging	Het
Sis	A	G	3: 72,828,337 (GRCm39)	F1217S	probably damaging	Het
Slc18a2	A	G	19: 59,263,085 (GRCm39)	D294G	possibly damaging	Het
Slc9c1	A	G	16: 45,413,835 (GRCm39)	T988A	possibly damaging	Het
Smndc1	A	C	19: 53,371,986 (GRCm39)		probably null	Het
Sned1	G	A	1: 93,192,795 (GRCm39)	G361S	probably damaging	Het
Spatc1	A	T	15: 76,169,075 (GRCm39)		probably null	Het
Stab2	A	T	10: 86,796,180 (GRCm39)	C356S	probably damaging	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tbc1d30	A	T	10: 121,142,135 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,681,626 (GRCm39)	E2668G	probably damaging	Het
Tigar	A	G	6: 127,064,889 (GRCm39)	V253A	possibly damaging	Het
Tmc2	T	A	2: 130,056,584 (GRCm39)		probably benign	Het
Ugt1a10	A	T	1: 87,983,769 (GRCm39)	Y189F	probably damaging	Het
Vmn2r82	A	G	10: 79,214,680 (GRCm39)	D221G	probably damaging	Het
Xkr5	C	T	8: 18,991,997 (GRCm39)	V131M	probably damaging	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
IGL03143:Or5b119	APN	19	13,456,835 (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
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

Predicted Primers

PCR Primer
(F):5'- CTGAACGCATTCTCAGGATAGC -3'
(R):5'- ATGTGCTGCCCAGATGTTC -3'

Sequencing Primer
(F):5'- TCTCAGGATAGCAATGAAAATAAGC -3'
(R):5'- GCTATTGAAAGTTTGATCCTTGCC -3'

Posted On

2014-08-25