Mutagenetix > Incidental Mutation

Incidental Mutation 'R6847:Or5b118'

534834

Institutional Source

Beutler Lab

Gene Symbol

Or5b118

Ensembl Gene

ENSMUSG00000096273

Gene Name

olfactory receptor family 5 subfamily B member 118

Synonyms

Olfr1474, MOR202-26P, GA_x6K02T2RE5P-3803583-3804527, MOR202-42

MMRRC Submission

045021-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13448336-13449280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13448402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 23 (I23F)

Ref Sequence

ENSEMBL: ENSMUSP00000151810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096202] [ENSMUST00000207529] [ENSMUST00000220113]

AlphaFold

Q7TQQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000096202
AA Change: I23F

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000093916
Gene: ENSMUSG00000096273
AA Change: I23F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.6e-52	PFAM
Pfam:7TM_GPCR_Srsx	33	303	1e-7	PFAM
Pfam:7tm_1	39	288	8.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207529

Predicted Effect

probably benign
Transcript: ENSMUST00000220113
AA Change: I23F

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (50/50)

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

none

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,021,465 (GRCm39)	I675T	probably benign	Het
Adgrb3	A	T	1: 25,133,003 (GRCm39)	M1121K	probably benign	Het
Ak9	A	G	10: 41,233,797 (GRCm39)		probably null	Het
Akr1c6	T	A	13: 4,488,497 (GRCm39)	C34*	probably null	Het
Akt3	G	A	1: 176,859,225 (GRCm39)	P449S	probably damaging	Het
Atg2b	A	T	12: 105,602,047 (GRCm39)	V1643E	probably damaging	Het
Atp2c1	T	C	9: 105,295,778 (GRCm39)	I819V	probably damaging	Het
Casp3	C	T	8: 47,089,301 (GRCm39)	A183V	probably benign	Het
Cdk1	A	T	10: 69,174,358 (GRCm39)	D288E	probably benign	Het
Cep131	G	A	11: 119,956,517 (GRCm39)	R944W	probably damaging	Het
Cep290	A	G	10: 100,399,281 (GRCm39)	K2268E	probably damaging	Het
Crybg2	A	G	4: 133,792,857 (GRCm39)	E164G	probably benign	Het
Cubn	A	C	2: 13,449,064 (GRCm39)		probably null	Het
Dnajc14	A	T	10: 128,652,656 (GRCm39)	E571D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eef1b2	A	G	1: 63,217,648 (GRCm39)	E44G	probably benign	Het
Eml6	C	T	11: 29,768,447 (GRCm39)	V747I	probably benign	Het
Ext1	T	G	15: 53,208,550 (GRCm39)	Q70H	probably benign	Het
Gbp2b	T	A	3: 142,303,940 (GRCm39)	C12S	probably damaging	Het
Gbp8	A	C	5: 105,179,093 (GRCm39)	D135E	probably benign	Het
Gm12886	A	T	4: 121,273,916 (GRCm39)	L100*	probably null	Het
Gpatch1	A	T	7: 34,992,983 (GRCm39)		probably null	Het
Ifit3b	A	T	19: 34,588,925 (GRCm39)	M34L	probably benign	Het
Il12a	G	T	3: 68,602,899 (GRCm39)	D160Y	probably damaging	Het
Klhl2	A	G	8: 65,212,816 (GRCm39)	L241P	probably damaging	Het
Krt80	T	C	15: 101,256,610 (GRCm39)	E195G	probably benign	Het
Lgi1	T	C	19: 38,289,738 (GRCm39)	V268A	probably damaging	Het
Lrrfip1	A	T	1: 91,032,850 (GRCm39)	D216V	probably damaging	Het
Meis3	A	G	7: 15,917,789 (GRCm39)	N314S	probably damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myh15	A	T	16: 48,965,451 (GRCm39)	I1119F	possibly damaging	Het
Nav2	A	T	7: 49,141,204 (GRCm39)	Q916H	probably benign	Het
Ncam2	A	T	16: 81,229,606 (GRCm39)	Q22L	probably damaging	Het
P2rx4	G	A	5: 122,865,814 (GRCm39)	V329M	probably damaging	Het
Peg10	A	G	6: 4,754,279 (GRCm39)		probably benign	Het
Pgp	T	C	17: 24,690,375 (GRCm39)	L267P	probably damaging	Het
Pou2af2	G	A	9: 51,201,504 (GRCm39)	T184M	probably damaging	Het
Prdm2	A	C	4: 142,859,520 (GRCm39)	S1257A	probably benign	Het
Prr12	T	C	7: 44,695,164 (GRCm39)	N1434S	unknown	Het
Psmc3ip	A	T	11: 100,985,999 (GRCm39)	H40Q	probably damaging	Het
Ptprc	A	T	1: 138,016,283 (GRCm39)	N526K	probably damaging	Het
Sec63	T	A	10: 42,667,249 (GRCm39)	D138E	probably damaging	Het
Serpinb13	A	G	1: 106,926,663 (GRCm39)	N220D	probably benign	Het
Siva1	G	A	12: 112,611,344 (GRCm39)		probably benign	Het
Slc39a12	A	G	2: 14,454,728 (GRCm39)	H546R	probably damaging	Het
Slc7a1	G	A	5: 148,271,468 (GRCm39)	A497V	probably benign	Het
Smg5	G	T	3: 88,249,859 (GRCm39)	K95N	probably damaging	Het
Speer1a	G	A	5: 11,394,134 (GRCm39)	V78M	probably damaging	Het
Traj50	T	A	14: 54,405,101 (GRCm39)		probably benign	Het
Ubr3	T	C	2: 69,813,472 (GRCm39)	V1261A	probably damaging	Het
Zc3h11a	A	T	1: 133,566,700 (GRCm39)		probably null	Het

Other mutations in Or5b118

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03256:Or5b118	APN	19	13,448,631 (GRCm39)	missense	probably damaging	0.99
D605:Or5b118	UTSW	19	13,448,521 (GRCm39)	nonsense	probably null
R0173:Or5b118	UTSW	19	13,449,065 (GRCm39)	missense	probably benign	0.02
R1102:Or5b118	UTSW	19	13,448,771 (GRCm39)	missense	probably damaging	0.97
R1515:Or5b118	UTSW	19	13,449,044 (GRCm39)	missense	probably damaging	0.97
R1780:Or5b118	UTSW	19	13,448,726 (GRCm39)	missense	probably benign	0.14
R2061:Or5b118	UTSW	19	13,448,605 (GRCm39)	missense	probably damaging	0.98
R4016:Or5b118	UTSW	19	13,448,561 (GRCm39)	missense	possibly damaging	0.95
R4485:Or5b118	UTSW	19	13,448,919 (GRCm39)	missense	probably benign	0.08
R5119:Or5b118	UTSW	19	13,448,910 (GRCm39)	missense	probably benign	0.00
R5150:Or5b118	UTSW	19	13,448,794 (GRCm39)	missense	probably benign	0.01
R5156:Or5b118	UTSW	19	13,449,037 (GRCm39)	missense	probably damaging	1.00
R5699:Or5b118	UTSW	19	13,448,336 (GRCm39)	start codon destroyed	probably null	0.78
R5800:Or5b118	UTSW	19	13,449,260 (GRCm39)	missense	probably benign	0.06
R5840:Or5b118	UTSW	19	13,449,242 (GRCm39)	missense	probably benign	0.01
R5953:Or5b118	UTSW	19	13,448,732 (GRCm39)	missense	possibly damaging	0.92
R5997:Or5b118	UTSW	19	13,448,870 (GRCm39)	missense	probably benign	0.12
R6233:Or5b118	UTSW	19	13,449,104 (GRCm39)	missense	probably damaging	1.00
R6488:Or5b118	UTSW	19	13,448,981 (GRCm39)	missense	probably damaging	1.00
R6964:Or5b118	UTSW	19	13,448,725 (GRCm39)	nonsense	probably null
R7214:Or5b118	UTSW	19	13,448,337 (GRCm39)	start codon destroyed	probably null	1.00
R8001:Or5b118	UTSW	19	13,448,786 (GRCm39)	missense	probably benign	0.03
R8035:Or5b118	UTSW	19	13,449,263 (GRCm39)	missense	probably benign
R8129:Or5b118	UTSW	19	13,448,508 (GRCm39)	missense	probably damaging	1.00
R9018:Or5b118	UTSW	19	13,448,721 (GRCm39)	missense	possibly damaging	0.60
R9061:Or5b118	UTSW	19	13,448,523 (GRCm39)	missense	probably damaging	0.98
R9065:Or5b118	UTSW	19	13,448,670 (GRCm39)	missense	probably damaging	0.97
R9373:Or5b118	UTSW	19	13,449,216 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACCCCTGGTATCATATATTCTG -3'
(R):5'- AACCCTTCTATCACCTTGGGG -3'

Sequencing Primer
(F):5'- ACATGTGTATCACTTCCTTATGAGC -3'
(R):5'- CCTTGGGGGTGATTGCTGAG -3'

Posted On

2018-09-12