Mutagenetix > Incidental Mutation

Incidental Mutation 'R8035:Or5b118'

618210

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

067472-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13448336-13449280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13449263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 310 (F310L)

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: F310L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093916
Gene: ENSMUSG00000096273
AA Change: F310L

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: F310L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,530,243 (GRCm39)	V938A	probably damaging	Het
Acot7	A	G	4: 152,337,611 (GRCm39)	T254A	possibly damaging	Het
Ankle2	C	T	5: 110,402,318 (GRCm39)	R943C	probably damaging	Het
Arrdc2	T	C	8: 71,292,026 (GRCm39)	K7R	probably benign	Het
Arsi	T	A	18: 61,049,442 (GRCm39)	H108Q	probably damaging	Het
Asap3	T	C	4: 135,968,514 (GRCm39)	Y689H	probably benign	Het
Bnip3	G	A	7: 138,493,666 (GRCm39)	T181I	probably damaging	Het
C87436	T	C	6: 86,424,337 (GRCm39)	S290P	probably benign	Het
Ccdc168	A	G	1: 44,100,711 (GRCm39)	V129A	possibly damaging	Het
Ccdc6	A	G	10: 69,933,331 (GRCm39)	I68V	probably benign	Het
Ccr3	T	C	9: 123,829,012 (GRCm39)	F116L	probably benign	Het
Cdh9	G	T	15: 16,831,152 (GRCm39)	V330F	probably damaging	Het
Cdkn1a	T	C	17: 29,318,350 (GRCm39)	C155R	possibly damaging	Het
Ctr9	C	T	7: 110,633,664 (GRCm39)	A165V	probably damaging	Het
Cyp2b19	G	A	7: 26,470,675 (GRCm39)	G439R	probably damaging	Het
Fam161b	A	T	12: 84,395,430 (GRCm39)	D504E	probably damaging	Het
Fdps	G	T	3: 89,002,783 (GRCm39)	P122T	probably benign	Het
Fmn2	T	C	1: 174,547,437 (GRCm39)	Y1454H	probably damaging	Het
Gipc2	T	C	3: 151,799,866 (GRCm39)	E288G	probably damaging	Het
Gm21411	A	C	4: 146,982,167 (GRCm39)		probably null	Het
Hnrnpc	C	T	14: 52,321,719 (GRCm39)	D32N	possibly damaging	Het
Hspa12b	T	A	2: 130,982,859 (GRCm39)	I239N	probably damaging	Het
Hspb8	T	C	5: 116,553,485 (GRCm39)	N138D	probably damaging	Het
Igkv4-69	T	C	6: 69,260,921 (GRCm39)	I69V	possibly damaging	Het
Itih1	A	C	14: 30,664,482 (GRCm39)	D81E	probably benign	Het
Kdm3b	T	C	18: 34,941,781 (GRCm39)	L624S	probably damaging	Het
Klk6	A	G	7: 43,478,086 (GRCm39)	M153V	probably benign	Het
Lgals9	A	T	11: 78,854,302 (GRCm39)	Y327*	probably null	Het
Lims1	T	A	10: 58,246,263 (GRCm39)		probably benign	Het
Lrp1b	T	A	2: 40,750,667 (GRCm39)	I3080F		Het
Mars2	C	T	1: 55,277,456 (GRCm39)	T353I	possibly damaging	Het
Matn4	T	C	2: 164,238,960 (GRCm39)	N307S	probably damaging	Het
Mettl17	C	T	14: 52,128,947 (GRCm39)	H406Y	probably damaging	Het
Mtor	T	A	4: 148,630,856 (GRCm39)	M2271K	probably benign	Het
Mtrex	T	C	13: 113,035,336 (GRCm39)	E539G	probably benign	Het
Myt1	T	C	2: 181,437,532 (GRCm39)	L81P	probably damaging	Het
Or56a3b	T	A	7: 104,770,757 (GRCm39)	L31H	probably damaging	Het
Or6k4	A	T	1: 173,964,490 (GRCm39)	Y60F	probably damaging	Het
Or8b38	C	T	9: 37,972,961 (GRCm39)	T115I	probably damaging	Het
Pbrm1	A	G	14: 30,806,109 (GRCm39)	K1030R	probably damaging	Het
Rap1gds1	A	T	3: 138,721,311 (GRCm39)	D119E	probably damaging	Het
Rgs9	A	G	11: 109,164,150 (GRCm39)	I151T	probably benign	Het
Slc26a7	A	C	4: 14,621,338 (GRCm39)	M16R	possibly damaging	Het
Slx4ip	T	G	2: 136,885,945 (GRCm39)	Y88*	probably null	Het
Sppl2c	T	A	11: 104,078,192 (GRCm39)	W331R	probably benign	Het
Srcap	T	C	7: 127,141,784 (GRCm39)	S1855P	probably benign	Het
Svs5	A	G	2: 164,079,053 (GRCm39)	F285L	probably benign	Het
Tjp1	G	T	7: 64,992,450 (GRCm39)	A76E	probably benign	Het
Trip13	G	C	13: 74,061,373 (GRCm39)	A430G	probably benign	Het
Trpm6	A	G	19: 18,770,226 (GRCm39)	E337G	probably damaging	Het
Tut7	A	T	13: 59,937,004 (GRCm39)	N1214K	probably benign	Het
Vmn1r37	T	A	6: 66,708,377 (GRCm39)	M1K	probably null	Het
Wdr72	T	G	9: 74,086,783 (GRCm39)		probably benign	Het
Zfp583	T	C	7: 6,319,771 (GRCm39)	K414E	probably damaging	Het
Zfp940	A	C	7: 29,544,948 (GRCm39)	S320A	probably benign	Het
Zfp979	A	C	4: 147,697,763 (GRCm39)	C315W	probably damaging	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
R6847:Or5b118	UTSW	19	13,448,402 (GRCm39)	missense	probably benign	0.03
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
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'- AAGGCCTTCTCTACCTGTGC -3'
(R):5'- TGCTTGGGAATTTTGAGCTCTATAATC -3'

Sequencing Primer
(F):5'- GTGCATCTCATCTCATCACTGTG -3'
(R):5'- CATGGCAAAATATACACCAATTTCAC -3'

Posted On

2020-01-23