Mutagenetix > Incidental Mutation

Incidental Mutation 'R9065:Or5b118'

689242

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

068890-MU

Accession Numbers

Essential gene?

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

Stock #

R9065 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13448336-13449280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13448670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 70 (I70N)

Ref Sequence

ENSEMBL: ENSMUSP00000147143 (fasta)

Gene Model

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

AlphaFold

Q7TQQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000096202
AA Change: I112N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093916
Gene: ENSMUSG00000096273
AA Change: I112N

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 damaging
Transcript: ENSMUST00000207529
AA Change: I70N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220113
AA Change: I112N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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

none

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,323,084 (GRCm39)	N1472S	probably benign	Het
4930447C04Rik	C	A	12: 72,939,604 (GRCm39)	Q435H	possibly damaging	Het
Aass	G	T	6: 23,075,746 (GRCm39)	A797E	probably benign	Het
Ap3b1	T	A	13: 94,608,223 (GRCm39)	Y565N	probably damaging	Het
Arid2	A	G	15: 96,269,372 (GRCm39)	T1162A	probably benign	Het
Atp11b	T	C	3: 35,887,131 (GRCm39)		probably null	Het
Card11	G	A	5: 140,894,297 (GRCm39)	P111S	probably damaging	Het
Ccdc66	T	A	14: 27,213,850 (GRCm39)	E328D	probably damaging	Het
Cldn8	T	A	16: 88,359,902 (GRCm39)	M8L	probably benign	Het
Cnot9	T	A	1: 74,558,142 (GRCm39)	L96*	probably null	Het
Cntnap5c	T	A	17: 58,445,642 (GRCm39)	C561S	probably damaging	Het
Dnah5	A	G	15: 28,293,936 (GRCm39)	D1347G	probably benign	Het
Epb41	A	G	4: 131,682,888 (GRCm39)	V390A		Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Eps15l1	G	T	8: 73,145,762 (GRCm39)	S157*	probably null	Het
Ercc6l2	A	G	13: 63,967,866 (GRCm39)	I155M	possibly damaging	Het
Esco1	G	T	18: 10,594,005 (GRCm39)	T427K	probably benign	Het
Fignl1	C	T	11: 11,752,692 (GRCm39)	C121Y	possibly damaging	Het
Flrt2	A	G	12: 95,746,177 (GRCm39)	S172G	probably damaging	Het
Frmd3	A	T	4: 74,063,269 (GRCm39)		probably null	Het
Fuz	C	T	7: 44,546,721 (GRCm39)	R119W	probably damaging	Het
Gtf2ird2	T	G	5: 134,225,407 (GRCm39)	I165S	probably damaging	Het
Itih1	T	A	14: 30,657,833 (GRCm39)	I417F	probably damaging	Het
Jarid2	G	T	13: 44,994,326 (GRCm39)	V13L		Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lpp	T	A	16: 24,580,889 (GRCm39)	W327R	probably benign	Het
Msrb2	T	A	2: 19,383,041 (GRCm39)	F56I	possibly damaging	Het
Muc16	A	G	9: 18,554,305 (GRCm39)	I3996T	unknown	Het
Myh4	C	A	11: 67,139,573 (GRCm39)	A630E	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Oacyl	T	A	18: 65,840,484 (GRCm39)	F85Y	probably damaging	Het
Or5ac24	C	T	16: 59,165,530 (GRCm39)	C178Y	probably damaging	Het
Or6c69b	T	A	10: 129,626,727 (GRCm39)	I244F	possibly damaging	Het
Pcdha11	A	C	18: 37,139,877 (GRCm39)	E502A	possibly damaging	Het
Pcnx3	T	C	19: 5,717,582 (GRCm39)	E1509G	possibly damaging	Het
Pfkm	A	T	15: 98,021,680 (GRCm39)	S314C	probably damaging	Het
Plch1	T	C	3: 63,674,924 (GRCm39)	H230R	probably damaging	Het
Ppfia4	A	T	1: 134,251,893 (GRCm39)	V427E	possibly damaging	Het
Ppox	TCTTATACCTGGAC	TC	1: 171,105,447 (GRCm39)		probably benign	Het
Prr11	G	A	11: 86,992,249 (GRCm39)	P209S	probably damaging	Het
Prrc2b	C	A	2: 32,109,304 (GRCm39)	Q1690K	probably damaging	Het
Rgs3	A	T	4: 62,620,465 (GRCm39)	M564L	probably benign	Het
Sec24d	T	C	3: 123,149,452 (GRCm39)	Y820H	probably damaging	Het
Six4	A	C	12: 73,159,498 (GRCm39)	I154S	possibly damaging	Het
Spata31e4	A	T	13: 50,856,276 (GRCm39)	H638L	probably benign	Het
Spock3	A	G	8: 63,801,989 (GRCm39)	K323E	probably damaging	Het
Stmn4	A	T	14: 66,596,126 (GRCm39)		probably null	Het
Tafa2	A	G	10: 123,429,421 (GRCm39)	K12E	probably benign	Het
Tanc2	C	T	11: 105,689,518 (GRCm39)	R227*	probably null	Het
Tcp1	T	A	17: 13,139,210 (GRCm39)	V179D	probably damaging	Het
Trmt5	A	T	12: 73,328,038 (GRCm39)	F388L	probably damaging	Het
Tsc2	G	T	17: 24,822,164 (GRCm39)	P1126H	probably benign	Het
Ttn	T	A	2: 76,612,720 (GRCm39)	I17120F	probably damaging	Het
Ttn	T	G	2: 76,778,270 (GRCm39)	K1372N	unknown	Het
U2surp	T	C	9: 95,359,563 (GRCm39)	T652A	probably benign	Het
Utp20	A	G	10: 88,592,972 (GRCm39)	V2239A	probably benign	Het
Vps33b	A	G	7: 79,935,339 (GRCm39)	T356A	probably damaging	Het
Vwf	C	A	6: 125,623,262 (GRCm39)	H1786Q		Het
Wwox	A	G	8: 115,215,682 (GRCm39)	I152V	probably benign	Het
Ythdc2	A	G	18: 44,977,418 (GRCm39)	T405A	probably benign	Het
Zfpm2	A	T	15: 40,962,712 (GRCm39)	I257F	possibly 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
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
R9373:Or5b118	UTSW	19	13,449,216 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATACTGATTCTGCTGGACTCCC -3'
(R):5'- TGTGTGGGTGTCAGAACAAG -3'

Sequencing Primer
(F):5'- GATTCTGCTGGACTCCCGACTC -3'
(R):5'- TCTAGCAGTGGGGGAATGTCAC -3'

Posted On

2021-11-19