Mutagenetix > Incidental Mutation

Incidental Mutation 'R8534:Or5b102'

659182

Institutional Source

Beutler Lab

Gene Symbol

Or5b102

Ensembl Gene

ENSMUSG00000094986

Gene Name

olfactory receptor family 5 subfamily B member 102

Synonyms

MOR202-14, GA_x6K02T2RE5P-3390804-3391727, Olfr1454

MMRRC Submission

068503-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R8534 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13040777-13041700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13041432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 219 (I219N)

Ref Sequence

ENSEMBL: ENSMUSP00000148859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073732] [ENSMUST00000213806] [ENSMUST00000214695] [ENSMUST00000217568]

AlphaFold

Q8VFW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000073732
AA Change: I219N

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

SMART Domains

Protein: ENSMUSP00000073409
Gene: ENSMUSG00000094986
AA Change: I219N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.1e-50	PFAM
Pfam:7tm_1	39	288	2.7e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213806
AA Change: I219N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214695
AA Change: I219N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217568
AA Change: I219N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (57/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	C	2: 19,545,153 (GRCm39)	L100R	probably damaging	Het
6820408C15Rik	A	G	2: 152,283,182 (GRCm39)	D282G	probably damaging	Het
Abcb11	G	T	2: 69,154,190 (GRCm39)	N125K	possibly damaging	Het
Acbd7	A	T	2: 3,341,750 (GRCm39)	D71V	probably damaging	Het
Adgrb1	A	T	15: 74,415,357 (GRCm39)	T646S	probably damaging	Het
Adgrv1	A	G	13: 81,534,887 (GRCm39)	Y5793H	probably benign	Het
Agmo	A	G	12: 37,302,538 (GRCm39)	D125G	probably damaging	Het
Ahrr	A	G	13: 74,368,799 (GRCm39)	S125P	probably damaging	Het
B020011L13Rik	C	A	1: 117,729,034 (GRCm39)	H180Q	probably benign	Het
Cbfa2t3	T	C	8: 123,365,653 (GRCm39)	D219G	probably damaging	Het
Ccdc187	A	G	2: 26,165,577 (GRCm39)	S860P	possibly damaging	Het
Ceacam5	A	T	7: 17,484,671 (GRCm39)	Q471L	probably benign	Het
Cyp2c54	A	C	19: 40,036,030 (GRCm39)	D293E	probably damaging	Het
Dnah1	G	T	14: 31,023,805 (GRCm39)	N962K	probably benign	Het
Dst	C	T	1: 34,229,388 (GRCm39)	T2002I	probably benign	Het
Elavl1	A	T	8: 4,339,864 (GRCm39)	N239K	probably benign	Het
Elmod3	A	G	6: 72,543,667 (GRCm39)	F375L	probably benign	Het
G6pc2	T	A	2: 69,050,469 (GRCm39)	N31K	probably benign	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gm6569	G	T	15: 73,711,673 (GRCm39)		probably benign	Het
Insig1	C	T	5: 28,280,116 (GRCm39)	S236L	probably damaging	Het
Itih4	A	T	14: 30,622,979 (GRCm39)	N882I	probably benign	Het
Kmt5a	C	A	5: 124,598,635 (GRCm39)	D309E	probably benign	Het
Kndc1	C	A	7: 139,503,669 (GRCm39)	T991N	probably benign	Het
Lingo1	T	A	9: 56,528,353 (GRCm39)	T79S	probably benign	Het
Myh4	A	T	11: 67,134,335 (GRCm39)	E330V	probably benign	Het
Nlrx1	A	G	9: 44,174,070 (GRCm39)	V377A	probably benign	Het
Npy5r	C	A	8: 67,134,688 (GRCm39)	G35V	probably benign	Het
Or7g33	C	T	9: 19,448,605 (GRCm39)	G207D	possibly damaging	Het
Pabpn1l	T	C	8: 123,349,358 (GRCm39)	T20A	probably benign	Het
Pcf11	A	G	7: 92,302,432 (GRCm39)	V1226A	probably benign	Het
Per2	G	A	1: 91,351,659 (GRCm39)	T949M	probably benign	Het
Phc1	G	A	6: 122,315,539 (GRCm39)		probably benign	Het
Pias2	A	G	18: 77,185,083 (GRCm39)	I55V	possibly damaging	Het
Pik3r2	A	T	8: 71,227,312 (GRCm39)	S104T	probably benign	Het
Pip	T	C	6: 41,828,421 (GRCm39)	V85A	probably benign	Het
Pms2	T	C	5: 143,860,445 (GRCm39)	V86A	probably benign	Het
Potefam1	G	A	2: 111,058,380 (GRCm39)	P138S	possibly damaging	Het
Rab44	A	G	17: 29,363,547 (GRCm39)		probably null	Het
Rrbp1	A	G	2: 143,830,095 (GRCm39)	S691P	probably damaging	Het
Ruvbl2	A	T	7: 45,079,118 (GRCm39)		probably null	Het
Setbp1	T	C	18: 78,826,542 (GRCm39)	D1357G	possibly damaging	Het
Slc12a6	T	A	2: 112,174,312 (GRCm39)	I476N	probably damaging	Het
Slc1a1	C	T	19: 28,882,746 (GRCm39)	P337S	probably damaging	Het
Slc35b3	T	A	13: 39,128,566 (GRCm39)	T174S	probably benign	Het
Slc4a4	A	T	5: 89,283,581 (GRCm39)	I467F	probably damaging	Het
Slc50a1	G	A	3: 89,177,710 (GRCm39)		probably null	Het
Spink14	G	A	18: 44,164,079 (GRCm39)		probably null	Het
Spmap2l	T	A	5: 77,207,325 (GRCm39)	I361N	probably damaging	Het
Tmem59	T	C	4: 107,043,082 (GRCm39)		probably null	Het
Tnr	G	A	1: 159,746,585 (GRCm39)	E1235K	probably benign	Het
Trpm6	A	T	19: 18,869,459 (GRCm39)	R2015S	probably benign	Het
Tsnaxip1	A	G	8: 106,565,370 (GRCm39)	E132G	probably damaging	Het
Vps54	A	G	11: 21,227,706 (GRCm39)	N93S	probably benign	Het
Wdr17	T	G	8: 55,101,265 (GRCm39)	I994L	probably benign	Het
Zfat	G	T	15: 68,037,696 (GRCm39)	H926Q	probably damaging	Het
Zfp2	C	T	11: 50,791,627 (GRCm39)	E139K	possibly damaging	Het

Other mutations in Or5b102

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Or5b102	APN	19	13,041,513 (GRCm39)	missense	probably damaging	1.00
IGL02942:Or5b102	APN	19	13,041,552 (GRCm39)	missense	probably benign	0.45
IGL03331:Or5b102	APN	19	13,041,231 (GRCm39)	missense	probably damaging	1.00
R0551:Or5b102	UTSW	19	13,041,658 (GRCm39)	missense	probably benign	0.01
R0738:Or5b102	UTSW	19	13,041,102 (GRCm39)	missense	probably damaging	1.00
R1532:Or5b102	UTSW	19	13,041,639 (GRCm39)	missense	probably damaging	1.00
R2072:Or5b102	UTSW	19	13,041,044 (GRCm39)	missense	probably benign	0.00
R2092:Or5b102	UTSW	19	13,041,166 (GRCm39)	nonsense	probably null
R2656:Or5b102	UTSW	19	13,041,348 (GRCm39)	missense	probably benign	0.05
R2850:Or5b102	UTSW	19	13,040,934 (GRCm39)	missense	probably damaging	1.00
R4212:Or5b102	UTSW	19	13,041,123 (GRCm39)	missense	probably damaging	0.98
R5303:Or5b102	UTSW	19	13,041,139 (GRCm39)	nonsense	probably null
R6362:Or5b102	UTSW	19	13,040,709 (GRCm39)	start gained	probably benign
R6928:Or5b102	UTSW	19	13,041,348 (GRCm39)	missense	probably benign	0.05
R7183:Or5b102	UTSW	19	13,041,680 (GRCm39)	missense	probably benign	0.00
R7701:Or5b102	UTSW	19	13,041,445 (GRCm39)	missense	probably damaging	1.00
R7741:Or5b102	UTSW	19	13,041,423 (GRCm39)	missense	probably damaging	0.98
R8057:Or5b102	UTSW	19	13,040,638 (GRCm39)	start gained	probably benign
R8272:Or5b102	UTSW	19	13,040,795 (GRCm39)	missense	possibly damaging	0.47
R8769:Or5b102	UTSW	19	13,041,307 (GRCm39)	nonsense	probably null
R9400:Or5b102	UTSW	19	13,041,139 (GRCm39)	nonsense	probably null
R9511:Or5b102	UTSW	19	13,041,119 (GRCm39)	missense	probably damaging	0.99
R9651:Or5b102	UTSW	19	13,041,256 (GRCm39)	missense	probably benign	0.01
Z1176:Or5b102	UTSW	19	13,041,010 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- ATATCTGTGGATTCCTCAATGCTTC -3'
(R):5'- TCGGGATGACCATGGTGTAG -3'

Sequencing Primer
(F):5'- ACTGTAGATGCATTAAGTCTCTCC -3'
(R):5'- GAACACAGATGCGATTTTATCAGTG -3'

Posted On

2021-01-18