Mutagenetix > Incidental Mutation

Incidental Mutation 'R7741:Or5b102'

596576

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

045797-MU

Accession Numbers

Essential gene?

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

Stock #

R7741 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13040777-13041700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13041423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 216 (Y216F)

Ref Sequence

ENSEMBL: ENSMUSP00000150001 (fasta)

Gene Model

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

AlphaFold

Q8VFW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000073732
AA Change: Y216F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073409
Gene: ENSMUSG00000094986
AA Change: Y216F

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: Y216F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214695
AA Change: Y216F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217568
AA Change: Y216F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,290,551 (GRCm39)	P118S	probably damaging	Het
Adgrl1	T	A	8: 84,656,343 (GRCm39)	D215E	probably damaging	Het
Afap1l2	T	C	19: 56,902,914 (GRCm39)	D755G	probably damaging	Het
Akr1c18	T	A	13: 4,194,332 (GRCm39)	D109V	possibly damaging	Het
Brdt	G	A	5: 107,506,752 (GRCm39)	R445H	probably benign	Het
Capn2	C	A	1: 182,307,288 (GRCm39)	E517*	probably null	Het
Celsr1	A	T	15: 85,863,303 (GRCm39)	V1243E	possibly damaging	Het
Cenpe	C	G	3: 134,953,096 (GRCm39)		probably null	Het
Cep135	A	G	5: 76,778,817 (GRCm39)	E748G	probably damaging	Het
Cfap119	C	A	7: 127,187,159 (GRCm39)	V35L	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Col6a1	C	A	10: 76,545,743 (GRCm39)	A910S	unknown	Het
Cyp4a14	T	A	4: 115,347,156 (GRCm39)		probably null	Het
Dot1l	C	T	10: 80,619,378 (GRCm39)	R412W	probably damaging	Het
Dyrk2	T	C	10: 118,695,594 (GRCm39)	T555A	probably benign	Het
Foxn3	T	C	12: 99,162,587 (GRCm39)	N438S	probably damaging	Het
Gdpd5	T	C	7: 99,103,001 (GRCm39)	F320S	probably damaging	Het
Grn	A	G	11: 102,326,560 (GRCm39)	H413R	probably damaging	Het
Gstm7	A	T	3: 107,838,963 (GRCm39)	M3K	possibly damaging	Het
Il17rd	A	G	14: 26,822,293 (GRCm39)	E673G	probably damaging	Het
Klhl29	T	C	12: 5,187,500 (GRCm39)	D288G	possibly damaging	Het
Klk1b11	G	A	7: 43,426,421 (GRCm39)	A79T	probably benign	Het
Kmt2a	A	G	9: 44,719,359 (GRCm39)	V3914A	unknown	Het
Map2k2	T	C	10: 80,956,877 (GRCm39)	V307A	probably benign	Het
Mst1r	G	T	9: 107,784,319 (GRCm39)		probably benign	Het
Nr3c2	A	G	8: 77,937,275 (GRCm39)	E834G	probably damaging	Het
Oga	A	T	19: 45,764,501 (GRCm39)	L213H	probably damaging	Het
Ogfod3	T	G	11: 121,074,362 (GRCm39)		probably null	Het
Or8d2	T	C	9: 38,759,614 (GRCm39)	L68P	probably damaging	Het
Plscr4	A	T	9: 92,364,693 (GRCm39)		probably null	Het
Pou2f1	A	G	1: 165,703,444 (GRCm39)	S749P	probably damaging	Het
Ppp4r3b	T	G	11: 29,155,701 (GRCm39)	L556V	possibly damaging	Het
Psd4	T	G	2: 24,291,108 (GRCm39)		probably null	Het
Rbbp4	T	C	4: 129,228,356 (GRCm39)	D33G	probably damaging	Het
Rif1	T	A	2: 51,975,153 (GRCm39)	M354K	probably damaging	Het
Rmi1	A	G	13: 58,557,067 (GRCm39)	K439E	probably benign	Het
Scgb2b7	A	G	7: 31,404,454 (GRCm39)		probably null	Het
Sdc1	A	G	12: 8,841,370 (GRCm39)	D237G	probably benign	Het
Sel1l3	T	C	5: 53,357,593 (GRCm39)	Y133C	probably damaging	Het
Snx31	A	G	15: 36,523,587 (GRCm39)		probably null	Het
Snx7	A	G	3: 117,632,488 (GRCm39)	F201S	probably damaging	Het
Tas2r131	C	T	6: 132,934,438 (GRCm39)	V124I	possibly damaging	Het
Tbx20	A	T	9: 24,651,581 (GRCm39)		probably null	Het
Topbp1	A	T	9: 103,197,756 (GRCm39)	N445I	probably damaging	Het
Tpx2	T	A	2: 152,709,263 (GRCm39)	I31K	possibly damaging	Het
Trpv3	T	A	11: 73,179,088 (GRCm39)	V499E	probably damaging	Het
Tshr	G	A	12: 91,500,743 (GRCm39)	W258*	probably null	Het
Usp32	G	T	11: 84,878,107 (GRCm39)	D1543E	probably damaging	Het
Usp39	A	G	6: 72,315,521 (GRCm39)		probably benign	Het
Vac14	T	C	8: 111,361,020 (GRCm39)	S197P	probably damaging	Het
Vars2	A	G	17: 35,971,835 (GRCm39)	S497P	probably damaging	Het
Zfp462	C	A	4: 55,008,637 (GRCm39)	P201Q	probably benign	Het
Zkscan5	A	G	5: 145,157,847 (GRCm39)	Q783R	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
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
R8534:Or5b102	UTSW	19	13,041,432 (GRCm39)	missense	probably damaging	1.00
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'- ATGCTTCCATTTATACTGTAGATGC -3'
(R):5'- GAACACAGATGCGATTTTATCAGTG -3'

Posted On

2019-11-26