Mutagenetix > Incidental Mutation

Incidental Mutation 'R0707:Or5b3'

63200

Institutional Source

Beutler Lab

Gene Symbol

Or5b3

Ensembl Gene

ENSMUSG00000063777

Gene Name

olfactory receptor family 5 subfamily B member 3

Synonyms

MOR202-11, Olfr1469, GA_x6K02T2RE5P-3743369-3744289

MMRRC Submission

038890-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R0707 (G1)

Quality Score

101

Status

Validated

Chromosome

Chromosomal Location

13387935-13388864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13388784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 284 (M284L)

Ref Sequence

ENSEMBL: ENSMUSP00000150006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077538] [ENSMUST00000216910]

AlphaFold

Q8VFW5

Predicted Effect

probably benign
Transcript: ENSMUST00000077538
AA Change: M284L

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000076741
Gene: ENSMUSG00000063777
AA Change: M284L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2e-47	PFAM
Pfam:7tm_1	42	290	2.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216910
AA Change: M284L

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.2059

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,617,329 (GRCm39)	F259S	probably damaging	Het
Aldh16a1	T	A	7: 44,793,931 (GRCm39)		probably benign	Het
Ankrd24	A	T	10: 81,478,547 (GRCm39)		probably benign	Het
Arhgap5	T	C	12: 52,564,951 (GRCm39)	S641P	probably damaging	Het
Arpp21	A	C	9: 111,986,824 (GRCm39)	S242R	probably benign	Het
Bpifb5	A	G	2: 154,070,820 (GRCm39)	T204A	probably benign	Het
Bud31	A	G	5: 145,083,265 (GRCm39)	Y77C	probably damaging	Het
Ccdc65	G	A	15: 98,607,095 (GRCm39)	V101I	possibly damaging	Het
Ccr7	T	A	11: 99,036,809 (GRCm39)	T38S	probably damaging	Het
Cdc14a	T	C	3: 116,087,362 (GRCm39)		probably benign	Het
Ces2f	C	T	8: 105,677,618 (GRCm39)	H208Y	possibly damaging	Het
Chst1	C	A	2: 92,443,964 (GRCm39)	N145K	possibly damaging	Het
Clock	A	G	5: 76,374,976 (GRCm39)	V731A	possibly damaging	Het
Cog6	C	T	3: 52,921,283 (GRCm39)	V108I	possibly damaging	Het
Cplane1	T	A	15: 8,287,805 (GRCm39)	N2881K	unknown	Het
Crtc2	T	A	3: 90,170,804 (GRCm39)	F626I	probably damaging	Het
Dicer1	A	T	12: 104,673,144 (GRCm39)	F792I	probably damaging	Het
Dnajc13	T	C	9: 104,049,781 (GRCm39)	K1780R	probably benign	Het
Dph5	A	C	3: 115,708,782 (GRCm39)	N155H	probably benign	Het
Dscam	T	C	16: 96,626,982 (GRCm39)		probably null	Het
Etl4	C	A	2: 20,810,382 (GRCm39)		probably benign	Het
Flt3l	T	C	7: 44,785,450 (GRCm39)	S9G	probably benign	Het
Fmnl2	A	G	2: 52,944,498 (GRCm39)	E159G	possibly damaging	Het
Fryl	A	G	5: 73,240,715 (GRCm39)	I1295T	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Herc6	G	A	6: 57,639,347 (GRCm39)	G905E	possibly damaging	Het
Hhip	T	A	8: 80,724,884 (GRCm39)	N296I	probably damaging	Het
Hmgcr	A	T	13: 96,787,151 (GRCm39)		probably benign	Het
Kalrn	T	G	16: 33,830,951 (GRCm39)	N723H	possibly damaging	Het
Mroh5	T	A	15: 73,662,588 (GRCm39)	Y242F	possibly damaging	Het
Msh3	T	A	13: 92,483,848 (GRCm39)	K258*	probably null	Het
Myo1a	T	C	10: 127,555,732 (GRCm39)		probably benign	Het
Nlrp4f	C	T	13: 65,342,317 (GRCm39)	E443K	probably benign	Het
Nupr2	A	G	5: 129,937,533 (GRCm39)	Y34C	probably damaging	Het
Ociad1	T	C	5: 73,452,255 (GRCm39)		probably benign	Het
Or1af1	A	T	2: 37,110,208 (GRCm39)	K236*	probably null	Het
Or5af2	T	A	11: 58,708,577 (GRCm39)	L248M	probably damaging	Het
Or5p5	A	G	7: 107,414,331 (GRCm39)	D182G	probably damaging	Het
Or6ae1	T	C	7: 139,742,002 (GRCm39)	N287S	probably damaging	Het
P2ry12	C	A	3: 59,124,908 (GRCm39)	V256F	probably damaging	Het
Pcdhb22	T	A	18: 37,651,904 (GRCm39)	I124N	probably damaging	Het
Pcnt	A	G	10: 76,256,375 (GRCm39)	F622L	probably damaging	Het
Pfas	A	T	11: 68,888,863 (GRCm39)	N361K	probably benign	Het
Plod2	T	G	9: 92,487,480 (GRCm39)	L600V	possibly damaging	Het
Pole	T	C	5: 110,446,854 (GRCm39)	Y631H	probably damaging	Het
Proser1	T	C	3: 53,386,197 (GRCm39)	L693P	probably damaging	Het
Ptprd	A	G	4: 75,875,476 (GRCm39)	Y1195H	probably damaging	Het
Rbm27	T	A	18: 42,459,091 (GRCm39)		probably null	Het
Ric8a	A	G	7: 140,437,886 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rimkla	C	T	4: 119,335,177 (GRCm39)	V69M	probably damaging	Het
Scfd1	A	T	12: 51,459,360 (GRCm39)	K307M	probably damaging	Het
Sh2b2	A	G	5: 136,261,117 (GRCm39)	F33S	probably damaging	Het
Smg7	T	G	1: 152,746,508 (GRCm39)		probably null	Het
Srebf1	T	C	11: 60,094,942 (GRCm39)	T486A	probably benign	Het
Strn3	G	A	12: 51,657,187 (GRCm39)	T642I	probably damaging	Het
Syne2	T	C	12: 76,028,837 (GRCm39)		probably null	Het
Syne3	A	G	12: 104,935,619 (GRCm39)	L53P	probably damaging	Het
Tcea1	T	A	1: 4,950,569 (GRCm39)		probably benign	Het
Tmem30b	T	C	12: 73,592,942 (GRCm39)	N58D	probably benign	Het
Tnpo1	A	G	13: 98,991,954 (GRCm39)	Y641H	probably damaging	Het
Trim25	A	T	11: 88,890,564 (GRCm39)	T84S	probably benign	Het
Trip4	A	T	9: 65,746,286 (GRCm39)	F537I	possibly damaging	Het
Uaca	G	A	9: 60,755,900 (GRCm39)		probably benign	Het
Ugt2b34	T	A	5: 87,040,758 (GRCm39)	Y388F	possibly damaging	Het
Vmn2r71	T	C	7: 85,268,640 (GRCm39)	V281A	probably benign	Het
Vps13d	A	T	4: 144,882,502 (GRCm39)	D1030E	probably damaging	Het
Vps8	C	A	16: 21,261,107 (GRCm39)	F82L	probably damaging	Het
Zfp296	A	G	7: 19,313,661 (GRCm39)	D172G	probably benign	Het
Zfp977	C	A	7: 42,229,958 (GRCm39)	C189F	probably damaging	Het

Other mutations in Or5b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Or5b3	APN	19	13,388,590 (GRCm39)	missense	probably benign	0.01
IGL01520:Or5b3	APN	19	13,388,114 (GRCm39)	missense	probably damaging	0.97
IGL01671:Or5b3	APN	19	13,388,255 (GRCm39)	missense	probably benign	0.29
IGL02247:Or5b3	APN	19	13,388,831 (GRCm39)	missense	probably benign	0.01
IGL02297:Or5b3	APN	19	13,388,839 (GRCm39)	missense	probably benign	0.00
IGL02417:Or5b3	APN	19	13,388,259 (GRCm39)	missense	possibly damaging	0.52
IGL02442:Or5b3	APN	19	13,388,351 (GRCm39)	missense	probably benign	0.00
IGL02989:Or5b3	APN	19	13,388,850 (GRCm39)	missense	probably benign
IGL03269:Or5b3	APN	19	13,388,792 (GRCm39)	missense	probably damaging	0.99
IGL02988:Or5b3	UTSW	19	13,388,826 (GRCm39)	missense	possibly damaging	0.75
R1055:Or5b3	UTSW	19	13,388,754 (GRCm39)	missense	probably benign	0.10
R1102:Or5b3	UTSW	19	13,388,454 (GRCm39)	missense	probably damaging	1.00
R1946:Or5b3	UTSW	19	13,388,143 (GRCm39)	missense	possibly damaging	0.64
R2111:Or5b3	UTSW	19	13,388,307 (GRCm39)	missense	probably damaging	0.99
R4072:Or5b3	UTSW	19	13,388,299 (GRCm39)	missense	possibly damaging	0.49
R4073:Or5b3	UTSW	19	13,388,299 (GRCm39)	missense	possibly damaging	0.49
R4076:Or5b3	UTSW	19	13,388,299 (GRCm39)	missense	possibly damaging	0.49
R4726:Or5b3	UTSW	19	13,388,469 (GRCm39)	missense	probably damaging	1.00
R4939:Or5b3	UTSW	19	13,388,219 (GRCm39)	missense	probably benign	0.10
R5914:Or5b3	UTSW	19	13,388,326 (GRCm39)	missense	probably benign	0.31
R6003:Or5b3	UTSW	19	13,388,403 (GRCm39)	missense	probably benign	0.34
R6743:Or5b3	UTSW	19	13,387,957 (GRCm39)	missense	probably damaging	1.00
R6825:Or5b3	UTSW	19	13,388,514 (GRCm39)	missense	probably benign	0.01
R6826:Or5b3	UTSW	19	13,388,452 (GRCm39)	missense	probably benign	0.05
R6970:Or5b3	UTSW	19	13,388,792 (GRCm39)	missense	probably damaging	0.99
R7558:Or5b3	UTSW	19	13,388,355 (GRCm39)	missense	probably damaging	1.00
R7596:Or5b3	UTSW	19	13,388,511 (GRCm39)	missense	probably benign	0.01
R7923:Or5b3	UTSW	19	13,388,182 (GRCm39)	missense	probably benign	0.17
R8014:Or5b3	UTSW	19	13,388,175 (GRCm39)	missense	not run
R8506:Or5b3	UTSW	19	13,388,604 (GRCm39)	missense	possibly damaging	0.49
R8746:Or5b3	UTSW	19	13,388,092 (GRCm39)	missense	probably benign	0.44
R8803:Or5b3	UTSW	19	13,388,037 (GRCm39)	missense	probably damaging	0.99
R9112:Or5b3	UTSW	19	13,388,475 (GRCm39)	missense	probably benign	0.05
R9721:Or5b3	UTSW	19	13,388,334 (GRCm39)	missense	probably benign	0.17
Z1177:Or5b3	UTSW	19	13,388,083 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCGAAAGGCTATATCCACTTGTGCCTC -3'
(R):5'- TCTTCACTGACCAGTCAAAGCAAGAG -3'

Sequencing Primer
(F):5'- GTGCCTCACACTTCATTGCG -3'
(R):5'- GGTTGTTCTGTAGCAGTCAACTAAC -3'

Posted On

2013-07-30