Mutagenetix > Incidental Mutation

Incidental Mutation 'R0690:Or5be3'

61315

Institutional Source

Beutler Lab

Gene Symbol

Or5be3

Ensembl Gene

ENSMUSG00000075165

Gene Name

olfactory receptor family 5 subfamily BE member 3

Synonyms

Olfr1105, GA_x6K02T2Q125-48521031-48520093, MOR0-6P, MOR172-7

MMRRC Submission

038875-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R0690 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

86863625-86864563 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86864226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 113 (F113S)

Ref Sequence

ENSEMBL: ENSMUSP00000149148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099868] [ENSMUST00000215978]

AlphaFold

Q7TR58

Predicted Effect

probably damaging
Transcript: ENSMUST00000099868
AA Change: F113S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097453
Gene: ENSMUSG00000075165
AA Change: F113S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	308	5.2e-47	PFAM
Pfam:7TM_GPCR_Srsx	35	305	5.5e-6	PFAM
Pfam:7tm_1	41	308	5.2e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215978
AA Change: F113S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

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

Validation Efficiency

97% (87/90)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,860,634 (GRCm39)		probably benign	Het
Abi3	T	C	11: 95,724,460 (GRCm39)		probably benign	Het
Adam2	T	C	14: 66,295,095 (GRCm39)	N250S	probably damaging	Het
Agbl4	T	A	4: 111,514,585 (GRCm39)	I532K	probably benign	Het
Agrn	T	G	4: 156,258,910 (GRCm39)	E905A	probably damaging	Het
Ahi1	A	G	10: 20,846,742 (GRCm39)		probably benign	Het
Aifm2	A	G	10: 61,562,231 (GRCm39)	N89S	probably benign	Het
Arsj	C	T	3: 126,231,833 (GRCm39)	T193I	probably damaging	Het
Ascc2	T	A	11: 4,632,933 (GRCm39)	V702E	probably damaging	Het
Avpr1b	T	C	1: 131,528,019 (GRCm39)	S181P	probably damaging	Het
Bcl7a	G	A	5: 123,490,003 (GRCm39)	V56I	possibly damaging	Het
Cd160	T	A	3: 96,713,102 (GRCm39)	D54V	probably damaging	Het
Celsr2	C	A	3: 108,322,293 (GRCm39)	R173M	probably damaging	Het
Cfap57	A	G	4: 118,426,924 (GRCm39)		probably benign	Het
Cfap69	G	A	5: 5,713,951 (GRCm39)	T27I	probably damaging	Het
Chaf1b	T	C	16: 93,696,905 (GRCm39)		probably benign	Het
Cldn8	C	T	16: 88,359,527 (GRCm39)	V133M	probably damaging	Het
Col2a1	A	T	15: 97,878,073 (GRCm39)	V954E	unknown	Het
Col6a4	T	C	9: 105,905,386 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,586,685 (GRCm39)	M1779V	probably benign	Het
Coq8b	A	G	7: 26,941,674 (GRCm39)	E253G	probably benign	Het
Ctse	T	C	1: 131,602,516 (GRCm39)		probably benign	Het
Cyp2c29	T	A	19: 39,298,170 (GRCm39)	N238K	probably benign	Het
Dcaf1	T	A	9: 106,723,848 (GRCm39)		probably benign	Het
Dcc	A	T	18: 71,942,275 (GRCm39)		probably benign	Het
Dkk1	A	G	19: 30,526,745 (GRCm39)	F12S	probably benign	Het
Dnah6	A	G	6: 73,106,457 (GRCm39)	V1760A	probably benign	Het
Fam117b	G	A	1: 59,997,512 (GRCm39)	S288N	possibly damaging	Het
Fam216a	A	T	5: 122,505,709 (GRCm39)	M110K	probably damaging	Het
Frem3	T	A	8: 81,340,581 (GRCm39)	I958N	possibly damaging	Het
Gab1	T	A	8: 81,526,745 (GRCm39)	N118Y	probably damaging	Het
Gda	T	A	19: 21,387,251 (GRCm39)	I251L	probably benign	Het
Gli2	C	A	1: 118,772,190 (GRCm39)	R505L	probably damaging	Het
Gm5093	A	T	17: 46,750,664 (GRCm39)	I121N	possibly damaging	Het
Gpnmb	C	T	6: 49,024,949 (GRCm39)	S327L	probably benign	Het
Gpr156	T	A	16: 37,812,503 (GRCm39)	Y280N	probably damaging	Het
Gria4	A	G	9: 4,427,071 (GRCm39)	Y790H	probably damaging	Het
Guf1	C	A	5: 69,723,695 (GRCm39)		probably null	Het
H6pd	T	C	4: 150,067,030 (GRCm39)	E452G	possibly damaging	Het
Herc1	T	A	9: 66,294,120 (GRCm39)	Y487*	probably null	Het
Ifi30	T	A	8: 71,217,593 (GRCm39)		probably benign	Het
Klf13	G	A	7: 63,587,819 (GRCm39)	A159V	possibly damaging	Het
Med11	T	A	11: 70,344,052 (GRCm39)	M124K	possibly damaging	Het
Myom3	A	G	4: 135,515,737 (GRCm39)		probably benign	Het
Nat2	A	T	8: 67,954,456 (GRCm39)	I189F	probably damaging	Het
Nhlrc4	C	G	17: 26,162,658 (GRCm39)	G30R	probably damaging	Het
Nkx3-2	G	A	5: 41,919,470 (GRCm39)	R173C	probably damaging	Het
Nox3	T	C	17: 3,745,839 (GRCm39)	N23S	probably damaging	Het
Npr2	A	T	4: 43,646,991 (GRCm39)	Y708F	probably damaging	Het
Nsun2	A	G	13: 69,777,661 (GRCm39)	N409S	probably benign	Het
Nucb2	T	C	7: 116,135,086 (GRCm39)		probably benign	Het
Or13a26	T	C	7: 140,284,700 (GRCm39)	F179L	possibly damaging	Het
Or8b12	T	C	9: 37,657,513 (GRCm39)	F28L	probably benign	Het
Orai2	A	T	5: 136,190,453 (GRCm39)	V52D	probably damaging	Het
Pcyox1	A	T	6: 86,371,424 (GRCm39)	M154K	probably damaging	Het
Pik3r4	C	A	9: 105,531,175 (GRCm39)	T492K	possibly damaging	Het
Pmpca	T	A	2: 26,281,109 (GRCm39)	Y150N	probably damaging	Het
Ppp1r12b	G	T	1: 134,803,820 (GRCm39)	S446R	probably damaging	Het
Ptpdc1	A	G	13: 48,740,381 (GRCm39)	I289T	probably benign	Het
Pyroxd2	A	G	19: 42,716,081 (GRCm39)		probably benign	Het
Qrfpr	G	A	3: 36,243,708 (GRCm39)	T131M	probably damaging	Het
Rab33b	A	G	3: 51,400,838 (GRCm39)	Y104C	probably damaging	Het
Rad54l	G	T	4: 115,956,947 (GRCm39)		probably benign	Het
Rad9a	A	T	19: 4,247,359 (GRCm39)		probably null	Het
Slc1a5	A	T	7: 16,520,829 (GRCm39)	M233L	probably benign	Het
Slc47a2	C	T	11: 61,233,330 (GRCm39)	V67I	possibly damaging	Het
Slco1a5	T	A	6: 142,214,004 (GRCm39)	Y39F	probably benign	Het
Slfn5	T	C	11: 82,852,229 (GRCm39)	V785A	probably damaging	Het
Sp6	C	T	11: 96,912,370 (GRCm39)	P28S	possibly damaging	Het
Sptbn5	A	G	2: 119,893,156 (GRCm39)		probably null	Het
Sry	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	Y: 2,662,944 (GRCm39)		probably benign	Het
St8sia1	A	G	6: 142,774,980 (GRCm39)	W200R	probably damaging	Het
Stxbp1	C	A	2: 32,690,707 (GRCm39)		probably benign	Het
Syne1	A	G	10: 4,983,138 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,127,472 (GRCm39)	I371N	possibly damaging	Het
Tll1	C	T	8: 64,527,324 (GRCm39)	S399N	probably damaging	Het
Tmem209	A	C	6: 30,505,833 (GRCm39)	C114G	probably null	Het
Tmem25	C	T	9: 44,706,811 (GRCm39)		probably benign	Het
Tmem8b	T	C	4: 43,674,562 (GRCm39)	I282T	possibly damaging	Het
Trdmt1	T	A	2: 13,549,391 (GRCm39)	H18L	probably benign	Het
Trim63	A	G	4: 134,043,716 (GRCm39)	T60A	probably benign	Het
Trpv2	T	C	11: 62,475,502 (GRCm39)		probably null	Het
Ubr2	A	T	17: 47,249,579 (GRCm39)	I1591K	probably damaging	Het
Use1	A	T	8: 71,819,709 (GRCm39)		probably benign	Het
Zfp850	A	T	7: 27,684,642 (GRCm39)	C35S	possibly damaging	Het

Other mutations in Or5be3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01673:Or5be3	APN	2	86,863,731 (GRCm39)	missense	probably damaging	1.00
IGL02029:Or5be3	APN	2	86,864,245 (GRCm39)	missense	probably benign	0.00
IGL02332:Or5be3	APN	2	86,864,556 (GRCm39)	missense	probably benign	0.32
3-1:Or5be3	UTSW	2	86,864,028 (GRCm39)	missense	probably damaging	1.00
R0060:Or5be3	UTSW	2	86,864,118 (GRCm39)	missense	probably damaging	1.00
R0060:Or5be3	UTSW	2	86,864,118 (GRCm39)	missense	probably damaging	1.00
R0100:Or5be3	UTSW	2	86,863,939 (GRCm39)	missense	probably benign	0.01
R0100:Or5be3	UTSW	2	86,863,939 (GRCm39)	missense	probably benign	0.01
R0417:Or5be3	UTSW	2	86,863,789 (GRCm39)	missense	probably damaging	0.99
R0573:Or5be3	UTSW	2	86,863,812 (GRCm39)	missense	probably damaging	1.00
R0589:Or5be3	UTSW	2	86,864,459 (GRCm39)	nonsense	probably null
R0630:Or5be3	UTSW	2	86,863,653 (GRCm39)	missense	probably benign	0.05
R3929:Or5be3	UTSW	2	86,864,428 (GRCm39)	missense	possibly damaging	0.88
R4563:Or5be3	UTSW	2	86,864,028 (GRCm39)	missense	probably damaging	1.00
R4718:Or5be3	UTSW	2	86,864,239 (GRCm39)	missense	probably damaging	0.99
R6362:Or5be3	UTSW	2	86,863,633 (GRCm39)	missense	probably benign	0.11
R8867:Or5be3	UTSW	2	86,863,803 (GRCm39)	missense	probably damaging	1.00
R9430:Or5be3	UTSW	2	86,864,253 (GRCm39)	missense	probably damaging	0.99
RF011:Or5be3	UTSW	2	86,864,385 (GRCm39)	missense	probably damaging	0.96
Z1176:Or5be3	UTSW	2	86,863,831 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACAGTTAGGTGGGACGCACAAG -3'
(R):5'- TGACCGAGGACCCTGTACTGAATAC -3'

Sequencing Primer
(F):5'- CTCACTGTCATGAGTATCAGAGC -3'
(R):5'- GGACCCTGTACTGAATACTGTACTC -3'

Posted On

2013-07-30