Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Or5d39'

422909

Institutional Source

Beutler Lab

Gene Symbol

Or5d39

Ensembl Gene

ENSMUSG00000100899

Gene Name

olfactory receptor family 5 subfamily D member 39

Synonyms

Olfr1167, MOR174-16, GA_x6K02T2Q125-49641892-49640942

MMRRC Submission

042941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87979328-87980427 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87980146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 72 (D72E)

Ref Sequence

ENSEMBL: ENSMUSP00000149599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099832] [ENSMUST00000216951]

AlphaFold

Q7TR26

Predicted Effect

probably damaging
Transcript: ENSMUST00000099832
AA Change: D72E

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

SMART Domains

Protein: ENSMUSP00000097420
Gene: ENSMUSG00000100899
AA Change: D72E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	310	1.3e-47	PFAM
Pfam:7tm_1	43	292	3e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216951
AA Change: D72E

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,132,963 (GRCm39)	I40T	probably benign	Het
Abca13	T	C	11: 9,227,035 (GRCm39)	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc1	A	G	2: 128,492,114 (GRCm39)		probably null	Het
Ap4e1	G	A	2: 126,879,784 (GRCm39)		probably null	Het
Apod	T	C	16: 31,129,909 (GRCm39)	T16A	probably benign	Het
Arrdc5	C	T	17: 56,607,138 (GRCm39)	V36M	probably damaging	Het
Bcan	A	G	3: 87,902,794 (GRCm39)	V328A	probably damaging	Het
Bche	A	G	3: 73,607,972 (GRCm39)	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,941,756 (GRCm39)	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,528,556 (GRCm39)	T555A	probably benign	Het
Ciita	C	T	16: 10,330,031 (GRCm39)	H769Y	probably damaging	Het
Clspn	A	G	4: 126,455,579 (GRCm39)	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,358,986 (GRCm39)	M562K	probably benign	Het
Cstdc1	G	T	2: 148,625,298 (GRCm39)	L77F	probably damaging	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Cyp2a22	T	A	7: 26,635,858 (GRCm39)	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,669,410 (GRCm39)	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,544,297 (GRCm39)	I323N	probably damaging	Het
Fat4	A	G	3: 38,942,154 (GRCm39)	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Hectd4	T	C	5: 121,448,666 (GRCm39)	M338T	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Lactb2	A	T	1: 13,700,356 (GRCm39)	I225N	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mrps30	A	G	13: 118,523,698 (GRCm39)	S25P	probably benign	Het
Myg1	T	C	15: 102,246,259 (GRCm39)	V378A	probably benign	Het
Notch4	C	T	17: 34,806,097 (GRCm39)	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,710,660 (GRCm39)	D121G	probably damaging	Het
Or10p21	C	A	10: 128,847,783 (GRCm39)	P210T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pclo	A	G	5: 14,719,424 (GRCm39)	D1187G	unknown	Het
Pkd1	T	A	17: 24,784,047 (GRCm39)	Y198N	probably benign	Het
Plk4	T	A	3: 40,756,419 (GRCm39)	N83K	possibly damaging	Het
Prune2	A	T	19: 17,095,630 (GRCm39)	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,436,674 (GRCm39)	T118K	possibly damaging	Het
Rin3	G	A	12: 102,292,093 (GRCm39)	V97M	probably damaging	Het
Rock2	T	C	12: 17,015,655 (GRCm39)		probably null	Het
Slc34a1	A	G	13: 55,551,081 (GRCm39)	I289V	probably benign	Het
Slc34a1	T	C	13: 55,560,103 (GRCm39)	L443P	probably damaging	Het
Slco2a1	A	T	9: 102,947,462 (GRCm39)	I254F	probably damaging	Het
Spink11	T	C	18: 44,328,753 (GRCm39)	I32V	probably benign	Het
Spire1	T	C	18: 67,639,625 (GRCm39)	E296G	probably damaging	Het
Sun1	A	G	5: 139,220,498 (GRCm39)	N410D	probably damaging	Het
Syt14	T	A	1: 192,612,971 (GRCm39)	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,740,866 (GRCm39)	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,353,746 (GRCm39)		probably null	Het
Thbs1	A	T	2: 117,953,147 (GRCm39)	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,024,674 (GRCm39)	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,682,468 (GRCm39)	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,194,072 (GRCm39)	E700G	probably benign	Het
Zfp446	G	A	7: 12,711,984 (GRCm39)	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555 (GRCm39)	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,359,128 (GRCm39)	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,046,819 (GRCm39)	C552R	probably damaging	Het

Other mutations in Or5d39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Or5d39	APN	2	87,979,604 (GRCm39)	missense	possibly damaging	0.55
IGL01525:Or5d39	APN	2	87,980,221 (GRCm39)	missense	probably benign	0.15
IGL02008:Or5d39	APN	2	87,979,922 (GRCm39)	missense	probably damaging	1.00
IGL02116:Or5d39	APN	2	87,979,632 (GRCm39)	missense	probably benign	0.03
IGL02740:Or5d39	APN	2	87,979,601 (GRCm39)	missense	probably damaging	1.00
IGL03493:Or5d39	APN	2	87,980,280 (GRCm39)	missense	probably benign	0.02
PIT4498001:Or5d39	UTSW	2	87,980,259 (GRCm39)	missense	probably benign	0.00
R1951:Or5d39	UTSW	2	87,979,641 (GRCm39)	missense	possibly damaging	0.50
R2060:Or5d39	UTSW	2	87,979,487 (GRCm39)	missense	probably damaging	1.00
R4167:Or5d39	UTSW	2	87,980,189 (GRCm39)	missense	probably damaging	0.97
R4168:Or5d39	UTSW	2	87,980,189 (GRCm39)	missense	probably damaging	0.97
R4244:Or5d39	UTSW	2	87,979,632 (GRCm39)	missense	probably benign	0.00
R5778:Or5d39	UTSW	2	87,979,961 (GRCm39)	missense	probably damaging	1.00
R5939:Or5d39	UTSW	2	87,979,853 (GRCm39)	missense	probably damaging	1.00
R6502:Or5d39	UTSW	2	87,980,360 (GRCm39)	start codon destroyed	probably null	0.37
R7036:Or5d39	UTSW	2	87,979,469 (GRCm39)	missense	probably damaging	0.99
R7104:Or5d39	UTSW	2	87,979,716 (GRCm39)	missense	possibly damaging	0.65
R7340:Or5d39	UTSW	2	87,979,620 (GRCm39)	missense	possibly damaging	0.95
R7481:Or5d39	UTSW	2	87,980,105 (GRCm39)	missense	probably benign	0.12
R7615:Or5d39	UTSW	2	87,979,862 (GRCm39)	missense	probably benign	0.01
R8684:Or5d39	UTSW	2	87,979,872 (GRCm39)	missense	probably benign	0.16
R9030:Or5d39	UTSW	2	87,979,718 (GRCm39)	missense	possibly damaging	0.80
R9189:Or5d39	UTSW	2	87,979,908 (GRCm39)	missense	probably benign
R9598:Or5d39	UTSW	2	87,979,935 (GRCm39)	missense	probably damaging	0.99
R9641:Or5d39	UTSW	2	87,980,255 (GRCm39)	missense	possibly damaging	0.94
R9751:Or5d39	UTSW	2	87,979,614 (GRCm39)	missense	probably benign	0.13
X0050:Or5d39	UTSW	2	87,980,040 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTACTAGCAGAGCACAGAATTG -3'
(R):5'- TCTTGGTCGGTTTCTCAGAATATC -3'

Sequencing Primer
(F):5'- GAGCACAGAATTGTATAGGCATTAC -3'
(R):5'- GGTCGGTTTCTCAGAATATCCACAG -3'

Posted On

2016-08-04