Mutagenetix > Incidental Mutation

Incidental Mutation 'R9751:Or5d39'

732497

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

Accession Numbers

Essential gene?

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

Stock #

R9751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87979328-87980427 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87979614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 250 (I250L)

Ref Sequence

ENSEMBL: ENSMUSP00000149599 (fasta)

Gene Model

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

AlphaFold

Q7TR26

Predicted Effect

probably benign
Transcript: ENSMUST00000099832
AA Change: I250L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097420
Gene: ENSMUSG00000100899
AA Change: I250L

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 benign
Transcript: ENSMUST00000216951
AA Change: I250L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,881,126 (GRCm39)	N514D	probably benign	Het
Adgre1	G	A	17: 57,757,101 (GRCm39)	R786H	probably null	Het
Ankrd7	G	A	6: 18,868,024 (GRCm39)	V97I	probably damaging	Het
Bltp1	A	G	3: 37,065,889 (GRCm39)	I54M		Het
Bmper	C	T	9: 23,318,009 (GRCm39)	P543S	possibly damaging	Het
Brwd1	A	T	16: 95,795,015 (GRCm39)	M2233K	possibly damaging	Het
C1s2	G	T	6: 124,602,553 (GRCm39)	P553T	probably damaging	Het
Cachd1	G	A	4: 100,823,438 (GRCm39)	V497I	possibly damaging	Het
Cacng4	A	G	11: 107,626,019 (GRCm39)	S191P	probably damaging	Het
Cd109	C	A	9: 78,605,442 (GRCm39)	T1015K	probably damaging	Het
Clstn2	A	G	9: 97,339,703 (GRCm39)	L756P	probably damaging	Het
Crybg3	A	T	16: 59,377,887 (GRCm39)	D1122E	possibly damaging	Het
Csf2	A	T	11: 54,140,420 (GRCm39)	L6*	probably null	Het
Csnk1g2	T	A	10: 80,473,745 (GRCm39)	Y71N	possibly damaging	Het
Dlg2	C	A	7: 90,564,731 (GRCm39)	H116N	probably benign	Het
Dnah14	C	T	1: 181,619,610 (GRCm39)	S3978L	probably damaging	Het
Dpp8	C	T	9: 64,960,453 (GRCm39)	T328I	probably null	Het
Dync2i1	T	A	12: 116,205,403 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,163,450 (GRCm39)	V1625A	probably damaging	Het
Efcab3	G	A	11: 104,783,911 (GRCm39)	G2754E	probably benign	Het
Egf	C	A	3: 129,548,538 (GRCm39)	V26F	probably damaging	Het
Eif1ad19	T	C	12: 87,740,526 (GRCm39)	N11S	possibly damaging	Het
Fam20a	T	A	11: 109,565,992 (GRCm39)	Y414F	probably damaging	Het
Fsip2	T	C	2: 82,818,241 (GRCm39)	I4658T	probably benign	Het
Hycc1	C	T	5: 24,196,748 (GRCm39)	E47K	probably benign	Het
Igflr1	A	T	7: 30,266,653 (GRCm39)	Q167L	possibly damaging	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Map3k6	A	G	4: 132,979,168 (GRCm39)		probably null	Het
Mcpt4	A	G	14: 56,297,511 (GRCm39)	I215T	probably damaging	Het
Med13	T	C	11: 86,189,984 (GRCm39)	Y975C	probably damaging	Het
Meioc	T	A	11: 102,566,419 (GRCm39)	Y678*	probably null	Het
Myof	T	C	19: 37,924,818 (GRCm39)	T1190A	probably benign	Het
Nap1l4	A	C	7: 143,088,132 (GRCm39)		probably benign	Het
Ncapg	T	C	5: 45,851,195 (GRCm39)	V796A	probably damaging	Het
Or4c10b	C	T	2: 89,711,956 (GRCm39)	T262I	probably benign	Het
Or4c119	C	T	2: 88,986,782 (GRCm39)	V246M	possibly damaging	Het
Or5d40	T	A	2: 88,015,260 (GRCm39)	V13E	possibly damaging	Het
Or5p68	T	C	7: 107,945,645 (GRCm39)	Y181C	probably benign	Het
Paxbp1	A	G	16: 90,824,188 (GRCm39)	S515P	probably benign	Het
Pip4p1	A	G	14: 51,165,436 (GRCm39)	V257A	probably benign	Het
Plce1	C	T	19: 38,717,414 (GRCm39)	S1401F	probably damaging	Het
Rptor	A	G	11: 119,777,964 (GRCm39)	K1043E	probably benign	Het
Rtn4rl2	T	G	2: 84,711,039 (GRCm39)	N75T	probably damaging	Het
Slc35f4	A	G	14: 49,536,291 (GRCm39)	I448T	possibly damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tas2r115	A	G	6: 132,714,918 (GRCm39)	I11T	possibly damaging	Het
Tbc1d5	A	G	17: 51,181,680 (GRCm39)	V351A	possibly damaging	Het
Trim43b	A	T	9: 88,971,570 (GRCm39)	D195E	probably benign	Het
Trim65	C	A	11: 116,021,564 (GRCm39)	A90S	probably benign	Het
Trip11	C	T	12: 101,850,765 (GRCm39)	V1100I	possibly damaging	Het
Tyrp1	A	G	4: 80,759,012 (GRCm39)	E295G	probably null	Het
Ube2g2	G	A	10: 77,480,307 (GRCm39)	V138I	probably benign	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
R5363:Or5d39	UTSW	2	87,980,146 (GRCm39)	missense	probably damaging	1.00
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
X0050:Or5d39	UTSW	2	87,980,040 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTTTTGAGCTGATAAGTCTCCTG -3'
(R):5'- CACTTTGGCTGTGAATACTCTGC -3'

Sequencing Primer
(F):5'- GTCTCCTGACTGTGTCCTTCAC -3'
(R):5'- GGCTGTGAATACTCTGCTGTCATC -3'

Posted On

2022-11-14