Mutagenetix > Incidental Mutation

Incidental Mutation 'R7104:Or5d39'

551034

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

045196-MU

Accession Numbers

Essential gene?

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

Stock #

R7104 (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 C at 87979716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 216 (T216A)

Ref Sequence

ENSEMBL: ENSMUSP00000149599 (fasta)

Gene Model

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

AlphaFold

Q7TR26

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099832
AA Change: T216A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097420
Gene: ENSMUSG00000100899
AA Change: T216A

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

possibly damaging
Transcript: ENSMUST00000216951
AA Change: T216A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl2	A	G	2: 90,627,891 (GRCm39)	E232G	probably damaging	Het
Atf7	A	G	15: 102,442,670 (GRCm39)	S480P	probably benign	Het
Cdk14	A	G	5: 5,245,325 (GRCm39)	I166T	possibly damaging	Het
Cdk5rap2	G	T	4: 70,267,393 (GRCm39)	F358L	probably benign	Het
Cplane1	T	C	15: 8,223,928 (GRCm39)	L897P	possibly damaging	Het
Cytip	A	G	2: 58,049,986 (GRCm39)	S28P	probably benign	Het
Dennd5b	C	T	6: 148,946,102 (GRCm39)	R503Q	probably damaging	Het
Dnajc10	T	A	2: 80,171,159 (GRCm39)	C480S	probably damaging	Het
Drc7	A	G	8: 95,785,711 (GRCm39)	D189G	probably damaging	Het
Engase	G	A	11: 118,372,121 (GRCm39)	V138M	probably damaging	Het
Esyt3	C	A	9: 99,220,840 (GRCm39)	R121L	probably damaging	Het
Frem1	T	G	4: 82,858,918 (GRCm39)	I1516L	probably benign	Het
Gatad2b	T	A	3: 90,258,724 (GRCm39)	I249N	probably damaging	Het
Grk6	T	C	13: 55,602,219 (GRCm39)	S383P	probably benign	Het
Hectd1	C	T	12: 51,874,134 (GRCm39)		probably null	Het
Hipk2	A	G	6: 38,795,579 (GRCm39)	L230P	probably damaging	Het
Hivep1	A	T	13: 42,310,814 (GRCm39)	Q1018L	probably benign	Het
Itgad	T	C	7: 127,797,550 (GRCm39)	F927S	probably benign	Het
Itgb3bp	A	G	4: 99,702,335 (GRCm39)	V3A	probably damaging	Het
Kcnh7	G	T	2: 62,618,031 (GRCm39)	A486D	possibly damaging	Het
Krt1c	T	C	15: 101,723,522 (GRCm39)	T318A	probably benign	Het
Ndrg1	A	G	15: 66,818,377 (GRCm39)	F77S	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nos1	T	A	5: 118,085,496 (GRCm39)	C1275S	probably damaging	Het
Or14a256	T	C	7: 86,264,900 (GRCm39)	S318G	probably null	Het
Or4a69	A	G	2: 89,313,458 (GRCm39)	V7A	possibly damaging	Het
Or5an9	T	C	19: 12,187,242 (GRCm39)	I104T	possibly damaging	Het
Or5j3	T	A	2: 86,128,564 (GRCm39)	S135T	probably benign	Het
Or8b12b	A	T	9: 37,684,437 (GRCm39)	N161Y	possibly damaging	Het
Pip4k2b	T	C	11: 97,623,542 (GRCm39)	M67V	possibly damaging	Het
Polq	C	A	16: 36,909,715 (GRCm39)	Y2366*	probably null	Het
Prg3	T	C	2: 84,819,097 (GRCm39)	S8P	probably benign	Het
Prl7c1	A	T	13: 27,962,952 (GRCm39)	L17*	probably null	Het
Prl8a8	A	T	13: 27,695,479 (GRCm39)	S51R	probably damaging	Het
Pttg1	G	C	11: 43,311,976 (GRCm39)	P160A	probably benign	Het
Rbfox1	C	A	16: 7,170,867 (GRCm39)	R276S	possibly damaging	Het
Rnase2a	T	G	14: 51,492,988 (GRCm39)	M126L	probably benign	Het
Secisbp2	A	T	13: 51,810,943 (GRCm39)	K202*	probably null	Het
Sema6c	A	G	3: 95,076,156 (GRCm39)	H236R	possibly damaging	Het
Septin12	A	G	16: 4,809,857 (GRCm39)	L181P	probably damaging	Het
Shc3	A	T	13: 51,585,241 (GRCm39)	V458D	possibly damaging	Het
Tecta	A	G	9: 42,278,239 (GRCm39)	Y1090H	probably benign	Het
Thsd7a	A	T	6: 12,379,429 (GRCm39)	N998K		Het
Tmem131l	A	T	3: 83,826,766 (GRCm39)	S1184T	possibly damaging	Het
Tnfsf15	T	C	4: 63,647,887 (GRCm39)	D251G	probably damaging	Het
Ttyh3	T	C	5: 140,615,540 (GRCm39)	E348G	probably benign	Het
Unc5c	T	C	3: 141,439,665 (GRCm39)	L186P	probably damaging	Het
Vmn2r37	A	T	7: 9,219,045 (GRCm39)	N446K	probably damaging	Het
Vmn2r63	T	C	7: 42,577,959 (GRCm39)	D193G	possibly damaging	Het
Vmn2r85	A	T	10: 130,262,376 (GRCm39)	M121K	probably benign	Het
Vmn2r88	A	G	14: 51,651,253 (GRCm39)	D189G		Het
Vwc2l	C	A	1: 70,768,252 (GRCm39)	C105*	probably null	Het
Wdr72	T	A	9: 74,055,597 (GRCm39)	D275E	probably damaging	Het
Zfhx4	A	T	3: 5,467,549 (GRCm39)	D2594V	probably damaging	Het
Zfp174	C	T	16: 3,672,269 (GRCm39)	H273Y	probably benign	Het
Zwilch	A	G	9: 64,068,658 (GRCm39)	S203P	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
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
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'- AAAGAGCAGTGGCCACTTTG -3'
(R):5'- AGTAGCTGGGACATATATGATCG -3'

Sequencing Primer
(F):5'- GCCACTTTGACAAAGAGCCGTG -3'
(R):5'- CTGGGACATATATGATCGGTGGAC -3'

Posted On

2019-05-15