Mutagenetix > Incidental Mutation

Incidental Mutation 'R5533:Or5p73'

433752

Institutional Source

Beutler Lab

Gene Symbol

Or5p73

Ensembl Gene

ENSMUSG00000096679

Gene Name

olfactory receptor family 5 subfamily P member 73

Synonyms

MOR204-36, Olfr498, GA_x6K02T2PBJ9-10795522-10796514

MMRRC Submission

043091-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5533 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108064533-108065525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108065469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 313 (F313L)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000217616]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000074787
AA Change: F313L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000074343
Gene: ENSMUSG00000096679
AA Change: F313L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.7e-51	PFAM
Pfam:7tm_1	44	293	5.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217616
AA Change: F313L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 98.4%
3x: 97.1%
10x: 94.5%
20x: 88.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,918,911 (GRCm39)	E429G	probably damaging	Het
Akap12	T	A	10: 4,307,405 (GRCm39)	V1405D	probably damaging	Het
Akap7	C	T	10: 25,159,880 (GRCm39)	D107N	possibly damaging	Het
Arfgef1	A	G	1: 10,269,952 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,026,113 (GRCm39)		probably null	Het
Ctsd	T	C	7: 141,931,070 (GRCm39)	Q274R	probably benign	Het
Dysf	G	A	6: 84,163,453 (GRCm39)	R1575Q	probably damaging	Het
Erich6b	A	T	14: 75,896,274 (GRCm39)	L53F	possibly damaging	Het
Exoc6	A	C	19: 37,582,218 (GRCm39)		probably null	Het
Fbxw19	A	T	9: 109,315,133 (GRCm39)	V143E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fndc1	A	G	17: 7,991,608 (GRCm39)	F696S	unknown	Het
Foxa3	G	T	7: 18,748,940 (GRCm39)	Y102*	probably null	Het
Foxn1	A	G	11: 78,256,792 (GRCm39)	M301T	probably damaging	Het
Foxp2	C	T	6: 15,197,119 (GRCm39)	Q54*	probably null	Het
Glra1	T	C	11: 55,423,208 (GRCm39)	E117G	possibly damaging	Het
Glt1d1	A	T	5: 127,768,095 (GRCm39)	D234V	probably damaging	Het
Golm2	AGATGGTGATGGTG	AGATGGTG	2: 121,756,178 (GRCm39)		probably benign	Het
Gulp1	T	C	1: 44,812,441 (GRCm39)	I137T	probably damaging	Het
Itga8	A	G	2: 12,165,161 (GRCm39)	V816A	possibly damaging	Het
Kdm4c	G	A	4: 74,233,886 (GRCm39)		probably benign	Het
Krtap19-2	A	G	16: 88,670,996 (GRCm39)		probably benign	Het
Lcorl	T	C	5: 45,891,219 (GRCm39)	N378S	possibly damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mocos	T	C	18: 24,807,357 (GRCm39)	L363P	probably damaging	Het
Mycbp2	G	T	14: 103,520,081 (GRCm39)	Y745*	probably null	Het
Nav3	A	C	10: 109,719,539 (GRCm39)	N141K	possibly damaging	Het
Ncor1	T	C	11: 62,233,837 (GRCm39)	N779S	probably benign	Het
Nebl	G	T	2: 17,398,079 (GRCm39)	Y414*	probably null	Het
Nf1	T	G	11: 79,336,615 (GRCm39)	C1065G	probably damaging	Het
Nfib	A	G	4: 82,278,004 (GRCm39)	V216A	probably damaging	Het
Nub1	A	T	5: 24,907,379 (GRCm39)	N354I	possibly damaging	Het
Nyap1	C	T	5: 137,733,726 (GRCm39)	V436I	probably benign	Het
Or5m11b	A	G	2: 85,805,797 (GRCm39)	D70G	possibly damaging	Het
Pde2a	T	A	7: 101,155,187 (GRCm39)	M570K	probably damaging	Het
Pfas	T	C	11: 68,882,296 (GRCm39)	S856G	probably benign	Het
Pkd1l2	T	C	8: 117,794,855 (GRCm39)	E368G	probably benign	Het
Ptf1a	G	A	2: 19,451,969 (GRCm39)	V323M	probably damaging	Het
Ptprh	T	C	7: 4,552,504 (GRCm39)	Y920C	probably damaging	Het
Sergef	T	A	7: 46,264,200 (GRCm39)	D229V	possibly damaging	Het
Slc1a4	T	C	11: 20,254,417 (GRCm39)	K483R	probably benign	Het
Slc26a6	G	A	9: 108,735,155 (GRCm39)	R351H	probably damaging	Het
Slc6a19	G	A	13: 73,833,948 (GRCm39)	T370I	possibly damaging	Het
Smpd5	T	C	15: 76,178,757 (GRCm39)	S42P	possibly damaging	Het
Snx13	G	A	12: 35,173,025 (GRCm39)		probably null	Het
Sox10	G	A	15: 79,040,502 (GRCm39)	S185L	probably benign	Het
Spata31e5	T	A	1: 28,817,163 (GRCm39)	I290F	probably damaging	Het
Srpk1	T	C	17: 28,821,733 (GRCm39)	Y227C	probably damaging	Het
Stambpl1	T	A	19: 34,211,316 (GRCm39)		probably null	Het
Stk36	A	G	1: 74,665,750 (GRCm39)	R698G	possibly damaging	Het
Tas2r122	T	A	6: 132,688,393 (GRCm39)	T167S	probably damaging	Het
Tlr12	A	G	4: 128,509,656 (GRCm39)	S865P	probably damaging	Het
Trp53bp1	A	G	2: 121,038,227 (GRCm39)	L1537P	probably damaging	Het
Vstm2a	C	A	11: 16,213,125 (GRCm39)	T170K	possibly damaging	Het
Xpo7	A	T	14: 70,931,407 (GRCm39)	F304I	probably damaging	Het
Zfp286	T	C	11: 62,671,796 (GRCm39)		probably benign	Het
Zfp985	A	T	4: 147,667,440 (GRCm39)	K103*	probably null	Het

Other mutations in Or5p73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03232:Or5p73	APN	7	108,064,812 (GRCm39)	missense	probably benign	0.06
IGL03348:Or5p73	APN	7	108,064,615 (GRCm39)	missense	probably benign
IGL03408:Or5p73	APN	7	108,064,554 (GRCm39)	missense	probably damaging	1.00
IGL03047:Or5p73	UTSW	7	108,064,983 (GRCm39)	missense	probably damaging	0.97
R0208:Or5p73	UTSW	7	108,064,750 (GRCm39)	missense	probably damaging	1.00
R0363:Or5p73	UTSW	7	108,064,941 (GRCm39)	missense	possibly damaging	0.81
R1481:Or5p73	UTSW	7	108,065,167 (GRCm39)	missense	probably benign	0.00
R1886:Or5p73	UTSW	7	108,064,947 (GRCm39)	missense	probably benign	0.39
R2065:Or5p73	UTSW	7	108,064,875 (GRCm39)	missense	possibly damaging	0.69
R2103:Or5p73	UTSW	7	108,064,810 (GRCm39)	missense	probably benign	0.03
R3731:Or5p73	UTSW	7	108,064,633 (GRCm39)	missense	possibly damaging	0.88
R4763:Or5p73	UTSW	7	108,065,393 (GRCm39)	missense	probably benign	0.34
R4839:Or5p73	UTSW	7	108,064,938 (GRCm39)	missense	probably benign	0.03
R4997:Or5p73	UTSW	7	108,064,701 (GRCm39)	missense	probably benign	0.01
R7286:Or5p73	UTSW	7	108,064,642 (GRCm39)	missense	possibly damaging	0.52
R7910:Or5p73	UTSW	7	108,064,978 (GRCm39)	missense	probably benign	0.01
R8005:Or5p73	UTSW	7	108,064,693 (GRCm39)	missense	probably benign	0.01
R8487:Or5p73	UTSW	7	108,064,784 (GRCm39)	missense	possibly damaging	0.69
R8976:Or5p73	UTSW	7	108,064,630 (GRCm39)	missense	possibly damaging	0.87
R9097:Or5p73	UTSW	7	108,064,815 (GRCm39)	missense	probably damaging	1.00
Z1088:Or5p73	UTSW	7	108,064,578 (GRCm39)	missense	probably benign
Z1176:Or5p73	UTSW	7	108,064,578 (GRCm39)	missense	probably benign
Z1177:Or5p73	UTSW	7	108,065,228 (GRCm39)	missense	probably benign	0.08
Z1177:Or5p73	UTSW	7	108,064,578 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACTGCAGTTATTCTGTTCTATGG -3'
(R):5'- GCTGCACATGATCAAAATACATTGC -3'

Sequencing Primer
(F):5'- GACCAGAACAAGGTGTTG -3'
(R):5'- GTATCTATGTGTACTGGGAGA -3'

Posted On

2016-10-06