Mutagenetix > Incidental Mutation

Incidental Mutation 'R9554:Or4a73'

720644

Institutional Source

Beutler Lab

Gene Symbol

Or4a73

Ensembl Gene

ENSMUSG00000111715

Gene Name

olfactory receptor family 4 subfamily A member 73

Synonyms

GA_x6K02T2Q125-51034790-51033846, Olfr1246, MOR231-9

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R9554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89420413-89421490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89420710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 250 (V250F)

Ref Sequence

ENSEMBL: ENSMUSP00000150876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000187990] [ENSMUST00000213221] [ENSMUST00000217192] [ENSMUST00000217254]

AlphaFold

Q7TQZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000187990
AA Change: V250F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140066
Gene: ENSMUSG00000111715
AA Change: V250F

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	2.7e-28	PFAM
Pfam:7tm_4	137	278	3.5e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213221
AA Change: V250F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217192
AA Change: V250F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217254
AA Change: V250F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,029,107 (GRCm39)	E817G	probably benign	Het
Abhd12b	A	G	12: 70,215,988 (GRCm39)	T182A	probably benign	Het
Allc	A	T	12: 28,607,414 (GRCm39)	C279*	probably null	Het
Ang	A	G	14: 51,338,976 (GRCm39)	D39G	probably damaging	Het
Atp8b3	G	A	10: 80,360,197 (GRCm39)	T958M	probably damaging	Het
Ccn4	G	A	15: 66,784,900 (GRCm39)	R191K	probably benign	Het
Ccnyl1	A	G	1: 64,753,750 (GRCm39)	Y187C	probably damaging	Het
Cfhr4	A	T	1: 139,668,169 (GRCm39)	S321R	probably benign	Het
Chd3	A	T	11: 69,251,015 (GRCm39)	W616R	probably damaging	Het
Cyp17a1	C	T	19: 46,657,165 (GRCm39)	R361H	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dcp1a	A	G	14: 30,201,691 (GRCm39)	Q38R	probably benign	Het
Ddias	T	C	7: 92,507,560 (GRCm39)	N785S	probably benign	Het
Depdc5	A	G	5: 33,122,076 (GRCm39)	N1133S	probably benign	Het
Dhx8	T	A	11: 101,645,614 (GRCm39)	Y877*	probably null	Het
Dlk1	G	A	12: 109,420,889 (GRCm39)	V15I	unknown	Het
Fam120b	G	A	17: 15,626,020 (GRCm39)	A458T	possibly damaging	Het
Fgd4	G	A	16: 16,308,353 (GRCm39)	T9I	probably benign	Het
Fhip1b	C	A	7: 105,038,915 (GRCm39)	R108L	probably damaging	Het
Gfpt1	C	T	6: 87,062,323 (GRCm39)	R561W	probably damaging	Het
Gm5773	A	G	3: 93,680,340 (GRCm39)	D4G	probably benign	Het
Helz2	T	A	2: 180,882,470 (GRCm39)	T108S	probably damaging	Het
Hivep1	G	A	13: 42,308,251 (GRCm39)	D164N	possibly damaging	Het
Kif15	G	T	9: 122,828,585 (GRCm39)	L902F	probably damaging	Het
Lrp2	T	A	2: 69,261,497 (GRCm39)	R4481S	probably damaging	Het
Mcm3ap	T	C	10: 76,332,310 (GRCm39)	V1209A	probably damaging	Het
Mkrn1	C	T	6: 39,376,838 (GRCm39)	R377H	probably benign	Het
Ms4a4a	G	A	19: 11,367,708 (GRCm39)	M191I	probably benign	Het
Myh11	T	A	16: 14,018,580 (GRCm39)	N1922I		Het
Nbeal1	C	T	1: 60,290,287 (GRCm39)	Q998*	probably null	Het
Neil3	C	A	8: 54,061,770 (GRCm39)	G204C	probably damaging	Het
Nsmce1	T	C	7: 125,066,994 (GRCm39)	E262G	possibly damaging	Het
Oc90	G	A	15: 65,761,437 (GRCm39)	P194S	probably benign	Het
Oplah	A	G	15: 76,193,787 (GRCm39)	S57P	probably benign	Het
Or10u4	A	T	10: 129,802,181 (GRCm39)	F123L	probably benign	Het
Or1x6	T	A	11: 50,939,223 (GRCm39)	Y96*	probably null	Het
Or2aj4	T	A	16: 19,384,722 (GRCm39)	I304F	possibly damaging	Het
Or4d5	T	A	9: 40,012,160 (GRCm39)	M209L	probably benign	Het
Or51g1	A	T	7: 102,633,774 (GRCm39)	I199N	probably damaging	Het
Or5p70	A	G	7: 107,994,365 (GRCm39)	T13A	probably benign	Het
Or8g28	A	C	9: 39,169,756 (GRCm39)	F71V	possibly damaging	Het
Pdzd8	A	T	19: 59,333,574 (GRCm39)	L149Q	probably damaging	Het
Pid1	A	G	1: 84,137,032 (GRCm39)	V33A	probably benign	Het
Polr3gl	A	G	3: 96,489,037 (GRCm39)	V60A	possibly damaging	Het
Prdm1	A	G	10: 44,317,242 (GRCm39)	V527A	probably benign	Het
Sbf2	T	C	7: 110,040,671 (GRCm39)	I385M	probably damaging	Het
Setbp1	C	T	18: 78,826,599 (GRCm39)	S1338N	probably benign	Het
Sh2b2	T	C	5: 136,253,006 (GRCm39)	T389A	probably benign	Het
Skint9	A	T	4: 112,248,915 (GRCm39)	M171K	probably benign	Het
Slx4	C	A	16: 3,805,820 (GRCm39)	M577I	probably benign	Het
Srcap	T	C	7: 127,151,577 (GRCm39)	S2092P	probably damaging	Het
Traf6	T	A	2: 101,518,953 (GRCm39)	H147Q	probably benign	Het
Ttn	T	A	2: 76,547,693 (GRCm39)	E32159V	possibly damaging	Het
Ubn1	T	C	16: 4,888,492 (GRCm39)	S154P	unknown	Het
Uchl1	T	A	5: 66,833,649 (GRCm39)	M6K	probably damaging	Het
Vmn1r193	A	T	13: 22,403,989 (GRCm39)	M1K	probably null	Het
Zfp429	T	A	13: 67,538,531 (GRCm39)	K304N	probably benign	Het
Zfp607b	T	A	7: 27,402,464 (GRCm39)	S307T	probably damaging	Het

Other mutations in Or4a73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02140:Or4a73	APN	2	89,420,586 (GRCm39)	missense	probably damaging	1.00
IGL02184:Or4a73	APN	2	89,420,637 (GRCm39)	missense	probably damaging	0.99
IGL03383:Or4a73	APN	2	89,420,656 (GRCm39)	missense	probably benign	0.24
PIT4283001:Or4a73	UTSW	2	89,420,572 (GRCm39)	missense	probably benign	0.01
R0453:Or4a73	UTSW	2	89,421,095 (GRCm39)	nonsense	probably null
R1614:Or4a73	UTSW	2	89,421,040 (GRCm39)	missense	possibly damaging	0.76
R2310:Or4a73	UTSW	2	89,420,794 (GRCm39)	missense	probably damaging	0.99
R2436:Or4a73	UTSW	2	89,421,117 (GRCm39)	missense	probably benign	0.42
R3683:Or4a73	UTSW	2	89,421,099 (GRCm39)	missense	probably damaging	0.96
R3685:Or4a73	UTSW	2	89,421,099 (GRCm39)	missense	probably damaging	0.96
R4037:Or4a73	UTSW	2	89,421,379 (GRCm39)	missense	probably benign	0.02
R5219:Or4a73	UTSW	2	89,421,046 (GRCm39)	missense	probably benign	0.03
R5350:Or4a73	UTSW	2	89,421,432 (GRCm39)	missense	possibly damaging	0.59
R5383:Or4a73	UTSW	2	89,421,457 (GRCm39)	start codon destroyed	probably null	0.91
R5639:Or4a73	UTSW	2	89,421,069 (GRCm39)	missense	probably damaging	1.00
R5927:Or4a73	UTSW	2	89,421,444 (GRCm39)	missense	possibly damaging	0.93
R6056:Or4a73	UTSW	2	89,421,445 (GRCm39)	missense	possibly damaging	0.93
R6177:Or4a73	UTSW	2	89,420,661 (GRCm39)	missense	possibly damaging	0.78
R7351:Or4a73	UTSW	2	89,420,857 (GRCm39)	missense	probably benign	0.32
R7496:Or4a73	UTSW	2	89,421,040 (GRCm39)	missense	probably benign	0.05
R7583:Or4a73	UTSW	2	89,421,095 (GRCm39)	nonsense	probably null
R7973:Or4a73	UTSW	2	89,421,331 (GRCm39)	missense	probably damaging	1.00
R8770:Or4a73	UTSW	2	89,421,171 (GRCm39)	missense	probably benign	0.16
R8813:Or4a73	UTSW	2	89,420,730 (GRCm39)	missense	probably benign	0.18
R8821:Or4a73	UTSW	2	89,420,880 (GRCm39)	missense	probably damaging	0.98
R9037:Or4a73	UTSW	2	89,421,051 (GRCm39)	missense	probably benign	0.02
R9062:Or4a73	UTSW	2	89,420,923 (GRCm39)	missense	probably benign	0.01
R9262:Or4a73	UTSW	2	89,421,435 (GRCm39)	missense	probably damaging	0.99
R9623:Or4a73	UTSW	2	89,421,261 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTATCCATAGTTAACAGTGTACACCAG -3'
(R):5'- TTATGTGTGACATGTCCCCATTATTGG -3'

Sequencing Primer
(F):5'- CAGTGTACACCAGAGTTTTTGC -3'
(R):5'- GGACTTGTGTGCACTGACAC -3'

Posted On

2022-08-09