Mutagenetix > Incidental Mutation

Incidental Mutation 'R8770:Or4a73'

664325

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

068625-MU

Accession Numbers

Essential gene?

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

Stock #

R8770 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89420413-89421490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89421171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 96 (M96T)

Ref Sequence

ENSEMBL: ENSMUSP00000150876 (fasta)

Gene Model

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

AlphaFold

Q7TQZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000187990
AA Change: M96T

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140066
Gene: ENSMUSG00000111715
AA Change: M96T

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 benign
Transcript: ENSMUST00000213221
AA Change: M96T

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000217192
AA Change: M96T

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000217254
AA Change: M96T

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	C	17: 14,104,199 (GRCm39)		probably null	Het
Aox1	A	T	1: 58,378,763 (GRCm39)	K1004M	probably benign	Het
Atn1	C	T	6: 124,722,601 (GRCm39)		probably null	Het
Atp8b4	T	C	2: 126,184,915 (GRCm39)	Y916C	probably damaging	Het
Bicd1	T	C	6: 149,420,448 (GRCm39)	L766S	probably damaging	Het
Bmpr2	T	G	1: 59,884,684 (GRCm39)	D223E	probably benign	Het
Bpifc	T	G	10: 85,801,129 (GRCm39)	R406S	probably damaging	Het
Ccl6	A	G	11: 83,479,658 (GRCm39)	I115T	possibly damaging	Het
Cdcp1	A	T	9: 123,006,926 (GRCm39)	I607N	possibly damaging	Het
Cdyl2	T	C	8: 117,321,822 (GRCm39)	Y235C	probably damaging	Het
Clns1a	A	G	7: 97,363,117 (GRCm39)	Q163R	probably benign	Het
Cntn3	T	A	6: 102,254,277 (GRCm39)	M222L	possibly damaging	Het
Cpn1	A	G	19: 43,952,208 (GRCm39)	V358A	probably damaging	Het
Dchs1	G	A	7: 105,420,945 (GRCm39)	R492W	probably damaging	Het
Dmxl2	T	C	9: 54,311,298 (GRCm39)	T1808A	probably benign	Het
Dnah10	A	G	5: 124,852,410 (GRCm39)	I1880V	possibly damaging	Het
Dnai3	T	C	3: 145,752,298 (GRCm39)	T793A	probably benign	Het
Dscam	T	C	16: 96,456,106 (GRCm39)	E1274G	possibly damaging	Het
Dtwd1	A	G	2: 125,996,727 (GRCm39)	T71A	probably damaging	Het
Dusp4	T	A	8: 35,274,938 (GRCm39)	M19K	probably benign	Het
Fbxo39	T	C	11: 72,209,285 (GRCm39)	F382L	probably damaging	Het
Fbxw20	A	T	9: 109,046,596 (GRCm39)	C455S	probably benign	Het
Fcmr	T	A	1: 130,803,799 (GRCm39)	V201E	probably benign	Het
Galnt2	C	T	8: 125,061,025 (GRCm39)	R306*	probably null	Het
Gpr156	A	G	16: 37,824,974 (GRCm39)	E397G	possibly damaging	Het
Gzmf	A	T	14: 56,443,951 (GRCm39)	V73D	probably damaging	Het
Hrob	A	G	11: 102,145,976 (GRCm39)	N84S	probably benign	Het
Laptm4b	T	C	15: 34,258,843 (GRCm39)	V39A	possibly damaging	Het
Mlf2	C	A	6: 124,911,259 (GRCm39)	H91Q	probably benign	Het
Mylk3	T	A	8: 86,091,460 (GRCm39)	E115V	probably damaging	Het
Myo6	A	G	9: 80,171,481 (GRCm39)	E494G	unknown	Het
Myo7b	C	T	18: 32,114,124 (GRCm39)	D1076N	probably benign	Het
Neurl1b	A	G	17: 26,650,887 (GRCm39)	D53G	probably damaging	Het
Noc4l	A	G	5: 110,796,758 (GRCm39)	L508P	possibly damaging	Het
Nup210l	C	A	3: 90,025,850 (GRCm39)	F157L	probably damaging	Het
Ogdh	T	C	11: 6,305,336 (GRCm39)	Y959H	probably damaging	Het
Or13c7d	T	G	4: 43,770,813 (GRCm39)	N66T	probably damaging	Het
Pik3ap1	A	G	19: 41,316,599 (GRCm39)	Y264H	possibly damaging	Het
Plb1	T	C	5: 32,404,853 (GRCm39)	Y4H	unknown	Het
Rad21	A	G	15: 51,831,749 (GRCm39)	I444T	probably benign	Het
Recql5	T	C	11: 115,787,943 (GRCm39)	I459V	probably benign	Het
Scaf1	T	C	7: 44,656,129 (GRCm39)	T917A	unknown	Het
Sdc4	C	T	2: 164,270,822 (GRCm39)	V146I	probably damaging	Het
Serpina6	T	C	12: 103,620,198 (GRCm39)	S184G	probably benign	Het
Shkbp1	C	A	7: 27,051,311 (GRCm39)	R218S	possibly damaging	Het
Slc17a3	A	G	13: 24,039,607 (GRCm39)	D255G		Het
Slc7a2	T	G	8: 41,352,267 (GRCm39)	V110G	probably damaging	Het
Slf1	A	C	13: 77,194,766 (GRCm39)	V853G	probably damaging	Het
Smarcad1	T	C	6: 65,029,718 (GRCm39)	V102A	probably benign	Het
Sobp	T	C	10: 43,036,788 (GRCm39)	K50R	probably damaging	Het
Spink10	A	T	18: 62,786,532 (GRCm39)	R47S	probably benign	Het
Sspo	T	A	6: 48,451,206 (GRCm39)	F2720Y	probably null	Het
Tdrkh	T	A	3: 94,336,440 (GRCm39)	V459D	probably damaging	Het
Tent5a	A	G	9: 85,208,803 (GRCm39)	Y7H	probably benign	Het
Tlcd2	T	A	11: 75,360,630 (GRCm39)	D224E	probably damaging	Het
Tln2	T	A	9: 67,230,304 (GRCm39)	Q87L	probably benign	Het
Tmem131	A	T	1: 36,838,186 (GRCm39)		probably benign	Het
Tmem63a	G	A	1: 180,789,961 (GRCm39)	G378R	probably benign	Het
Trank1	C	A	9: 111,219,892 (GRCm39)	Q2210K	probably benign	Het
Trim24	T	A	6: 37,934,435 (GRCm39)		probably benign	Het
Trim37	T	A	11: 87,050,675 (GRCm39)	I238N	probably damaging	Het
Vps39	A	T	2: 120,153,548 (GRCm39)	D675E	probably benign	Het
Zfp229	T	A	17: 21,964,795 (GRCm39)	C342S	probably damaging	Het
Zfp759	A	G	13: 67,288,417 (GRCm39)	H656R	probably damaging	Het
Zfp994	T	C	17: 22,419,980 (GRCm39)	Y323C	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
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
R9554:Or4a73	UTSW	2	89,420,710 (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'- GTGTGTAAAACCTCCAACCCAG -3'
(R):5'- CTTTTGGGGCTCACTCAGGATC -3'

Sequencing Primer
(F):5'- TGTAAAACCTCCAACCCAGGAAAATC -3'
(R):5'- TCACTCAGGATCCTGCAGGTC -3'

Posted On

2021-03-08