Mutagenetix > Incidental Mutation

Incidental Mutation 'R9623:Or4a73'

724926

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 #

R9623 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89420413-89421490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89421261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 66 (F66S)

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: F66S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000140066
Gene: ENSMUSG00000111715
AA Change: F66S

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: F66S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000217192
AA Change: F66S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000217254
AA Change: F66S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	T	7: 119,181,975 (GRCm39)	Y408F	probably benign	Het
Adamts9	G	T	6: 92,857,661 (GRCm39)	P876T	probably benign	Het
Afap1l2	T	A	19: 56,906,462 (GRCm39)	D479V	probably damaging	Het
Aire	T	C	10: 77,873,809 (GRCm39)	E300G	probably damaging	Het
Ampd3	A	G	7: 110,402,307 (GRCm39)	E428G	probably damaging	Het
Apaf1	A	T	10: 90,913,463 (GRCm39)	Y153*	probably null	Het
Arhgap10	T	C	8: 77,985,786 (GRCm39)	T694A	probably benign	Het
Arhgef39	A	G	4: 43,496,819 (GRCm39)		probably null	Het
Arhgef5	T	C	6: 43,251,736 (GRCm39)	V829A	possibly damaging	Het
Arrdc4	A	G	7: 68,390,741 (GRCm39)	M333T		Het
Boc	G	T	16: 44,322,018 (GRCm39)	R215S		Het
Capn2	G	A	1: 182,344,795 (GRCm39)	A42V	probably benign	Het
Ccdc136	T	A	6: 29,405,939 (GRCm39)	M95K	probably benign	Het
Ccdc183	A	T	2: 25,499,520 (GRCm39)	Y438N	probably benign	Het
Ccnf	C	A	17: 24,468,367 (GRCm39)	R10M	probably damaging	Het
Cd19	A	G	7: 126,011,284 (GRCm39)	F300S	probably damaging	Het
Cdkl3	G	T	11: 51,895,816 (GRCm39)	C21F	probably damaging	Het
Celf2	C	T	2: 6,620,522 (GRCm39)	R183Q	probably damaging	Het
Clca3a1	T	G	3: 144,719,698 (GRCm39)	D424A	probably benign	Het
Clec3a	A	G	8: 115,144,887 (GRCm39)	D21G	probably benign	Het
Clec4e	T	C	6: 123,263,306 (GRCm39)	N78S	probably benign	Het
Clpb	A	T	7: 101,313,399 (GRCm39)	S128C	possibly damaging	Het
Cntnap5a	T	A	1: 116,369,985 (GRCm39)	Y867*	probably null	Het
Dgkg	G	C	16: 22,385,194 (GRCm39)	N437K		Het
Dnhd1	A	G	7: 105,335,773 (GRCm39)	E1139G	probably damaging	Het
Dnhd1	G	A	7: 105,344,134 (GRCm39)	R1826H	probably damaging	Het
Etl4	A	G	2: 20,811,052 (GRCm39)	H1413R		Het
Fibp	T	A	19: 5,513,850 (GRCm39)	V271D	possibly damaging	Het
Gabra4	G	T	5: 71,791,023 (GRCm39)	T273K	probably damaging	Het
Gan	G	A	8: 117,914,219 (GRCm39)	D206N	probably damaging	Het
Gstz1	A	T	12: 87,206,923 (GRCm39)	I106F	probably damaging	Het
Hivep2	T	G	10: 14,006,546 (GRCm39)	L1048R	probably damaging	Het
Htr6	A	T	4: 138,801,750 (GRCm39)	M108K	probably damaging	Het
Hycc1	A	C	5: 24,170,255 (GRCm39)	S365A	probably benign	Het
Itgad	A	G	7: 127,803,723 (GRCm39)	E1134G	probably damaging	Het
Lrp1b	C	T	2: 41,366,648 (GRCm39)	G657S		Het
Lrp2	T	C	2: 69,307,423 (GRCm39)	I2879V	probably benign	Het
Lyst	G	T	13: 13,852,587 (GRCm39)	V2196L	probably benign	Het
Mettl5	T	A	2: 69,711,717 (GRCm39)	I50F	possibly damaging	Het
Mmadhc	A	G	2: 50,186,341 (GRCm39)		probably benign	Het
Msantd1	G	A	5: 35,075,076 (GRCm39)	W46*	probably null	Het
Mto1	T	C	9: 78,364,712 (GRCm39)	I317T	probably damaging	Het
Myef2	T	G	2: 124,957,377 (GRCm39)	D126A	probably damaging	Het
Net1	A	G	13: 3,937,569 (GRCm39)		probably null	Het
Nnmt	A	T	9: 48,503,660 (GRCm39)	M122K	probably benign	Het
Nos1	A	G	5: 118,087,849 (GRCm39)	K1371E	probably benign	Het
Nrcam	G	C	12: 44,636,931 (GRCm39)	W1121C	probably damaging	Het
Nt5c2	A	G	19: 46,877,409 (GRCm39)	S511P		Het
Or10w1	C	A	19: 13,632,414 (GRCm39)	A207E	probably damaging	Het
Or1j17	G	T	2: 36,578,778 (GRCm39)	V255F	probably benign	Het
Or2k2	T	C	4: 58,785,585 (GRCm39)	I46V	possibly damaging	Het
P2rx7	A	G	5: 122,790,860 (GRCm39)	K66E	probably damaging	Het
Paqr4	A	G	17: 23,956,656 (GRCm39)	W236R	probably damaging	Het
Parm1	A	G	5: 91,760,923 (GRCm39)	Y265C	probably damaging	Het
Pcbp2	T	C	15: 102,392,628 (GRCm39)	Y178H	probably damaging	Het
Pidd1	G	A	7: 141,021,678 (GRCm39)	P261S	probably damaging	Het
Pik3r6	T	C	11: 68,442,159 (GRCm39)	V705A	possibly damaging	Het
Pla2g15	G	T	8: 106,887,275 (GRCm39)	V156F	possibly damaging	Het
Prpf6	G	A	2: 181,289,137 (GRCm39)	V609M	possibly damaging	Het
Resf1	A	G	6: 149,226,965 (GRCm39)	N4D	possibly damaging	Het
Rprd2	A	G	3: 95,679,505 (GRCm39)	V491A	probably benign	Het
Rtp3	T	A	9: 110,818,600 (GRCm39)	H27L	probably damaging	Het
Sema5b	G	A	16: 35,443,121 (GRCm39)	R42Q	possibly damaging	Het
Serpina3f	A	G	12: 104,183,743 (GRCm39)	K202E	probably damaging	Het
Slc25a33	T	G	4: 149,833,767 (GRCm39)	M168L	probably benign	Het
Slc7a8	A	G	14: 54,964,341 (GRCm39)	C371R	probably damaging	Het
Smyd1	T	C	6: 71,192,808 (GRCm39)	N467S	probably benign	Het
Sptbn4	A	G	7: 27,107,807 (GRCm39)	W872R	probably damaging	Het
Syne1	A	T	10: 5,152,009 (GRCm39)	I5766N	probably damaging	Het
Syne2	A	G	12: 75,986,760 (GRCm39)	S1699G	probably benign	Het
Synpo2	T	C	3: 122,908,047 (GRCm39)	D423G	possibly damaging	Het
Tcf19	A	T	17: 35,825,792 (GRCm39)	F122I	probably damaging	Het
Tdpoz4	A	T	3: 93,704,221 (GRCm39)	T173S	probably benign	Het
Trappc8	T	A	18: 20,983,975 (GRCm39)	H681L	possibly damaging	Het
Trim36	A	G	18: 46,308,623 (GRCm39)	F413S	probably benign	Het
Tsks	A	G	7: 44,605,931 (GRCm39)	T466A	possibly damaging	Het
Ubr1	T	C	2: 120,764,820 (GRCm39)	I545V	probably benign	Het
Ubr4	A	G	4: 139,159,024 (GRCm39)	E1170G	probably benign	Het
Usp29	A	G	7: 6,964,396 (GRCm39)	R80G	possibly damaging	Het
Utrn	C	T	10: 12,282,225 (GRCm39)	R3258H	probably damaging	Het
Vmn1r13	T	G	6: 57,187,549 (GRCm39)	V236G	probably benign	Het
Vmn1r33	T	A	6: 66,589,002 (GRCm39)	D184V	probably damaging	Het
Vmn2r87	T	C	10: 130,315,794 (GRCm39)	N91D	probably damaging	Het
Wrn	A	G	8: 33,774,644 (GRCm39)		probably null	Het
Zan	G	A	5: 137,461,636 (GRCm39)	P1181L	unknown	Het
Zbtb47	C	A	9: 121,591,990 (GRCm39)	Y103*	probably null	Het
Zfc3h1	C	A	10: 115,259,362 (GRCm39)	L1645I	possibly damaging	Het
Zfhx2	G	T	14: 55,302,191 (GRCm39)	P1931Q	probably damaging	Het
Zfp352	A	G	4: 90,113,128 (GRCm39)	K423E	probably benign	Het
Zfp574	T	A	7: 24,780,515 (GRCm39)	H512Q		Het
Zfp7	G	A	15: 76,774,531 (GRCm39)	R191H	probably benign	Het
Zfp771	A	T	7: 126,844,301 (GRCm39)	K46*	probably null	Het
Zkscan8	T	C	13: 21,704,763 (GRCm39)	E392G	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
R9554:Or4a73	UTSW	2	89,420,710 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTTTACAGATTGCCACATAGCG -3'
(R):5'- TAACAGCCCAGTGAAAGGTTC -3'

Sequencing Primer
(F):5'- TAGCGATCATAGGCCATTGC -3'
(R):5'- CAATGTCACAGAATTTGTCCTTTTGG -3'

Posted On

2022-09-12