Mutagenetix > Incidental Mutation

Incidental Mutation 'R7351:Or4a73'

570554

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

045437-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R7351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89420413-89421490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89420857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 201 (G201S)

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: G201S

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140066
Gene: ENSMUSG00000111715
AA Change: G201S

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: G201S

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000217192
AA Change: G201S

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000217254
AA Change: G201S

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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
1700006A11Rik	C	A	3: 124,206,159 (GRCm39)	G343V	probably damaging	Het
Adamts6	G	A	13: 104,526,620 (GRCm39)	S516N	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Arhgef37	T	A	18: 61,631,286 (GRCm39)	L566F	possibly damaging	Het
AU040320	A	G	4: 126,710,237 (GRCm39)	N328D	probably damaging	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Brk1	T	C	6: 113,592,742 (GRCm39)	S42P	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Cenpo	A	T	12: 4,266,581 (GRCm39)	F176I	probably damaging	Het
Cfap97d1	A	G	11: 101,882,331 (GRCm39)	E163G	probably benign	Het
Clec12b	A	G	6: 129,356,874 (GRCm39)		probably null	Het
Ddx42	A	G	11: 106,138,508 (GRCm39)	N769S	probably benign	Het
Drc7	A	G	8: 95,785,135 (GRCm39)	D165G	probably benign	Het
Dync2h1	A	T	9: 7,167,145 (GRCm39)	I486N	probably damaging	Het
Gmip	A	G	8: 70,270,034 (GRCm39)	D679G	probably benign	Het
Gml2	T	C	15: 74,693,225 (GRCm39)	V76A	possibly damaging	Het
Gpr26	T	C	7: 131,576,094 (GRCm39)	C253R	probably damaging	Het
H2-Q4	A	G	17: 35,601,854 (GRCm39)	T239A	possibly damaging	Het
Hmcn1	T	A	1: 150,543,640 (GRCm39)	Y2845F	probably damaging	Het
Ift172	A	G	5: 31,433,240 (GRCm39)	Y550H	probably damaging	Het
Irgm2	G	A	11: 58,110,431 (GRCm39)	V41M	possibly damaging	Het
Lrp2	C	T	2: 69,278,486 (GRCm39)	G3956R	probably damaging	Het
Matn2	G	A	15: 34,345,482 (GRCm39)	R163H	probably damaging	Het
Mxd1	A	G	6: 86,628,448 (GRCm39)	S151P	probably damaging	Het
Or10ak16	T	C	4: 118,751,033 (GRCm39)	V251A	probably benign	Het
Or5m10b	G	T	2: 85,694,415 (GRCm39)		probably benign	Het
Or8b3	C	T	9: 38,314,739 (GRCm39)	L190F	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plcg2	A	G	8: 118,317,049 (GRCm39)	E642G	possibly damaging	Het
Pramel6	T	A	2: 87,340,672 (GRCm39)	F335I	probably benign	Het
Psd	G	T	19: 46,310,869 (GRCm39)	S393R	probably benign	Het
Pwwp2a	A	G	11: 43,573,107 (GRCm39)	D63G	probably benign	Het
Rbm28	T	C	6: 29,158,879 (GRCm39)	T139A	probably benign	Het
Ripk2	T	G	4: 16,155,048 (GRCm39)	E157A	probably damaging	Het
Rnf145	G	A	11: 44,439,623 (GRCm39)	V140I	possibly damaging	Het
Rnf38	T	C	4: 44,149,102 (GRCm39)	N114D	probably benign	Het
Samd9l	G	A	6: 3,374,157 (GRCm39)	R1035C	probably benign	Het
Sec14l3	A	G	11: 4,024,785 (GRCm39)	T245A	probably benign	Het
Serpina10	A	T	12: 103,595,194 (GRCm39)	F8L	probably benign	Het
Slc16a8	T	A	15: 79,137,841 (GRCm39)	D56V	probably damaging	Het
Spag9	A	T	11: 93,983,802 (GRCm39)	E726D	probably benign	Het
Spg11	A	G	2: 121,900,412 (GRCm39)	F1547L	possibly damaging	Het
Sspo	T	C	6: 48,441,855 (GRCm39)	I1955T	possibly damaging	Het
Stx18	T	A	5: 38,196,755 (GRCm39)	V27E	probably benign	Het
Taf1c	A	G	8: 120,325,739 (GRCm39)	S708P	probably damaging	Het
Tas2r126	T	C	6: 42,412,240 (GRCm39)	F258L	probably benign	Het
Tdpoz2	C	T	3: 93,559,900 (GRCm39)	W24*	probably null	Het
Tmc8	T	C	11: 117,674,654 (GRCm39)	L123P	probably damaging	Het
Trmo	A	T	4: 46,387,716 (GRCm39)	Y35N	possibly damaging	Het
Ttn	C	T	2: 76,598,030 (GRCm39)	V19628I	possibly damaging	Het
Ttn	G	A	2: 76,770,274 (GRCm39)	A2685V	unknown	Het
Usp15	A	T	10: 122,968,904 (GRCm39)	M349K	probably damaging	Het
Vmn2r89	A	G	14: 51,693,739 (GRCm39)	N363S	probably benign	Het
Vwa3a	T	A	7: 120,375,559 (GRCm39)	I423N	probably damaging	Het
Zfp592	T	C	7: 80,691,439 (GRCm39)	V1206A	probably benign	Het
Zfp866	A	T	8: 70,218,547 (GRCm39)	Y358N	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
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
R9623:Or4a73	UTSW	2	89,421,261 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGTCTGGCATACATGAAAATGC -3'
(R):5'- TAAACCACTGCACTATTTGACCATC -3'

Sequencing Primer
(F):5'- GCATACATGAAAATGCAGGGAAC -3'
(R):5'- CTGCACTATTTGACCATCATGAATCG -3'

Posted On

2019-09-13