Mutagenetix > Incidental Mutation

Incidental Mutation 'R4788:Or4a81'

367223

Institutional Source

Beutler Lab

Gene Symbol

Or4a81

Ensembl Gene

ENSMUSG00000075074

Gene Name

olfactory receptor family 4 subfamily A member 81

Synonyms

Olfr1254, GA_x6K02T2Q125-51230155-51229211, MOR231-13

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4788 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89618750-89619694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89619480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 72 (S72F)

Ref Sequence

ENSEMBL: ENSMUSP00000149507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099764] [ENSMUST00000111523] [ENSMUST00000216587]

AlphaFold

Q8VFB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099764
AA Change: S72F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097352
Gene: ENSMUSG00000075074
AA Change: S72F

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	9.7e-30	PFAM
Pfam:7tm_4	137	278	1.3e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111523
AA Change: S72F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107148
Gene: ENSMUSG00000075074
AA Change: S72F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.4e-46	PFAM
Pfam:7tm_1	39	285	5.6e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216587
AA Change: S72F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 98.8%
3x: 98.4%
10x: 96.9%
20x: 94.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,960,361 (GRCm39)	D815N	probably damaging	Het
Abcc9	A	T	6: 142,566,456 (GRCm39)	C1135*	probably null	Het
Ap3b1	G	A	13: 94,702,149 (GRCm39)	M1067I	unknown	Het
Arhgap15	T	C	2: 43,638,902 (GRCm39)	M1T	probably null	Het
Boc	T	C	16: 44,320,796 (GRCm39)	D288G	probably damaging	Het
Brsk1	G	T	7: 4,701,954 (GRCm39)		probably null	Het
Cabp1	T	C	5: 115,313,530 (GRCm39)	N226S	probably benign	Het
Capn13	A	T	17: 73,644,427 (GRCm39)	Y367*	probably null	Het
Ccdc191	A	G	16: 43,777,185 (GRCm39)	E632G	probably damaging	Het
Cit	T	C	5: 116,071,565 (GRCm39)	S591P	probably damaging	Het
Ckmt1	T	C	2: 121,190,427 (GRCm39)	V118A	possibly damaging	Het
Cndp2	T	C	18: 84,693,289 (GRCm39)	N157S	probably damaging	Het
Col6a3	A	G	1: 90,700,672 (GRCm39)		probably null	Het
Coq2	A	T	5: 100,805,775 (GRCm39)	V287E	probably damaging	Het
Cpa6	T	C	1: 10,478,502 (GRCm39)	K278R	possibly damaging	Het
Cracdl	A	T	1: 37,670,556 (GRCm39)	I128K	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp3a25	A	T	5: 145,921,892 (GRCm39)	Y347*	probably null	Het
Dcun1d4	G	T	5: 73,691,971 (GRCm39)	W160L	probably damaging	Het
Dennd4c	A	G	4: 86,738,200 (GRCm39)	T994A	probably benign	Het
Dhx57	T	C	17: 80,582,760 (GRCm39)	T229A	probably benign	Het
Dnah6	T	A	6: 73,106,513 (GRCm39)	R1741S	probably damaging	Het
Dock1	T	A	7: 134,747,213 (GRCm39)	V1508D	probably damaging	Het
Donson	T	C	16: 91,484,721 (GRCm39)	T117A	possibly damaging	Het
Dtnb	A	G	12: 3,822,699 (GRCm39)	D533G	probably damaging	Het
Fcrl5	A	G	3: 87,364,495 (GRCm39)	N470S	probably damaging	Het
Focad	T	A	4: 88,275,706 (GRCm39)	V1105E	unknown	Het
Fry	T	C	5: 150,323,101 (GRCm39)	V1084A	probably benign	Het
Gabra1	G	T	11: 42,037,980 (GRCm39)	R213S	probably damaging	Het
Gbp2b	A	C	3: 142,317,171 (GRCm39)	K509T	probably benign	Het
Gprc6a	T	C	10: 51,491,104 (GRCm39)	T811A	probably benign	Het
Hmgcs2	A	G	3: 98,198,400 (GRCm39)	D101G	probably damaging	Het
Ifna11	G	A	4: 88,738,245 (GRCm39)	W17*	probably null	Het
Ighv1-62-3	T	A	12: 115,424,672 (GRCm39)	M100L	probably benign	Het
Lgmn	T	A	12: 102,368,936 (GRCm39)	Y181F	probably benign	Het
Map4k4	T	C	1: 40,043,076 (GRCm39)	S644P	probably benign	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Nav1	C	T	1: 135,397,461 (GRCm39)	A903T	probably benign	Het
Nop53	T	C	7: 15,676,240 (GRCm39)	E153G	possibly damaging	Het
Nop56	G	T	2: 130,120,820 (GRCm39)	V190L	probably benign	Het
Nyap2	A	T	1: 81,247,112 (GRCm39)	M687L	probably benign	Het
Or8g17	T	C	9: 38,930,217 (GRCm39)	T207A	probably benign	Het
Or8g26	A	G	9: 39,095,908 (GRCm39)	T145A	probably benign	Het
Osbp2	T	C	11: 3,813,320 (GRCm39)	K183R	probably benign	Het
Pappa2	A	G	1: 158,611,487 (GRCm39)	V1492A	possibly damaging	Het
Pax1	A	G	2: 147,208,124 (GRCm39)	Q244R	possibly damaging	Het
Pcdh9	C	A	14: 94,124,851 (GRCm39)	V317F	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,417 (GRCm39)	Q489L	probably damaging	Het
Poln	A	T	5: 34,286,675 (GRCm39)	S164R	probably benign	Het
Ptf1a	T	C	2: 19,450,762 (GRCm39)	S31P	probably benign	Het
Rasal3	A	T	17: 32,618,312 (GRCm39)	D164E	probably benign	Het
Rnf170	A	G	8: 26,630,891 (GRCm39)	E168G	probably damaging	Het
Rubcn	A	G	16: 32,656,778 (GRCm39)		probably null	Het
Sec16b	A	T	1: 157,389,094 (GRCm39)	T830S	possibly damaging	Het
Sel1l3	A	G	5: 53,289,175 (GRCm39)	V882A	probably benign	Het
Sfpq	A	G	4: 126,919,791 (GRCm39)	E512G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,302,518 (GRCm39)	L187P	probably damaging	Het
Skint6	C	T	4: 113,095,533 (GRCm39)	G42D	possibly damaging	Het
Slc7a2	A	G	8: 41,367,023 (GRCm39)	I526V	probably benign	Het
Spmip7	T	C	11: 11,438,652 (GRCm39)		probably null	Het
Ssh2	A	T	11: 77,320,624 (GRCm39)	N328Y	probably damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Tom1l2	A	G	11: 60,139,844 (GRCm39)	L275P	probably damaging	Het
Trgv5	A	G	13: 19,376,724 (GRCm39)	K57R	probably benign	Het
Tyrp1	C	T	4: 80,763,180 (GRCm39)	R356*	probably null	Het
Zan	A	G	5: 137,440,375 (GRCm39)	L1953P	unknown	Het
Zfhx3	T	C	8: 109,520,842 (GRCm39)	S655P	probably damaging	Het
Zmym1	T	C	4: 126,948,090 (GRCm39)	T94A	probably benign	Het

Other mutations in Or4a81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Or4a81	APN	2	89,619,129 (GRCm39)	missense	probably damaging	1.00
IGL02822:Or4a81	APN	2	89,619,444 (GRCm39)	missense	possibly damaging	0.56
R1166:Or4a81	UTSW	2	89,619,675 (GRCm39)	missense	possibly damaging	0.74
R1639:Or4a81	UTSW	2	89,619,589 (GRCm39)	missense	probably damaging	1.00
R2248:Or4a81	UTSW	2	89,619,524 (GRCm39)	missense	possibly damaging	0.59
R2256:Or4a81	UTSW	2	89,618,814 (GRCm39)	missense	probably benign
R2351:Or4a81	UTSW	2	89,619,522 (GRCm39)	missense	probably damaging	0.97
R4432:Or4a81	UTSW	2	89,619,078 (GRCm39)	missense	possibly damaging	0.76
R4649:Or4a81	UTSW	2	89,619,637 (GRCm39)	missense	probably benign	0.19
R6454:Or4a81	UTSW	2	89,619,522 (GRCm39)	missense	probably damaging	0.97
R6591:Or4a81	UTSW	2	89,619,332 (GRCm39)	nonsense	probably null
R6691:Or4a81	UTSW	2	89,619,332 (GRCm39)	nonsense	probably null
R7418:Or4a81	UTSW	2	89,619,320 (GRCm39)	nonsense	probably null
R7451:Or4a81	UTSW	2	89,619,453 (GRCm39)	missense	probably benign
R8024:Or4a81	UTSW	2	89,619,390 (GRCm39)	missense	probably benign	0.07
R8080:Or4a81	UTSW	2	89,618,971 (GRCm39)	missense	possibly damaging	0.78
R8251:Or4a81	UTSW	2	89,619,567 (GRCm39)	missense	probably damaging	1.00
R8318:Or4a81	UTSW	2	89,619,321 (GRCm39)	missense	possibly damaging	0.60
R8475:Or4a81	UTSW	2	89,619,586 (GRCm39)	missense	probably benign	0.01
R9166:Or4a81	UTSW	2	89,619,291 (GRCm39)	missense	probably damaging	1.00
R9460:Or4a81	UTSW	2	89,618,778 (GRCm39)	missense	probably benign
R9474:Or4a81	UTSW	2	89,619,506 (GRCm39)	nonsense	probably null
R9677:Or4a81	UTSW	2	89,619,161 (GRCm39)	missense	possibly damaging	0.95
X0022:Or4a81	UTSW	2	89,619,075 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CATGGAGTGTGCAAACCCTC -3'
(R):5'- TCACTCAGGATCCTGTTGGC -3'

Sequencing Primer
(F):5'- TGCAAACCCGGTGATTCATG -3'
(R):5'- CTCAGGATCCTGTTGGCCAAAAAG -3'

Posted On

2015-12-29