Mutagenetix > Incidental Mutation

Incidental Mutation 'R4514:Or4p22'

332775

Institutional Source

Beutler Lab

Gene Symbol

Or4p22

Ensembl Gene

ENSMUSG00000051424

Gene Name

olfactory receptor family 4 subfamily P member 22

Synonyms

MOR225-3, GA_x6K02T2Q125-49974190-49975125, Olfr1184

MMRRC Submission

041588-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88317078-88318013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88317709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 211 (V211A)

Ref Sequence

ENSEMBL: ENSMUSP00000149649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050038] [ENSMUST00000216675]

AlphaFold

Q8VG86

Predicted Effect

probably benign
Transcript: ENSMUST00000050038
AA Change: V211A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000058679
Gene: ENSMUSG00000051424
AA Change: V211A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.2e-47	PFAM
Pfam:7tm_1	39	285	2.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216675
AA Change: V211A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.9%
20x: 94.1%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	G	8: 25,308,152 (GRCm39)	T51P	probably damaging	Het
Akr1c20	A	C	13: 4,557,843 (GRCm39)	V201G	probably damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Arpp21	T	A	9: 112,006,745 (GRCm39)	T155S	probably damaging	Het
Atm	T	A	9: 53,404,339 (GRCm39)	Q1334L	probably damaging	Het
Bptf	G	A	11: 106,968,518 (GRCm39)	T1055M	probably damaging	Het
Cd3g	C	A	9: 44,884,882 (GRCm39)	A121S	possibly damaging	Het
Cenpn	A	G	8: 117,660,135 (GRCm39)	Y68C	probably damaging	Het
Clock	A	G	5: 76,378,046 (GRCm39)	I618T	probably benign	Het
Cp	A	G	3: 20,042,177 (GRCm39)	M982V	probably damaging	Het
Csf3r	T	A	4: 125,933,653 (GRCm39)	S611T	possibly damaging	Het
Csn3	A	G	5: 88,077,997 (GRCm39)	T168A	unknown	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
D630003M21Rik	T	C	2: 158,046,722 (GRCm39)	T752A	probably benign	Het
Defb34	A	T	8: 19,176,522 (GRCm39)	D71V	probably damaging	Het
Dync1h1	T	A	12: 110,623,573 (GRCm39)	D3615E	possibly damaging	Het
Etl4	A	T	2: 20,666,709 (GRCm39)	T167S	probably damaging	Het
F5	T	A	1: 163,979,566 (GRCm39)		probably benign	Het
Got1l1	C	T	8: 27,688,513 (GRCm39)	M279I	probably benign	Het
Grm7	A	G	6: 111,335,265 (GRCm39)	T559A	possibly damaging	Het
Ifit1	A	T	19: 34,625,913 (GRCm39)	R350*	probably null	Het
Ighv2-5	T	C	12: 113,649,216 (GRCm39)	N79S	possibly damaging	Het
Igkv17-127	A	G	6: 67,838,498 (GRCm39)	I70V	possibly damaging	Het
Itga8	T	C	2: 12,187,547 (GRCm39)	S711G	probably benign	Het
Kndc1	A	G	7: 139,490,202 (GRCm39)	T235A	probably benign	Het
Lct	T	C	1: 128,228,251 (GRCm39)	I1081V	probably benign	Het
Lrrc8b	G	T	5: 105,627,819 (GRCm39)	C55F	probably damaging	Het
Lrwd1	T	C	5: 136,160,402 (GRCm39)	T311A	probably benign	Het
Mapk14	T	C	17: 28,943,798 (GRCm39)	F129S	probably damaging	Het
Mdga2	A	G	12: 66,763,496 (GRCm39)	I200T	probably damaging	Het
Mocos	T	A	18: 24,816,269 (GRCm39)	S615R	probably damaging	Het
Myh4	T	C	11: 67,146,395 (GRCm39)	V1456A	probably benign	Het
Myh9	T	C	15: 77,648,200 (GRCm39)	I1759V	probably benign	Het
Nat8f5	G	A	6: 85,794,405 (GRCm39)	T185I	possibly damaging	Het
Nav3	T	C	10: 109,529,943 (GRCm39)	I2133V	possibly damaging	Het
Ncam2	T	A	16: 81,309,884 (GRCm39)	M458K	probably benign	Het
Nphp1	T	C	2: 127,590,007 (GRCm39)	S532G	probably benign	Het
Oplah	A	G	15: 76,182,155 (GRCm39)	L1035P	probably damaging	Het
Or52h2	C	T	7: 103,838,598 (GRCm39)	R272H	probably benign	Het
Pask	T	A	1: 93,249,855 (GRCm39)	Q515L	probably benign	Het
Poglut1	A	T	16: 38,369,778 (GRCm39)	F35I	probably benign	Het
Ppp1ca	T	G	19: 4,245,054 (GRCm39)	I319S	probably benign	Het
Psg25	T	A	7: 18,263,533 (GRCm39)	R97*	probably null	Het
Sars2	T	C	7: 28,441,709 (GRCm39)		probably null	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc16a7	T	G	10: 125,069,308 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
St6gal2	A	T	17: 55,790,018 (GRCm39)	N351Y	probably benign	Het
Susd5	T	C	9: 113,924,992 (GRCm39)	F292L	probably benign	Het
Tmco5	T	A	2: 116,710,795 (GRCm39)	D38E	probably damaging	Het
Tubgcp2	G	A	7: 139,575,984 (GRCm39)	P893L	possibly damaging	Het
Uncx	A	G	5: 139,532,522 (GRCm39)	I196V	possibly damaging	Het
Zeb1	G	A	18: 5,759,007 (GRCm39)	C138Y	probably damaging	Het
Zfp609	A	G	9: 65,610,977 (GRCm39)	I662T	possibly damaging	Het
Zfp985	G	A	4: 147,668,020 (GRCm39)	C296Y	probably damaging	Het

Other mutations in Or4p22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Or4p22	APN	2	88,317,592 (GRCm39)	missense	probably damaging	1.00
IGL01288:Or4p22	APN	2	88,317,592 (GRCm39)	missense	probably damaging	1.00
IGL01790:Or4p22	APN	2	88,317,270 (GRCm39)	missense	possibly damaging	0.65
IGL02070:Or4p22	APN	2	88,317,346 (GRCm39)	missense	probably damaging	1.00
IGL02247:Or4p22	APN	2	88,317,771 (GRCm39)	missense	probably benign	0.00
IGL02932:Or4p22	APN	2	88,317,519 (GRCm39)	missense	probably benign	0.01
IGL02997:Or4p22	APN	2	88,317,732 (GRCm39)	missense	probably damaging	0.99
IGL03161:Or4p22	APN	2	88,317,792 (GRCm39)	missense	probably benign	0.01
PIT4531001:Or4p22	UTSW	2	88,317,601 (GRCm39)	missense	possibly damaging	0.95
R3713:Or4p22	UTSW	2	88,317,787 (GRCm39)	missense	probably damaging	1.00
R3715:Or4p22	UTSW	2	88,317,787 (GRCm39)	missense	probably damaging	1.00
R4421:Or4p22	UTSW	2	88,317,585 (GRCm39)	missense	probably damaging	1.00
R5096:Or4p22	UTSW	2	88,317,646 (GRCm39)	missense	possibly damaging	0.89
R5661:Or4p22	UTSW	2	88,317,441 (GRCm39)	missense	probably damaging	0.98
R5851:Or4p22	UTSW	2	88,317,204 (GRCm39)	missense	possibly damaging	0.54
R6458:Or4p22	UTSW	2	88,317,562 (GRCm39)	missense	possibly damaging	0.90
R7073:Or4p22	UTSW	2	88,317,651 (GRCm39)	missense	probably benign	0.00
R7102:Or4p22	UTSW	2	88,317,492 (GRCm39)	missense	probably damaging	1.00
R7145:Or4p22	UTSW	2	88,317,721 (GRCm39)	missense	probably damaging	1.00
R7221:Or4p22	UTSW	2	88,317,973 (GRCm39)	missense	probably damaging	0.97
R8827:Or4p22	UTSW	2	88,317,165 (GRCm39)	missense	probably damaging	0.96
R9324:Or4p22	UTSW	2	88,317,787 (GRCm39)	missense	probably damaging	1.00
R9645:Or4p22	UTSW	2	88,317,373 (GRCm39)	missense	possibly damaging	0.89
X0063:Or4p22	UTSW	2	88,317,834 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- AGAAGCAGGTGCCATATCCTG -3'
(R):5'- AGATTTTGTCCTCAGGGAAAGTGG -3'

Sequencing Primer
(F):5'- AAGCAGGTGCCATATCCTGATCTG -3'
(R):5'- TCCTCAGGGAAAGTGGTAGGAG -3'

Posted On

2015-08-18