Mutagenetix > Incidental Mutation

Incidental Mutation 'R3715:Or4p22'

259832

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

040708-MU

Accession Numbers

Essential gene?

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

Stock #

R3715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88317078-88318013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88317787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 237 (T237N)

Ref Sequence

ENSEMBL: ENSMUSP00000149649 (fasta)

Gene Model

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

AlphaFold

Q8VG86

Predicted Effect

probably damaging
Transcript: ENSMUST00000050038
AA Change: T237N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058679
Gene: ENSMUSG00000051424
AA Change: T237N

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 damaging
Transcript: ENSMUST00000216675
AA Change: T237N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (52/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,424,081 (GRCm39)	M137V	probably benign	Het
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Aaas	T	C	15: 102,248,771 (GRCm39)	I236V	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adamtsl1	T	A	4: 86,135,213 (GRCm39)	I246N	probably benign	Het
Ak9	A	G	10: 41,233,508 (GRCm39)	D582G	probably damaging	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,187 (GRCm39)	K360E	probably damaging	Het
Cacna2d3	T	C	14: 29,068,880 (GRCm39)	I282M	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dlat	A	G	9: 50,549,354 (GRCm39)	V510A	probably damaging	Het
Eaf1	T	C	14: 31,224,402 (GRCm39)	I173T	possibly damaging	Het
Elavl3	G	T	9: 21,929,895 (GRCm39)	D336E	probably benign	Het
Epm2a	A	G	10: 11,219,420 (GRCm39)	Y69C	probably benign	Het
Fam168a	A	G	7: 100,473,432 (GRCm39)	N107S	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fras1	T	C	5: 96,793,829 (GRCm39)		probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Glt8d2	C	A	10: 82,488,571 (GRCm39)	A300S	probably benign	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Lipk	A	G	19: 34,017,829 (GRCm39)	N289S	probably damaging	Het
Lyg1	G	T	1: 37,989,759 (GRCm39)	R43S	probably damaging	Het
Marchf6	A	G	15: 31,465,405 (GRCm39)	L833P	probably benign	Het
Mc4r	T	A	18: 66,992,892 (GRCm39)	N74Y	probably damaging	Het
Med17	G	A	9: 15,175,062 (GRCm39)		probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Or2t26	T	C	11: 49,039,642 (GRCm39)	L186P	probably damaging	Het
Or4c15	A	G	2: 88,759,757 (GRCm39)	W301R	probably benign	Het
Otof	T	A	5: 30,534,215 (GRCm39)	K1397*	probably null	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Rbfox2	A	G	15: 76,983,451 (GRCm39)	I270T	probably damaging	Het
Rnf217	G	T	10: 31,410,728 (GRCm39)	C322*	probably null	Het
Sbk1	A	G	7: 125,889,183 (GRCm39)	T50A	probably benign	Het
Shmt1	T	C	11: 60,688,402 (GRCm39)	T248A	probably damaging	Het
Smim29	G	A	17: 27,785,043 (GRCm39)		probably benign	Het
Sox30	C	T	11: 45,875,619 (GRCm39)	T457I	probably damaging	Het
Stox2	T	A	8: 47,866,187 (GRCm39)	I52F	possibly damaging	Het
Syncrip	A	T	9: 88,361,738 (GRCm39)		probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,204,405 (GRCm39)	E235G	probably benign	Het
Tmem82	A	T	4: 141,344,945 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,230 (GRCm39)	T476A	probably damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn2r100	A	G	17: 19,752,272 (GRCm39)	R772G	probably damaging	Het
Xkr5	T	C	8: 18,984,474 (GRCm39)	E190G	probably benign	Het
Zfp236	A	G	18: 82,651,095 (GRCm39)		probably benign	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het
Zp2	A	T	7: 119,741,057 (GRCm39)	S156T	possibly damaging	Het
Zswim5	A	G	4: 116,819,755 (GRCm39)	T387A	probably benign	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
R4421:Or4p22	UTSW	2	88,317,585 (GRCm39)	missense	probably damaging	1.00
R4514:Or4p22	UTSW	2	88,317,709 (GRCm39)	missense	probably benign	0.05
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'- TCCCTTTGCTGAAAGTTGCC -3'
(R):5'- TAGTCACCATTGCATCACCC -3'

Sequencing Primer
(F):5'- TGAAAGTTGCCTGTACCGAC -3'
(R):5'- CTCTTCTGAAAACATGTTTTGACACC -3'

Posted On

2015-01-23