Mutagenetix > Incidental Mutation

Incidental Mutation 'R9364:Or2aj4'

708869

Institutional Source

Beutler Lab

Gene Symbol

Or2aj4

Ensembl Gene

ENSMUSG00000068535

Gene Name

olfactory receptor family 2 subfamily AJ member 4

Synonyms

GA_x54KRFPKG5P-16014972-16014031, MOR273-3P, Olfr169

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R9364 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19384690-19385631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19384722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 304 (I304F)

Ref Sequence

ENSEMBL: ENSMUSP00000149087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090062] [ENSMUST00000215040] [ENSMUST00000215476] [ENSMUST00000216070]

AlphaFold

Q7TS53

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090062
AA Change: I304F

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087516
Gene: ENSMUSG00000068535
AA Change: I304F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	308	1.3e-45	PFAM
Pfam:7TM_GPCR_Srsx	35	303	2e-6	PFAM
Pfam:7tm_1	41	290	7.4e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215040
AA Change: I304F

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215476
AA Change: I304F

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216070
AA Change: I304F

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Ccdc136	C	T	6: 29,405,960 (GRCm39)	A102V	probably damaging	Het
Ccn4	G	A	15: 66,784,900 (GRCm39)	R191K	probably benign	Het
Ccnyl1	A	G	1: 64,753,750 (GRCm39)	Y187C	probably damaging	Het
Copa	G	A	1: 171,944,831 (GRCm39)	V882I	probably benign	Het
Cyp17a1	C	T	19: 46,657,165 (GRCm39)	R361H	probably damaging	Het
Ddx49	T	C	8: 70,746,226 (GRCm39)	T459A	probably benign	Het
Depdc5	A	G	5: 33,122,076 (GRCm39)	N1133S	probably benign	Het
Dnajc18	T	C	18: 35,808,260 (GRCm39)	D329G	probably damaging	Het
Dusp16	G	A	6: 134,695,982 (GRCm39)	P283L	probably damaging	Het
Efcab12	A	G	6: 115,814,975 (GRCm39)	V40A	probably benign	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Fam120b	G	A	17: 15,626,020 (GRCm39)	A458T	possibly damaging	Het
Fgd4	G	A	16: 16,308,353 (GRCm39)	T9I	probably benign	Het
Hivep1	G	A	13: 42,308,251 (GRCm39)	D164N	possibly damaging	Het
Klf13	T	A	7: 63,574,609 (GRCm39)		probably benign	Het
Lrrc47	T	C	4: 154,100,398 (GRCm39)	S325P	possibly damaging	Het
Mast3	C	T	8: 71,238,826 (GRCm39)	V493M	probably damaging	Het
Med22	T	C	2: 26,795,821 (GRCm39)	T200A	probably benign	Het
Mettl15	T	A	2: 108,961,960 (GRCm39)	Q216H	probably benign	Het
Mmel1	A	G	4: 154,976,967 (GRCm39)	D561G	probably null	Het
Ms4a4a	G	A	19: 11,367,708 (GRCm39)	M191I	probably benign	Het
Mtcl3	G	A	10: 29,072,775 (GRCm39)	R689Q	probably damaging	Het
Myh11	T	A	16: 14,018,580 (GRCm39)	N1922I		Het
Myo7b	T	C	18: 32,133,413 (GRCm39)	I371V	probably benign	Het
Myo9b	T	C	8: 71,808,483 (GRCm39)	S1697P	probably damaging	Het
Neurod4	T	C	10: 130,106,840 (GRCm39)	T145A	probably benign	Het
Nfx1	T	C	4: 41,023,756 (GRCm39)	V1055A	probably benign	Het
Ntng1	C	T	3: 110,042,680 (GRCm39)	A49T	probably damaging	Het
Oc90	G	A	15: 65,761,437 (GRCm39)	P194S	probably benign	Het
Opcml	A	C	9: 28,814,624 (GRCm39)	N292T	probably damaging	Het
Oplah	A	G	15: 76,193,787 (GRCm39)	S57P	probably benign	Het
Or1x6	T	A	11: 50,939,223 (GRCm39)	Y96*	probably null	Het
Or2a12	T	A	6: 42,904,534 (GRCm39)	I123N	probably damaging	Het
Or8k3b	A	T	2: 86,520,575 (GRCm39)	V248D	possibly damaging	Het
Pdzd8	A	T	19: 59,333,574 (GRCm39)	L149Q	probably damaging	Het
Pid1	A	G	1: 84,137,032 (GRCm39)	V33A	probably benign	Het
Prpsap1	A	G	11: 116,385,015 (GRCm39)		probably benign	Het
R3hdml	T	C	2: 163,334,535 (GRCm39)	W42R	probably benign	Het
Rnase6	A	T	14: 51,367,862 (GRCm39)	N85Y	possibly damaging	Het
Scn3a	T	A	2: 65,291,596 (GRCm39)	M1717L	possibly damaging	Het
Setbp1	C	T	18: 78,826,599 (GRCm39)	S1338N	probably benign	Het
Sh2b2	T	C	5: 136,253,006 (GRCm39)	T389A	probably benign	Het
Sh2d4a	G	A	8: 68,747,018 (GRCm39)	G82D	probably damaging	Het
Skint9	A	T	4: 112,248,915 (GRCm39)	M171K	probably benign	Het
Slc5a11	C	T	7: 122,868,324 (GRCm39)	R505W	probably damaging	Het
Slx4	C	A	16: 3,805,820 (GRCm39)	M577I	probably benign	Het
Tarbp1	C	T	8: 127,177,462 (GRCm39)	V737I	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem100	A	T	11: 89,926,533 (GRCm39)	E120V	probably damaging	Het
Trim72	C	T	7: 127,609,173 (GRCm39)	T325M	possibly damaging	Het
Trpc2	G	A	7: 101,739,819 (GRCm39)	G581D	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubn1	T	C	16: 4,888,492 (GRCm39)	S154P	unknown	Het
Uchl1	T	A	5: 66,833,649 (GRCm39)	M6K	probably damaging	Het
Vmn1r193	A	T	13: 22,403,989 (GRCm39)	M1K	probably null	Het
Zfp429	T	A	13: 67,538,531 (GRCm39)	K304N	probably benign	Het
Zfp618	A	G	4: 63,036,824 (GRCm39)	N375D	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp78	A	T	7: 6,382,354 (GRCm39)	D468V	probably benign	Het
Zfp809	A	C	9: 22,150,394 (GRCm39)	Y297S	probably damaging	Het

Other mutations in Or2aj4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Or2aj4	APN	16	19,384,958 (GRCm39)	missense	probably damaging	1.00
IGL01862:Or2aj4	APN	16	19,385,426 (GRCm39)	missense	probably damaging	1.00
IGL02064:Or2aj4	APN	16	19,385,298 (GRCm39)	missense	probably damaging	1.00
IGL03061:Or2aj4	APN	16	19,385,463 (GRCm39)	missense	possibly damaging	0.87
IGL03136:Or2aj4	APN	16	19,385,103 (GRCm39)	missense	probably damaging	1.00
R0066:Or2aj4	UTSW	16	19,384,799 (GRCm39)	missense	probably damaging	1.00
R0243:Or2aj4	UTSW	16	19,385,044 (GRCm39)	missense	probably damaging	0.97
R0629:Or2aj4	UTSW	16	19,384,730 (GRCm39)	missense	possibly damaging	0.88
R1644:Or2aj4	UTSW	16	19,385,156 (GRCm39)	missense	probably benign	0.11
R1943:Or2aj4	UTSW	16	19,385,187 (GRCm39)	missense	probably benign	0.19
R3016:Or2aj4	UTSW	16	19,385,141 (GRCm39)	missense	probably damaging	1.00
R4290:Or2aj4	UTSW	16	19,384,994 (GRCm39)	missense	possibly damaging	0.88
R4689:Or2aj4	UTSW	16	19,385,263 (GRCm39)	nonsense	probably null
R4791:Or2aj4	UTSW	16	19,385,413 (GRCm39)	missense	possibly damaging	0.50
R5497:Or2aj4	UTSW	16	19,385,080 (GRCm39)	missense	probably benign	0.10
R5843:Or2aj4	UTSW	16	19,385,333 (GRCm39)	missense	probably damaging	1.00
R6106:Or2aj4	UTSW	16	19,385,009 (GRCm39)	missense	probably damaging	0.99
R6249:Or2aj4	UTSW	16	19,384,725 (GRCm39)	missense	probably damaging	0.99
R7895:Or2aj4	UTSW	16	19,385,472 (GRCm39)	nonsense	probably null
R9284:Or2aj4	UTSW	16	19,385,357 (GRCm39)	missense	probably damaging	1.00
R9335:Or2aj4	UTSW	16	19,385,513 (GRCm39)	missense	probably benign	0.32
R9404:Or2aj4	UTSW	16	19,384,731 (GRCm39)	missense	probably benign	0.01
R9475:Or2aj4	UTSW	16	19,385,270 (GRCm39)	missense	probably benign	0.09
R9554:Or2aj4	UTSW	16	19,384,722 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- ATTGCCTTACTACAGCATAGCAAG -3'
(R):5'- CCCGGCAAAAGTCCTTTTCC -3'

Sequencing Primer
(F):5'- GCAAGACTTTACCATGGGCATCTG -3'
(R):5'- GGCAAAAGTCCTTTTCCACCTG -3'

Posted On

2022-04-18