Mutagenetix > Incidental Mutation

Incidental Mutation 'R3890:Or2aj5'

310367

Institutional Source

Beutler Lab

Gene Symbol

Or2aj5

Ensembl Gene

ENSMUSG00000062245

Gene Name

olfactory receptor family 2 subfamily AJ member 5

Synonyms

Olfr170, MOR273-2, GA_x54KRFPKG5P-16052703-16051765

MMRRC Submission

040802-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R3890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19424475-19425416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19425205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 71 (I71T)

Ref Sequence

ENSEMBL: ENSMUSP00000151806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078603] [ENSMUST00000206562] [ENSMUST00000218837]

AlphaFold

Q8VGL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000078603
AA Change: I70T

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

SMART Domains

Protein: ENSMUSP00000077674
Gene: ENSMUSG00000062245
AA Change: I70T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	1.5e-43	PFAM
Pfam:7tm_1	41	290	2.4e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206562
AA Change: I70T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000218837
AA Change: I71T

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

Meta Mutation Damage Score

0.1765

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,604,700 (GRCm39)	Y201C	probably damaging	Het
Adam10	A	G	9: 70,676,136 (GRCm39)	T624A	probably benign	Het
Atf2	T	C	2: 73,693,557 (GRCm39)	S2G	probably damaging	Het
Atf7ip	T	C	6: 136,564,043 (GRCm39)	V762A	possibly damaging	Het
Cacna1e	C	T	1: 154,359,299 (GRCm39)	R265Q	probably damaging	Het
Cckbr	A	C	7: 105,075,376 (GRCm39)	T49P	probably benign	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Clrn3	T	C	7: 135,120,194 (GRCm39)	T131A	possibly damaging	Het
Cntrl	T	G	2: 35,060,492 (GRCm39)	C1342G	probably benign	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,779,310 (GRCm39)	S598P	probably damaging	Het
Deup1	A	G	9: 15,511,009 (GRCm39)	Y257H	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Ect2	T	C	3: 27,192,689 (GRCm39)	D387G	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fmo4	A	T	1: 162,621,624 (GRCm39)	I529N	probably benign	Het
Frs3	A	G	17: 48,014,360 (GRCm39)	D351G	probably damaging	Het
Gcat	T	A	15: 78,921,376 (GRCm39)	V378D	probably damaging	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Hspa4l	A	T	3: 40,736,026 (GRCm39)	Q570L	possibly damaging	Het
Ifi213	A	G	1: 173,394,822 (GRCm39)	I571T	probably benign	Het
Lsamp	T	C	16: 39,805,054 (GRCm39)	V11A	probably benign	Het
Mettl1	T	C	10: 126,880,998 (GRCm39)		probably null	Het
Mettl15	A	G	2: 109,021,924 (GRCm39)	I127T	probably benign	Het
Mipep	T	C	14: 61,046,444 (GRCm39)	L322P	probably damaging	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Mobp	G	A	9: 119,997,022 (GRCm39)	C51Y	probably damaging	Het
Ms4a3	T	C	19: 11,610,271 (GRCm39)	N97S	probably benign	Het
Myrip	A	G	9: 120,251,324 (GRCm39)	E210G	probably damaging	Het
Nos1ap	T	C	1: 170,177,025 (GRCm39)	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,259,223 (GRCm39)	A342S	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or7e165	T	G	9: 19,695,011 (GRCm39)	I194S	probably benign	Het
Pdgfra	A	G	5: 75,328,588 (GRCm39)	N240S	probably null	Het
Pdxdc1	T	C	16: 13,654,312 (GRCm39)	T759A	probably benign	Het
Pex2	C	T	3: 5,626,008 (GRCm39)	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,525,616 (GRCm39)	I473T	probably damaging	Het
Prdm15	T	C	16: 97,600,771 (GRCm39)	H829R	probably damaging	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rcbtb1	T	A	14: 59,465,804 (GRCm39)	H382Q	possibly damaging	Het
Rprd2	A	T	3: 95,672,536 (GRCm39)	F956I	probably damaging	Het
Samd1	G	A	8: 84,724,361 (GRCm39)		probably benign	Het
Slc4a11	A	T	2: 130,527,705 (GRCm39)	S592T	probably damaging	Het
Slc5a4b	A	G	10: 75,898,094 (GRCm39)	V540A	probably benign	Het
Slfn8	G	A	11: 82,895,270 (GRCm39)	T512I	possibly damaging	Het
Slx4	A	T	16: 3,797,773 (GRCm39)	I1537N	probably damaging	Het
Sorl1	G	A	9: 41,915,401 (GRCm39)	T1276M	probably damaging	Het
Specc1	C	T	11: 62,042,739 (GRCm39)	T872M	probably benign	Het
Speer4f1	T	C	5: 17,684,500 (GRCm39)	I176T	probably damaging	Het
Spint1	T	C	2: 119,079,283 (GRCm39)	I455T	probably benign	Het
Srp54a	A	G	12: 55,135,978 (GRCm39)		probably null	Het
Stoml3	T	A	3: 53,414,875 (GRCm39)	N222K	probably damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tanc2	A	T	11: 105,689,504 (GRCm39)	D222V	probably damaging	Het
Tasor2	T	C	13: 3,646,785 (GRCm39)	E80G	probably damaging	Het
Thsd7a	G	A	6: 12,418,336 (GRCm39)	S631L	probably benign	Het
Vmn2r73	G	A	7: 85,507,144 (GRCm39)	H723Y	probably benign	Het
Wdfy4	T	C	14: 32,769,237 (GRCm39)	E2076G	probably damaging	Het

Other mutations in Or2aj5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01671:Or2aj5	APN	16	19,424,671 (GRCm39)	missense	probably benign	0.00
IGL02002:Or2aj5	APN	16	19,425,300 (GRCm39)	missense	possibly damaging	0.91
IGL02537:Or2aj5	APN	16	19,424,549 (GRCm39)	missense	probably damaging	1.00
IGL02881:Or2aj5	APN	16	19,425,050 (GRCm39)	missense	probably damaging	1.00
IGL03189:Or2aj5	APN	16	19,425,341 (GRCm39)	missense	probably benign
R0012:Or2aj5	UTSW	16	19,425,190 (GRCm39)	missense	probably benign	0.30
R0619:Or2aj5	UTSW	16	19,425,022 (GRCm39)	missense	probably damaging	1.00
R0764:Or2aj5	UTSW	16	19,425,182 (GRCm39)	missense	probably damaging	1.00
R1387:Or2aj5	UTSW	16	19,424,777 (GRCm39)	missense	probably damaging	1.00
R1430:Or2aj5	UTSW	16	19,424,752 (GRCm39)	missense	probably damaging	1.00
R1503:Or2aj5	UTSW	16	19,425,062 (GRCm39)	missense	probably benign	0.19
R1878:Or2aj5	UTSW	16	19,424,501 (GRCm39)	missense	probably benign
R1989:Or2aj5	UTSW	16	19,425,407 (GRCm39)	missense	probably benign	0.00
R2012:Or2aj5	UTSW	16	19,424,881 (GRCm39)	missense	probably benign	0.22
R3891:Or2aj5	UTSW	16	19,425,205 (GRCm39)	missense	probably damaging	1.00
R5591:Or2aj5	UTSW	16	19,424,608 (GRCm39)	missense	probably damaging	1.00
R6158:Or2aj5	UTSW	16	19,424,675 (GRCm39)	missense	probably damaging	1.00
R6297:Or2aj5	UTSW	16	19,424,680 (GRCm39)	missense	possibly damaging	0.81
R6512:Or2aj5	UTSW	16	19,425,109 (GRCm39)	missense	probably damaging	1.00
R6962:Or2aj5	UTSW	16	19,424,672 (GRCm39)	missense	probably benign	0.00
R7252:Or2aj5	UTSW	16	19,425,249 (GRCm39)	missense	probably damaging	0.99
R7605:Or2aj5	UTSW	16	19,425,022 (GRCm39)	missense	probably damaging	1.00
R7687:Or2aj5	UTSW	16	19,424,485 (GRCm39)	missense	probably benign
R8302:Or2aj5	UTSW	16	19,425,116 (GRCm39)	missense	probably benign	0.05
R8991:Or2aj5	UTSW	16	19,424,511 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTACTGAAGTTATCCCTCATCAG -3'
(R):5'- AACGACTTCATCCTCTTGGG -3'

Sequencing Primer
(F):5'- GTTATCCCTCATCAGCACAGGGTAG -3'
(R):5'- GGACTGTTCTCTTCTTCAAAGACAAG -3'

Posted On

2015-04-17