Mutagenetix > Incidental Mutation

Incidental Mutation 'R3891:Or2aj5'

310413

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

040803-MU

Accession Numbers

Essential gene?

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

Stock #

R3891 (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: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (51/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,655,847 (GRCm39)	T72A	probably damaging	Het
Ascc3	T	A	10: 50,718,289 (GRCm39)	I1994N	probably damaging	Het
C1qb	A	T	4: 136,607,727 (GRCm39)	V212E	probably damaging	Het
Cfap54	T	A	10: 92,874,708 (GRCm39)	I563F	possibly damaging	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
Col9a1	T	C	1: 24,224,517 (GRCm39)		probably null	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Diaph1	C	A	18: 38,033,691 (GRCm39)		probably benign	Het
Dmrta1	A	T	4: 89,579,831 (GRCm39)	I264F	possibly damaging	Het
Dscaml1	A	T	9: 45,628,782 (GRCm39)	D1112V	possibly damaging	Het
Ehbp1l1	A	G	19: 5,768,340 (GRCm39)	S988P	possibly damaging	Het
Gabrr2	A	G	4: 33,081,348 (GRCm39)	Y4C	probably damaging	Het
Gm10088	T	C	16: 18,847,001 (GRCm39)		noncoding transcript	Het
Gm5616	A	G	9: 48,361,809 (GRCm39)		noncoding transcript	Het
H2-T24	T	A	17: 36,326,330 (GRCm39)	I190F	possibly damaging	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Il1rap	A	G	16: 26,495,606 (GRCm39)	Y71C	probably damaging	Het
Krt1	T	A	15: 101,758,847 (GRCm39)	S106C	unknown	Het
Lsamp	T	C	16: 39,805,054 (GRCm39)	V11A	probably benign	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Naip2	T	A	13: 100,297,606 (GRCm39)	E810V	probably damaging	Het
Nfe2l1	A	G	11: 96,710,823 (GRCm39)	S181P	possibly 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
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or2t1	T	A	14: 14,328,114 (GRCm38)	M1K	probably null	Het
Pcdhb16	A	T	18: 37,612,422 (GRCm39)	I461F	probably benign	Het
Pcdhga10	A	C	18: 37,882,534 (GRCm39)	H765P	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
Polr2e	G	T	10: 79,873,213 (GRCm39)	P80T	probably benign	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rasef	A	G	4: 73,698,634 (GRCm39)	V9A	probably benign	Het
Rpl13	A	G	8: 123,831,907 (GRCm39)	E201G	probably damaging	Het
Skint2	A	G	4: 112,481,383 (GRCm39)	E82G	probably damaging	Het
Skor2	A	G	18: 76,946,350 (GRCm39)	D24G	unknown	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc29a3	T	A	10: 60,552,040 (GRCm39)	K335*	probably null	Het
Slc30a6	T	A	17: 74,726,541 (GRCm39)	D282E	probably benign	Het
Slc9a7	A	G	X: 20,052,352 (GRCm39)	F247S	probably damaging	Het
Slx4	A	T	16: 3,797,773 (GRCm39)	I1537N	probably damaging	Het
Specc1	C	T	11: 62,042,739 (GRCm39)	T872M	probably benign	Het
Stard10	G	A	7: 100,993,137 (GRCm39)	R231Q	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tesl1	A	G	X: 23,773,180 (GRCm39)	Y227C	probably damaging	Het
Vwa1	T	C	4: 155,857,651 (GRCm39)	E49G	probably damaging	Het
Zc3h12a	A	G	4: 125,020,678 (GRCm39)	F55S	probably damaging	Het
Zmym4	A	G	4: 126,798,269 (GRCm39)	I786T	probably benign	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
R3890: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'- CTACTGAAGTTATCCCTCATCAGC -3'
(R):5'- TTAACGACTTCATCCTCTTGGG -3'

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

Posted On

2015-04-17