Mutagenetix > Incidental Mutation

Incidental Mutation 'R6490:Or2aj6'

522816

Institutional Source

Beutler Lab

Gene Symbol

Or2aj6

Ensembl Gene

ENSMUSG00000060480

Gene Name

olfactory receptor family 2 subfamily AJ member 6

Synonyms

GA_x54KRFPKG5P-16071018-16070077, MOR273-5, MOR273-1, Olfr171

MMRRC Submission

044622-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6490 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19442907-19443851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19443194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 219 (V219M)

Ref Sequence

ENSEMBL: ENSMUSP00000145692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079891] [ENSMUST00000205467]

AlphaFold

G5E8J1

Predicted Effect

probably benign
Transcript: ENSMUST00000079891
AA Change: V220M

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000078814
Gene: ENSMUSG00000060480
AA Change: V220M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	309	2.6e-43	PFAM
Pfam:7TM_GPCR_Srsx	36	261	8.6e-6	PFAM
Pfam:7tm_1	42	291	3.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205467
AA Change: V219M

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	T	G	8: 122,267,293 (GRCm39)	K38T	probably benign	Het
Abca13	A	G	11: 9,248,661 (GRCm39)	T2803A	probably benign	Het
Adam23	A	G	1: 63,596,613 (GRCm39)	D565G	probably damaging	Het
Adcy3	A	G	12: 4,262,150 (GRCm39)	T1067A	probably damaging	Het
Agrn	A	T	4: 156,251,819 (GRCm39)	Y1921*	probably null	Het
Apc2	A	G	10: 80,149,757 (GRCm39)	N1604D	probably benign	Het
Atxn7	A	T	14: 14,089,446 (GRCm38)	R321*	probably null	Het
Axin1	T	A	17: 26,361,968 (GRCm39)	I104N	probably damaging	Het
Bahd1	T	C	2: 118,747,619 (GRCm39)	S413P	probably benign	Het
Baz2b	C	T	2: 59,732,073 (GRCm39)	C2024Y	probably damaging	Het
Cacna1i	T	A	15: 80,262,448 (GRCm39)	V1388E	probably damaging	Het
Ces4a	G	A	8: 105,876,090 (GRCm39)	V544M	probably benign	Het
Cntn3	G	A	6: 102,255,301 (GRCm39)	T199I	probably damaging	Het
Col6a4	A	T	9: 105,952,191 (GRCm39)	L569*	probably null	Het
Ctnna2	A	G	6: 77,120,892 (GRCm39)	I12T	probably benign	Het
Dhx37	A	G	5: 125,496,196 (GRCm39)	M754T	probably benign	Het
Dmrt1	T	A	19: 25,523,395 (GRCm39)	S249T	possibly damaging	Het
Ell	G	T	8: 71,025,553 (GRCm39)	S59I	probably damaging	Het
Fam89a	G	A	8: 125,467,982 (GRCm39)	S110F	probably damaging	Het
Fer1l4	A	C	2: 155,889,834 (GRCm39)	F278V	possibly damaging	Het
Fyn	T	C	10: 39,427,398 (GRCm39)	I427T	probably damaging	Het
Galnt14	T	C	17: 73,832,365 (GRCm39)	D250G	probably damaging	Het
Glp1r	T	C	17: 31,143,546 (GRCm39)	V194A	probably damaging	Het
Glt1d1	T	A	5: 127,721,360 (GRCm39)		probably null	Het
Gm7995	A	G	14: 42,133,327 (GRCm39)	K69R	probably benign	Het
Grip1	A	G	10: 119,822,329 (GRCm39)	T379A	possibly damaging	Het
Gtpbp2	G	T	17: 46,479,147 (GRCm39)	A570S	probably benign	Het
Hmcn1	T	C	1: 150,459,029 (GRCm39)	I5192V	probably benign	Het
Igfl3	A	T	7: 17,913,844 (GRCm39)	I65F	possibly damaging	Het
Igsf10	G	T	3: 59,236,992 (GRCm39)	T1063K	probably benign	Het
Itfg1	A	G	8: 86,466,930 (GRCm39)	V381A	probably benign	Het
Itprid1	A	G	6: 55,953,405 (GRCm39)	D907G	probably damaging	Het
Jmjd8	T	A	17: 26,048,086 (GRCm39)	V16E	probably benign	Het
Kank1	A	G	19: 25,387,449 (GRCm39)	Y374C	probably damaging	Het
Kcnma1	C	T	14: 23,386,165 (GRCm39)	V891I	possibly damaging	Het
Kif20a	C	A	18: 34,762,543 (GRCm39)	T472K	possibly damaging	Het
Klhl32	A	T	4: 24,711,578 (GRCm39)		probably benign	Het
Lrrc37a	A	G	11: 103,347,486 (GRCm39)	S3070P	unknown	Het
Mettl21e	T	G	1: 44,249,425 (GRCm39)	Y77S	probably damaging	Het
Mlst8	G	T	17: 24,696,935 (GRCm39)	D82E	probably benign	Het
Mrgprx2	A	T	7: 48,132,617 (GRCm39)	L67Q	probably damaging	Het
Mylk	T	A	16: 34,750,237 (GRCm39)	L1192Q	possibly damaging	Het
Myt1l	A	T	12: 29,882,365 (GRCm39)	Y520F	unknown	Het
Naip2	A	T	13: 100,297,193 (GRCm39)	W948R	probably benign	Het
Nlrp9a	A	C	7: 26,250,311 (GRCm39)	K25N	probably damaging	Het
Nsd3	T	C	8: 26,204,212 (GRCm39)	C414R	probably damaging	Het
Oit3	A	T	10: 59,274,374 (GRCm39)	V142D	possibly damaging	Het
P2ry6	T	C	7: 100,587,580 (GRCm39)	T260A	probably damaging	Het
Papola	A	G	12: 105,771,196 (GRCm39)	Q87R	probably benign	Het
Pla2g4a	T	A	1: 149,727,086 (GRCm39)	R557*	probably null	Het
Rgs13	G	T	1: 144,016,576 (GRCm39)	H56N	probably damaging	Het
Sbf1	T	C	15: 89,189,111 (GRCm39)	S537G	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Spata31h1	A	T	10: 82,125,138 (GRCm39)	L2624Q	possibly damaging	Het
Stam2	T	C	2: 52,610,954 (GRCm39)	T23A	probably benign	Het
Tbl1xr1	C	A	3: 22,258,141 (GRCm39)	H467Q	probably damaging	Het
Tmem131l	A	G	3: 83,820,587 (GRCm39)	S1222P	possibly damaging	Het
Tmem43	G	T	6: 91,455,759 (GRCm39)	Q123H	probably damaging	Het
Tmem43	T	A	6: 91,463,862 (GRCm39)	I379N	possibly damaging	Het
Trim43c	A	T	9: 88,727,003 (GRCm39)	I277F	possibly damaging	Het
Ttn	A	G	2: 76,703,211 (GRCm39)		probably benign	Het
Vmn1r75	T	A	7: 11,615,003 (GRCm39)	V245D	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vps53	A	T	11: 75,967,881 (GRCm39)	M414K	probably benign	Het
Wrn	T	G	8: 33,809,248 (GRCm39)	L249F	probably benign	Het
Zc3h13	TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT	TGATGTCCGGGATGTCCGGGATGTCCGGGATGT	14: 75,560,998 (GRCm39)		probably benign	Het
Zfp454	T	C	11: 50,764,950 (GRCm39)	N161D	probably benign	Het
Zfp619	G	A	7: 39,183,586 (GRCm39)	G60R	probably benign	Het
Zfp623	T	A	15: 75,820,308 (GRCm39)	H421Q	probably damaging	Het
Zfp827	A	G	8: 79,916,606 (GRCm39)		probably benign	Het

Other mutations in Or2aj6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02023:Or2aj6	APN	16	19,443,158 (GRCm39)	missense	probably benign	0.03
IGL02256:Or2aj6	APN	16	19,443,756 (GRCm39)	missense	probably benign	0.07
IGL02572:Or2aj6	APN	16	19,443,848 (GRCm39)	start codon destroyed	probably benign	0.01
IGL02966:Or2aj6	APN	16	19,443,051 (GRCm39)	missense	probably damaging	1.00
R0062:Or2aj6	UTSW	16	19,443,167 (GRCm39)	missense	probably benign	0.10
R3614:Or2aj6	UTSW	16	19,443,515 (GRCm39)	missense	probably damaging	1.00
R4899:Or2aj6	UTSW	16	19,442,950 (GRCm39)	missense	probably benign	0.33
R5070:Or2aj6	UTSW	16	19,443,742 (GRCm39)	missense	possibly damaging	0.47
R5334:Or2aj6	UTSW	16	19,443,241 (GRCm39)	missense	probably benign	0.02
R5718:Or2aj6	UTSW	16	19,443,139 (GRCm39)	missense	probably benign	0.06
R6632:Or2aj6	UTSW	16	19,443,773 (GRCm39)	missense	probably benign
R7801:Or2aj6	UTSW	16	19,443,373 (GRCm39)	missense	probably damaging	0.99
R8858:Or2aj6	UTSW	16	19,443,109 (GRCm39)	missense	probably damaging	1.00
R9036:Or2aj6	UTSW	16	19,443,295 (GRCm39)	nonsense	probably null
R9056:Or2aj6	UTSW	16	19,443,791 (GRCm39)	missense	probably benign	0.03
R9110:Or2aj6	UTSW	16	19,443,743 (GRCm39)	missense	possibly damaging	0.86
R9576:Or2aj6	UTSW	16	19,442,961 (GRCm39)	missense	probably damaging	1.00
X0057:Or2aj6	UTSW	16	19,443,676 (GRCm39)	missense	probably damaging	1.00
X0063:Or2aj6	UTSW	16	19,443,458 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- CAGAAACTTATCCTGCCCTGG -3'
(R):5'- TAACTTCAGTGGGCTCCTGG -3'

Sequencing Primer
(F):5'- AAACTTATCCTGCCCTGGAGTGTG -3'
(R):5'- TGGGGATCCTCAACTCCATAG -3'

Posted On

2018-06-06