Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02572:Or2aj6'

299030

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02572

Quality Score

Status

Chromosome

Chromosomal Location

19442907-19443851 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 19443848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

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: M2L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078814
Gene: ENSMUSG00000060480
AA Change: M2L

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: M1L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	C	1: 85,652,892 (GRCm39)	N92S	probably damaging	Het
Abca2	T	C	2: 25,323,329 (GRCm39)	L99P	possibly damaging	Het
Adam19	T	A	11: 46,022,548 (GRCm39)	Y500*	probably null	Het
Amy1	A	T	3: 113,358,722 (GRCm39)		probably benign	Het
Aox3	T	C	1: 58,197,526 (GRCm39)	I624T	probably damaging	Het
Atad3a	C	T	4: 155,838,041 (GRCm39)	D244N	possibly damaging	Het
Atp5mf	C	A	5: 145,124,047 (GRCm39)		probably benign	Het
Bbof1	G	A	12: 84,475,139 (GRCm39)	D443N	probably damaging	Het
Bod1l	G	A	5: 41,978,573 (GRCm39)	Q914*	probably null	Het
C330011M18Rik	A	G	8: 84,793,208 (GRCm39)		probably benign	Het
Cgref1	A	G	5: 31,090,911 (GRCm39)	V301A	probably benign	Het
Coa6	T	C	8: 127,149,480 (GRCm39)	Y19H	probably damaging	Het
Cop1	T	A	1: 159,136,448 (GRCm39)		probably benign	Het
Dmrta1	T	C	4: 89,579,795 (GRCm39)	S252P	probably benign	Het
Dnaaf5	T	G	5: 139,170,384 (GRCm39)	S484A	probably benign	Het
Dspp	A	T	5: 104,324,935 (GRCm39)	S433C	probably damaging	Het
Efcab5	G	A	11: 77,028,714 (GRCm39)	R206*	probably null	Het
Epop	A	T	11: 97,519,027 (GRCm39)	S361T	probably benign	Het
Fat3	T	A	9: 15,871,802 (GRCm39)	T3530S	probably benign	Het
Flvcr1	A	G	1: 190,757,843 (GRCm39)	Y108H	probably damaging	Het
Fsip2	T	G	2: 82,822,347 (GRCm39)	S6027A	probably benign	Het
Galnt14	A	G	17: 73,842,262 (GRCm39)	L209P	probably damaging	Het
Hif3a	C	A	7: 16,784,513 (GRCm39)	R25L	probably null	Het
Hsf5	A	G	11: 87,522,521 (GRCm39)		probably benign	Het
Il22ra2	A	T	10: 19,502,492 (GRCm39)	T104S	probably benign	Het
Klrk1	A	G	6: 129,592,316 (GRCm39)	S138P	probably damaging	Het
Lrp5	G	T	19: 3,664,283 (GRCm39)	Q815K	probably benign	Het
Morn4	A	G	19: 42,064,886 (GRCm39)		probably benign	Het
Nlrp14	T	A	7: 106,781,929 (GRCm39)	Y375*	probably null	Het
Nsd1	T	A	13: 55,443,943 (GRCm39)	M1714K	probably damaging	Het
Or5aq7	G	A	2: 86,938,710 (GRCm39)	T7I	possibly damaging	Het
Or6c213	T	A	10: 129,574,735 (GRCm39)	D17V	possibly damaging	Het
Pappa2	C	T	1: 158,678,786 (GRCm39)	A877T	probably benign	Het
Pcsk2	G	A	2: 143,532,262 (GRCm39)	A137T	probably damaging	Het
Piezo1	A	G	8: 123,212,044 (GRCm39)	V2054A	probably benign	Het
Rad52	A	G	6: 119,892,188 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rusf1	A	T	7: 127,889,752 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,519,740 (GRCm39)		probably benign	Het
Scrn1	C	T	6: 54,489,186 (GRCm39)	D312N	probably benign	Het
Sin3b	A	G	8: 73,471,109 (GRCm39)	Q352R	probably benign	Het
Slc25a28	A	G	19: 43,652,885 (GRCm39)	Y259H	probably damaging	Het
Sppl2a	T	C	2: 126,768,216 (GRCm39)	M151V	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stra8	G	A	6: 34,916,094 (GRCm39)	D280N	probably damaging	Het
Thbs2	A	T	17: 14,897,275 (GRCm39)	D744E	possibly damaging	Het
Tiparp	A	G	3: 65,439,310 (GRCm39)	T27A	probably benign	Het
Tmem38a	T	C	8: 73,333,818 (GRCm39)	F99S	probably damaging	Het
Tmod3	T	C	9: 75,416,667 (GRCm39)	T222A	probably benign	Het
Tnn	A	G	1: 159,913,677 (GRCm39)	I1272T	probably damaging	Het
Tnpo1	A	T	13: 98,985,667 (GRCm39)	I829N	probably damaging	Het
Trpm5	A	T	7: 142,641,613 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,598,215 (GRCm39)	V19566A	probably damaging	Het
V1ra8	A	G	6: 90,180,040 (GRCm39)	D81G	probably damaging	Het
Zdhhc20	A	G	14: 58,127,564 (GRCm39)	V25A	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
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
R6490:Or2aj6	UTSW	16	19,443,194 (GRCm39)	missense	probably benign	0.03
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

Posted On

2015-04-16