Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02481:Or10ak12'

295187

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or10ak12

Ensembl Gene

ENSMUSG00000066061

Gene Name

olfactory receptor family 10 subfamily AK member 12

Synonyms

GA_x6K02T2QD9B-18726774-18727577, MOR259-5, Olfr1334-ps1, Olfr1335, GA_x6K02T2QD9B-18723799-18724749, MOR259-12

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL02481

Quality Score

Status

Chromosome

Chromosomal Location

118666052-118667059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118666696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 122 (V122M)

Ref Sequence

ENSEMBL: ENSMUSP00000151219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084313] [ENSMUST00000105035] [ENSMUST00000219094]

AlphaFold

B2RVY8

Predicted Effect

probably benign
Transcript: ENSMUST00000084313
AA Change: V106M

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

SMART Domains

Protein: ENSMUSP00000081339
Gene: ENSMUSG00000066061
AA Change: V106M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	50	326	2.3e-56	PFAM
Pfam:7TM_GPCR_Srsx	54	323	3.7e-8	PFAM
Pfam:7tm_1	60	309	2.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105035
AA Change: V106M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000100652
Gene: ENSMUSG00000073768
AA Change: V106M

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	38	307	6.4e-8	PFAM
Pfam:7tm_1	44	293	2.9e-31	PFAM
Pfam:7tm_4	142	286	6.7e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219094
AA Change: V122M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b8	G	A	6: 34,340,729 (GRCm39)	A209T	probably damaging	Het
Ccdc90b	G	A	7: 92,223,854 (GRCm39)	V117I	probably benign	Het
Cdkl2	A	T	5: 92,185,130 (GRCm39)	I87N	probably damaging	Het
Cfap57	T	A	4: 118,438,302 (GRCm39)	E863V	probably damaging	Het
Clca3a2	G	A	3: 144,790,701 (GRCm39)	S457L	possibly damaging	Het
Crim1	C	T	17: 78,658,227 (GRCm39)	T702I	probably damaging	Het
Cysltr1	C	A	X: 105,621,728 (GRCm39)	V253L	probably damaging	Het
Dgcr6	G	A	16: 17,883,038 (GRCm39)	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,226,362 (GRCm39)		probably null	Het
Dnm3	A	G	1: 161,838,471 (GRCm39)	S826P	probably damaging	Het
Dspp	A	G	5: 104,323,514 (GRCm39)	N219S	possibly damaging	Het
Dzip3	T	C	16: 48,795,914 (GRCm39)		probably benign	Het
Erc2	T	A	14: 27,375,028 (GRCm39)	L82Q	probably damaging	Het
Ercc6l	T	C	X: 101,188,275 (GRCm39)	T745A	probably benign	Het
Gata4	T	C	14: 63,437,910 (GRCm39)	T414A	probably benign	Het
Gmps	A	G	3: 63,921,773 (GRCm39)	D592G	probably damaging	Het
Grin3a	A	G	4: 49,702,868 (GRCm39)	Y873H	probably damaging	Het
Gsr	T	C	8: 34,175,569 (GRCm39)		probably benign	Het
Gtf2h1	T	C	7: 46,454,417 (GRCm39)	L133P	probably damaging	Het
Ifna5	A	C	4: 88,754,327 (GRCm39)	E189A	probably benign	Het
Irx5	A	G	8: 93,087,307 (GRCm39)	Y413C	probably damaging	Het
Kcnk3	A	G	5: 30,779,727 (GRCm39)	E259G	probably damaging	Het
Kcnt2	T	C	1: 140,282,299 (GRCm39)		probably benign	Het
Kif19a	A	G	11: 114,679,979 (GRCm39)	E772G	probably benign	Het
Klhdc7a	T	A	4: 139,693,121 (GRCm39)	T609S	probably benign	Het
Krt78	C	A	15: 101,856,853 (GRCm39)		probably benign	Het
Lca5	A	T	9: 83,305,170 (GRCm39)	I212N	probably damaging	Het
Lgr6	T	C	1: 134,929,429 (GRCm39)		probably benign	Het
Madd	T	G	2: 91,008,381 (GRCm39)	T174P	probably damaging	Het
Mcm9	A	G	10: 53,502,033 (GRCm39)	I184T	probably damaging	Het
Mlycd	G	A	8: 120,137,073 (GRCm39)	R431H	probably damaging	Het
Myh10	G	A	11: 68,692,994 (GRCm39)	A1393T	probably benign	Het
Myof	G	T	19: 37,926,361 (GRCm39)	Y1144*	probably null	Het
Nbeal2	G	A	9: 110,455,063 (GRCm39)	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,342,548 (GRCm39)	T366S	probably benign	Het
Nnat	T	C	2: 157,403,167 (GRCm39)	F36S	possibly damaging	Het
Nsd3	C	A	8: 26,181,143 (GRCm39)	P915T	probably damaging	Het
Or10k2	A	C	8: 84,268,015 (GRCm39)	M81L	possibly damaging	Het
Or1n1	A	T	2: 36,749,830 (GRCm39)	C177S	probably damaging	Het
Or2g25	A	G	17: 37,970,363 (GRCm39)	L287P	probably damaging	Het
Or4l1	G	A	14: 50,166,164 (GRCm39)	T279I	probably damaging	Het
Pkd1l3	A	G	8: 110,341,414 (GRCm39)	N89S	unknown	Het
Pkd2	T	C	5: 104,634,636 (GRCm39)	F556L	probably damaging	Het
Psen2	T	A	1: 180,062,626 (GRCm39)	M239L	probably damaging	Het
Rad50	A	G	11: 53,570,876 (GRCm39)	I794T	probably benign	Het
Ralgps1	G	A	2: 33,230,741 (GRCm39)	T14I	probably benign	Het
Rnpepl1	C	T	1: 92,843,629 (GRCm39)	P250S	probably damaging	Het
Skic8	T	C	9: 54,635,545 (GRCm39)	I19V	probably damaging	Het
Slc47a2	A	G	11: 61,227,067 (GRCm39)	V167A	possibly damaging	Het
Tmem161b	T	A	13: 84,432,112 (GRCm39)	V41D	probably damaging	Het
Vmn2r88	A	T	14: 51,651,611 (GRCm39)	E308D	probably benign	Het
Zfhx4	G	A	3: 5,476,903 (GRCm39)	E3148K	probably damaging	Het

Other mutations in Or10ak12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Or10ak12	APN	4	118,666,653 (GRCm39)	missense	probably damaging	0.98
IGL02483:Or10ak12	APN	4	118,666,696 (GRCm39)	missense	probably benign	0.01
R0058:Or10ak12	UTSW	4	118,666,677 (GRCm39)	missense	probably benign
R0069:Or10ak12	UTSW	4	118,666,887 (GRCm39)	missense	probably damaging	1.00
R0357:Or10ak12	UTSW	4	118,666,614 (GRCm39)	missense	probably damaging	1.00
R1274:Or10ak12	UTSW	4	118,666,593 (GRCm39)	missense	probably benign	0.01
R1432:Or10ak12	UTSW	4	118,666,435 (GRCm39)	missense	probably benign	0.00
R2305:Or10ak12	UTSW	4	118,666,058 (GRCm39)	missense	probably benign	0.35
R2368:Or10ak12	UTSW	4	118,667,019 (GRCm39)	missense	probably benign
R3842:Or10ak12	UTSW	4	118,666,452 (GRCm39)	missense	probably damaging	1.00
R3980:Or10ak12	UTSW	4	118,666,500 (GRCm39)	missense	probably benign	0.22
R4722:Or10ak12	UTSW	4	118,666,146 (GRCm39)	missense	probably damaging	0.99
R5074:Or10ak12	UTSW	4	118,666,057 (GRCm39)	missense	possibly damaging	0.82
R5439:Or10ak12	UTSW	4	118,666,560 (GRCm39)	missense	possibly damaging	0.95
R5930:Or10ak12	UTSW	4	118,666,575 (GRCm39)	missense	probably benign	0.01
R6917:Or10ak12	UTSW	4	118,666,326 (GRCm39)	missense	probably damaging	1.00
R7287:Or10ak12	UTSW	4	118,666,939 (GRCm39)	missense	probably benign	0.01
R7525:Or10ak12	UTSW	4	118,666,691 (GRCm39)	missense	probably damaging	0.99
R7717:Or10ak12	UTSW	4	118,666,130 (GRCm39)	missense	probably damaging	0.99
R8293:Or10ak12	UTSW	4	118,666,939 (GRCm39)	missense	probably benign	0.01
R8765:Or10ak12	UTSW	4	118,666,159 (GRCm39)	missense	probably benign	0.05
R8877:Or10ak12	UTSW	4	118,666,482 (GRCm39)	missense	probably damaging	0.98
R9165:Or10ak12	UTSW	4	118,666,195 (GRCm39)	nonsense	probably null
R9689:Or10ak12	UTSW	4	118,666,999 (GRCm39)	missense	probably benign
X0023:Or10ak12	UTSW	4	118,666,818 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16