Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00340:Or10a48'

12849

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or10a48

Ensembl Gene

ENSMUSG00000066241

Gene Name

olfactory receptor family 10 subfamily A member 48

Synonyms

Olfr514, MOR268-1, GA_x6K02T2PBJ9-11156311-11155379

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL00340

Quality Score

Status

Chromosome

Chromosomal Location

108424272-108425204 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108424280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 309 (V309I)

Ref Sequence

ENSEMBL: ENSMUSP00000081807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084754]

AlphaFold

Q8VFZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000084754
AA Change: V309I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000081807
Gene: ENSMUSG00000066241
AA Change: V309I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	3.9e-57	PFAM
Pfam:7tm_1	40	289	5e-21	PFAM

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	G	A	5: 89,849,525 (GRCm39)	H632Y	probably damaging	Het
Adgre5	T	A	8: 84,455,030 (GRCm39)	M221L	probably benign	Het
Apba2	A	T	7: 64,386,689 (GRCm39)	I439F	possibly damaging	Het
Arid1b	C	A	17: 5,371,559 (GRCm39)	N632K	probably damaging	Het
Bcas3	A	T	11: 85,256,417 (GRCm39)	I60L	probably damaging	Het
Brd9	T	C	13: 74,086,666 (GRCm39)	S56P	probably damaging	Het
Ccdc57	T	A	11: 120,751,295 (GRCm39)	D925V	possibly damaging	Het
Ccna1	A	G	3: 54,958,076 (GRCm39)	V143A	probably damaging	Het
Cdhr3	T	C	12: 33,102,208 (GRCm39)	T410A	probably benign	Het
Cimap3	A	G	3: 105,921,824 (GRCm39)	V33A	probably benign	Het
Ddx60	G	T	8: 62,411,680 (GRCm39)	D511Y	probably damaging	Het
Drc7	C	A	8: 95,782,629 (GRCm39)		probably benign	Het
Dysf	A	G	6: 84,118,933 (GRCm39)	E1290G	probably benign	Het
Fam168b	T	C	1: 34,875,883 (GRCm39)	M1V	probably null	Het
Farsa	A	G	8: 85,590,886 (GRCm39)	K208R	probably damaging	Het
Fnip2	A	G	3: 79,425,368 (GRCm39)		probably benign	Het
Gm17535	A	T	9: 3,035,111 (GRCm39)	H170L	probably benign	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gm5852	T	C	3: 93,634,501 (GRCm39)		noncoding transcript	Het
Gnb2	T	C	5: 137,528,968 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,373,494 (GRCm39)	N143S	probably damaging	Het
Hcn1	C	A	13: 117,739,513 (GRCm39)	Q92K	unknown	Het
Helb	T	C	10: 119,934,150 (GRCm39)	I678V	possibly damaging	Het
Hnrnpl	C	A	7: 28,512,798 (GRCm39)	A118D	probably damaging	Het
Klhl14	G	A	18: 21,784,921 (GRCm39)	P169S	probably benign	Het
Kndc1	T	C	7: 139,481,904 (GRCm39)		probably benign	Het
Lmod2	A	G	6: 24,598,051 (GRCm39)	E57G	probably damaging	Het
Lrch4	T	C	5: 137,636,009 (GRCm39)	I300T	possibly damaging	Het
Lrp6	A	G	6: 134,433,053 (GRCm39)	V1426A	probably benign	Het
Lrrc39	A	G	3: 116,364,630 (GRCm39)		probably benign	Het
Mamstr	G	A	7: 45,293,709 (GRCm39)	V262I	probably benign	Het
Mob1b	A	T	5: 88,904,014 (GRCm39)	T217S	probably benign	Het
Mocs3	G	A	2: 168,073,411 (GRCm39)	R286H	possibly damaging	Het
Mpo	A	T	11: 87,693,443 (GRCm39)	Q27L	probably benign	Het
Ncdn	A	T	4: 126,640,981 (GRCm39)	D506E	probably benign	Het
Noxa1	A	G	2: 24,984,914 (GRCm39)	I8T	probably benign	Het
Oma1	G	T	4: 103,176,565 (GRCm39)	A110S	probably benign	Het
Or13a18	T	A	7: 140,190,666 (GRCm39)	S196T	probably damaging	Het
Or8b4	A	G	9: 37,830,346 (GRCm39)	Y131C	probably damaging	Het
Pde4a	A	C	9: 21,122,357 (GRCm39)	K694T	probably benign	Het
Phc1	A	G	6: 122,299,958 (GRCm39)		probably benign	Het
Pias1	A	G	9: 62,830,578 (GRCm39)	V187A	probably damaging	Het
Pigf	C	A	17: 87,327,876 (GRCm39)	L130F	probably null	Het
Pkd1	G	T	17: 24,799,069 (GRCm39)	V2763L	probably damaging	Het
Potefam1	G	T	2: 111,051,107 (GRCm39)	L230I	probably damaging	Het
Ppp1r8	T	C	4: 132,561,992 (GRCm39)	Y76C	probably damaging	Het
Ppp6r3	C	A	19: 3,568,324 (GRCm39)	G158V	probably damaging	Het
Ptpn13	A	G	5: 103,698,924 (GRCm39)	I1136V	probably damaging	Het
Ptprq	T	C	10: 107,412,790 (GRCm39)	I1770V	probably damaging	Het
Rhpn2	A	T	7: 35,070,185 (GRCm39)	I148F	probably damaging	Het
Stard3	T	C	11: 98,268,285 (GRCm39)	Y239H	probably damaging	Het
Stau1	T	C	2: 166,792,729 (GRCm39)	Y412C	probably benign	Het
Sucnr1	A	G	3: 59,994,053 (GRCm39)	I194V	probably benign	Het
Tanc1	A	G	2: 59,621,185 (GRCm39)	T335A	possibly damaging	Het
Tmem126a	T	C	7: 90,101,963 (GRCm39)	T79A	probably benign	Het
Trav9-2	A	T	14: 53,828,840 (GRCm39)	Y70F	probably benign	Het
Tspear	A	G	10: 77,709,070 (GRCm39)	E432G	probably benign	Het
Ube2o	T	C	11: 116,435,580 (GRCm39)	R403G	probably benign	Het
Unc80	C	A	1: 66,645,618 (GRCm39)	S1431R	possibly damaging	Het
Usp24	G	A	4: 106,258,336 (GRCm39)	C1578Y	probably damaging	Het
Vsig10	A	T	5: 117,489,652 (GRCm39)	M473L	probably benign	Het
Xpot	T	A	10: 121,441,549 (GRCm39)	M559L	probably benign	Het

Other mutations in Or10a48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Or10a48	APN	7	108,424,534 (GRCm39)	missense	probably benign	0.29
IGL02079:Or10a48	APN	7	108,425,143 (GRCm39)	missense	probably damaging	0.99
IGL02330:Or10a48	APN	7	108,425,206 (GRCm39)	unclassified	probably benign
IGL02662:Or10a48	APN	7	108,424,952 (GRCm39)	missense	probably benign	0.16
IGL02713:Or10a48	APN	7	108,424,801 (GRCm39)	missense	probably damaging	1.00
R1158:Or10a48	UTSW	7	108,424,385 (GRCm39)	missense	probably damaging	1.00
R1610:Or10a48	UTSW	7	108,425,131 (GRCm39)	missense	probably benign
R1638:Or10a48	UTSW	7	108,424,442 (GRCm39)	missense	probably benign	0.03
R4242:Or10a48	UTSW	7	108,424,666 (GRCm39)	missense	probably benign
R4630:Or10a48	UTSW	7	108,424,802 (GRCm39)	missense	probably damaging	1.00
R5042:Or10a48	UTSW	7	108,424,678 (GRCm39)	missense	possibly damaging	0.72
R5967:Or10a48	UTSW	7	108,424,921 (GRCm39)	missense	probably benign	0.12
R7180:Or10a48	UTSW	7	108,425,186 (GRCm39)	missense	probably damaging	0.98
Z1088:Or10a48	UTSW	7	108,425,103 (GRCm39)	nonsense	probably null

Posted On

2012-12-06