Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Or8b51'

287913

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8b51

Ensembl Gene

ENSMUSG00000094701

Gene Name

olfactory receptor family 8 subfamily B member 51

Synonyms

Olfr916, MOR168-1, GA_x6K02T2PVTD-32360710-32359778

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.344) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

38568754-38569686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38569362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 109 (I109F)

Ref Sequence

ENSEMBL: ENSMUSP00000149578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081196] [ENSMUST00000213714] [ENSMUST00000214093] [ENSMUST00000215291]

AlphaFold

Q8VG53

Predicted Effect

probably damaging
Transcript: ENSMUST00000081196
AA Change: I109F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079959
Gene: ENSMUSG00000094701
AA Change: I109F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.3e-45	PFAM
Pfam:7tm_1	41	290	1.3e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213714
AA Change: I109F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214093
AA Change: I109F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000215291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217596

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
Ankrd13c	T	A	3: 157,653,571 (GRCm39)	N136K	probably damaging	Het
Aph1b	A	T	9: 66,697,955 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,583,718 (GRCm39)	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,857,160 (GRCm39)	N400S	probably damaging	Het
Brca2	C	A	5: 150,462,126 (GRCm39)	S630Y	probably damaging	Het
Chd6	T	A	2: 160,807,595 (GRCm39)	E1873V	probably damaging	Het
Chrna10	T	C	7: 101,761,236 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,739,328 (GRCm39)	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,639,770 (GRCm39)	N264S	probably damaging	Het
Cyria	A	G	12: 12,414,752 (GRCm39)	T248A	possibly damaging	Het
Dgkg	A	G	16: 22,388,980 (GRCm39)		probably benign	Het
Dpysl2	T	G	14: 67,061,839 (GRCm39)	M256L	probably benign	Het
Dsp	G	T	13: 38,380,499 (GRCm39)	E1816*	probably null	Het
Fam13b	T	C	18: 34,587,709 (GRCm39)	K530E	probably damaging	Het
Fastk	T	C	5: 24,648,090 (GRCm39)	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,166,420 (GRCm39)	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,669,718 (GRCm39)	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,343,617 (GRCm39)	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,235,700 (GRCm39)	T167A	probably benign	Het
Igsf10	A	G	3: 59,238,111 (GRCm39)	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,865 (GRCm39)		probably null	Het
Krt31	A	G	11: 99,939,222 (GRCm39)	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,493,070 (GRCm39)		probably benign	Het
Mfn2	T	A	4: 147,969,947 (GRCm39)	I375F	probably damaging	Het
Mfrp	A	T	9: 44,014,171 (GRCm39)	I180F	probably damaging	Het
Msh3	T	C	13: 92,485,820 (GRCm39)	E168G	possibly damaging	Het
Naa16	A	T	14: 79,622,108 (GRCm39)	V77D	probably damaging	Het
Nav2	T	C	7: 49,208,521 (GRCm39)	S1570P	probably damaging	Het
Niban3	A	G	8: 72,055,504 (GRCm39)	R305G	possibly damaging	Het
Numa1	C	T	7: 101,649,439 (GRCm39)	R1057*	probably null	Het
Nup210l	G	A	3: 90,030,099 (GRCm39)	A271T	probably damaging	Het
Ogdh	T	C	11: 6,305,400 (GRCm39)	V965A	probably damaging	Het
Or10h28	C	A	17: 33,488,639 (GRCm39)	Q314K	probably benign	Het
Or4m1	A	T	14: 50,557,473 (GRCm39)	V273E	probably damaging	Het
Or6c219	A	G	10: 129,781,772 (GRCm39)	L53P	probably damaging	Het
Or7g21	A	T	9: 19,032,671 (GRCm39)	N140I	probably damaging	Het
Pdp2	A	T	8: 105,321,531 (GRCm39)	Q460L	probably benign	Het
Pex5l	T	C	3: 33,047,141 (GRCm39)	T270A	probably benign	Het
Pkp4	C	T	2: 59,140,598 (GRCm39)	Q435*	probably null	Het
Prss32	G	A	17: 24,075,096 (GRCm39)	V149M	probably benign	Het
Riox2	C	A	16: 59,309,780 (GRCm39)	P378Q	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,781,521 (GRCm39)	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,652,321 (GRCm39)	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,894,387 (GRCm39)	G54*	probably null	Het
Slc24a5	C	T	2: 124,927,567 (GRCm39)		probably benign	Het
Tex101	C	T	7: 24,367,750 (GRCm39)	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,501,956 (GRCm39)	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,492,388 (GRCm39)	E382G	probably damaging	Het
Uggt1	A	T	1: 36,223,565 (GRCm39)	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,214,376 (GRCm39)	I259V	probably damaging	Het
Xpo1	T	A	11: 23,227,065 (GRCm39)	N131K	probably damaging	Het
Zfp579	C	T	7: 4,997,432 (GRCm39)	V160M	probably benign	Het
Zfp697	A	G	3: 98,332,766 (GRCm39)	D64G	probably benign	Het
Zfp974	T	C	7: 27,611,678 (GRCm39)	T16A	possibly damaging	Het

Other mutations in Or8b51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01965:Or8b51	APN	9	38,568,918 (GRCm39)	missense	probably benign	0.00
IGL03221:Or8b51	APN	9	38,569,661 (GRCm39)	missense	probably damaging	0.99
R0479:Or8b51	UTSW	9	38,569,478 (GRCm39)	missense	probably damaging	1.00
R1507:Or8b51	UTSW	9	38,569,310 (GRCm39)	missense	probably damaging	1.00
R1521:Or8b51	UTSW	9	38,569,014 (GRCm39)	missense	probably damaging	0.99
R1860:Or8b51	UTSW	9	38,569,661 (GRCm39)	missense	probably damaging	0.99
R3107:Or8b51	UTSW	9	38,569,307 (GRCm39)	missense	possibly damaging	0.48
R3964:Or8b51	UTSW	9	38,569,023 (GRCm39)	missense	probably benign	0.42
R3965:Or8b51	UTSW	9	38,569,023 (GRCm39)	missense	probably benign	0.42
R4419:Or8b51	UTSW	9	38,569,365 (GRCm39)	missense	probably benign	0.01
R5249:Or8b51	UTSW	9	38,569,374 (GRCm39)	missense	possibly damaging	0.88
R5481:Or8b51	UTSW	9	38,568,916 (GRCm39)	missense	probably benign	0.00
R6299:Or8b51	UTSW	9	38,569,073 (GRCm39)	missense	possibly damaging	0.94
R6555:Or8b51	UTSW	9	38,569,585 (GRCm39)	missense	probably benign	0.00
R6702:Or8b51	UTSW	9	38,569,073 (GRCm39)	missense	possibly damaging	0.94
R6703:Or8b51	UTSW	9	38,569,073 (GRCm39)	missense	possibly damaging	0.94
R6851:Or8b51	UTSW	9	38,569,481 (GRCm39)	missense	probably benign	0.31
R6895:Or8b51	UTSW	9	38,569,385 (GRCm39)	missense	probably damaging	0.97
R8688:Or8b51	UTSW	9	38,569,047 (GRCm39)	missense	probably benign	0.24
R8985:Or8b51	UTSW	9	38,569,621 (GRCm39)	nonsense	probably null
R9259:Or8b51	UTSW	9	38,569,642 (GRCm39)	splice site	probably benign
R9292:Or8b51	UTSW	9	38,569,071 (GRCm39)	missense	probably damaging	1.00
R9634:Or8b51	UTSW	9	38,568,869 (GRCm39)	missense	probably benign	0.06
R9641:Or8b51	UTSW	9	38,568,915 (GRCm39)	missense	probably benign	0.00
R9772:Or8b51	UTSW	9	38,568,964 (GRCm39)	nonsense	probably null

Posted On

2015-04-16