Mutagenetix > Incidental Mutation

Incidental Mutation 'R5481:Or8b51'

434332

Institutional Source

Beutler Lab

Gene Symbol

Or8b51

Ensembl Gene

ENSMUSG00000094701

Gene Name

olfactory receptor family 8 subfamily B member 51

Synonyms

Olfr916, MOR168-1, GA_x6K02T2PVTD-32360710-32359778

MMRRC Submission

043042-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.318) question?

Stock #

R5481 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38568754-38569686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38568916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 257 (F257L)

Ref Sequence

ENSEMBL: ENSMUSP00000149578 (fasta)

Gene Model

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

AlphaFold

Q8VG53

Predicted Effect

probably benign
Transcript: ENSMUST00000081196
AA Change: F257L

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

SMART Domains

Protein: ENSMUSP00000079959
Gene: ENSMUSG00000094701
AA Change: F257L

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 benign
Transcript: ENSMUST00000213714
AA Change: F257L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000214093
AA Change: F257L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215291

Coding Region Coverage

1x: 99.1%
3x: 97.6%
10x: 95.1%
20x: 90.0%

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
4930522H14Rik	A	G	4: 109,362,759 (GRCm39)	S187P	probably damaging	Het
Aass	C	A	6: 23,113,475 (GRCm39)	V282L	probably benign	Het
Adh6a	G	T	3: 138,031,719 (GRCm39)	V204F	probably damaging	Het
Adrm1b	A	G	3: 92,336,658 (GRCm39)	S15P	possibly damaging	Het
Aspm	A	G	1: 139,384,799 (GRCm39)	K148E	possibly damaging	Het
Atp12a	A	T	14: 56,610,846 (GRCm39)	D330V	possibly damaging	Het
Barhl1	A	G	2: 28,805,352 (GRCm39)	Y114H	probably damaging	Het
BC106179	T	A	16: 23,042,918 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,570,900 (GRCm39)	L792P	probably benign	Het
Calcoco2	A	G	11: 95,998,369 (GRCm39)	V18A	probably damaging	Het
Chpf2	A	T	5: 24,794,340 (GRCm39)	H170L	probably damaging	Het
Chrna1	T	A	2: 73,397,270 (GRCm39)	I340F	possibly damaging	Het
Ckap5	A	T	2: 91,402,792 (GRCm39)	I690F	possibly damaging	Het
Col10a1	A	G	10: 34,271,660 (GRCm39)	H544R	probably benign	Het
Cyp2b19	A	C	7: 26,466,246 (GRCm39)	T350P	probably damaging	Het
Dgkq	A	G	5: 108,796,676 (GRCm39)		probably null	Het
Dnah1	A	G	14: 31,030,828 (GRCm39)	V443A	possibly damaging	Het
Erbb3	T	C	10: 128,408,349 (GRCm39)	D855G	probably damaging	Het
Fam3c	T	C	6: 22,321,357 (GRCm39)	D138G	probably benign	Het
Fen1	A	G	19: 10,178,022 (GRCm39)	C141R	probably damaging	Het
Flnc	G	A	6: 29,441,216 (GRCm39)	G390D	probably damaging	Het
Fnip1	C	A	11: 54,393,470 (GRCm39)	D635E	probably benign	Het
Fry	A	T	5: 150,183,784 (GRCm39)	L17F	probably benign	Het
Fsip2	T	C	2: 82,810,230 (GRCm39)	I2183T	probably benign	Het
Gfpt1	T	A	6: 87,027,951 (GRCm39)	I19N	probably damaging	Het
Hus1b	T	C	13: 31,130,942 (GRCm39)	D239G	probably benign	Het
Kif1a	T	C	1: 92,987,966 (GRCm39)	K546R	probably benign	Het
Kmt2d	A	G	15: 98,759,886 (GRCm39)	V1124A	unknown	Het
Krtap16-1	A	G	11: 99,876,153 (GRCm39)	I417T	probably damaging	Het
Manba	A	T	3: 135,230,317 (GRCm39)	N297Y	possibly damaging	Het
Mblac1	A	G	5: 138,193,078 (GRCm39)	D140G	probably damaging	Het
Mlh1	T	C	9: 111,058,905 (GRCm39)		probably null	Het
Morc1	T	A	16: 48,381,848 (GRCm39)		probably null	Het
Morc3	C	A	16: 93,659,543 (GRCm39)	P449Q	probably damaging	Het
Mtr	T	C	13: 12,203,041 (GRCm39)		probably null	Het
Mylk	T	A	16: 34,741,974 (GRCm39)	C829S	probably benign	Het
Myo1d	A	G	11: 80,553,921 (GRCm39)	I520T	possibly damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nos1	A	T	5: 118,005,819 (GRCm39)	I180F	probably benign	Het
Ntsr1	C	T	2: 180,183,313 (GRCm39)	T341M	possibly damaging	Het
P2rx7	A	G	5: 122,818,883 (GRCm39)	D435G	possibly damaging	Het
Peli2	C	A	14: 48,490,090 (GRCm39)	N136K	probably damaging	Het
Pigt	C	A	2: 164,348,342 (GRCm39)	P429H	probably damaging	Het
Pik3r2	T	C	8: 71,222,408 (GRCm39)	I515V	probably benign	Het
Pkhd1l1	A	G	15: 44,422,042 (GRCm39)	Y3104C	probably damaging	Het
Ppp1r16a	A	C	15: 76,575,221 (GRCm39)	E43A	probably damaging	Het
Ptpn18	T	C	1: 34,510,744 (GRCm39)	L260P	possibly damaging	Het
Scaf11	A	T	15: 96,318,498 (GRCm39)	S355R	probably damaging	Het
Sema4a	A	T	3: 88,360,347 (GRCm39)	Y77*	probably null	Het
Serpinb9b	T	C	13: 33,222,076 (GRCm39)	V230A	possibly damaging	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc22a30	T	C	19: 8,314,201 (GRCm39)	N495S	probably benign	Het
Srcap	G	A	7: 127,131,369 (GRCm39)	G836D	probably damaging	Het
Stard4	A	C	18: 33,338,298 (GRCm39)	C137W	probably benign	Het
Stat6	A	G	10: 127,483,695 (GRCm39)		probably null	Het
Steap3	T	C	1: 120,169,454 (GRCm39)	D243G	probably benign	Het
Taf1c	A	G	8: 120,325,979 (GRCm39)	S628P	probably damaging	Het
Unkl	C	T	17: 25,420,146 (GRCm39)	Q13*	probably null	Het
Usp38	A	G	8: 81,719,952 (GRCm39)	S426P	possibly damaging	Het
Vmn2r8	T	C	5: 108,949,636 (GRCm39)	T404A	probably benign	Het
Washc1	T	C	17: 66,425,860 (GRCm39)	V425A	probably benign	Het
Zfyve9	A	G	4: 108,501,546 (GRCm39)	I590T	probably 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
IGL02313:Or8b51	APN	9	38,569,362 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCCAAACTAAGATGCATAAAGTC -3'
(R):5'- CTGAACTTCTGTGATGCCAAC -3'

Sequencing Primer
(F):5'- GTCAACACCATACAGTTAAATGTTCC -3'
(R):5'- GAACTTCTGTGATGCCAACAAAATC -3'

Posted On

2016-10-06