Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02309:Or51af1'

287730

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or51af1

Ensembl Gene

ENSMUSG00000046396

Gene Name

olfactory receptor family 51 subfamily AF member 1

Synonyms

GA_x6K02T2PBJ9-6207735-6206776, Olfr609, MOR9-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL02309

Quality Score

Status

Chromosome

Chromosomal Location

103141124-103142083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103141206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 293 (I293K)

Ref Sequence

ENSEMBL: ENSMUSP00000149804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055787] [ENSMUST00000216075] [ENSMUST00000216360]

AlphaFold

E9Q4X7

Predicted Effect

probably damaging
Transcript: ENSMUST00000055787
AA Change: I293K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051749
Gene: ENSMUSG00000046396
AA Change: I293K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	308	1.4e-119	PFAM
Pfam:7TM_GPCR_Srsx	34	169	2.2e-10	PFAM
Pfam:7tm_1	40	291	3.6e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216075
AA Change: I293K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216360
AA Change: I293K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,193,125 (GRCm39)	F111S	probably benign	Het
Afg1l	C	A	10: 42,330,374 (GRCm39)	V98F	possibly damaging	Het
Agk	T	A	6: 40,353,210 (GRCm39)	D191E	possibly damaging	Het
Akap5	A	G	12: 76,375,629 (GRCm39)	K354E	possibly damaging	Het
Aplp2	A	T	9: 31,078,979 (GRCm39)	M323K	possibly damaging	Het
Arhgap23	T	C	11: 97,356,827 (GRCm39)		probably benign	Het
Asl	A	G	5: 130,048,622 (GRCm39)	Y30H	probably damaging	Het
Asxl3	T	A	18: 22,655,510 (GRCm39)	H1173Q	probably benign	Het
Celsr2	C	T	3: 108,303,327 (GRCm39)	R2472H	probably damaging	Het
Clip1	T	A	5: 123,755,763 (GRCm39)	H950L	probably damaging	Het
Cx3cl1	A	T	8: 95,506,660 (GRCm39)	T222S	probably benign	Het
Cyp4a14	T	A	4: 115,348,829 (GRCm39)	N273Y	probably damaging	Het
Ddx52	T	A	11: 83,839,304 (GRCm39)	S214T	probably damaging	Het
Dennd2d	T	A	3: 106,402,284 (GRCm39)	M318K	probably benign	Het
Dock3	A	T	9: 106,790,351 (GRCm39)	D1E	probably damaging	Het
Farp1	C	T	14: 121,480,928 (GRCm39)	T443I	probably benign	Het
Gm2381	C	T	7: 42,472,033 (GRCm39)		probably benign	Het
Gpr87	T	A	3: 59,086,975 (GRCm39)	I178F	possibly damaging	Het
Grin2b	C	T	6: 135,713,470 (GRCm39)	E804K	probably damaging	Het
Gtf2h1	T	C	7: 46,465,812 (GRCm39)	L421P	probably damaging	Het
Haghl	T	G	17: 26,003,638 (GRCm39)	H56P	probably damaging	Het
Heatr3	T	C	8: 88,893,700 (GRCm39)	L489P	probably damaging	Het
Ighv6-6	A	T	12: 114,398,534 (GRCm39)	H77Q	probably benign	Het
Kdm2b	A	G	5: 123,085,883 (GRCm39)	S243P	probably damaging	Het
Lamc3	T	C	2: 31,804,616 (GRCm39)		probably benign	Het
Lgr4	T	C	2: 109,842,880 (GRCm39)		probably benign	Het
Lhx3	T	C	2: 26,091,385 (GRCm39)	Q308R	probably benign	Het
Lonp2	G	A	8: 87,361,491 (GRCm39)	E223K	probably damaging	Het
Lta4h	T	C	10: 93,310,352 (GRCm39)	F407L	probably damaging	Het
Mndal	C	T	1: 173,702,021 (GRCm39)	G94R	probably damaging	Het
Nrxn3	A	G	12: 89,943,175 (GRCm39)	N101S	probably damaging	Het
Or14c41	T	C	7: 86,234,705 (GRCm39)	V74A	possibly damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Or8b48	A	G	9: 38,492,729 (GRCm39)	N52S	probably damaging	Het
Or8d23	A	G	9: 38,842,348 (GRCm39)	N294D	probably damaging	Het
Pknox1	T	G	17: 31,809,683 (GRCm39)	F96V	probably benign	Het
Psg25	T	G	7: 18,260,349 (GRCm39)	Q183P	probably damaging	Het
Ptgs2	A	G	1: 149,981,307 (GRCm39)	Y530C	probably damaging	Het
Sema3e	T	A	5: 14,274,404 (GRCm39)	D218E	probably damaging	Het
Shank1	G	A	7: 43,962,266 (GRCm39)	G46R	unknown	Het
Sidt1	T	C	16: 44,075,343 (GRCm39)	I672V	probably benign	Het
Skic3	A	G	13: 76,275,166 (GRCm39)	T238A	possibly damaging	Het
Slco1b2	T	A	6: 141,618,007 (GRCm39)	S486T	probably damaging	Het
Smchd1	T	C	17: 71,750,898 (GRCm39)	H340R	probably benign	Het
Smoc2	C	A	17: 14,595,789 (GRCm39)		probably benign	Het
Snapc1	A	G	12: 74,014,801 (GRCm39)	Y102C	probably damaging	Het
Spo11	A	G	2: 172,821,744 (GRCm39)	R20G	probably damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Tmem229b-ps	T	C	10: 53,351,466 (GRCm39)		noncoding transcript	Het
Trim12c	T	A	7: 103,994,163 (GRCm39)	E230D	possibly damaging	Het
Ttc17	G	T	2: 94,173,006 (GRCm39)	N796K	probably benign	Het
Ttn	A	G	2: 76,709,443 (GRCm39)		probably benign	Het
Ublcp1	A	T	11: 44,349,155 (GRCm39)		probably benign	Het
Usf3	C	T	16: 44,021,026 (GRCm39)	T11M	probably benign	Het
Vmn2r115	T	A	17: 23,564,113 (GRCm39)	M95K	probably benign	Het
Wapl	A	G	14: 34,466,820 (GRCm39)	T1160A	probably damaging	Het

Other mutations in Or51af1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02213:Or51af1	APN	7	103,141,695 (GRCm39)	missense	probably benign	0.05
R0782:Or51af1	UTSW	7	103,141,722 (GRCm39)	missense	probably damaging	0.99
R0988:Or51af1	UTSW	7	103,141,954 (GRCm39)	missense	probably damaging	1.00
R4013:Or51af1	UTSW	7	103,141,840 (GRCm39)	missense	probably benign
R4600:Or51af1	UTSW	7	103,141,788 (GRCm39)	missense	probably damaging	0.99
R4735:Or51af1	UTSW	7	103,141,267 (GRCm39)	missense	possibly damaging	0.61
R4941:Or51af1	UTSW	7	103,141,458 (GRCm39)	missense	probably damaging	1.00
R5204:Or51af1	UTSW	7	103,141,747 (GRCm39)	missense	probably damaging	1.00
R5281:Or51af1	UTSW	7	103,141,180 (GRCm39)	missense	probably benign	0.00
R5941:Or51af1	UTSW	7	103,141,927 (GRCm39)	missense	possibly damaging	0.95
R6319:Or51af1	UTSW	7	103,141,932 (GRCm39)	missense	possibly damaging	0.84
R6505:Or51af1	UTSW	7	103,141,858 (GRCm39)	missense	probably damaging	1.00
R7258:Or51af1	UTSW	7	103,141,796 (GRCm39)	missense	probably damaging	1.00
R8680:Or51af1	UTSW	7	103,142,029 (GRCm39)	missense	probably damaging	1.00
R8709:Or51af1	UTSW	7	103,141,519 (GRCm39)	missense	probably benign
R8994:Or51af1	UTSW	7	103,141,800 (GRCm39)	missense	probably benign	0.03
X0065:Or51af1	UTSW	7	103,141,125 (GRCm39)	makesense	probably null
Z1177:Or51af1	UTSW	7	103,141,817 (GRCm39)	missense	probably benign

Posted On

2015-04-16