Mutagenetix > Incidental Mutation

Incidental Mutation 'R8680:Or51af1'

661676

Institutional Source

Beutler Lab

Gene Symbol

Or51af1

Ensembl Gene

ENSMUSG00000046396

Gene Name

olfactory receptor family 51 subfamily AF member 1

Synonyms

GA_x6K02T2PBJ9-6207735-6206776, Olfr609, MOR9-1

MMRRC Submission

068535-MU

Accession Numbers

Essential gene?

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

Stock #

R8680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103141124-103142083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103142029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 19 (L19F)

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: L19F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051749
Gene: ENSMUSG00000046396
AA Change: L19F

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: L19F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216360
AA Change: L19F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

99% (78/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 90,852,551 (GRCm39)	Y195C	probably damaging	Het
Abcb1a	T	A	5: 8,735,371 (GRCm39)	F159L	probably damaging	Het
Adam6b	A	G	12: 113,454,371 (GRCm39)	N396S	probably benign	Het
Adamts15	T	C	9: 30,823,055 (GRCm39)	M338V	possibly damaging	Het
Adamts7	T	A	9: 90,077,321 (GRCm39)	H1329Q	probably damaging	Het
Aim2	C	T	1: 173,289,786 (GRCm39)	P243L	probably damaging	Het
Ankdd1a	T	C	9: 65,412,418 (GRCm39)	D311G	probably damaging	Het
Apon	A	T	10: 128,090,428 (GRCm39)	E35D	probably benign	Het
Atp1a4	T	C	1: 172,078,566 (GRCm39)	D224G	probably damaging	Het
Atp6v0a1	T	A	11: 100,953,229 (GRCm39)	*839R	probably null	Het
Bco2	A	G	9: 50,461,878 (GRCm39)	L42P	probably damaging	Het
Bicral	T	A	17: 47,141,873 (GRCm39)		probably benign	Het
Ccna1	T	C	3: 54,955,878 (GRCm39)	Q306R	probably benign	Het
Cep152	G	T	2: 125,406,131 (GRCm39)	S1467*	probably null	Het
Cfap44	T	A	16: 44,225,085 (GRCm39)	V110E	probably damaging	Het
Clip2	G	A	5: 134,531,462 (GRCm39)	A781V	probably benign	Het
Cps1	A	T	1: 67,243,772 (GRCm39)	I1083F	probably damaging	Het
Cux1	A	G	5: 136,336,710 (GRCm39)	V934A	possibly damaging	Het
Depdc5	T	C	5: 33,101,382 (GRCm39)	F891L	possibly damaging	Het
Dnai7	T	A	6: 145,127,542 (GRCm39)	I456F	probably benign	Het
Dnajc13	A	G	9: 104,057,338 (GRCm39)	V1554A	probably benign	Het
Echs1	A	T	7: 139,690,499 (GRCm39)	M191K	probably damaging	Het
Eif6	T	A	2: 155,664,772 (GRCm39)	D238V	probably benign	Het
Fat2	G	A	11: 55,144,692 (GRCm39)	L4061F	probably benign	Het
Fat3	T	C	9: 15,908,703 (GRCm39)	D2433G	probably damaging	Het
Flt3	A	G	5: 147,320,265 (GRCm39)	V33A	probably benign	Het
Garin2	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,762,057 (GRCm39)		probably benign	Het
Gpr155	T	C	2: 73,174,039 (GRCm39)	E790G	probably damaging	Het
Ighv1-67	A	T	12: 115,567,861 (GRCm39)	V17E	probably damaging	Het
Klra9	T	A	6: 130,165,639 (GRCm39)	R125S	probably damaging	Het
Leo1	T	C	9: 75,353,277 (GRCm39)		probably null	Het
Map2	G	T	1: 66,460,872 (GRCm39)	R1556L	probably damaging	Het
Megf8	A	G	7: 25,059,166 (GRCm39)		probably null	Het
Meikin	T	C	11: 54,317,477 (GRCm39)	I426T	possibly damaging	Het
Muc16	A	T	9: 18,556,015 (GRCm39)	V3426E	unknown	Het
Or4a15	T	A	2: 89,193,065 (GRCm39)	Y236F	probably benign	Het
Or52n2c	A	G	7: 104,574,620 (GRCm39)	L117P	probably damaging	Het
Or7e168	T	G	9: 19,720,105 (GRCm39)	S164A	possibly damaging	Het
Or8k25	T	C	2: 86,243,935 (GRCm39)	I154V	probably benign	Het
Or9s13	T	C	1: 92,547,643 (GRCm39)	V5A	probably benign	Het
Otogl	A	G	10: 107,747,936 (GRCm39)		probably null	Het
Palm3	T	C	8: 84,756,504 (GRCm39)	L672P	probably damaging	Het
Perm1	A	G	4: 156,302,091 (GRCm39)	T212A	probably benign	Het
Poc1a	T	C	9: 106,226,960 (GRCm39)	M400T	probably benign	Het
Pou6f2	T	A	13: 18,414,196 (GRCm39)	Q193L	unknown	Het
Ppl	C	T	16: 4,905,300 (GRCm39)	R1665H	probably benign	Het
Ppp4r3b	T	C	11: 29,123,449 (GRCm39)		probably null	Het
Ptger1	T	C	8: 84,394,654 (GRCm39)	S44P	probably damaging	Het
Pzp	T	C	6: 128,473,009 (GRCm39)	T787A	probably benign	Het
Rab44	A	T	17: 29,358,642 (GRCm39)	R277*	probably null	Het
Rasgef1a	T	A	6: 118,064,088 (GRCm39)	I334K	probably damaging	Het
Rfx1	T	C	8: 84,818,084 (GRCm39)	V554A	possibly damaging	Het
Ripk1	T	A	13: 34,214,032 (GRCm39)	I518K	possibly damaging	Het
Rpl22	A	G	4: 152,416,763 (GRCm39)	Y90C	probably damaging	Het
Rps27a	C	A	11: 29,495,998 (GRCm39)	R118L	probably benign	Het
Scmh1	T	A	4: 120,319,331 (GRCm39)	S19T	probably benign	Het
Scn10a	C	T	9: 119,520,509 (GRCm39)		probably null	Het
Sema4c	A	T	1: 36,589,867 (GRCm39)	S496T	probably benign	Het
Serpina3i	T	C	12: 104,231,387 (GRCm39)	V8A	possibly damaging	Het
Sis	G	A	3: 72,867,628 (GRCm39)	T139M	probably damaging	Het
Skic3	A	T	13: 76,303,587 (GRCm39)	H1227L	probably benign	Het
Slc45a2	T	A	15: 11,000,972 (GRCm39)	S24T	probably benign	Het
Slc5a11	A	G	7: 122,866,975 (GRCm39)	I423M	probably benign	Het
Slc7a10	G	A	7: 34,885,997 (GRCm39)	G31S	probably benign	Het
Sowahc	A	G	10: 59,059,001 (GRCm39)	N379S	probably benign	Het
Stat5a	T	C	11: 100,774,714 (GRCm39)	M741T	unknown	Het
Tcf15	T	C	2: 151,986,020 (GRCm39)	S159P	probably benign	Het
Tdrd5	C	A	1: 156,098,788 (GRCm39)	R669L	possibly damaging	Het
Tln1	T	C	4: 43,553,041 (GRCm39)	E350G	possibly damaging	Het
Trim12c	T	G	7: 103,997,271 (GRCm39)	N95T		Het
Urb1	T	C	16: 90,571,513 (GRCm39)	T1099A	probably benign	Het
Vmn1r44	T	A	6: 89,870,578 (GRCm39)	V108D	probably damaging	Het
Vmn2r65	A	G	7: 84,589,388 (GRCm39)	Y843H	probably benign	Het
Vmn2r68	A	G	7: 84,871,321 (GRCm39)	I654T	possibly damaging	Het
Vps13a	T	C	19: 16,623,270 (GRCm39)	N2797S	possibly damaging	Het
Wscd2	T	C	5: 113,712,235 (GRCm39)	Y385H	probably damaging	Het
Xdh	T	C	17: 74,229,500 (GRCm39)	I318V	probably benign	Het
Xrcc3	T	A	12: 111,774,313 (GRCm39)	K172M	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
IGL02309:Or51af1	APN	7	103,141,206 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CCCATCATATAGATCGTCAGCATG -3'
(R):5'- GCTGTGATAAAGTAGATCATGGATG -3'

Sequencing Primer
(F):5'- TCATATAGATCGTCAGCATGGTAGGC -3'
(R):5'- TGTGATAGAAACATTTTGAAGAGTCC -3'

Posted On

2021-03-08