Mutagenetix > Incidental Mutation

Incidental Mutation 'R4850:Or8u9'

373445

Institutional Source

Beutler Lab

Gene Symbol

Or8u9

Ensembl Gene

ENSMUSG00000075200

Gene Name

olfactory receptor family 8 subfamily U member 9

Synonyms

GA_x6K02T2Q125-47640742-47639798, MOR185-4, Olfr1044

MMRRC Submission

042462-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R4850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86001215-86002159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86002015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 49 (I49F)

Ref Sequence

ENSEMBL: ENSMUSP00000150199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099906] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215171] [ENSMUST00000216028]

AlphaFold

Q8VGR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000099906
AA Change: I49F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097490
Gene: ENSMUSG00000075200
AA Change: I49F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.7e-59	PFAM
Pfam:7tm_1	41	290	2.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213886

Predicted Effect

probably benign
Transcript: ENSMUST00000213949

Predicted Effect

probably damaging
Transcript: ENSMUST00000215171
AA Change: I49F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215739

Predicted Effect

probably benign
Transcript: ENSMUST00000216028

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (79/80)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,709,429 (GRCm39)	A42T	probably benign	Het
Acsf3	T	C	8: 123,544,175 (GRCm39)	V551A	probably damaging	Het
Adgrl2	G	A	3: 148,564,656 (GRCm39)	T304I	probably damaging	Het
Akr1d1	A	G	6: 37,531,522 (GRCm39)		probably null	Het
Ankrd17	A	T	5: 90,412,645 (GRCm39)	H1226Q	probably damaging	Het
Arap1	T	C	7: 101,047,998 (GRCm39)	I847T	probably damaging	Het
Atad2b	G	A	12: 4,993,251 (GRCm39)	G257S	probably benign	Het
Cand2	A	T	6: 115,778,909 (GRCm39)	T1158S	probably benign	Het
Cic	G	A	7: 24,972,327 (GRCm39)	R686H	probably damaging	Het
Cldn1	T	A	16: 26,181,913 (GRCm39)	T99S	probably benign	Het
Cnga3	G	T	1: 37,297,087 (GRCm39)	E173*	probably null	Het
Cplane1	T	C	15: 8,292,422 (GRCm39)	S3012P	unknown	Het
Cryge	G	T	1: 65,090,211 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,376,445 (GRCm39)	L1410H	probably damaging	Het
Dync2h1	T	C	9: 7,134,364 (GRCm39)	T1548A	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Eml5	T	C	12: 98,756,878 (GRCm39)	D1917G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fn3krp	A	T	11: 121,315,879 (GRCm39)	H90L	possibly damaging	Het
Garin2	A	G	12: 78,761,927 (GRCm39)	D197G	probably damaging	Het
Gm10718	A	T	9: 3,023,716 (GRCm39)	T56S	probably benign	Het
Gm4847	A	T	1: 166,469,908 (GRCm39)	I55K	probably damaging	Het
Gsn	T	A	2: 35,173,912 (GRCm39)		probably null	Het
H2bc11	G	T	13: 22,227,421 (GRCm39)		probably benign	Het
Haghl	T	C	17: 26,001,980 (GRCm39)		probably benign	Het
Hmg20b	T	A	10: 81,182,761 (GRCm39)	E139V	probably damaging	Het
Hsd3b6	G	A	3: 98,715,221 (GRCm39)	T57I	probably benign	Het
Igkv5-48	A	G	6: 69,703,780 (GRCm39)	S42P	probably damaging	Het
Igsf23	T	C	7: 19,687,859 (GRCm39)		probably benign	Het
Kcnt1	T	C	2: 25,798,112 (GRCm39)	F874L	probably damaging	Het
Maf1	T	C	15: 76,237,162 (GRCm39)	F110L	possibly damaging	Het
Mtpap	C	T	18: 4,387,044 (GRCm39)	R365W	probably damaging	Het
Mtus1	A	C	8: 41,537,507 (GRCm39)	S70A	possibly damaging	Het
Nfatc1	T	A	18: 80,741,080 (GRCm39)	T307S	probably benign	Het
Nphs1	T	G	7: 30,162,657 (GRCm39)	S379A	possibly damaging	Het
Nup205	A	G	6: 35,207,465 (GRCm39)	T1506A	probably benign	Het
Or13f5	T	C	4: 52,825,450 (GRCm39)	S18P	possibly damaging	Het
Pcdhga8	A	T	18: 37,860,762 (GRCm39)	Y606F	probably damaging	Het
Pde7a	A	G	3: 19,297,281 (GRCm39)	V123A	probably benign	Het
Pex1	C	T	5: 3,674,426 (GRCm39)	T809I	probably benign	Het
Prdm13	C	A	4: 21,678,243 (GRCm39)	R749L	possibly damaging	Het
Prkcd	A	G	14: 30,321,700 (GRCm39)	L498P	probably damaging	Het
Pros1	A	T	16: 62,705,887 (GRCm39)	E67V	probably damaging	Het
Rab44	A	G	17: 29,359,063 (GRCm39)	E417G	possibly damaging	Het
Rangrf	A	G	11: 68,864,466 (GRCm39)		probably null	Het
Rp1	T	A	1: 4,418,898 (GRCm39)	K738M	probably damaging	Het
Ryr2	A	T	13: 11,683,706 (GRCm39)	D3119E	probably damaging	Het
Ryr2	G	A	13: 11,760,638 (GRCm39)	R1482C	probably damaging	Het
Sbspon	T	A	1: 15,929,192 (GRCm39)	T200S	probably damaging	Het
Sfxn5	T	C	6: 85,309,358 (GRCm39)		probably benign	Het
Slc26a8	T	A	17: 28,873,857 (GRCm39)	I377F	probably benign	Het
Slc30a7	A	G	3: 115,786,657 (GRCm39)	F72L	probably damaging	Het
Slc32a1	T	C	2: 158,456,112 (GRCm39)	F256L	possibly damaging	Het
Slco6b1	T	C	1: 96,839,558 (GRCm39)		noncoding transcript	Het
Smpd1	A	G	7: 105,205,192 (GRCm39)	H357R	probably benign	Het
Sncaip	A	T	18: 53,004,456 (GRCm39)	H361L	probably damaging	Het
Tenm2	A	C	11: 35,914,315 (GRCm39)	Y2406*	probably null	Het
Terb1	T	A	8: 105,212,057 (GRCm39)	H308L	probably benign	Het
Trim61	A	T	8: 65,466,070 (GRCm39)	L397H	probably damaging	Het
Trp53bp1	T	A	2: 121,035,594 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,611,899 (GRCm39)	E9007D	possibly damaging	Het
Urb1	A	T	16: 90,592,302 (GRCm39)	C319*	probably null	Het
Vmn2r95	T	C	17: 18,671,915 (GRCm39)	Y551H	probably damaging	Het
Vwde	A	T	6: 13,196,047 (GRCm39)	V326D	possibly damaging	Het
Xdh	A	G	17: 74,205,330 (GRCm39)	L1045P	probably damaging	Het
Zfp638	T	C	6: 83,956,457 (GRCm39)	I1688T	possibly damaging	Het
Zwint	T	A	10: 72,491,788 (GRCm39)		probably benign	Het

Other mutations in Or8u9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01614:Or8u9	APN	2	86,001,741 (GRCm39)	missense	possibly damaging	0.90
IGL02562:Or8u9	APN	2	86,001,384 (GRCm39)	missense	probably damaging	1.00
R0230:Or8u9	UTSW	2	86,001,886 (GRCm39)	missense	probably benign	0.22
R0306:Or8u9	UTSW	2	86,002,060 (GRCm39)	missense	possibly damaging	0.80
R0373:Or8u9	UTSW	2	86,002,050 (GRCm39)	missense	probably damaging	0.98
R0539:Or8u9	UTSW	2	86,001,387 (GRCm39)	missense	probably damaging	0.98
R1925:Or8u9	UTSW	2	86,001,354 (GRCm39)	missense	probably benign	0.22
R2367:Or8u9	UTSW	2	86,001,981 (GRCm39)	missense	probably damaging	1.00
R4114:Or8u9	UTSW	2	86,001,759 (GRCm39)	missense	possibly damaging	0.90
R4851:Or8u9	UTSW	2	86,002,015 (GRCm39)	missense	probably damaging	1.00
R7402:Or8u9	UTSW	2	86,001,546 (GRCm39)	missense	probably benign	0.34
R7439:Or8u9	UTSW	2	86,001,354 (GRCm39)	missense	probably damaging	1.00
R7441:Or8u9	UTSW	2	86,001,354 (GRCm39)	missense	probably damaging	1.00
R7624:Or8u9	UTSW	2	86,001,564 (GRCm39)	missense	possibly damaging	0.95
R8096:Or8u9	UTSW	2	86,002,056 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTCATAAAGGCTAGGAAACAGC -3'
(R):5'- ATTTGATGGACAAGCTTTGAGC -3'

Sequencing Primer
(F):5'- GCCTAACTGAGCAGCACATG -3'
(R):5'- CATGTTAACAGTGTAATGTGTTTCAC -3'

Posted On

2016-03-01