Mutagenetix > Incidental Mutation

Incidental Mutation 'R6168:Or8u8'

490233

Institutional Source

Beutler Lab

Gene Symbol

Or8u8

Ensembl Gene

ENSMUSG00000075199

Gene Name

olfactory receptor family 8 subfamily U member 8

Synonyms

IE6, Olfr52, MOR185-6, GA_x6K02T2Q125-47650922-47649963

MMRRC Submission

044430-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.372) question?

Stock #

R6168 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86011494-86012453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86012309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 49 (I49V)

Ref Sequence

ENSEMBL: ENSMUSP00000097489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099905] [ENSMUST00000215138] [ENSMUST00000215171]

AlphaFold

Q8VFL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000099905
AA Change: I49V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097489
Gene: ENSMUSG00000075199
AA Change: I49V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5e-56	PFAM
Pfam:7tm_1	41	290	3.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215138
AA Change: I49V

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000215171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215739

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,571,827 (GRCm39)	L568F	possibly damaging	Het
Adam3	A	T	8: 25,171,630 (GRCm39)		probably null	Het
Adamts13	G	T	2: 26,894,898 (GRCm39)	A1069S	probably benign	Het
Adarb1	A	G	10: 77,158,153 (GRCm39)	L98P	probably damaging	Het
Ahnak2	T	C	12: 112,747,750 (GRCm39)	E1035G	probably benign	Het
Alox12b	T	A	11: 69,060,460 (GRCm39)	I672N	probably damaging	Het
Ark2n	A	G	18: 77,761,653 (GRCm39)	S220P	probably damaging	Het
Ash1l	C	T	3: 88,960,080 (GRCm39)	R2271*	probably null	Het
Atf7ip	A	G	6: 136,536,817 (GRCm39)	T17A	probably damaging	Het
Col6a5	A	G	9: 105,752,986 (GRCm39)		probably null	Het
Crcp	A	G	5: 130,066,737 (GRCm39)	N41S	probably damaging	Het
Defb15	A	C	8: 22,420,069 (GRCm39)	N19K	possibly damaging	Het
Dnah7a	T	A	1: 53,450,727 (GRCm39)	D3901V	probably damaging	Het
Dnah7b	A	C	1: 46,329,863 (GRCm39)	T3236P	probably damaging	Het
Dnmbp	A	G	19: 43,838,679 (GRCm39)	S608P	probably damaging	Het
Efcab12	T	C	6: 115,791,577 (GRCm39)	K532E	probably damaging	Het
Fbrsl1	C	T	5: 110,543,922 (GRCm39)	V54M	probably damaging	Het
Gm14496	T	A	2: 181,642,750 (GRCm39)	V807E	probably damaging	Het
Hoxa2	A	G	6: 52,140,461 (GRCm39)	L175P	probably damaging	Het
Igkv4-58	A	C	6: 69,477,281 (GRCm39)	D105E	probably damaging	Het
Igkv8-27	A	T	6: 70,148,880 (GRCm39)	S91R	probably benign	Het
Itgax	T	C	7: 127,732,269 (GRCm39)	V175A	probably damaging	Het
Kcnc2	A	G	10: 112,291,661 (GRCm39)	D283G	probably benign	Het
Lepr	G	A	4: 101,592,789 (GRCm39)	G135R	probably damaging	Het
Mcf2l	A	G	8: 13,051,823 (GRCm39)	S378G	probably benign	Het
Mta1	T	A	12: 113,086,739 (GRCm39)	D145E	probably damaging	Het
Nkd1	T	A	8: 89,311,859 (GRCm39)	N44K	probably damaging	Het
Notch2	A	G	3: 98,052,533 (GRCm39)	K2010E	probably damaging	Het
Nsd3	G	A	8: 26,181,188 (GRCm39)	G930S	probably null	Het
Or2w1	T	G	13: 21,317,399 (GRCm39)	I151M	possibly damaging	Het
Or6c203	A	G	10: 129,010,035 (GRCm39)	F285S	probably damaging	Het
Or8g35	A	G	9: 39,381,953 (GRCm39)	L23P	probably damaging	Het
Or8k3	T	G	2: 86,058,938 (GRCm39)	I126L	probably damaging	Het
Pde4c	G	A	8: 71,202,688 (GRCm39)	E625K	probably benign	Het
Pdgfb	T	C	15: 79,884,587 (GRCm39)	T151A	probably benign	Het
Pik3r5	T	C	11: 68,383,501 (GRCm39)	V440A	probably benign	Het
Piwil2	T	C	14: 70,632,800 (GRCm39)	T591A	probably benign	Het
Ppm1l	A	G	3: 69,456,740 (GRCm39)	D219G	probably damaging	Het
Psmc6	T	C	14: 45,581,140 (GRCm39)	I312T	probably damaging	Het
Rasl10a	T	C	11: 5,008,442 (GRCm39)	V46A	possibly damaging	Het
Rhov	T	C	2: 119,101,453 (GRCm39)	Y51C	probably damaging	Het
S100a16	C	T	3: 90,449,879 (GRCm39)	Q121*	probably null	Het
Slc5a12	T	C	2: 110,447,089 (GRCm39)	V199A	probably damaging	Het
Slc6a7	A	T	18: 61,134,734 (GRCm39)	M447K	probably benign	Het
Tarbp1	A	G	8: 127,175,144 (GRCm39)	V764A	possibly damaging	Het
Vmn1r197	T	C	13: 22,512,678 (GRCm39)	Y200H	possibly damaging	Het
Vmn2r102	G	A	17: 19,914,402 (GRCm39)	A656T	possibly damaging	Het
Vmn2r49	G	T	7: 9,718,713 (GRCm39)	D450E	probably benign	Het
Wdr7	T	A	18: 63,911,048 (GRCm39)	N813K	probably damaging	Het
Yeats2	T	C	16: 19,998,308 (GRCm39)	S288P	probably benign	Het
Zfta	T	C	19: 7,400,305 (GRCm39)	V257A	probably benign	Het
Zswim6	G	A	13: 107,924,299 (GRCm39)		noncoding transcript	Het

Other mutations in Or8u8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02238:Or8u8	APN	2	86,011,939 (GRCm39)	splice site	probably null
R0422:Or8u8	UTSW	2	86,011,566 (GRCm39)	missense	probably benign	0.00
R0688:Or8u8	UTSW	2	86,011,949 (GRCm39)	splice site	probably null
R0976:Or8u8	UTSW	2	86,012,152 (GRCm39)	missense	probably damaging	0.99
R1240:Or8u8	UTSW	2	86,012,453 (GRCm39)	start codon destroyed	possibly damaging	0.94
R1316:Or8u8	UTSW	2	86,011,709 (GRCm39)	missense	probably benign	0.01
R1865:Or8u8	UTSW	2	86,011,882 (GRCm39)	missense	probably damaging	1.00
R2188:Or8u8	UTSW	2	86,011,780 (GRCm39)	missense	probably damaging	1.00
R4072:Or8u8	UTSW	2	86,011,991 (GRCm39)	missense	probably benign	0.02
R4222:Or8u8	UTSW	2	86,012,341 (GRCm39)	missense	probably damaging	0.99
R5096:Or8u8	UTSW	2	86,012,276 (GRCm39)	missense	probably damaging	1.00
R5103:Or8u8	UTSW	2	86,011,960 (GRCm39)	missense	probably benign	0.41
R5934:Or8u8	UTSW	2	86,012,446 (GRCm39)	missense	probably benign	0.00
R6601:Or8u8	UTSW	2	86,012,309 (GRCm39)	missense	probably damaging	1.00
R7448:Or8u8	UTSW	2	86,011,678 (GRCm39)	missense	probably damaging	1.00
R7497:Or8u8	UTSW	2	86,012,417 (GRCm39)	missense	probably benign	0.00
R9362:Or8u8	UTSW	2	86,011,732 (GRCm39)	missense	probably damaging	1.00
R9587:Or8u8	UTSW	2	86,011,564 (GRCm39)	missense	probably damaging	1.00
R9728:Or8u8	UTSW	2	86,011,636 (GRCm39)	missense	possibly damaging	0.71
R9774:Or8u8	UTSW	2	86,012,015 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GAGGGTTACAAATTGCTGCATATC -3'
(R):5'- CTCCTCCTACAGATGTCCTGAAG -3'

Sequencing Primer
(F):5'- TCTATCATATGCCATGGAAGCCAGG -3'
(R):5'- ATGTCCTGAAGACTCATGGC -3'

Posted On

2017-10-10