Mutagenetix > Incidental Mutation

Incidental Mutation 'R0725:Or8g55'

218379

Institutional Source

Beutler Lab

Gene Symbol

Or8g55

Ensembl Gene

ENSMUSG00000094449

Gene Name

olfactory receptor family 8 subfamily G member 55

Synonyms

GA_x6K02T2PVTD-33572803-33573747, MOR171-17, Olfr972

MMRRC Submission

038907-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0725 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

39784573-39785517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39784643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 24 (Q24L)

Ref Sequence

ENSEMBL: ENSMUSP00000150498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079767] [ENSMUST00000215303] [ENSMUST00000216167]

AlphaFold

Q9EQA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000079767
AA Change: Q24L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078700
Gene: ENSMUSG00000094449
AA Change: Q24L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.1e-54	PFAM
Pfam:7tm_1	41	290	2.1e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215303
AA Change: Q24L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216167
AA Change: Q24L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.7%

Validation Efficiency

100% (70/70)

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
Asph	C	T	4: 9,542,275 (GRCm39)	D305N	probably damaging	Het
Atp13a3	T	C	16: 30,170,205 (GRCm39)	K327R	probably damaging	Het
Cacna1s	T	C	1: 136,026,264 (GRCm39)		probably benign	Het
Ccnk	T	C	12: 108,161,834 (GRCm39)		probably benign	Het
Cep55	T	C	19: 38,048,622 (GRCm39)	S93P	possibly damaging	Het
Cfap300	A	T	9: 8,027,144 (GRCm39)	D131E	probably damaging	Het
Cfh	A	G	1: 140,085,081 (GRCm39)		probably benign	Het
Clptm1l	A	G	13: 73,754,462 (GRCm39)	T129A	probably benign	Het
Cntnap5a	A	G	1: 116,220,206 (GRCm39)	E672G	probably benign	Het
Cpped1	C	A	16: 11,646,314 (GRCm39)	W170L	probably damaging	Het
Crygb	T	C	1: 65,121,100 (GRCm39)	I76V	probably benign	Het
Cyp3a25	A	G	5: 145,931,746 (GRCm39)	S121P	probably damaging	Het
Cyp4b1	T	C	4: 115,484,024 (GRCm39)	D395G	probably damaging	Het
Dll4	T	C	2: 119,163,170 (GRCm39)	V597A	probably damaging	Het
Dock7	T	C	4: 98,833,528 (GRCm39)	D1891G	probably damaging	Het
Dsel	T	C	1: 111,787,682 (GRCm39)	D951G	possibly damaging	Het
Dync2h1	C	A	9: 7,015,497 (GRCm39)	V3603F	possibly damaging	Het
Fam167b	C	A	4: 129,472,078 (GRCm39)	A31S	probably damaging	Het
Fgfrl1	T	A	5: 108,852,539 (GRCm39)	I25N	probably damaging	Het
Gzf1	C	T	2: 148,526,569 (GRCm39)	R347*	probably null	Het
Heatr5b	T	A	17: 79,103,825 (GRCm39)	I1117F	probably benign	Het
Kntc1	T	C	5: 123,907,767 (GRCm39)	V456A	possibly damaging	Het
Macc1	C	A	12: 119,411,251 (GRCm39)	S673*	probably null	Het
Mpp4	T	C	1: 59,160,581 (GRCm39)	E574G	probably damaging	Het
Muc20	C	T	16: 32,613,858 (GRCm39)	M506I	probably benign	Het
Ncbp1	A	G	4: 46,152,056 (GRCm39)	T218A	probably benign	Het
Nfxl1	A	T	5: 72,716,473 (GRCm39)	V46E	probably benign	Het
Nfyc	G	T	4: 120,625,931 (GRCm39)		probably benign	Het
Niban1	A	G	1: 151,581,766 (GRCm39)	E454G	probably benign	Het
Or51f5	T	A	7: 102,423,739 (GRCm39)	S3T	probably benign	Het
Osbpl8	T	C	10: 111,122,101 (GRCm39)	F681S	possibly damaging	Het
Pcm1	G	C	8: 41,740,848 (GRCm39)	E1031D	probably damaging	Het
Pdcd11	A	G	19: 47,115,730 (GRCm39)	E1486G	probably benign	Het
Pex12	G	T	11: 83,188,860 (GRCm39)	A45E	probably damaging	Het
Pheta1	T	A	5: 121,991,314 (GRCm39)	H225Q	probably benign	Het
Pigm	A	G	1: 172,204,384 (GRCm39)	D40G	probably damaging	Het
Pkp1	G	T	1: 135,808,478 (GRCm39)	N496K	probably benign	Het
Psmc4	T	C	7: 27,748,287 (GRCm39)	I54V	probably benign	Het
Rbm33	T	C	5: 28,599,481 (GRCm39)	V951A	unknown	Het
Selenbp2	G	T	3: 94,604,809 (GRCm39)		probably benign	Het
Slc3a1	G	A	17: 85,368,263 (GRCm39)	W510*	probably null	Het
Stx12	A	C	4: 132,584,701 (GRCm39)		probably benign	Het
Tas2r125	G	T	6: 132,887,085 (GRCm39)	D158Y	probably benign	Het
Tchp	C	A	5: 114,857,682 (GRCm39)	Q392K	probably benign	Het
Tmed11	T	A	5: 108,926,855 (GRCm39)	D139V	probably damaging	Het
Ttn	C	T	2: 76,578,654 (GRCm39)	V24080M	probably damaging	Het
Ush2a	G	A	1: 188,683,722 (GRCm39)	G4967D	probably damaging	Het
Vezf1	T	C	11: 87,964,156 (GRCm39)	S103P	probably benign	Het
Xpnpep3	T	C	15: 81,315,043 (GRCm39)	S248P	probably damaging	Het
Yipf2	G	C	9: 21,503,519 (GRCm39)		probably null	Het
Zfp110	A	T	7: 12,570,290 (GRCm39)	Q39L	possibly damaging	Het
Zfp287	A	T	11: 62,605,039 (GRCm39)	C623S	probably damaging	Het

Other mutations in Or8g55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01805:Or8g55	APN	9	39,785,075 (GRCm39)	missense	probably damaging	1.00
IGL02008:Or8g55	APN	9	39,784,781 (GRCm39)	missense	probably damaging	1.00
IGL02556:Or8g55	APN	9	39,784,906 (GRCm39)	missense	possibly damaging	0.73
BB008:Or8g55	UTSW	9	39,785,146 (GRCm39)	missense	possibly damaging	0.86
BB018:Or8g55	UTSW	9	39,785,146 (GRCm39)	missense	possibly damaging	0.86
IGL02991:Or8g55	UTSW	9	39,785,362 (GRCm39)	missense	probably benign	0.36
R0494:Or8g55	UTSW	9	39,784,698 (GRCm39)	missense	probably damaging	1.00
R1179:Or8g55	UTSW	9	39,785,371 (GRCm39)	missense	possibly damaging	0.78
R1500:Or8g55	UTSW	9	39,784,707 (GRCm39)	missense	probably benign	0.36
R1796:Or8g55	UTSW	9	39,785,267 (GRCm39)	missense	probably benign	0.12
R1970:Or8g55	UTSW	9	39,785,234 (GRCm39)	missense	probably damaging	1.00
R2018:Or8g55	UTSW	9	39,785,354 (GRCm39)	missense	probably benign	0.35
R4065:Or8g55	UTSW	9	39,784,718 (GRCm39)	missense	possibly damaging	0.86
R5254:Or8g55	UTSW	9	39,784,741 (GRCm39)	missense	possibly damaging	0.94
R5799:Or8g55	UTSW	9	39,785,392 (GRCm39)	missense	possibly damaging	0.78
R6751:Or8g55	UTSW	9	39,784,976 (GRCm39)	missense	probably benign	0.00
R7525:Or8g55	UTSW	9	39,785,435 (GRCm39)	nonsense	probably null
R7570:Or8g55	UTSW	9	39,784,751 (GRCm39)	missense	possibly damaging	0.59
R7803:Or8g55	UTSW	9	39,785,378 (GRCm39)	missense	probably benign	0.23
R7931:Or8g55	UTSW	9	39,785,146 (GRCm39)	missense	possibly damaging	0.86
R8344:Or8g55	UTSW	9	39,785,231 (GRCm39)	missense	probably benign	0.42
R8859:Or8g55	UTSW	9	39,784,894 (GRCm39)	missense	probably benign	0.05
R9404:Or8g55	UTSW	9	39,784,708 (GRCm39)	missense	possibly damaging	0.56
Z1177:Or8g55	UTSW	9	39,784,819 (GRCm39)	missense	probably benign	0.33

Predicted Primers

Posted On

2014-08-01