Mutagenetix > Incidental Mutation

Incidental Mutation 'R5454:Or5p54'

432668

Institutional Source

Beutler Lab

Gene Symbol

Or5p54

Ensembl Gene

ENSMUSG00000094197

Gene Name

olfactory receptor family 5 subfamily P member 54

Synonyms

GA_x6K02T2PBJ9-10283869-10284801, MOR204-20, Olfr474

MMRRC Submission

043018-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5454 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107553850-107554782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107554096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 83 (M83L)

Ref Sequence

ENSEMBL: ENSMUSP00000055931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054434]

AlphaFold

Q8VFC9

Predicted Effect

probably benign
Transcript: ENSMUST00000054434
AA Change: M83L

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055931
Gene: ENSMUSG00000094197
AA Change: M83L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.1e-39	PFAM
Pfam:7tm_1	41	290	9.4e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207265

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (60/60)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,051,041 (GRCm39)		noncoding transcript	Het
Ankfy1	A	T	11: 72,637,757 (GRCm39)	H483L	probably benign	Het
Ankrd46	C	T	15: 36,479,447 (GRCm39)	G215R	probably damaging	Het
Apobec1	T	C	6: 122,558,327 (GRCm39)	I143V	probably benign	Het
Atp2b4	C	A	1: 133,657,610 (GRCm39)	V627F	probably damaging	Het
Ccdc80	T	A	16: 44,947,588 (GRCm39)	Y855*	probably null	Het
Cd209b	T	C	8: 3,975,396 (GRCm39)	E88G	probably damaging	Het
Ceacam14	T	G	7: 17,548,110 (GRCm39)	W67G	probably damaging	Het
Cope	T	C	8: 70,757,306 (GRCm39)	V50A	probably benign	Het
Dcaf13	C	A	15: 38,987,759 (GRCm39)	D168E	probably benign	Het
Dhcr7	T	G	7: 143,391,576 (GRCm39)	M55R	probably damaging	Het
Enpp7	A	T	11: 118,879,634 (GRCm39)	Y96F	probably benign	Het
Esco1	T	C	18: 10,584,327 (GRCm39)	D60G	probably benign	Het
Fgfr3	G	A	5: 33,880,642 (GRCm39)		probably benign	Het
Frzb	T	C	2: 80,248,259 (GRCm39)	D280G	probably damaging	Het
Gcat	A	G	15: 78,920,610 (GRCm39)	I317V	probably benign	Het
Gm13030	A	T	4: 138,600,820 (GRCm39)		probably benign	Het
Gmds	A	G	13: 32,312,024 (GRCm39)	L135P	probably damaging	Het
Htra2	G	A	6: 83,030,995 (GRCm39)	P138L	probably damaging	Het
Il5	A	G	11: 53,614,626 (GRCm39)	N89S	probably damaging	Het
Ints3	G	A	3: 90,315,834 (GRCm39)	T310M	possibly damaging	Het
Itih2	T	C	2: 10,102,804 (GRCm39)	I777V	probably null	Het
Kctd9	T	C	14: 67,977,836 (GRCm39)	L382S	probably damaging	Het
Loricrin	A	G	3: 91,988,789 (GRCm39)	S166P	unknown	Het
Mga	T	A	2: 119,733,810 (GRCm39)	N219K	probably damaging	Het
Mtmr4	A	T	11: 87,501,868 (GRCm39)	R641*	probably null	Het
Muc6	C	T	7: 141,235,078 (GRCm39)	A611T	possibly damaging	Het
Obox3-ps8	A	T	17: 36,763,903 (GRCm39)		noncoding transcript	Het
Otud4	C	T	8: 80,377,671 (GRCm39)	L111F	possibly damaging	Het
Pcdhga12	T	A	18: 37,899,314 (GRCm39)	S49T	possibly damaging	Het
Pcdhgc3	A	G	18: 37,941,549 (GRCm39)	D650G	probably damaging	Het
Pcmt1	A	G	10: 7,516,509 (GRCm39)	V167A	probably damaging	Het
Pcnt	A	T	10: 76,225,381 (GRCm39)		probably null	Het
Pcx	G	T	19: 4,652,504 (GRCm39)	V164F	probably damaging	Het
Plekhg4	T	C	8: 106,102,745 (GRCm39)		probably null	Het
Pmch	A	G	10: 87,927,707 (GRCm39)	E136G	probably damaging	Het
Prkar1a	A	G	11: 109,550,886 (GRCm39)	D80G	probably benign	Het
Ryr3	T	C	2: 112,560,647 (GRCm39)		probably null	Het
Slc10a7	T	C	8: 79,413,253 (GRCm39)	S171P	possibly damaging	Het
Sox6	A	T	7: 115,301,008 (GRCm39)	M153K	possibly damaging	Het
Srgap2	T	C	1: 131,217,475 (GRCm39)	I946V	probably benign	Het
Strbp	T	C	2: 37,535,495 (GRCm39)	E71G	probably benign	Het
Synpo2l	C	A	14: 20,712,360 (GRCm39)	A87S	probably damaging	Het
Tnrc18	T	C	5: 142,757,446 (GRCm39)	D1025G	unknown	Het
Tnxb	A	G	17: 34,928,599 (GRCm39)	H2671R	possibly damaging	Het
Tor1b	GGACG	GG	2: 30,846,957 (GRCm39)		probably benign	Het
Umodl1	A	T	17: 31,205,439 (GRCm39)	D649V	possibly damaging	Het
Usp13	G	T	3: 32,959,585 (GRCm39)	A559S	probably damaging	Het
Vps45	G	A	3: 95,926,969 (GRCm39)	P526L	probably benign	Het
Zfp687	A	G	3: 94,916,457 (GRCm39)	V855A	probably damaging	Het
Zfp771	T	A	7: 126,853,448 (GRCm39)	C205S	probably damaging	Het

Other mutations in Or5p54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Or5p54	APN	7	107,554,580 (GRCm39)	missense	possibly damaging	0.48
IGL01794:Or5p54	APN	7	107,554,502 (GRCm39)	missense	probably damaging	1.00
IGL02007:Or5p54	APN	7	107,553,953 (GRCm39)	missense	probably damaging	1.00
IGL02213:Or5p54	APN	7	107,554,511 (GRCm39)	missense	probably damaging	1.00
IGL02529:Or5p54	APN	7	107,554,423 (GRCm39)	missense	possibly damaging	0.86
IGL02814:Or5p54	APN	7	107,553,977 (GRCm39)	missense	probably benign	0.00
IGL03242:Or5p54	APN	7	107,554,688 (GRCm39)	missense	possibly damaging	0.90
R0331:Or5p54	UTSW	7	107,554,077 (GRCm39)	missense	probably benign
R0409:Or5p54	UTSW	7	107,554,433 (GRCm39)	missense	probably benign	0.01
R0433:Or5p54	UTSW	7	107,554,469 (GRCm39)	missense	probably damaging	0.98
R1227:Or5p54	UTSW	7	107,554,259 (GRCm39)	missense	probably damaging	1.00
R2108:Or5p54	UTSW	7	107,554,709 (GRCm39)	missense	probably benign	0.00
R2256:Or5p54	UTSW	7	107,554,244 (GRCm39)	missense	probably damaging	1.00
R5229:Or5p54	UTSW	7	107,554,376 (GRCm39)	missense	probably damaging	1.00
R5834:Or5p54	UTSW	7	107,554,113 (GRCm39)	missense	probably benign	0.01
R6002:Or5p54	UTSW	7	107,554,376 (GRCm39)	missense	probably damaging	1.00
R6046:Or5p54	UTSW	7	107,554,001 (GRCm39)	missense	probably benign
R8214:Or5p54	UTSW	7	107,554,174 (GRCm39)	missense	probably benign	0.00
R9210:Or5p54	UTSW	7	107,554,017 (GRCm39)	missense	probably benign	0.08
R9212:Or5p54	UTSW	7	107,554,017 (GRCm39)	missense	probably benign	0.08
R9385:Or5p54	UTSW	7	107,554,780 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTTGGGACCAACAGAGGAC -3'
(R):5'- TTCATGCAGCCACCAACATAGG -3'

Sequencing Primer
(F):5'- GAGGACCCTACATTCTGTATAGC -3'
(R):5'- TAGAAAACAGACTCTAGAGGACATG -3'

Posted On

2016-10-06