Mutagenetix > Incidental Mutation

Incidental Mutation 'R6046:Or5p54'

483292

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

044214-MU

Accession Numbers

Essential gene?

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

Stock #

R6046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107553850-107554782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107554001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 51 (I51N)

Ref Sequence

ENSEMBL: ENSMUSP00000055931 (fasta)

Gene Model

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

AlphaFold

Q8VFC9

Predicted Effect

probably benign
Transcript: ENSMUST00000054434
AA Change: I51N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055931
Gene: ENSMUSG00000094197
AA Change: I51N

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (78/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	T	C	10: 85,223,947 (GRCm39)	V252A	unknown	Het
Actn4	T	C	7: 28,604,044 (GRCm39)	I406V	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ank1	T	A	8: 23,606,114 (GRCm39)	F1124I	probably damaging	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 64,922,910 (GRCm39)		probably null	Het
Atp9a	C	A	2: 168,476,790 (GRCm39)	V1000L	probably benign	Het
Bnip3	A	G	7: 138,511,033 (GRCm39)		probably benign	Het
Btnl6	T	A	17: 34,727,371 (GRCm39)	R386S	probably damaging	Het
Calcrl	A	G	2: 84,205,658 (GRCm39)	V11A	probably benign	Het
Cc2d1a	G	T	8: 84,863,571 (GRCm39)	A597D	possibly damaging	Het
Celsr3	A	G	9: 108,714,350 (GRCm39)	T1960A	probably benign	Het
Cfb	T	A	17: 35,081,078 (GRCm39)		probably null	Het
Chd8	A	G	14: 52,458,528 (GRCm39)	I860T	possibly damaging	Het
Col28a1	A	G	6: 8,168,102 (GRCm39)		probably null	Het
Crhr2	T	A	6: 55,068,277 (GRCm39)	T428S	probably damaging	Het
Crybg2	A	T	4: 133,819,388 (GRCm39)	I1753F	probably damaging	Het
Ctsq	A	T	13: 61,186,955 (GRCm39)	V46E	probably benign	Het
Cxcr1	T	C	1: 74,231,440 (GRCm39)	E194G	probably damaging	Het
Dop1a	A	T	9: 86,397,396 (GRCm39)	H900L	probably damaging	Het
Dpyd	T	A	3: 119,225,224 (GRCm39)	M999K	probably benign	Het
Gbp3	A	C	3: 142,273,560 (GRCm39)	D369A	possibly damaging	Het
Glmp	A	G	3: 88,232,495 (GRCm39)	E36G	probably damaging	Het
Gm10113	T	C	13: 46,330,919 (GRCm39)		noncoding transcript	Het
Gm6486	T	A	5: 3,120,846 (GRCm39)		noncoding transcript	Het
Gm973	T	G	1: 59,671,509 (GRCm39)	L891R	unknown	Het
Heatr3	C	T	8: 88,866,582 (GRCm39)	T8M	probably damaging	Het
Herc1	A	G	9: 66,352,831 (GRCm39)	M2106V	probably damaging	Het
Hfm1	A	T	5: 107,046,509 (GRCm39)		probably null	Het
Hspa14	A	G	2: 3,490,801 (GRCm39)	V462A	possibly damaging	Het
Hspa5	C	A	2: 34,665,761 (GRCm39)	T535K	possibly damaging	Het
Ift140	A	G	17: 25,274,563 (GRCm39)	D745G	probably benign	Het
Ift27	A	T	15: 78,057,981 (GRCm39)	C8S	possibly damaging	Het
Irak1bp1	G	A	9: 82,728,616 (GRCm39)	W182*	probably null	Het
Itga3	A	G	11: 94,953,541 (GRCm39)	I236T	probably benign	Het
Kctd15	T	A	7: 34,349,547 (GRCm39)	N26Y	possibly damaging	Het
Kdm1b	T	C	13: 47,232,729 (GRCm39)	V733A	possibly damaging	Het
Lhx8	A	T	3: 154,027,340 (GRCm39)	L234H	probably damaging	Het
Lrp2	T	A	2: 69,337,098 (GRCm39)	T1225S	probably damaging	Het
Lrrn1	G	A	6: 107,545,488 (GRCm39)	D429N	probably benign	Het
Mettl3	A	T	14: 52,536,243 (GRCm39)	N200K	possibly damaging	Het
Mixl1	G	T	1: 180,524,336 (GRCm39)	A81D	possibly damaging	Het
Mroh2b	T	C	15: 4,980,763 (GRCm39)	I1444T	probably benign	Het
Muc15	T	A	2: 110,561,786 (GRCm39)	L74*	probably null	Het
Olfm2	T	A	9: 20,579,824 (GRCm39)	Y317F	probably damaging	Het
Or52a33	C	T	7: 103,288,886 (GRCm39)	V154M	probably benign	Het
Or5b114-ps1	G	A	19: 13,352,698 (GRCm39)	S124N	probably benign	Het
Pclo	A	T	5: 14,763,302 (GRCm39)	Y3925F	unknown	Het
Pik3c2g	A	T	6: 139,599,137 (GRCm39)	R84S	probably damaging	Het
Pik3c2g	A	G	6: 139,842,518 (GRCm39)	Q449R	probably damaging	Het
Psg28	T	C	7: 18,160,305 (GRCm39)	E297G	probably damaging	Het
Qrich2	A	T	11: 116,337,832 (GRCm39)		probably benign	Het
Rgs9	A	G	11: 109,130,386 (GRCm39)	I363T	probably damaging	Het
Rnpepl1	A	G	1: 92,844,543 (GRCm39)	D345G	probably damaging	Het
Rtn4	T	A	11: 29,658,023 (GRCm39)	F726I	probably damaging	Het
Sart3	A	T	5: 113,893,507 (GRCm39)	I330N	probably damaging	Het
Scn5a	T	C	9: 119,391,440 (GRCm39)	D84G	probably damaging	Het
Sema4a	T	C	3: 88,348,008 (GRCm39)	T438A	probably damaging	Het
Sfxn1	A	C	13: 54,242,961 (GRCm39)	Y73S	probably benign	Het
Slc24a2	A	G	4: 86,914,882 (GRCm39)	M585T	probably damaging	Het
Slc26a7	A	G	4: 14,505,471 (GRCm39)	V656A	probably benign	Het
Smok2a	T	G	17: 13,445,021 (GRCm39)	D199E	probably benign	Het
Tbc1d10c	T	C	19: 4,235,030 (GRCm39)	I344V	probably benign	Het
Tll1	A	T	8: 64,506,925 (GRCm39)	Y605*	probably null	Het
Trim75	G	A	8: 65,435,535 (GRCm39)	P305L	probably damaging	Het
Unc13c	T	C	9: 73,838,166 (GRCm39)	N895S	probably benign	Het
Vmn2r25	A	T	6: 123,799,876 (GRCm39)	I822N	probably damaging	Het
Wasf3	T	G	5: 146,407,166 (GRCm39)	D495E	unknown	Het
Wdhd1	T	A	14: 47,510,667 (GRCm39)	K119*	probably null	Het
Wnt2b	T	A	3: 104,858,339 (GRCm39)	D310V	probably damaging	Het
Zfat	G	T	15: 68,052,626 (GRCm39)	D389E	probably damaging	Het
Zfp282	G	A	6: 47,857,102 (GRCm39)	V112M	probably damaging	Het
Zfp617	A	T	8: 72,687,257 (GRCm39)	K529I	probably damaging	Het
Zfp866	A	T	8: 70,218,373 (GRCm39)	C416S	probably damaging	Het
Zfp991	G	A	4: 147,264,222 (GRCm39)	G533D	probably benign	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
R5454:Or5p54	UTSW	7	107,554,096 (GRCm39)	missense	probably benign	0.09
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
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'- TTTCCATGATGGGCAGAGGC -3'
(R):5'- GTAGGAAGCACTCAGATGACCC -3'

Sequencing Primer
(F):5'- CCATGATGGGCAGAGGCAATAAC -3'
(R):5'- CTCAGATGACCCAAATAATACTGTG -3'

Posted On

2017-07-14