Mutagenetix > Incidental Mutation

Incidental Mutation 'R1416:Or5p5'

159589

Institutional Source

Beutler Lab

Gene Symbol

Or5p5

Ensembl Gene

ENSMUSG00000066242

Gene Name

olfactory receptor family 5 subfamily P member 5

Synonyms

MOR204-33P, Olfr467, GA_x6K02T2PBJ9-10144091-10145011

MMRRC Submission

039472-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R1416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107413793-107414713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107414469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 228 (L228P)

Ref Sequence

ENSEMBL: ENSMUSP00000081811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084756] [ENSMUST00000208563] [ENSMUST00000214253]

AlphaFold

L7N455

Predicted Effect

probably damaging
Transcript: ENSMUST00000084756
AA Change: L228P

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

SMART Domains

Protein: ENSMUSP00000081811
Gene: ENSMUSG00000066242
AA Change: L228P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	308	5.3e-52	PFAM
Pfam:7TM_GPCR_Srsx	37	307	8.3e-7	PFAM
Pfam:7tm_1	43	292	2.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207203

Predicted Effect

probably damaging
Transcript: ENSMUST00000208563
AA Change: L226P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214253
AA Change: L226P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

94% (63/67)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	C	9: 103,950,822 (GRCm39)	S49P	probably damaging	Het
Afm	T	C	5: 90,674,238 (GRCm39)	I250T	possibly damaging	Het
Alox5	G	A	6: 116,400,106 (GRCm39)	Q278*	probably null	Het
Anxa7	G	A	14: 20,512,775 (GRCm39)	R253C	probably damaging	Het
Arfgef1	T	A	1: 10,243,164 (GRCm39)	T1059S	probably damaging	Het
Arpp21	T	C	9: 112,008,197 (GRCm39)	E101G	probably damaging	Het
Bcr	A	T	10: 74,897,338 (GRCm39)	I161F	possibly damaging	Het
Ccdc141	T	C	2: 76,845,140 (GRCm39)	E1309G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cep41	C	T	6: 30,657,356 (GRCm39)	S233N	probably damaging	Het
Col5a1	T	G	2: 27,812,076 (GRCm39)	S53A	unknown	Het
Cplane1	C	T	15: 8,276,422 (GRCm39)	Q2689*	probably null	Het
Efnb2	A	G	8: 8,672,329 (GRCm39)		probably null	Het
Epb41l5	T	C	1: 119,477,606 (GRCm39)		probably benign	Het
Eri2	A	G	7: 119,390,397 (GRCm39)	F77S	probably damaging	Het
Ern1	C	T	11: 106,312,806 (GRCm39)		probably benign	Het
Eya3	T	C	4: 132,434,440 (GRCm39)		probably benign	Het
Icos	T	C	1: 61,033,802 (GRCm39)	L144P	probably damaging	Het
Ipo8	A	G	6: 148,690,591 (GRCm39)	V717A	probably benign	Het
Lrp12	T	C	15: 39,742,019 (GRCm39)	E232G	probably damaging	Het
Lrp1b	A	G	2: 40,888,228 (GRCm39)	I2344T	probably damaging	Het
Mettl5	A	T	2: 69,701,633 (GRCm39)	F207I	possibly damaging	Het
Mtor	G	T	4: 148,575,871 (GRCm39)	E1342*	probably null	Het
Nrap	A	G	19: 56,315,725 (GRCm39)	Y1360H	possibly damaging	Het
Nsun7	T	C	5: 66,418,423 (GRCm39)	V51A	probably damaging	Het
Or5an11	C	A	19: 12,246,258 (GRCm39)	F221L	probably benign	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Or8k27	T	C	2: 86,275,664 (GRCm39)	I221V	probably benign	Het
Or9m1b	T	A	2: 87,836,915 (GRCm39)	Y60F	probably damaging	Het
Otud6b	A	C	4: 14,818,473 (GRCm39)	L143V	probably damaging	Het
Pabir2	T	C	X: 52,335,023 (GRCm39)	*256W	probably null	Het
Pp2d1	T	C	17: 53,822,835 (GRCm39)	N77S	probably benign	Het
Ppp4r3c2	A	T	X: 88,797,283 (GRCm39)	M372L	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Raly	G	T	2: 154,699,273 (GRCm39)	G26*	probably null	Het
Rarb	T	C	14: 16,435,177 (GRCm38)	M290V	possibly damaging	Het
Rusc2	A	G	4: 43,421,617 (GRCm39)	E679G	possibly damaging	Het
Scap	T	C	9: 110,213,841 (GRCm39)	V1268A	probably damaging	Het
Setd1b	C	T	5: 123,298,748 (GRCm39)		probably benign	Het
Shisa3	C	G	5: 67,768,777 (GRCm39)	P226A	probably benign	Het
Smox	C	T	2: 131,364,051 (GRCm39)	S481F	probably damaging	Het
Stard9	T	C	2: 120,531,453 (GRCm39)	V2570A	probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Sult4a1	C	T	15: 83,970,847 (GRCm39)	R186Q	probably benign	Het
Taf2	G	T	15: 54,901,806 (GRCm39)	A796E	possibly damaging	Het
Taf4b	T	C	18: 14,954,484 (GRCm39)		probably benign	Het
Thbs4	G	T	13: 92,898,041 (GRCm39)	Q593K	probably benign	Het
Tigd3	T	C	19: 5,941,753 (GRCm39)	D459G	probably benign	Het
Tmem168	A	T	6: 13,591,400 (GRCm39)	L472Q	probably damaging	Het
Tmem169	G	T	1: 72,339,875 (GRCm39)	V102F	probably damaging	Het
Tmem241	T	C	18: 12,126,631 (GRCm39)	T274A	probably benign	Het
Trip10	A	G	17: 57,557,800 (GRCm39)	Y28C	probably damaging	Het
Ubp1	T	C	9: 113,799,239 (GRCm39)	V398A	probably benign	Het
Ubr3	A	G	2: 69,775,415 (GRCm39)	Y567C	probably damaging	Het
Uckl1	A	T	2: 181,211,362 (GRCm39)	M489K	possibly damaging	Het
Ush2a	C	T	1: 188,169,080 (GRCm39)	P1074S	probably damaging	Het
Vmn1r62	T	C	7: 5,678,904 (GRCm39)	V195A	probably damaging	Het
Vmn2r63	T	A	7: 42,577,339 (GRCm39)	I400L	probably benign	Het
Vmn2r67	T	A	7: 84,800,824 (GRCm39)	I371F	probably benign	Het
Wdr64	A	G	1: 175,633,568 (GRCm39)	T940A	probably benign	Het
Zfp105	A	T	9: 122,759,742 (GRCm39)	Y471F	probably damaging	Het
Zfp287	A	T	11: 62,605,166 (GRCm39)	H580Q	probably damaging	Het

Other mutations in Or5p5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0110:Or5p5	UTSW	7	107,413,895 (GRCm39)	missense	probably damaging	1.00
R0450:Or5p5	UTSW	7	107,413,895 (GRCm39)	missense	probably damaging	1.00
R0707:Or5p5	UTSW	7	107,414,331 (GRCm39)	missense	probably damaging	0.99
R0918:Or5p5	UTSW	7	107,414,418 (GRCm39)	missense	probably benign	0.03
R1988:Or5p5	UTSW	7	107,413,907 (GRCm39)	missense	probably benign
R1989:Or5p5	UTSW	7	107,413,907 (GRCm39)	missense	probably benign
R2219:Or5p5	UTSW	7	107,414,429 (GRCm39)	missense	probably benign
R2241:Or5p5	UTSW	7	107,414,040 (GRCm39)	missense	possibly damaging	0.62
R2866:Or5p5	UTSW	7	107,414,126 (GRCm39)	missense	probably benign	0.06
R4946:Or5p5	UTSW	7	107,414,589 (GRCm39)	missense	possibly damaging	0.90
R4972:Or5p5	UTSW	7	107,413,953 (GRCm39)	missense	probably benign	0.10
R5099:Or5p5	UTSW	7	107,413,809 (GRCm39)	missense	probably benign	0.00
R5310:Or5p5	UTSW	7	107,414,171 (GRCm39)	missense	probably damaging	1.00
R5323:Or5p5	UTSW	7	107,413,883 (GRCm39)	missense	possibly damaging	0.96
R5531:Or5p5	UTSW	7	107,414,451 (GRCm39)	missense	probably benign	0.03
R5672:Or5p5	UTSW	7	107,413,844 (GRCm39)	missense	probably damaging	1.00
R5758:Or5p5	UTSW	7	107,414,022 (GRCm39)	missense	probably damaging	0.99
R5891:Or5p5	UTSW	7	107,414,387 (GRCm39)	missense	probably damaging	1.00
R6016:Or5p5	UTSW	7	107,414,219 (GRCm39)	missense	probably benign	0.01
R6399:Or5p5	UTSW	7	107,413,961 (GRCm39)	missense	possibly damaging	0.78
R6466:Or5p5	UTSW	7	107,413,901 (GRCm39)	missense	probably benign
R6894:Or5p5	UTSW	7	107,414,271 (GRCm39)	missense	probably benign	0.25
R7543:Or5p5	UTSW	7	107,414,308 (GRCm39)	missense	probably damaging	1.00
R8316:Or5p5	UTSW	7	107,414,030 (GRCm39)	missense	possibly damaging	0.81
R9285:Or5p5	UTSW	7	107,413,821 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCATAGTCCAGCTTGGCTCTGATG -3'
(R):5'- CAAGGGATTCAGCATGGGGATCAC -3'

Sequencing Primer
(F):5'- AAGGTCTGCCTCATCTTATTGG -3'
(R):5'- GGGATCACCACTGTGTAGAAC -3'

Posted On

2014-03-14