Mutagenetix > Incidental Mutation

Incidental Mutation 'R8005:Or5p6'

616568

Institutional Source

Beutler Lab

Gene Symbol

Or5p6

Ensembl Gene

ENSMUSG00000094426

Gene Name

olfactory receptor family 5 subfamily P member 6

Synonyms

GA_x6K02T2PBJ9-10361879-10360935, Olfr478, MOR204-13

MMRRC Submission

046045-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R8005 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107630502-107633174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107631470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 27 (R27G)

Ref Sequence

ENSEMBL: ENSMUSP00000147713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049719] [ENSMUST00000210173]

AlphaFold

Q8VG04

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049719
AA Change: R27G

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058931
Gene: ENSMUSG00000094426
AA Change: R27G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.1e-54	PFAM
Pfam:7tm_1	44	293	1e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210173
AA Change: R27G

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	A	G	12: 84,063,774 (GRCm39)	D294G	probably benign	Het
Ak8	A	T	2: 28,602,314 (GRCm39)	S83C	probably benign	Het
Ankrd34b	C	A	13: 92,575,230 (GRCm39)	A154E	possibly damaging	Het
Anks1	A	G	17: 28,278,341 (GRCm39)	D1175G	probably damaging	Het
Ano4	T	A	10: 88,807,183 (GRCm39)	L799F	probably benign	Het
Aplp1	T	C	7: 30,135,470 (GRCm39)		probably null	Het
Apob	A	T	12: 8,059,744 (GRCm39)	H2742L	probably benign	Het
Apol7e	C	T	15: 77,602,277 (GRCm39)	Q292*	probably null	Het
Atp2b1	G	A	10: 98,830,661 (GRCm39)	G374D	probably damaging	Het
B4galt5	A	G	2: 167,143,384 (GRCm39)	S347P	probably damaging	Het
Bcl11b	T	C	12: 107,882,456 (GRCm39)	T620A	probably benign	Het
Bco2	T	A	9: 50,450,213 (GRCm39)	D329V	probably damaging	Het
Cd200l2	T	C	16: 45,352,400 (GRCm39)		probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Copg2	T	A	6: 30,873,632 (GRCm39)	M1L	possibly damaging	Het
D430041D05Rik	G	A	2: 104,088,599 (GRCm39)	H164Y	possibly damaging	Het
Dscaml1	G	T	9: 45,628,808 (GRCm39)	G1121C	probably damaging	Het
Gas2l1	A	T	11: 5,011,552 (GRCm39)	S426T	probably benign	Het
Gm9195	T	A	14: 72,663,840 (GRCm39)	I2740F	probably benign	Het
Irgm1	A	G	11: 48,757,217 (GRCm39)	I214T	probably damaging	Het
Kbtbd3	C	T	9: 4,330,655 (GRCm39)	T343I	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Ly75	A	T	2: 60,163,278 (GRCm39)	Y804N	probably damaging	Het
Mgat2	A	G	12: 69,232,722 (GRCm39)	H432R	probably damaging	Het
Nsrp1	A	T	11: 76,936,612 (GRCm39)	M528K	probably damaging	Het
Nup54	T	C	5: 92,576,006 (GRCm39)	I162V	probably benign	Het
Obsl1	T	A	1: 75,482,096 (GRCm39)	N258I	probably damaging	Het
Or1j4	A	G	2: 36,740,156 (GRCm39)	T33A	probably benign	Het
Or2y1b	G	T	11: 49,208,968 (GRCm39)	M198I	probably benign	Het
Or5p73	T	C	7: 108,064,693 (GRCm39)	V54A	probably benign	Het
Pax2	G	A	19: 44,749,328 (GRCm39)	V20M	probably damaging	Het
Pigb	A	T	9: 72,922,546 (GRCm39)	M13K	unknown	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pik3c2a	T	C	7: 116,017,271 (GRCm39)	Y162C	probably damaging	Het
Pik3c2g	A	T	6: 139,599,067 (GRCm39)	D61V	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Pramel17	A	G	4: 101,694,448 (GRCm39)	V145A	probably damaging	Het
Prss46	A	G	9: 110,685,144 (GRCm39)	D256G	probably benign	Het
Rims1	G	T	1: 22,482,437 (GRCm39)	D196E		Het
Sbf1	A	G	15: 89,178,408 (GRCm39)	L1498P	probably damaging	Het
Sh2b1	T	C	7: 126,068,479 (GRCm39)	D444G	possibly damaging	Het
Slc7a15	T	G	12: 8,589,395 (GRCm39)	M51L	probably damaging	Het
Slitrk1	T	C	14: 109,150,697 (GRCm39)	I5V	probably benign	Het
Spart	T	A	3: 55,024,773 (GRCm39)	C123S	probably benign	Het
Sry	C	T	Y: 2,663,303 (GRCm39)	R119K	possibly damaging	Het
Tasor2	C	T	13: 3,625,681 (GRCm39)	S1423N	probably benign	Het
Tbcc	T	C	17: 47,201,686 (GRCm39)	V24A	possibly damaging	Het
Tfap2a	T	A	13: 40,872,684 (GRCm39)	M331L	possibly damaging	Het
Thnsl1	A	G	2: 21,216,755 (GRCm39)	I170V	probably benign	Het
Ticrr	T	G	7: 79,343,796 (GRCm39)	S1220R	probably damaging	Het
Tmem262	T	C	19: 6,130,507 (GRCm39)	M77T	possibly damaging	Het
Tmem67	A	G	4: 12,047,821 (GRCm39)	S771P	probably damaging	Het
Tsc2	G	A	17: 24,818,570 (GRCm39)	A1423V	probably damaging	Het
Ubr4	T	A	4: 139,139,941 (GRCm39)	Y1175N	probably damaging	Het
Usp25	G	A	16: 76,873,956 (GRCm39)	A511T	probably benign	Het
Vmn2r115	T	A	17: 23,563,124 (GRCm39)	Y58*	probably null	Het
Wt1	T	C	2: 104,957,789 (GRCm39)		probably null	Het
Zfp735	A	T	11: 73,603,140 (GRCm39)	K695*	probably null	Het
Zkscan14	A	G	5: 145,132,568 (GRCm39)	F321S	possibly damaging	Het
Zswim9	T	C	7: 12,995,064 (GRCm39)	E364G	probably damaging	Het

Other mutations in Or5p6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Or5p6	APN	7	107,630,887 (GRCm39)	missense	probably damaging	1.00
IGL01457:Or5p6	APN	7	107,631,328 (GRCm39)	missense	possibly damaging	0.90
IGL03156:Or5p6	APN	7	107,631,558 (GRCm39)	utr 5 prime	probably benign
IGL03271:Or5p6	APN	7	107,630,714 (GRCm39)	missense	probably damaging	0.96
IGL03399:Or5p6	APN	7	107,630,789 (GRCm39)	missense	probably benign	0.02
R0660:Or5p6	UTSW	7	107,630,822 (GRCm39)	missense	probably damaging	1.00
R0722:Or5p6	UTSW	7	107,631,541 (GRCm39)	missense	probably benign	0.00
R1468:Or5p6	UTSW	7	107,631,595 (GRCm39)	splice site	probably null
R1468:Or5p6	UTSW	7	107,631,595 (GRCm39)	splice site	probably null
R2172:Or5p6	UTSW	7	107,630,674 (GRCm39)	missense	probably damaging	1.00
R4274:Or5p6	UTSW	7	107,630,751 (GRCm39)	missense	probably benign	0.01
R5164:Or5p6	UTSW	7	107,631,487 (GRCm39)	missense	possibly damaging	0.47
R5501:Or5p6	UTSW	7	107,631,360 (GRCm39)	nonsense	probably null
R7586:Or5p6	UTSW	7	107,631,128 (GRCm39)	missense	probably benign	0.00
R7846:Or5p6	UTSW	7	107,631,199 (GRCm39)	missense	probably benign	0.21
R8444:Or5p6	UTSW	7	107,631,070 (GRCm39)	missense	probably benign
R9026:Or5p6	UTSW	7	107,631,286 (GRCm39)	missense	probably damaging	0.96
R9120:Or5p6	UTSW	7	107,630,887 (GRCm39)	missense	probably damaging	1.00
R9211:Or5p6	UTSW	7	107,630,798 (GRCm39)	missense	probably damaging	1.00
R9323:Or5p6	UTSW	7	107,631,230 (GRCm39)	missense	probably benign	0.00
R9487:Or5p6	UTSW	7	107,631,163 (GRCm39)	missense	possibly damaging	0.95
R9708:Or5p6	UTSW	7	107,631,259 (GRCm39)	missense	probably benign	0.09
Z1176:Or5p6	UTSW	7	107,630,653 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAGCATATTGGGTGTGACAG -3'
(R):5'- TGCTTCAAACATGGTTCCTGTTG -3'

Sequencing Primer
(F):5'- CAGAAGATGAGTAACCTATGTCAGC -3'
(R):5'- AAACATGGTTCCTGTTGTTCCAC -3'

Posted On

2020-01-23