Mutagenetix > Incidental Mutation

Incidental Mutation 'R0517:Or13p8'

48220

Institutional Source

Beutler Lab

Gene Symbol

Or13p8

Ensembl Gene

ENSMUSG00000070821

Gene Name

olfactory receptor family 13 subfamily P member 8

Synonyms

MOR258-6, Olfr1340, GA_x6K02T2QD9B-18823451-18822504

MMRRC Submission

038710-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R0517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118582919-118584393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118583831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 129 (I129K)

Ref Sequence

ENSEMBL: ENSMUSP00000149563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094834] [ENSMUST00000213436] [ENSMUST00000216242] [ENSMUST00000217334]

AlphaFold

Q3KPC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000094834
AA Change: I129K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092430
Gene: ENSMUSG00000070821
AA Change: I129K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	4.4e-57	PFAM
Pfam:7tm_1	44	293	1.3e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213436
AA Change: I129K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216242
AA Change: I129K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217334
AA Change: I129K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 37,292,024 (GRCm39)		probably benign	Het
Acer1	T	C	17: 57,262,569 (GRCm39)	T194A	probably benign	Het
Adamts1	C	A	16: 85,597,241 (GRCm39)	D10Y	possibly damaging	Het
Adamts7	T	C	9: 90,081,911 (GRCm39)	V1612A	probably benign	Het
Adcyap1r1	T	A	6: 55,468,282 (GRCm39)	S373T	probably damaging	Het
Asic5	A	T	3: 81,916,833 (GRCm39)	I266F	probably benign	Het
Cacna1d	A	T	14: 29,901,232 (GRCm39)	I274K	probably damaging	Het
Camsap2	G	T	1: 136,221,126 (GRCm39)	Q238K	possibly damaging	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Cerk	G	A	15: 86,040,849 (GRCm39)	T170I	probably damaging	Het
Cyp27b1	T	C	10: 126,885,985 (GRCm39)		probably null	Het
Cyp2c65	T	C	19: 39,070,792 (GRCm39)		probably benign	Het
Dennd5a	A	G	7: 109,533,968 (GRCm39)	S75P	probably damaging	Het
Dhx9	C	T	1: 153,354,662 (GRCm39)	A146T	possibly damaging	Het
Dpysl5	A	G	5: 30,935,410 (GRCm39)	D171G	probably damaging	Het
Dsg3	A	G	18: 20,662,082 (GRCm39)	N449S	probably benign	Het
Eps8l3	T	C	3: 107,790,776 (GRCm39)	S189P	probably benign	Het
Exph5	A	G	9: 53,284,062 (GRCm39)	E381G	probably benign	Het
Fbxo46	A	G	7: 18,870,799 (GRCm39)	M473V	possibly damaging	Het
Fgf14	G	A	14: 124,221,196 (GRCm39)	P203S	probably damaging	Het
Foxf2	C	T	13: 31,810,226 (GRCm39)	A55V	unknown	Het
Galnt5	T	G	2: 57,925,385 (GRCm39)		probably benign	Het
Glis2	T	C	16: 4,429,416 (GRCm39)	L181P	probably damaging	Het
Gm10000	T	G	12: 104,442,667 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,869,563 (GRCm39)	S2959P	probably benign	Het
Hyal6	A	G	6: 24,734,852 (GRCm39)	N262D	probably benign	Het
Lgr4	T	C	2: 109,841,665 (GRCm39)	L526P	probably damaging	Het
Mapk1	A	T	16: 16,833,910 (GRCm39)	I88F	probably benign	Het
Mpg	A	T	11: 32,181,853 (GRCm39)	H287L	probably benign	Het
Mpp4	A	T	1: 59,163,886 (GRCm39)	Y489*	probably null	Het
Mpzl1	T	C	1: 165,429,359 (GRCm39)	E224G	probably damaging	Het
Myh10	A	G	11: 68,702,425 (GRCm39)		probably null	Het
Odad2	A	C	18: 7,223,621 (GRCm39)	L474R	probably damaging	Het
Or5m9	T	C	2: 85,877,548 (GRCm39)	S241P	probably damaging	Het
Paip1	T	A	13: 119,584,326 (GRCm39)	F196I	probably damaging	Het
Pde3a	A	T	6: 141,444,383 (GRCm39)	K1064*	probably null	Het
Pira2	A	T	7: 3,847,196 (GRCm39)		probably benign	Het
Pros1	A	G	16: 62,723,881 (GRCm39)	S210G	probably benign	Het
Rbm15	A	T	3: 107,238,685 (GRCm39)	L571Q	probably damaging	Het
Scn1a	T	A	2: 66,132,751 (GRCm39)	T1194S	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Serpina1e	G	A	12: 103,915,486 (GRCm39)	T240I	probably benign	Het
Setx	T	G	2: 29,047,145 (GRCm39)	S1874R	probably benign	Het
Sgsm2	G	T	11: 74,758,477 (GRCm39)	T256K	possibly damaging	Het
Slc44a1	T	C	4: 53,542,366 (GRCm39)	V300A	probably damaging	Het
Spata46	A	G	1: 170,139,178 (GRCm39)	Y59C	probably damaging	Het
Supt3	T	C	17: 45,430,158 (GRCm39)	F404L	probably benign	Het
Tars1	T	A	15: 11,394,452 (GRCm39)	K62*	probably null	Het
Tas2r139	A	C	6: 42,118,425 (GRCm39)	T186P	probably damaging	Het
Tasor2	T	A	13: 3,616,964 (GRCm39)	T2367S	possibly damaging	Het
Tc2n	C	T	12: 101,615,454 (GRCm39)	S457N	probably damaging	Het
Tox4	A	T	14: 52,530,085 (GRCm39)	S582C	probably benign	Het
Trappc12	T	C	12: 28,747,133 (GRCm39)		probably benign	Het
Ubqlnl	G	T	7: 103,797,845 (GRCm39)	Q551K	probably damaging	Het
Ubr4	A	G	4: 139,119,435 (GRCm39)	T205A	probably benign	Het
Urb1	G	A	16: 90,574,310 (GRCm39)	Q924*	probably null	Het
Vmn1r49	A	G	6: 90,049,720 (GRCm39)	L94P	probably damaging	Het
Vmn2r120	T	C	17: 57,815,949 (GRCm39)	Y802C	probably damaging	Het
Xrcc1	C	T	7: 24,269,744 (GRCm39)		probably benign	Het

Other mutations in Or13p8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0153:Or13p8	UTSW	4	118,583,530 (GRCm39)	missense	possibly damaging	0.86
R0335:Or13p8	UTSW	4	118,584,367 (GRCm39)	missense	probably null
R4463:Or13p8	UTSW	4	118,583,855 (GRCm39)	missense	probably benign	0.32
R6240:Or13p8	UTSW	4	118,583,668 (GRCm39)	missense	probably benign	0.00
R6481:Or13p8	UTSW	4	118,583,930 (GRCm39)	missense	probably damaging	1.00
R6930:Or13p8	UTSW	4	118,584,338 (GRCm39)	missense	probably damaging	1.00
R7662:Or13p8	UTSW	4	118,583,504 (GRCm39)	missense	probably damaging	0.99
R7681:Or13p8	UTSW	4	118,583,761 (GRCm39)	missense	probably benign	0.00
R7782:Or13p8	UTSW	4	118,584,106 (GRCm39)	missense	probably damaging	1.00
R7845:Or13p8	UTSW	4	118,584,158 (GRCm39)	missense	probably benign	0.00
R8498:Or13p8	UTSW	4	118,583,822 (GRCm39)	missense	possibly damaging	0.78
R8529:Or13p8	UTSW	4	118,583,770 (GRCm39)	missense	probably benign	0.18
R8990:Or13p8	UTSW	4	118,584,224 (GRCm39)	missense	probably benign	0.01
R9017:Or13p8	UTSW	4	118,583,565 (GRCm39)	missense	probably benign
R9176:Or13p8	UTSW	4	118,583,850 (GRCm39)	nonsense	probably null
R9797:Or13p8	UTSW	4	118,584,079 (GRCm39)	missense	probably benign	0.27
T0970:Or13p8	UTSW	4	118,583,464 (GRCm39)	missense	probably benign
Z1176:Or13p8	UTSW	4	118,584,338 (GRCm39)	missense	probably damaging	1.00
Z1177:Or13p8	UTSW	4	118,584,261 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAATAGATGCTCGTCTCCACACACC -3'
(R):5'- AGGCCAACTTCAAGACAGCAGG -3'

Sequencing Primer
(F):5'- ACACACCCATGTATTTCTTTCTCAG -3'
(R):5'- TTCAAGACAGCAGGGATTTCAC -3'

Posted On

2013-06-12