Mutagenetix > Incidental Mutation

Incidental Mutation 'R5783:Or2ag13'

447864

Institutional Source

Beutler Lab

Gene Symbol

Or2ag13

Ensembl Gene

ENSMUSG00000108948

Gene Name

olfactory receptor family 2 subfamily AG member 13

Synonyms

Olfr695, GA_x6K02T2PBJ9-9092181-9091234, MOR283-6

MMRRC Submission

043380-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R5783 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106312939-106315552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106472541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 304 (V304F)

Ref Sequence

ENSEMBL: ENSMUSP00000150853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060879] [ENSMUST00000213721] [ENSMUST00000216009]

AlphaFold

Q8VFM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000060879
AA Change: V304F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050694
Gene: ENSMUSG00000109058
AA Change: V304F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5.2e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	296	1.8e-6	PFAM
Pfam:7tm_1	41	290	2.1e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213721
AA Change: V304F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216009
AA Change: V304F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217204

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,468,787 (GRCm39)	Y48F	probably damaging	Het
Apob	A	G	12: 8,051,022 (GRCm39)	D1082G	probably damaging	Het
Cald1	G	A	6: 34,730,468 (GRCm39)	A236T	possibly damaging	Het
Ccdc88b	A	C	19: 6,831,284 (GRCm39)	C553G	probably benign	Het
Cenpe	A	G	3: 134,967,341 (GRCm39)	D2161G	probably benign	Het
Cep78	G	T	19: 15,933,723 (GRCm39)	N618K	probably benign	Het
Chka	A	G	19: 3,914,661 (GRCm39)	N118D	probably damaging	Het
Dennd5a	A	C	7: 109,493,843 (GRCm39)	I1263S	probably damaging	Het
Dnaaf9	A	C	2: 130,581,003 (GRCm39)	F582L	possibly damaging	Het
Dnm3	T	C	1: 162,183,040 (GRCm39)	T92A	possibly damaging	Het
Dpp9	T	C	17: 56,518,655 (GRCm39)	K50E	probably damaging	Het
Fen1	G	T	19: 10,178,194 (GRCm39)	Y83*	probably null	Het
Gm1110	A	G	9: 26,793,632 (GRCm39)	I532T	probably benign	Het
H2bc21	T	C	3: 96,128,615 (GRCm39)	V45A	possibly damaging	Het
Impdh1	A	T	6: 29,206,342 (GRCm39)	F140Y	possibly damaging	Het
Kcnc4	T	C	3: 107,355,188 (GRCm39)	D420G	possibly damaging	Het
Kctd19	A	G	8: 106,113,612 (GRCm39)	V664A	probably benign	Het
Krt80	C	T	15: 101,257,360 (GRCm39)		probably null	Het
Lars2	T	G	9: 123,290,661 (GRCm39)	M876R	probably benign	Het
Lrrc9	A	G	12: 72,502,827 (GRCm39)	E266G	possibly damaging	Het
Mesd	T	A	7: 83,544,883 (GRCm39)	V120E	probably damaging	Het
Mogs	C	T	6: 83,095,652 (GRCm39)	T823I	probably damaging	Het
Mrgprh	C	A	17: 13,096,333 (GRCm39)	T191N	probably benign	Het
Mtss1	C	T	15: 58,815,373 (GRCm39)	S729N	probably benign	Het
Muc5b	G	T	7: 141,412,165 (GRCm39)	E1704*	probably null	Het
Or51m1	A	T	7: 103,578,149 (GRCm39)	I40F	probably damaging	Het
Or8k30	T	C	2: 86,338,982 (GRCm39)	Y60H	probably damaging	Het
Osbpl8	T	A	10: 111,103,644 (GRCm39)	L216*	probably null	Het
Pcdha5	T	C	18: 37,095,534 (GRCm39)	V681A	probably benign	Het
Pgap3	A	C	11: 98,281,290 (GRCm39)	V190G	probably benign	Het
Ppp2r5a	A	T	1: 191,086,837 (GRCm39)	Y373N	probably damaging	Het
Prkdc	T	C	16: 15,535,665 (GRCm39)	L1675P	probably damaging	Het
Rapgef2	T	G	3: 78,995,300 (GRCm39)	I635L	probably benign	Het
Rusc1	T	C	3: 88,995,452 (GRCm39)	D193G	probably damaging	Het
Ryr3	C	T	2: 112,483,343 (GRCm39)	V4140I	probably benign	Het
Scamp5	A	G	9: 57,353,353 (GRCm39)		probably null	Het
Shoc1	A	T	4: 59,076,239 (GRCm39)	L568*	probably null	Het
Slc41a3	T	C	6: 90,596,524 (GRCm39)	I31T	probably benign	Het
Smad9	T	C	3: 54,701,863 (GRCm39)	V368A	probably benign	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
St8sia1	T	C	6: 142,909,340 (GRCm39)	N52S	possibly damaging	Het
Svop	T	G	5: 114,202,996 (GRCm39)	D72A	possibly damaging	Het
Sybu	T	C	15: 44,609,810 (GRCm39)	I153V	probably damaging	Het
Tmem266	G	T	9: 55,305,087 (GRCm39)	S32I	probably damaging	Het
Trpm4	G	T	7: 44,959,813 (GRCm39)	R694S	probably benign	Het
Uqcrfs1	A	G	13: 30,729,187 (GRCm39)	L15P	probably damaging	Het
Vrtn	T	A	12: 84,697,251 (GRCm39)	L667Q	probably benign	Het
Zc3h14	T	A	12: 98,723,434 (GRCm39)	S241R	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp617	C	A	8: 72,686,308 (GRCm39)	H213N	probably damaging	Het
Zfp638	G	A	6: 83,921,829 (GRCm39)	G652D	possibly damaging	Het
Zmiz2	T	C	11: 6,355,081 (GRCm39)	L916P	probably damaging	Het

Other mutations in Or2ag13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Or2ag13	APN	7	106,473,460 (GRCm39)	utr 5 prime	probably benign
IGL02143:Or2ag13	APN	7	106,473,180 (GRCm39)	missense	probably benign	0.02
R0492:Or2ag13	UTSW	7	106,473,084 (GRCm39)	missense	probably damaging	1.00
R1816:Or2ag13	UTSW	7	106,472,695 (GRCm39)	nonsense	probably null
R1834:Or2ag13	UTSW	7	106,473,348 (GRCm39)	missense	probably damaging	1.00
R2011:Or2ag13	UTSW	7	106,472,634 (GRCm39)	missense	probably benign	0.03
R3434:Or2ag13	UTSW	7	106,472,976 (GRCm39)	missense	probably benign	0.01
R3842:Or2ag13	UTSW	7	106,473,302 (GRCm39)	missense	probably benign	0.07
R4405:Or2ag13	UTSW	7	106,472,580 (GRCm39)	missense	probably damaging	1.00
R4742:Or2ag13	UTSW	7	106,472,635 (GRCm39)	missense	probably damaging	0.99
R4815:Or2ag13	UTSW	7	106,473,444 (GRCm39)	missense	probably benign
R4851:Or2ag13	UTSW	7	106,473,221 (GRCm39)	missense	probably damaging	1.00
R4856:Or2ag13	UTSW	7	106,473,177 (GRCm39)	missense	probably damaging	1.00
R5663:Or2ag13	UTSW	7	106,472,877 (GRCm39)	missense	probably benign	0.43
R6552:Or2ag13	UTSW	7	106,313,850 (GRCm39)	small deletion	probably benign
R6640:Or2ag13	UTSW	7	106,313,247 (GRCm39)	missense	probably damaging	1.00
R6798:Or2ag13	UTSW	7	106,313,402 (GRCm39)	missense	probably damaging	1.00
R7365:Or2ag13	UTSW	7	106,313,171 (GRCm39)	missense	probably benign	0.03
R7496:Or2ag13	UTSW	7	106,313,435 (GRCm39)	missense	probably benign	0.23
R7923:Or2ag13	UTSW	7	106,313,649 (GRCm39)	nonsense	probably null
R9012:Or2ag13	UTSW	7	106,313,115 (GRCm39)	missense	probably benign	0.10
R9572:Or2ag13	UTSW	7	106,313,546 (GRCm39)	missense	probably damaging	1.00
R9596:Or2ag13	UTSW	7	106,313,412 (GRCm39)	missense	probably benign	0.01
R9756:Or2ag13	UTSW	7	106,313,002 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGTGCCAGGTAAGTCAGC -3'
(R):5'- GAAGAAAGCCCTTGTCACATG -3'

Sequencing Primer
(F):5'- CAGGTAAGTCAGCTCACAGTTTC -3'
(R):5'- CACATCTGACTGTAGTTGGAATG -3'

Posted On

2016-12-15