Mutagenetix > Incidental Mutation

Incidental Mutation 'R6480:Or2a7'

517026

Institutional Source

Beutler Lab

Gene Symbol

Or2a7

Ensembl Gene

ENSMUSG00000043605

Gene Name

olfactory receptor family 2 subfamily A member 7

Synonyms

MOR261-6, GA_x6K02T2P3E9-4384160-4383228, Olfr13

MMRRC Submission

044612-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.495) question?

Stock #

R6480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43150922-43151854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43151000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 27 (F27L)

Ref Sequence

ENSEMBL: ENSMUSP00000149893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059512] [ENSMUST00000205175] [ENSMUST00000216179]

AlphaFold

P34984

Predicted Effect

probably benign
Transcript: ENSMUST00000059512
AA Change: F27L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000053813
Gene: ENSMUSG00000043605
AA Change: F27L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	4.8e-60	PFAM
Pfam:7TM_GPCR_Srsx	34	218	1.3e-6	PFAM
Pfam:7tm_1	40	289	6e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205175

SMART Domains

Protein: ENSMUSP00000145490
Gene: ENSMUSG00000071481

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	7.5e-60	PFAM
Pfam:7tm_1	40	289	3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216179
AA Change: F27L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (57/58)

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
Arl8b	T	A	6: 108,792,010 (GRCm39)	N90K	possibly damaging	Het
Art3	T	C	5: 92,540,676 (GRCm39)	F140L	probably damaging	Het
Ascc3	T	A	10: 50,587,049 (GRCm39)	M967K	probably damaging	Het
Ccne1	G	A	7: 37,806,279 (GRCm39)		probably benign	Het
Cdc14b	T	C	13: 64,373,464 (GRCm39)		probably null	Het
Ceacam2	T	A	7: 25,219,414 (GRCm39)	E282V	probably damaging	Het
Clk4	T	A	11: 51,161,373 (GRCm39)	C86*	probably null	Het
Cul2	A	C	18: 3,417,561 (GRCm39)	K115T	possibly damaging	Het
Dhx29	A	T	13: 113,090,322 (GRCm39)	K800*	probably null	Het
Dlec1	T	C	9: 118,976,758 (GRCm39)	F1741S	probably benign	Het
Dnah12	A	G	14: 26,594,412 (GRCm39)	T3455A	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drd4	A	T	7: 140,874,706 (GRCm39)	I366F	possibly damaging	Het
Fam169b	T	A	7: 68,003,466 (GRCm39)	Y273*	probably null	Het
Fbn1	T	A	2: 125,177,338 (GRCm39)	Y1833F	probably benign	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gjb6	T	C	14: 57,361,899 (GRCm39)	I121V	probably benign	Het
Glg1	T	C	8: 111,924,338 (GRCm39)	T217A	possibly damaging	Het
Igkv5-48	A	G	6: 69,703,810 (GRCm39)	S32P	probably benign	Het
Itgax	C	A	7: 127,747,771 (GRCm39)	F1062L	probably benign	Het
Lct	G	A	1: 128,222,057 (GRCm39)	T1494I	probably damaging	Het
Lilra6	G	A	7: 3,915,932 (GRCm39)	T309I	probably damaging	Het
Mical3	T	C	6: 121,011,236 (GRCm39)	T321A	possibly damaging	Het
Mmp23	T	A	4: 155,736,798 (GRCm39)	N104I	probably damaging	Het
Muc17	T	C	5: 137,171,238 (GRCm39)	Y131C		Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Ndufs2	A	G	1: 171,064,267 (GRCm39)	S348P	probably damaging	Het
Nepro	T	C	16: 44,547,438 (GRCm39)	S52P	probably damaging	Het
Nlrp6	A	G	7: 140,507,356 (GRCm39)	E874G	possibly damaging	Het
Nsmce1	A	G	7: 125,090,590 (GRCm39)	V9A	probably benign	Het
Or1q1	T	C	2: 36,887,007 (GRCm39)	F62L	probably benign	Het
Or5b105	T	A	19: 13,079,838 (GRCm39)	T277S	probably benign	Het
Or6c3	A	T	10: 129,308,590 (GRCm39)	I10F	possibly damaging	Het
Per2	A	T	1: 91,357,104 (GRCm39)		probably null	Het
Pgbd1	T	C	13: 21,607,646 (GRCm39)	I183V	probably benign	Het
Pik3c2g	T	C	6: 139,676,195 (GRCm39)	V113A	probably benign	Het
Pipox	A	G	11: 77,773,474 (GRCm39)	L259P	probably damaging	Het
Pkd1l3	C	T	8: 110,365,019 (GRCm39)	Q1124*	probably null	Het
Plcd3	A	G	11: 102,965,757 (GRCm39)	S492P	possibly damaging	Het
Rcor2	T	G	19: 7,248,411 (GRCm39)	M142R	probably benign	Het
Rwdd3	T	C	3: 120,950,101 (GRCm39)	E115G	probably damaging	Het
Slc13a3	T	C	2: 165,250,818 (GRCm39)	Y475C	probably damaging	Het
Slc14a2	A	T	18: 78,202,297 (GRCm39)	I611N	possibly damaging	Het
Slc25a24	G	T	3: 109,043,617 (GRCm39)	M91I	probably damaging	Het
Spg11	T	C	2: 121,922,786 (GRCm39)	S888G	probably benign	Het
Spta1	A	T	1: 174,014,714 (GRCm39)		probably null	Het
Stk35	C	A	2: 129,652,607 (GRCm39)	D369E	possibly damaging	Het
Tanc1	T	C	2: 59,637,986 (GRCm39)	S889P	probably damaging	Het
Tbc1d10b	T	C	7: 126,798,050 (GRCm39)	N697S	probably damaging	Het
Tcof1	A	T	18: 60,947,852 (GRCm39)		probably null	Het
Tg	T	A	15: 66,543,160 (GRCm39)	Y25N	probably damaging	Het
Thbs1	T	C	2: 117,949,598 (GRCm39)	C563R	probably damaging	Het
Tlr11	A	G	14: 50,600,512 (GRCm39)	S833G	possibly damaging	Het
Uggt2	T	A	14: 119,294,976 (GRCm39)	H550L	probably benign	Het
Utp20	A	G	10: 88,591,048 (GRCm39)		probably null	Het
Wbp1l	T	A	19: 46,642,758 (GRCm39)	L253Q	probably damaging	Het
Zfp433	T	A	10: 81,556,078 (GRCm39)	S161R	possibly damaging	Het
Zfp865	A	G	7: 5,032,782 (GRCm39)	T256A	probably damaging	Het
Zpr1	A	G	9: 46,186,009 (GRCm39)	D160G	probably benign	Het

Other mutations in Or2a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
N/A - 293:Or2a7	UTSW	6	43,151,493 (GRCm39)	missense	probably benign	0.45
R0279:Or2a7	UTSW	6	43,151,692 (GRCm39)	missense	probably benign	0.03
R0594:Or2a7	UTSW	6	43,151,541 (GRCm39)	missense	possibly damaging	0.64
R0669:Or2a7	UTSW	6	43,150,938 (GRCm39)	missense	probably benign	0.36
R1339:Or2a7	UTSW	6	43,151,544 (GRCm39)	missense	probably benign	0.39
R1371:Or2a7	UTSW	6	43,151,234 (GRCm39)	missense	probably benign	0.01
R1669:Or2a7	UTSW	6	43,151,755 (GRCm39)	missense	probably damaging	1.00
R1832:Or2a7	UTSW	6	43,151,834 (GRCm39)	missense	probably benign
R2136:Or2a7	UTSW	6	43,151,435 (GRCm39)	missense	probably benign
R4358:Or2a7	UTSW	6	43,151,160 (GRCm39)	missense	probably damaging	0.97
R4755:Or2a7	UTSW	6	43,150,977 (GRCm39)	missense	probably benign	0.00
R4933:Or2a7	UTSW	6	43,151,255 (GRCm39)	missense	probably benign	0.22
R5504:Or2a7	UTSW	6	43,151,572 (GRCm39)	nonsense	probably null
R5677:Or2a7	UTSW	6	43,151,265 (GRCm39)	missense	probably benign	0.35
R5917:Or2a7	UTSW	6	43,151,646 (GRCm39)	missense	probably damaging	1.00
R6287:Or2a7	UTSW	6	43,151,369 (GRCm39)	missense	probably benign	0.00
R7020:Or2a7	UTSW	6	43,151,096 (GRCm39)	missense	possibly damaging	0.91
R7240:Or2a7	UTSW	6	43,151,435 (GRCm39)	missense	probably benign
R8925:Or2a7	UTSW	6	43,151,669 (GRCm39)	missense	probably benign	0.44
R8927:Or2a7	UTSW	6	43,151,669 (GRCm39)	missense	probably benign	0.44
R9652:Or2a7	UTSW	6	43,150,991 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAGCATCACAGAAGGCTATGAGG -3'
(R):5'- GGAAATGGGCTTCACTGGATC -3'

Sequencing Primer
(F):5'- GGCTATGAGGAGAAAACCAACTC -3'
(R):5'- GGCTTCACTGGATCTAAAAGGTTCAC -3'

Posted On

2018-05-21