Mutagenetix > Incidental Mutation

Incidental Mutation 'R0669:Or2a7'

218854

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

038854-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.437) question?

Stock #

R0669 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

43150922-43151854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43150938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 6 (T6I)

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: T6I

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000053813
Gene: ENSMUSG00000043605
AA Change: T6I

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: T6I

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.8%

Validation Efficiency

99% (80/81)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,089,671 (GRCm39)	H71L	possibly damaging	Het
Abcb11	C	A	2: 69,159,662 (GRCm39)	V10L	probably benign	Het
Abcb9	T	C	5: 124,200,950 (GRCm39)	T689A	probably damaging	Het
Adam22	A	G	5: 8,193,036 (GRCm39)		probably benign	Het
Adamts5	A	G	16: 85,696,614 (GRCm39)	I181T	probably benign	Het
Adamts9	A	T	6: 92,857,938 (GRCm39)	V231D	probably damaging	Het
Angptl6	C	T	9: 20,787,823 (GRCm39)	V197M	probably damaging	Het
Atp6v1c1	T	C	15: 38,677,772 (GRCm39)	V99A	probably benign	Het
Cacna2d3	A	G	14: 29,189,906 (GRCm39)	V110A	probably benign	Het
Ccdc32	A	G	2: 118,849,648 (GRCm39)		probably benign	Het
Cela3b	T	C	4: 137,155,841 (GRCm39)	H22R	probably benign	Het
Cep44	T	C	8: 56,994,008 (GRCm39)	T190A	possibly damaging	Het
Chsy1	T	C	7: 65,821,435 (GRCm39)	C557R	probably damaging	Het
Cntd1	A	G	11: 101,178,324 (GRCm39)	T308A	probably damaging	Het
Cutal	T	C	2: 34,775,878 (GRCm39)		probably benign	Het
Dipk1b	A	G	2: 26,524,878 (GRCm39)	T93A	probably benign	Het
Dna2	A	G	10: 62,792,768 (GRCm39)	D261G	probably damaging	Het
Dnhd1	T	A	7: 105,342,911 (GRCm39)	S1418R	probably benign	Het
Dnpep	A	G	1: 75,288,422 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,875,716 (GRCm39)	Y1075N	probably benign	Het
Eif2s1	C	T	12: 78,928,012 (GRCm39)		probably benign	Het
Ess2	T	C	16: 17,725,419 (GRCm39)	Y221C	probably damaging	Het
Fer1l6	T	C	15: 58,425,573 (GRCm39)		probably null	Het
Gm5592	T	C	7: 40,805,254 (GRCm39)		probably benign	Het
Ipp	A	G	4: 116,395,073 (GRCm39)	Y536C	probably damaging	Het
Krt72	T	C	15: 101,686,740 (GRCm39)	E402G	probably damaging	Het
Lamb3	T	C	1: 193,014,638 (GRCm39)	L599P	probably damaging	Het
Lingo2	T	A	4: 35,709,120 (GRCm39)	T287S	probably benign	Het
Lipo3	T	A	19: 33,537,025 (GRCm39)	T232S	probably benign	Het
Lrrc63	G	A	14: 75,363,550 (GRCm39)	H194Y	probably benign	Het
Map3k13	A	G	16: 21,725,274 (GRCm39)	T416A	probably benign	Het
Mcm3	A	T	1: 20,875,153 (GRCm39)		probably null	Het
Mms22l	T	C	4: 24,517,223 (GRCm39)	V258A	probably benign	Het
Mrpl46	A	T	7: 78,432,631 (GRCm39)	L49*	probably null	Het
Mrs2	T	C	13: 25,177,742 (GRCm39)	T369A	possibly damaging	Het
Mtrf1	T	A	14: 79,656,708 (GRCm39)	Y403*	probably null	Het
Muc20	G	A	16: 32,614,850 (GRCm39)	P176S	unknown	Het
Mup21	C	T	4: 62,068,964 (GRCm39)	C9Y	unknown	Het
Mup-ps21	A	T	4: 61,949,007 (GRCm39)		noncoding transcript	Het
Mybph	T	G	1: 134,125,081 (GRCm39)		probably null	Het
Mypn	A	G	10: 62,970,702 (GRCm39)		probably benign	Het
Nav2	T	C	7: 49,058,431 (GRCm39)	S124P	probably damaging	Het
Nrros	T	C	16: 31,962,241 (GRCm39)	D556G	probably damaging	Het
Numa1	A	C	7: 101,648,884 (GRCm39)	I872L	probably benign	Het
Or14c40	A	G	7: 86,313,544 (GRCm39)	I225V	possibly damaging	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4c11	A	T	2: 88,695,272 (GRCm39)	M108L	probably benign	Het
Or5p52	T	A	7: 107,502,446 (GRCm39)	I174K	probably damaging	Het
Pcdhb9	A	T	18: 37,535,308 (GRCm39)	N434I	probably damaging	Het
Pigq	A	T	17: 26,155,736 (GRCm39)		probably null	Het
Plxna2	T	G	1: 194,471,145 (GRCm39)	V972G	probably damaging	Het
Psma3	G	A	12: 71,035,269 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,703,975 (GRCm39)	T1336A	probably benign	Het
Rdh7	T	C	10: 127,720,598 (GRCm39)	D258G	probably benign	Het
Serpinb6c	A	G	13: 34,083,252 (GRCm39)	I54T	probably damaging	Het
Sh2d7	A	T	9: 54,448,633 (GRCm39)	Y218F	probably benign	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Slc12a8	A	T	16: 33,371,274 (GRCm39)	I137F	possibly damaging	Het
Smarca2	T	C	19: 26,683,600 (GRCm39)	V1153A	possibly damaging	Het
Smc6	A	T	12: 11,339,165 (GRCm39)	I334L	probably benign	Het
Sorcs1	A	G	19: 50,230,380 (GRCm39)		probably benign	Het
Taar8c	A	G	10: 23,977,401 (GRCm39)	L137P	probably damaging	Het
Tcam1	A	T	11: 106,176,252 (GRCm39)	D326V	possibly damaging	Het
Telo2	A	T	17: 25,324,797 (GRCm39)	V461D	probably benign	Het
Tmprss7	A	T	16: 45,498,325 (GRCm39)	C351*	probably null	Het
Trim66	T	A	7: 109,054,199 (GRCm39)		probably benign	Het
Ube2d1	G	T	10: 71,097,940 (GRCm39)	H32N	probably benign	Het
Ubp1	T	C	9: 113,793,736 (GRCm39)		probably benign	Het
Vma21	C	T	X: 70,863,763 (GRCm39)	T81M	probably damaging	Het
Vmn1r113	T	C	7: 20,521,345 (GRCm39)	S46P	probably benign	Het
Wars1	T	C	12: 108,831,944 (GRCm39)	S374G	probably benign	Het
Wbp1	T	C	6: 83,096,326 (GRCm39)	D277G	possibly damaging	Het
Zfp939	C	A	7: 39,123,209 (GRCm39)		noncoding transcript	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
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
R6480:Or2a7	UTSW	6	43,151,000 (GRCm39)	missense	probably benign	0.05
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'- TGTTAAGCAGCAAGATGACTCAGGG -3'
(R):5'- GCAGGCATAGGCAATGTCAACGATG -3'

Sequencing Primer
(F):5'- CTCAGGGATGTAAGTTAGCATCAC -3'
(R):5'- GGCCAGATGAGACAGGAAG -3'

Posted On

2014-08-21