Mutagenetix > Incidental Mutation

Incidental Mutation 'R7126:Or7a39'

552337

Institutional Source

Beutler Lab

Gene Symbol

Or7a39

Ensembl Gene

ENSMUSG00000062873

Gene Name

olfactory receptor family 7 subfamily A member 39

Synonyms

GA_x6K02T2QGN0-2932609-2931677, Olfr1355, MOR139-6

MMRRC Submission

045213-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R7126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78711383-78715940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78715411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 135 (V135A)

Ref Sequence

ENSEMBL: ENSMUSP00000077517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078414]

AlphaFold

Q7TQU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078414
AA Change: V135A

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077517
Gene: ENSMUSG00000062873
AA Change: V135A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	3.1e-48	PFAM
Pfam:7tm_1	42	291	1.1e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (73/75)

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
1810062G17Rik	T	C	3: 36,535,988 (GRCm39)	C85R	unknown	Het
3110082I17Rik	G	T	5: 139,347,005 (GRCm39)	H153Q	unknown	Het
Acadsb	T	C	7: 131,039,177 (GRCm39)	I316T	probably benign	Het
Acsbg2	A	T	17: 57,153,633 (GRCm39)	N523K	probably damaging	Het
Ahnak	C	T	19: 8,979,723 (GRCm39)	P336S	possibly damaging	Het
Ankdd1b	A	G	13: 96,566,370 (GRCm39)	V277A	possibly damaging	Het
Aspm	A	G	1: 139,408,541 (GRCm39)	Y2476C	probably benign	Het
Atg13	G	A	2: 91,510,765 (GRCm39)	R321W	probably damaging	Het
B4galt2	A	G	4: 117,734,735 (GRCm39)	F211S	probably damaging	Het
Baiap3	T	A	17: 25,464,119 (GRCm39)	T913S	possibly damaging	Het
Btbd18	A	T	2: 84,496,546 (GRCm39)	E61D	possibly damaging	Het
Btnl9	G	T	11: 49,060,082 (GRCm39)	S555R	probably damaging	Het
Cbs	T	A	17: 31,838,113 (GRCm39)	M379L	probably benign	Het
Chd9	G	A	8: 91,741,853 (GRCm39)	G1614D	unknown	Het
Cmya5	G	A	13: 93,226,448 (GRCm39)	P2880L	probably benign	Het
Cnnm1	T	C	19: 43,473,292 (GRCm39)	S729P	probably damaging	Het
Cox16	T	A	12: 81,518,940 (GRCm39)	E70D	probably benign	Het
Cp	A	G	3: 20,034,788 (GRCm39)	H699R	probably damaging	Het
Cyp2d26	T	C	15: 82,678,209 (GRCm39)	N56D	probably benign	Het
Dennd4c	A	G	4: 86,725,667 (GRCm39)	Y707C	probably damaging	Het
Dnah5	A	T	15: 28,349,983 (GRCm39)	E2555D	probably benign	Het
Ess2	T	C	16: 17,729,154 (GRCm39)	T6A	unknown	Het
Filip1	A	G	9: 79,805,577 (GRCm39)	L59P	possibly damaging	Het
Fsip2	A	G	2: 82,813,485 (GRCm39)	N3268S	possibly damaging	Het
Gja10	A	T	4: 32,601,014 (GRCm39)	C457S	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Gm47959	G	A	1: 82,978,503 (GRCm39)	G57S	unknown	Het
Grep1	C	T	17: 23,939,538 (GRCm39)	V8I	probably benign	Het
Grid2	T	A	6: 64,053,794 (GRCm39)	V331E	probably damaging	Het
Inpp4a	C	A	1: 37,413,353 (GRCm39)	H123Q	probably benign	Het
Ireb2	T	A	9: 54,793,851 (GRCm39)	Y260*	probably null	Het
Itpr2	G	A	6: 146,259,294 (GRCm39)	Q628*	probably null	Het
Kbtbd11	G	A	8: 15,078,759 (GRCm39)	A453T	probably damaging	Het
Kcnj2	A	G	11: 110,963,648 (GRCm39)	T347A	probably damaging	Het
Kif19b	A	T	5: 140,477,073 (GRCm39)	D874V	probably benign	Het
Klhl12	A	G	1: 134,395,521 (GRCm39)	H161R	probably damaging	Het
Krt78	T	C	15: 101,856,871 (GRCm39)	E412G	probably damaging	Het
Lzic	A	G	4: 149,573,132 (GRCm39)	I95V	probably damaging	Het
Mme	C	T	3: 63,276,322 (GRCm39)	P700S	probably damaging	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Mthfd2	A	G	6: 83,290,472 (GRCm39)	V53A	probably benign	Het
Mtus1	A	G	8: 41,468,439 (GRCm39)	L210P	probably damaging	Het
Muc16	T	C	9: 18,552,512 (GRCm39)	T4594A	probably benign	Het
Niban1	T	A	1: 151,590,318 (GRCm39)	C537*	probably null	Het
Olfm5	A	T	7: 103,809,187 (GRCm39)	C208S	probably damaging	Het
Or10q1	T	A	19: 13,726,887 (GRCm39)	I139N	possibly damaging	Het
Or2ad1	A	T	13: 21,326,888 (GRCm39)	L113H	probably damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Plin1	T	C	7: 79,376,412 (GRCm39)		probably null	Het
Prl7a1	C	T	13: 27,826,402 (GRCm39)		probably null	Het
Ptpn23	T	C	9: 110,217,812 (GRCm39)	D711G	probably benign	Het
Rgs22	A	T	15: 36,103,954 (GRCm39)	I169N	probably damaging	Het
Scn7a	G	T	2: 66,587,630 (GRCm39)	H24Q	possibly damaging	Het
Scrt2	C	T	2: 151,935,006 (GRCm39)	P53L	probably damaging	Het
Sh3rf1	A	T	8: 61,802,458 (GRCm39)	I264L	probably benign	Het
Smarcd1	A	T	15: 99,607,206 (GRCm39)	D393V	probably damaging	Het
Spag17	T	G	3: 100,008,751 (GRCm39)	N1960K	probably benign	Het
Ssb	A	G	2: 69,696,845 (GRCm39)	T62A	possibly damaging	Het
Taar7b	T	A	10: 23,875,960 (GRCm39)	Y42N	possibly damaging	Het
Terf1	A	T	1: 15,883,363 (GRCm39)	I159L	probably benign	Het
Tff3	T	G	17: 31,346,410 (GRCm39)	N54T	probably benign	Het
Top2a	A	G	11: 98,905,818 (GRCm39)	L285P	probably benign	Het
Trim24	A	G	6: 37,896,392 (GRCm39)	Y283C	probably damaging	Het
Trim58	T	C	11: 58,531,405 (GRCm39)	C38R	probably damaging	Het
Trpa1	T	A	1: 14,960,648 (GRCm39)	T647S	probably benign	Het
Trpm4	A	T	7: 44,960,133 (GRCm39)		probably null	Het
Trpm6	C	T	19: 18,831,397 (GRCm39)	Q1421*	probably null	Het
Ubr2	A	T	17: 47,284,982 (GRCm39)		probably null	Het
Vmn1r46	T	G	6: 89,953,976 (GRCm39)	I275S	possibly damaging	Het
Vmn2r54	A	G	7: 12,366,088 (GRCm39)	F282S	possibly damaging	Het
Vmn2r57	A	G	7: 41,049,218 (GRCm39)	S844P	possibly damaging	Het
Vps13a	A	C	19: 16,688,243 (GRCm39)	C855G	probably benign	Het
Wdr31	T	A	4: 62,381,666 (GRCm39)	Q55L	probably benign	Het

Other mutations in Or7a39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Or7a39	APN	10	78,715,671 (GRCm39)	missense	possibly damaging	0.95
IGL01773:Or7a39	APN	10	78,715,770 (GRCm39)	missense	possibly damaging	0.86
IGL02707:Or7a39	APN	10	78,715,759 (GRCm39)	missense	probably damaging	1.00
IGL03233:Or7a39	APN	10	78,715,406 (GRCm39)	nonsense	probably null
R1067:Or7a39	UTSW	10	78,715,517 (GRCm39)	nonsense	probably null
R1201:Or7a39	UTSW	10	78,715,311 (GRCm39)	missense	probably benign	0.12
R1956:Or7a39	UTSW	10	78,715,267 (GRCm39)	missense	probably benign	0.28
R1978:Or7a39	UTSW	10	78,715,114 (GRCm39)	missense	probably damaging	1.00
R2014:Or7a39	UTSW	10	78,715,222 (GRCm39)	missense	possibly damaging	0.94
R2015:Or7a39	UTSW	10	78,715,222 (GRCm39)	missense	possibly damaging	0.94
R2245:Or7a39	UTSW	10	78,715,765 (GRCm39)	missense	probably damaging	0.98
R3725:Or7a39	UTSW	10	78,715,766 (GRCm39)	nonsense	probably null
R4899:Or7a39	UTSW	10	78,715,041 (GRCm39)	missense	probably benign	0.32
R5696:Or7a39	UTSW	10	78,715,919 (GRCm39)	missense	probably benign	0.02
R5982:Or7a39	UTSW	10	78,715,787 (GRCm39)	nonsense	probably null
R6448:Or7a39	UTSW	10	78,715,516 (GRCm39)	missense	possibly damaging	0.78
R7385:Or7a39	UTSW	10	78,715,288 (GRCm39)	missense	probably damaging	0.97
R7807:Or7a39	UTSW	10	78,715,043 (GRCm39)	missense	probably benign
R7886:Or7a39	UTSW	10	78,715,657 (GRCm39)	missense	possibly damaging	0.59
R8313:Or7a39	UTSW	10	78,715,170 (GRCm39)	missense	probably benign	0.00
R8747:Or7a39	UTSW	10	78,715,155 (GRCm39)	missense	probably benign	0.14
R9507:Or7a39	UTSW	10	78,715,597 (GRCm39)	missense	probably benign	0.30
R9642:Or7a39	UTSW	10	78,715,395 (GRCm39)	missense	probably damaging	1.00
Z1177:Or7a39	UTSW	10	78,715,393 (GRCm39)	missense	possibly damaging	0.56
Z1177:Or7a39	UTSW	10	78,714,990 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCACTGTCCCAAAGATGCTG -3'
(R):5'- AATGGCTCCCAATAGAACAGGTAC -3'

Sequencing Primer
(F):5'- GTCCCAAAGATGCTGGTAAATATAC -3'
(R):5'- CTTGATAAGCTGTCTGAACATGTGAG -3'

Posted On

2019-05-15