Mutagenetix > Incidental Mutation

Incidental Mutation 'R9507:Or7a39'

717885

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

Accession Numbers

Essential gene?

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

Stock #

R9507 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78711383-78715940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78715597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 197 (H197R)

Ref Sequence

ENSEMBL: ENSMUSP00000077517 (fasta)

Gene Model

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

AlphaFold

Q7TQU9

Predicted Effect

probably benign
Transcript: ENSMUST00000078414
AA Change: H197R

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077517
Gene: ENSMUSG00000062873
AA Change: H197R

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: 99.6%
20x: 98.8%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	A	G	19: 8,866,587 (GRCm39)	T47A	probably damaging	Het
Acsm2	A	T	7: 119,179,939 (GRCm39)	I386F	probably benign	Het
Actn4	A	T	7: 28,606,397 (GRCm39)	D305E	probably benign	Het
Anln	A	G	9: 22,274,136 (GRCm39)	V567A	probably damaging	Het
Arhgap35	A	G	7: 16,297,343 (GRCm39)	I574T	probably benign	Het
Baz1b	C	A	5: 135,233,971 (GRCm39)	S166Y	probably damaging	Het
Ccdc191	T	C	16: 43,764,192 (GRCm39)	L551P	probably damaging	Het
Cdk5rap2	T	C	4: 70,210,110 (GRCm39)	T713A	probably benign	Het
Cep290	C	A	10: 100,330,785 (GRCm39)	A155E	possibly damaging	Het
Chst8	G	A	7: 34,447,496 (GRCm39)	Q41*	probably null	Het
Cyp2j6	C	A	4: 96,406,344 (GRCm39)	E476*	probably null	Het
Des	T	C	1: 75,343,434 (GRCm39)	V439A	probably benign	Het
Dimt1	A	G	13: 107,093,656 (GRCm39)	T283A	probably benign	Het
Dmxl1	T	A	18: 50,024,567 (GRCm39)	V1747D	possibly damaging	Het
Fhod1	G	A	8: 106,064,694 (GRCm39)	R137*	probably null	Het
Gab2	A	T	7: 96,953,448 (GRCm39)	D608V	probably damaging	Het
Gdpd1	T	C	11: 86,950,264 (GRCm39)	D103G	possibly damaging	Het
Hspa5	T	C	2: 34,664,610 (GRCm39)	S355P	probably benign	Het
Ide	A	T	19: 37,265,536 (GRCm39)	F619L		Het
Ifrd1	A	C	12: 40,267,225 (GRCm39)	D70E	probably benign	Het
Il18r1	T	A	1: 40,513,884 (GRCm39)	V30E	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcng1	A	G	2: 168,111,152 (GRCm39)	L4S	probably damaging	Het
Lrfn4	A	G	19: 4,664,357 (GRCm39)	F59S	probably damaging	Het
Lrrc15	T	C	16: 30,092,829 (GRCm39)	D170G	probably damaging	Het
Mettl21e	T	A	1: 44,245,536 (GRCm39)	M237L	probably benign	Het
Myh1	A	G	11: 67,102,049 (GRCm39)	K810E	probably benign	Het
Nbea	T	C	3: 55,573,011 (GRCm39)	D2524G	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nutm2	A	T	13: 50,621,455 (GRCm39)	T7S	probably benign	Het
Or10g3b	A	T	14: 52,586,678 (GRCm39)	L275H	probably damaging	Het
Or2a5	G	T	6: 42,873,835 (GRCm39)	C150F	probably benign	Het
Or2t49	T	C	11: 58,392,576 (GRCm39)	T275A	possibly damaging	Het
Or51q1	T	G	7: 103,629,198 (GRCm39)	F266L	probably damaging	Het
Or6k2	T	A	1: 173,986,552 (GRCm39)	I71K	possibly damaging	Het
Pate4	A	G	9: 35,519,538 (GRCm39)	S51P	probably damaging	Het
Rbm19	T	C	5: 120,265,232 (GRCm39)		probably null	Het
Rnf139	A	G	15: 58,770,664 (GRCm39)	K230E	probably damaging	Het
Rpia	G	A	6: 70,754,377 (GRCm39)	Q134*	probably null	Het
Rsf1	GC	GCGGCGGCGCC	7: 97,229,141 (GRCm39)		probably benign	Het
Sbk2	G	A	7: 4,960,277 (GRCm39)	P298S	possibly damaging	Het
Scrt1	A	G	15: 76,403,292 (GRCm39)	S233P	unknown	Het
Sh2b1	CGGGGACCAGCTC	CGGGGACCAGCTCAGCCAAGGGGACCAGCTC	7: 126,066,760 (GRCm39)		probably benign	Het
Sppl2c	T	A	11: 104,078,153 (GRCm39)	Y318N	probably benign	Het
St6galnac4	G	A	2: 32,485,739 (GRCm39)	W215*	probably null	Het
Stxbp6	A	G	12: 45,066,360 (GRCm39)	L15P	probably benign	Het
Tmem104	T	C	11: 115,091,699 (GRCm39)	L74P	probably damaging	Het
Tnfrsf10b	A	G	14: 70,015,221 (GRCm39)	D233G	probably benign	Het
Trmt11	A	C	10: 30,434,938 (GRCm39)	Y369*	probably null	Het
Tusc1	T	A	4: 93,223,245 (GRCm39)	H138L	probably benign	Het
Ush2a	T	A	1: 188,596,937 (GRCm39)	Y3892*	probably null	Het
Xirp2	A	T	2: 67,344,280 (GRCm39)	I2174F	possibly damaging	Het
Zfp947	C	T	17: 22,364,582 (GRCm39)	G364D	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
R7126:Or7a39	UTSW	10	78,715,411 (GRCm39)	missense	possibly damaging	0.50
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
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'- CAACAACTCTGTATGCTGATGG -3'
(R):5'- AAGAGTGAGAGCTTTGGACCAC -3'

Sequencing Primer
(F):5'- AACAACTCTGTATGCTGATGGTTCTG -3'
(R):5'- AGCTTTGGACCACAGCAG -3'

Posted On

2022-07-18