Mutagenetix > Incidental Mutation

Incidental Mutation 'R1978:Or7a39'

222038

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

039991-MU

Accession Numbers

Essential gene?

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

Stock #

R1978 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78711383-78715940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78715114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 36 (Y36C)

Ref Sequence

ENSEMBL: ENSMUSP00000077517 (fasta)

Gene Model

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

AlphaFold

Q7TQU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000078414
AA Change: Y36C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077517
Gene: ENSMUSG00000062873
AA Change: Y36C

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,880 (GRCm39)	C205*	probably null	Het
4921539E11Rik	T	A	4: 103,127,961 (GRCm39)	T55S	possibly damaging	Het
Akap12	A	G	10: 4,263,855 (GRCm39)	D88G	probably benign	Het
Ankrd53	C	A	6: 83,740,185 (GRCm39)	F84L	probably damaging	Het
Apol7b	A	C	15: 77,307,539 (GRCm39)	F319V	probably damaging	Het
Bsn	A	G	9: 107,991,748 (GRCm39)	S1335P	probably benign	Het
Cep192	T	C	18: 67,936,228 (GRCm39)		probably null	Het
Cfap57	A	G	4: 118,450,329 (GRCm39)	S598P	probably benign	Het
Commd8	T	C	5: 72,322,842 (GRCm39)	H25R	probably damaging	Het
Crisp4	T	C	1: 18,198,889 (GRCm39)	I143V	probably benign	Het
Cyp4a12b	A	T	4: 115,295,342 (GRCm39)	T483S	probably benign	Het
Dbx2	C	T	15: 95,530,234 (GRCm39)	M244I	probably damaging	Het
Dnah6	T	G	6: 73,098,953 (GRCm39)	H1982P	possibly damaging	Het
Fam220a	C	A	5: 143,548,882 (GRCm39)	P98Q	probably damaging	Het
Ggnbp1	A	G	17: 27,248,517 (GRCm39)	K29E	possibly damaging	Het
Gm14569	A	C	X: 35,695,781 (GRCm39)	M976R	probably benign	Het
Hck	G	T	2: 152,971,776 (GRCm39)	W112C	probably damaging	Het
Heatr5a	A	T	12: 51,986,441 (GRCm39)	S591T	possibly damaging	Het
Hhat	A	G	1: 192,399,415 (GRCm39)	S242P	probably benign	Het
Hnrnpll	A	G	17: 80,351,947 (GRCm39)	S333P	probably benign	Het
Hoxc6	T	C	15: 102,918,439 (GRCm39)		probably null	Het
Inpp5j	G	A	11: 3,452,150 (GRCm39)	P367S	probably damaging	Het
Lamc2	A	G	1: 153,009,343 (GRCm39)		probably null	Het
Loxhd1	T	A	18: 77,409,338 (GRCm39)	I194N	possibly damaging	Het
Miga1	CCAGGGCAG	CCAG	3: 152,040,941 (GRCm39)		probably null	Het
Mkln1	C	T	6: 31,467,465 (GRCm39)	Q60*	probably null	Het
Muc21	T	A	17: 35,933,857 (GRCm39)		probably benign	Het
Mybph	C	A	1: 134,124,734 (GRCm39)	H185N	probably benign	Het
Myo1g	T	C	11: 6,470,829 (GRCm39)	D9G	possibly damaging	Het
Myo6	A	T	9: 80,136,207 (GRCm39)	D110V	probably damaging	Het
Ncoa7	A	G	10: 30,567,295 (GRCm39)	V412A	probably benign	Het
Neb	T	C	2: 52,177,357 (GRCm39)	K1328R	probably damaging	Het
Olfm5	T	A	7: 103,813,948 (GRCm39)	Q22L	unknown	Het
Or10ak7	A	T	4: 118,791,381 (GRCm39)	Y221*	probably null	Het
Or4d11	T	C	19: 12,013,705 (GRCm39)	T134A	probably benign	Het
Or5j1	C	T	2: 86,879,179 (GRCm39)	V134M	possibly damaging	Het
Or6b3	C	A	1: 92,439,499 (GRCm39)	G84C	probably damaging	Het
Or6p1	T	A	1: 174,258,657 (GRCm39)	I221N	probably damaging	Het
P3h1	A	T	4: 119,105,173 (GRCm39)	Q717L	probably null	Het
Pclo	T	C	5: 14,763,809 (GRCm39)	I4094T	unknown	Het
Pfdn6	G	A	17: 34,158,051 (GRCm39)	R73W	probably benign	Het
Phyhipl	A	C	10: 70,395,591 (GRCm39)	M205R	possibly damaging	Het
Pitpnm1	C	T	19: 4,157,973 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,594,498 (GRCm39)		probably null	Het
Pnldc1	A	G	17: 13,125,392 (GRCm39)	S81P	possibly damaging	Het
Pno1	T	C	11: 17,154,519 (GRCm39)	I221V	possibly damaging	Het
Porcn	A	G	X: 8,070,540 (GRCm39)	V75A	probably damaging	Het
Prkcg	T	A	7: 3,353,862 (GRCm39)	C69S	probably damaging	Het
Rbbp6	G	T	7: 122,598,711 (GRCm39)		probably benign	Het
Resf1	T	A	6: 149,227,930 (GRCm39)	N325K	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scly	A	G	1: 91,247,891 (GRCm39)	D413G	probably damaging	Het
Scn11a	G	A	9: 119,609,861 (GRCm39)	R996*	probably null	Het
Skic3	T	C	13: 76,282,934 (GRCm39)	V752A	probably benign	Het
Slc6a13	A	T	6: 121,309,332 (GRCm39)	D281V	probably damaging	Het
Slfn5	T	C	11: 82,847,442 (GRCm39)	V109A	probably benign	Het
Smyd1	A	T	6: 71,289,703 (GRCm39)		probably null	Het
Snx29	T	A	16: 11,185,588 (GRCm39)	M57K	probably benign	Het
Stag1	T	G	9: 100,770,139 (GRCm39)	I603S	probably benign	Het
Svep1	C	A	4: 58,097,292 (GRCm39)	C1417F	possibly damaging	Het
Tbc1d23	T	C	16: 57,009,714 (GRCm39)	I392V	probably benign	Het
Tchh	T	C	3: 93,354,106 (GRCm39)	L1182P	unknown	Het
Tle3	T	A	9: 61,301,915 (GRCm39)	V108E	probably damaging	Het
Tmem144	T	C	3: 79,732,707 (GRCm39)		probably null	Het
Tpr	T	G	1: 150,295,658 (GRCm39)	L894V	possibly damaging	Het
Trappc9	A	T	15: 72,871,874 (GRCm39)	V472E	probably damaging	Het
Trim38	T	C	13: 23,975,081 (GRCm39)	V340A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r12	T	A	6: 57,136,494 (GRCm39)	I197N	possibly damaging	Het
Vmn1r26	T	C	6: 57,986,111 (GRCm39)	Y26C	possibly damaging	Het
Vwa3a	A	G	7: 120,358,177 (GRCm39)	I83V	probably null	Het
Xirp1	C	T	9: 119,847,657 (GRCm39)	E409K	probably benign	Het
Zc3h14	T	G	12: 98,730,181 (GRCm39)	I46R	probably damaging	Het
Zfp976	A	G	7: 42,263,265 (GRCm39)	C191R	probably damaging	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
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
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'- TCAGTGTGAGAATTGTCCCG -3'
(R):5'- CAGGAGAAAGTTGTCCAGTTCTCC -3'

Sequencing Primer
(F):5'- CAGTGTGAGAATTGTCCCGTTATC -3'
(R):5'- GACATCTGGCTAATACAGTCTGC -3'

Posted On

2014-08-25