Mutagenetix > Incidental Mutation

Incidental Mutation 'R5605:Or6z7'

439243

Institutional Source

Beutler Lab

Gene Symbol

Or6z7

Ensembl Gene

ENSMUSG00000096228

Gene Name

olfactory receptor family 6 subfamily Z member 7

Synonyms

MOR103-8, Olfr5, GA_x6K02T2QGBW-3210997-3210059

MMRRC Submission

043270-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R5605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6483215-6490013 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6483325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 277 (V277M)

Ref Sequence

ENSEMBL: ENSMUSP00000147586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086318] [ENSMUST00000207658] [ENSMUST00000209866] [ENSMUST00000215302]

AlphaFold

Q60889

Predicted Effect

probably benign
Transcript: ENSMUST00000086318
AA Change: V277M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000083498
Gene: ENSMUSG00000096228
AA Change: V277M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	311	2.1e-50	PFAM
Pfam:7tm_1	45	294	6.9e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207658

Predicted Effect

probably benign
Transcript: ENSMUST00000209866
AA Change: V277M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000215302

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	A	18: 67,575,425 (GRCm39)	G83*	probably null	Het
Arap2	A	T	5: 62,772,410 (GRCm39)	M1476K	possibly damaging	Het
Catsper2	G	A	2: 121,227,533 (GRCm39)	R546C	possibly damaging	Het
Ceacam5	T	C	7: 17,481,161 (GRCm39)	F303L	probably benign	Het
Clvs1	A	G	4: 9,281,751 (GRCm39)	D65G	probably damaging	Het
Coq5	T	C	5: 115,421,776 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,168,699 (GRCm39)	V950E	probably damaging	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dnah7c	A	G	1: 46,837,395 (GRCm39)	D3936G	possibly damaging	Het
Doc2b	T	C	11: 75,662,786 (GRCm39)	E404G	probably damaging	Het
Dsg1b	C	T	18: 20,532,596 (GRCm39)	P547S	probably benign	Het
Eif1ad17	T	A	12: 87,978,768 (GRCm39)	C51S	probably damaging	Het
Erich6	A	G	3: 58,532,540 (GRCm39)	Y356H	probably damaging	Het
Galnt6	C	T	15: 100,595,106 (GRCm39)	R465Q	probably damaging	Het
Gbp5	T	C	3: 142,207,037 (GRCm39)	S69P	probably damaging	Het
Gdpd4	T	C	7: 97,655,507 (GRCm39)	V562A	probably benign	Het
Greb1	A	T	12: 16,758,727 (GRCm39)	V663D	probably damaging	Het
Gtf3c3	A	T	1: 54,455,085 (GRCm39)	S593T	probably benign	Het
H2-Eb1	T	C	17: 34,528,807 (GRCm39)	S113P	probably benign	Het
Herc3	C	T	6: 58,834,712 (GRCm39)	R240C	probably damaging	Het
Iqub	T	C	6: 24,505,620 (GRCm39)	D96G	probably benign	Het
Irag1	C	T	7: 110,545,209 (GRCm39)	C29Y	possibly damaging	Het
Kcnt2	A	T	1: 140,502,481 (GRCm39)	E858D	possibly damaging	Het
Lcor	T	A	19: 41,571,302 (GRCm39)	I165N	probably damaging	Het
Lrp2	C	T	2: 69,353,643 (GRCm39)	R539K	probably damaging	Het
Lrrc10	C	A	10: 116,881,805 (GRCm39)	P160T	probably damaging	Het
Map3k12	G	T	15: 102,412,300 (GRCm39)	D280E	probably benign	Het
Mcub	T	C	3: 129,710,658 (GRCm39)	E258G	probably damaging	Het
Mdn1	T	C	4: 32,765,664 (GRCm39)	S5208P	probably benign	Het
Med20	C	A	17: 47,934,069 (GRCm39)		probably benign	Het
Mertk	T	C	2: 128,580,227 (GRCm39)	V227A	probably benign	Het
Ncstn	A	G	1: 171,908,717 (GRCm39)		probably benign	Het
Nedd4l	T	C	18: 65,307,315 (GRCm39)		probably null	Het
Nfyc	A	G	4: 120,647,686 (GRCm39)		probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nt5dc1	C	T	10: 34,279,691 (GRCm39)	C117Y	probably benign	Het
Nup88	A	T	11: 70,834,896 (GRCm39)		probably benign	Het
Pbrm1	T	A	14: 30,757,949 (GRCm39)	I193K	probably benign	Het
Pcsk2	T	C	2: 143,591,165 (GRCm39)		probably benign	Het
Pdzd2	A	T	15: 12,592,436 (GRCm39)	C69*	probably null	Het
Polr1e	A	G	4: 45,018,723 (GRCm39)	T18A	probably benign	Het
Prima1	T	A	12: 103,166,163 (GRCm39)	I124F	probably benign	Het
Rbm34	T	C	8: 127,676,169 (GRCm39)	K382R	probably benign	Het
Rftn1	T	G	17: 50,354,435 (GRCm39)	N309T	probably damaging	Het
Septin1	C	T	7: 126,814,598 (GRCm39)	D260N	probably damaging	Het
Serpina3g	T	C	12: 104,207,299 (GRCm39)	V154A	probably damaging	Het
Spef2	A	T	15: 9,609,606 (GRCm39)	N1306K	probably damaging	Het
Stk4	T	C	2: 163,921,486 (GRCm39)	F29S	probably damaging	Het
Stxbp5	A	G	10: 9,645,490 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,919,733 (GRCm39)	T774A	probably benign	Het
Tinag	A	G	9: 76,952,694 (GRCm39)	Y97H	probably damaging	Het
Tpm1	T	C	9: 66,956,317 (GRCm39)	E33G	probably damaging	Het
Usp17lb	T	C	7: 104,489,847 (GRCm39)	E359G	probably benign	Het
Vmn2r91	A	G	17: 18,356,763 (GRCm39)	E810G	probably damaging	Het
Vwce	A	T	19: 10,635,402 (GRCm39)	T633S	possibly damaging	Het
Ylpm1	G	A	12: 85,075,627 (GRCm39)	R326H	probably damaging	Het

Other mutations in Or6z7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Or6z7	APN	7	6,483,997 (GRCm39)	missense	probably benign
IGL02174:Or6z7	APN	7	6,483,438 (GRCm39)	missense	probably benign
IGL03260:Or6z7	APN	7	6,483,658 (GRCm39)	missense	probably damaging	0.99
IGL03411:Or6z7	APN	7	6,483,435 (GRCm39)	missense	probably benign	0.26
R1186:Or6z7	UTSW	7	6,483,541 (GRCm39)	missense	probably benign	0.00
R1381:Or6z7	UTSW	7	6,484,008 (GRCm39)	splice site	probably null
R1981:Or6z7	UTSW	7	6,483,931 (GRCm39)	missense	probably benign	0.29
R1982:Or6z7	UTSW	7	6,483,931 (GRCm39)	missense	probably benign	0.29
R3876:Or6z7	UTSW	7	6,484,131 (GRCm39)	missense	probably benign	0.01
R3907:Or6z7	UTSW	7	6,483,678 (GRCm39)	missense	probably damaging	1.00
R4422:Or6z7	UTSW	7	6,484,037 (GRCm39)	nonsense	probably null
R4654:Or6z7	UTSW	7	6,484,045 (GRCm39)	missense	probably benign	0.00
R6962:Or6z7	UTSW	7	6,484,008 (GRCm39)	missense	probably benign	0.07
R7524:Or6z7	UTSW	7	6,483,586 (GRCm39)	missense	probably benign	0.04
R7576:Or6z7	UTSW	7	6,483,330 (GRCm39)	missense	probably damaging	0.97
R8306:Or6z7	UTSW	7	6,483,868 (GRCm39)	missense	possibly damaging	0.83
R8947:Or6z7	UTSW	7	6,483,246 (GRCm39)	missense	probably benign
R8967:Or6z7	UTSW	7	6,484,011 (GRCm39)	missense	possibly damaging	0.95
R9562:Or6z7	UTSW	7	6,483,243 (GRCm39)	missense	probably null	0.60
Z1177:Or6z7	UTSW	7	6,483,872 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGCATTAGACCAAAGATTTCCC -3'
(R):5'- CCTCCTATGTGGCTATTGGC -3'

Sequencing Primer
(F):5'- ATTGAACCCTGGTGATGCC -3'
(R):5'- GCTATTGGCAGGGCAGTTC -3'

Posted On

2016-10-26