Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Or2z8'

34785

Institutional Source

Beutler Lab

Gene Symbol

Or2z8

Ensembl Gene

ENSMUSG00000069998

Gene Name

olfactory receptor family 2 subfamily Z member 8

Synonyms

MOR282-1, GA_x6K02T2NUPS-191522-192466, Olfr372

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R0257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72811504-72812519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72812244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 240 (T240M)

Ref Sequence

ENSEMBL: ENSMUSP00000149288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093434] [ENSMUST00000215324]

AlphaFold

Q7TRY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000093434
AA Change: T240M

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

SMART Domains

Protein: ENSMUSP00000132724
Gene: ENSMUSG00000069998
AA Change: T240M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2e-57	PFAM
Pfam:7TM_GPCR_Srsx	35	221	1.1e-7	PFAM
Pfam:7tm_1	41	290	6.4e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215324
AA Change: T240M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	A	11: 84,401,107 (GRCm39)	E171D	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adgre5	T	A	8: 84,458,624 (GRCm39)	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,717,790 (GRCm39)	M256L	probably benign	Het
Alk	A	T	17: 72,910,490 (GRCm39)	L72Q	probably damaging	Het
Ano2	C	A	6: 125,857,676 (GRCm39)	A505E	probably benign	Het
Bcas3	A	G	11: 85,712,865 (GRCm39)	K908E	probably benign	Het
C3ar1	A	G	6: 122,827,746 (GRCm39)	V157A	probably benign	Het
Car2	C	G	3: 14,965,037 (GRCm39)	H224D	probably benign	Het
Cfh	T	C	1: 140,071,773 (GRCm39)	D287G	probably benign	Het
Disp3	G	T	4: 148,335,211 (GRCm39)	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,661,671 (GRCm39)		probably benign	Het
Dmbt1	A	G	7: 130,708,123 (GRCm39)	E1281G	probably damaging	Het
Dmxl1	T	A	18: 50,088,870 (GRCm39)		probably benign	Het
Dtx3	T	C	10: 127,028,761 (GRCm39)	D159G	probably benign	Het
Ets2	T	A	16: 95,513,245 (GRCm39)	C140*	probably null	Het
Fbf1	T	C	11: 116,045,917 (GRCm39)	I226V	probably benign	Het
Fgd6	T	A	10: 93,879,777 (GRCm39)	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898 (GRCm39)	T179A	probably benign	Het
Galnt10	T	C	11: 57,671,904 (GRCm39)	M398T	probably damaging	Het
Grk5	G	T	19: 61,065,068 (GRCm39)		probably benign	Het
Gse1	A	G	8: 121,299,073 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,259,176 (GRCm39)		probably benign	Het
Iqgap2	A	G	13: 95,861,052 (GRCm39)		probably null	Het
Lama4	T	C	10: 38,970,880 (GRCm39)		probably benign	Het
Luzp2	A	G	7: 54,899,194 (GRCm39)	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534 (GRCm39)	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,705,649 (GRCm39)		probably benign	Het
Msh5	G	C	17: 35,251,840 (GRCm39)	R407G	probably damaging	Het
Myo1c	A	T	11: 75,556,342 (GRCm39)		probably null	Het
Nek5	T	C	8: 22,613,688 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,540,728 (GRCm39)	I894V	possibly damaging	Het
Pde4a	C	T	9: 21,103,717 (GRCm39)	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,150,930 (GRCm39)	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,660,080 (GRCm39)	S139N	probably benign	Het
Prob1	T	C	18: 35,786,092 (GRCm39)	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,495,382 (GRCm39)	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,589,842 (GRCm39)	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,441,664 (GRCm39)	M199L	probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,682,761 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,192,819 (GRCm39)	S369C	possibly damaging	Het
St18	T	A	1: 6,890,186 (GRCm39)	F539L	probably benign	Het
Stam2	C	T	2: 52,584,794 (GRCm39)	G500D	possibly damaging	Het
Stx16	G	A	2: 173,938,754 (GRCm39)	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610 (GRCm39)	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,765,904 (GRCm39)	S512N	probably benign	Het
Tiam2	T	C	17: 3,501,088 (GRCm39)	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343 (GRCm39)	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,778,556 (GRCm39)	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,741,045 (GRCm39)	S1264L	probably benign	Het
Ttn	T	A	2: 76,640,775 (GRCm39)	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,249,889 (GRCm39)	T794I	probably damaging	Het
Vmn2r52	T	A	7: 9,904,982 (GRCm39)	R286*	probably null	Het
Vps53	A	T	11: 76,068,211 (GRCm39)		probably benign	Het
Wdr18	A	G	10: 79,796,953 (GRCm39)		probably benign	Het
Wdr31	A	G	4: 62,378,755 (GRCm39)		probably null	Het
Zfp458	T	A	13: 67,407,706 (GRCm39)	K47*	probably null	Het
Zfp983	A	G	17: 21,880,356 (GRCm39)	T95A	probably benign	Het

Other mutations in Or2z8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03251:Or2z8	APN	8	72,811,920 (GRCm39)	missense	probably damaging	1.00
R0126:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0128:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0130:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0131:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0131:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0132:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0152:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0230:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0244:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0256:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0294:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0316:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0318:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0391:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0479:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0604:Or2z8	UTSW	8	72,812,244 (GRCm39)	missense	probably damaging	1.00
R0624:Or2z8	UTSW	8	72,812,006 (GRCm39)	missense	possibly damaging	0.94
R0631:Or2z8	UTSW	8	72,812,166 (GRCm39)	missense	probably damaging	0.99
R1785:Or2z8	UTSW	8	72,812,280 (GRCm39)	missense	probably damaging	1.00
R1786:Or2z8	UTSW	8	72,812,280 (GRCm39)	missense	probably damaging	1.00
R2040:Or2z8	UTSW	8	72,811,607 (GRCm39)	missense	possibly damaging	0.77
R4176:Or2z8	UTSW	8	72,812,028 (GRCm39)	missense	probably damaging	1.00
R4782:Or2z8	UTSW	8	72,811,938 (GRCm39)	missense	probably benign	0.00
R4799:Or2z8	UTSW	8	72,811,938 (GRCm39)	missense	probably benign	0.00
R6915:Or2z8	UTSW	8	72,811,574 (GRCm39)	missense	probably benign	0.19
R7512:Or2z8	UTSW	8	72,812,367 (GRCm39)	missense	probably damaging	1.00
R8255:Or2z8	UTSW	8	72,811,607 (GRCm39)	missense	possibly damaging	0.77
R9619:Or2z8	UTSW	8	72,811,605 (GRCm39)	missense	probably damaging	1.00
RF022:Or2z8	UTSW	8	72,812,468 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTCATGTGCAGACACATCAGCC -3'
(R):5'- GGATCGAAGGACATCATCGCTTCAC -3'

Sequencing Primer
(F):5'- ACATCAGCCTATGAGTTGGCG -3'
(R):5'- CAAGGACATTCGAACTTCTCTG -3'

Posted On

2013-05-09