Mutagenetix > Incidental Mutation

Incidental Mutation 'R0132:Or2z8'

60533

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

038417-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R0132 (G1)

Quality Score

225

Status

Not 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: 99.1%
3x: 97.9%
10x: 94.2%
20x: 84.8%

Validation Efficiency

90% (52/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Dazap1	T	G	10: 80,114,060 (GRCm39)		probably null	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Ugt2a2	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	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
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
R0257: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

2013-07-24