Mutagenetix > Incidental Mutation

Incidental Mutation 'R2040:Or2z8'

225536

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

040047-MU

Accession Numbers

Essential gene?

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

Stock #

R2040 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72811504-72812519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72811607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 28 (F28I)

Ref Sequence

ENSEMBL: ENSMUSP00000149288 (fasta)

Gene Model

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

AlphaFold

Q7TRY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093434
AA Change: F28I

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132724
Gene: ENSMUSG00000069998
AA Change: F28I

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

possibly damaging
Transcript: ENSMUST00000215324
AA Change: F28I

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1578

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,693,607 (GRCm39)	I75L	probably benign	Het
Abca2	T	C	2: 25,333,817 (GRCm39)	L1755P	probably damaging	Het
Adam6b	A	T	12: 113,454,364 (GRCm39)	I394L	probably benign	Het
Ano2	T	A	6: 126,016,471 (GRCm39)	N1001K	probably benign	Het
Arap2	A	T	5: 62,906,259 (GRCm39)	N253K	probably damaging	Het
Ascc3	T	C	10: 50,604,227 (GRCm39)	C1316R	probably benign	Het
Atox1	T	C	11: 55,341,343 (GRCm39)	Y64C	probably benign	Het
Atp13a1	A	G	8: 70,259,702 (GRCm39)	T1098A	possibly damaging	Het
Casr	T	C	16: 36,330,728 (GRCm39)	E202G	possibly damaging	Het
Cct2	T	C	10: 116,889,018 (GRCm39)	T494A	probably benign	Het
Cd209e	T	A	8: 3,899,158 (GRCm39)	N185Y	probably damaging	Het
Celsr1	A	G	15: 85,917,088 (GRCm39)	L295P	probably damaging	Het
Cyp26a1	A	G	19: 37,686,499 (GRCm39)	T48A	possibly damaging	Het
Elovl3	A	G	19: 46,121,567 (GRCm39)	S37G	probably benign	Het
Fbh1	T	G	2: 11,774,706 (GRCm39)	D13A	possibly damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Frem3	G	T	8: 81,342,455 (GRCm39)	V1583L	possibly damaging	Het
Gm21863	C	A	12: 20,004,515 (GRCm39)	Q4K	possibly damaging	Het
Gm266	T	C	12: 111,452,132 (GRCm39)	T25A	possibly damaging	Het
Gm8674	T	C	13: 50,055,705 (GRCm39)		noncoding transcript	Het
Greb1	T	C	12: 16,752,651 (GRCm39)	H897R	probably damaging	Het
Hells	A	G	19: 38,943,474 (GRCm39)	D565G	probably damaging	Het
Hfm1	C	T	5: 107,049,684 (GRCm39)	V426I	probably damaging	Het
Ints6	G	A	14: 62,951,138 (GRCm39)	T297I	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2b	A	T	7: 30,268,845 (GRCm39)	M2628K	probably damaging	Het
Ktn1	T	G	14: 47,938,069 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,815,807 (GRCm39)	D1230E	probably benign	Het
Mboat1	T	C	13: 30,425,300 (GRCm39)		probably null	Het
Moxd2	T	C	6: 40,861,887 (GRCm39)		probably null	Het
Mtmr4	T	C	11: 87,495,916 (GRCm39)	M527T	probably damaging	Het
Myt1	T	A	2: 181,467,717 (GRCm39)	N1050K	probably damaging	Het
Ncoa6	A	T	2: 155,248,000 (GRCm39)	V1768E	probably damaging	Het
Nelfcd	G	A	2: 174,261,875 (GRCm39)	C48Y	probably damaging	Het
Opn3	G	A	1: 175,491,145 (GRCm39)	A296V	possibly damaging	Het
Or13a22	T	C	7: 140,073,295 (GRCm39)	I248T	probably benign	Het
Pam	T	C	1: 97,792,167 (GRCm39)	E418G	possibly damaging	Het
Prrc2c	A	T	1: 162,525,126 (GRCm39)	N493K	probably damaging	Het
Ptpn18	A	G	1: 34,509,300 (GRCm39)	Q165R	probably damaging	Het
Ptpro	C	A	6: 137,363,162 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,833,107 (GRCm39)	F132S	probably damaging	Het
Robo1	T	C	16: 72,730,630 (GRCm39)	C244R	probably damaging	Het
Robo3	A	C	9: 37,338,760 (GRCm39)	V316G	probably damaging	Het
Rsl1	T	C	13: 67,330,145 (GRCm39)	S198P	probably damaging	Het
Rsph9	T	C	17: 46,445,910 (GRCm39)	D220G	probably damaging	Het
Rxfp2	A	C	5: 149,993,677 (GRCm39)	I580L	probably benign	Het
Septin7	G	A	9: 25,199,532 (GRCm39)	A144T	possibly damaging	Het
Sfn	T	C	4: 133,328,603 (GRCm39)	K160E	probably benign	Het
Ski	A	G	4: 155,306,029 (GRCm39)	Y317H	probably damaging	Het
Skic3	A	C	13: 76,328,222 (GRCm39)	R1423S	probably damaging	Het
Slc22a22	A	T	15: 57,110,936 (GRCm39)	Y430*	probably null	Het
Src	A	G	2: 157,299,030 (GRCm39)	K9R	probably benign	Het
Srm	C	T	4: 148,678,453 (GRCm39)	P255L	possibly damaging	Het
Stpg4	T	A	17: 87,730,075 (GRCm39)	N90I	probably damaging	Het
Sytl2	T	A	7: 90,031,069 (GRCm39)		probably benign	Het
Tbpl2	T	C	2: 23,984,871 (GRCm39)	K92R	probably benign	Het
Tlcd4	G	T	3: 121,024,975 (GRCm39)		probably benign	Het
Tmem38a	T	A	8: 73,335,096 (GRCm39)	N178K	probably damaging	Het
Tnfaip3	T	C	10: 18,883,900 (GRCm39)	D160G	possibly damaging	Het
Vegfb	T	A	19: 6,963,407 (GRCm39)	H119L	possibly damaging	Het
Vmn2r111	T	A	17: 22,767,395 (GRCm39)	I701F	probably damaging	Het
Vmn2r95	C	T	17: 18,661,561 (GRCm39)	L436F	probably damaging	Het
Wdr47	T	C	3: 108,530,688 (GRCm39)	C394R	probably benign	Het
Ythdc2	T	A	18: 44,988,241 (GRCm39)	Y16*	probably null	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp353-ps	A	G	8: 42,535,333 (GRCm39)		noncoding transcript	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
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
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'- TTATAGGAGGCCACCAAACAG -3'
(R):5'- AAGAACATCTGAGTGGCACATCC -3'

Sequencing Primer
(F):5'- CACCAAACAGTTGCAATGTGATG -3'
(R):5'- ATGACATTCTGTCCTTGCAGG -3'

Posted On

2014-08-25