Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Or2z8'

539282

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

045036-MU

Accession Numbers

Essential gene?

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

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72811504-72812519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72811574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 17 (L17I)

Ref Sequence

ENSEMBL: ENSMUSP00000149288 (fasta)

Gene Model

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

AlphaFold

Q7TRY2

Predicted Effect

probably benign
Transcript: ENSMUST00000093434
AA Change: L17I

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132724
Gene: ENSMUSG00000069998
AA Change: L17I

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 benign
Transcript: ENSMUST00000215324
AA Change: L17I

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,422,390 (GRCm39)	L334I	probably damaging	Het
Akap9	T	A	5: 4,010,551 (GRCm39)	M436K	probably benign	Het
Ankmy1	A	C	1: 92,816,173 (GRCm39)	F314V	probably null	Het
Arid5b	G	A	10: 68,022,042 (GRCm39)	Q183*	probably null	Het
Atp8b4	A	T	2: 126,200,834 (GRCm39)	L778*	probably null	Het
BC024139	G	T	15: 76,004,221 (GRCm39)	N739K	probably benign	Het
Carns1	T	G	19: 4,219,912 (GRCm39)	H441P	probably benign	Het
Cby2	T	A	14: 75,830,098 (GRCm39)	T32S	probably benign	Het
Ccdc121rt3	A	T	5: 112,502,523 (GRCm39)	W394R	probably damaging	Het
Cfap70	T	A	14: 20,459,153 (GRCm39)	I693F	probably benign	Het
Cldn3	A	G	5: 135,015,426 (GRCm39)	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,796,686 (GRCm39)	P1608L	probably benign	Het
Cr2	T	A	1: 194,853,454 (GRCm39)	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,424,512 (GRCm39)	I269F	probably damaging	Het
Dapk1	A	T	13: 60,844,256 (GRCm39)	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,759,771 (GRCm39)	L292*	probably null	Het
Dhx38	T	C	8: 110,286,231 (GRCm39)	E353G	probably benign	Het
Dnm3	T	C	1: 162,145,966 (GRCm39)		probably null	Het
Dzip3	T	C	16: 48,762,488 (GRCm39)	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,321,500 (GRCm39)	V351D	possibly damaging	Het
Epg5	T	A	18: 78,022,380 (GRCm39)	V1041E	probably benign	Het
Exoc4	A	G	6: 33,898,388 (GRCm39)	K869R	possibly damaging	Het
Fat3	C	A	9: 16,289,044 (GRCm39)	V160F	probably benign	Het
Gak	A	T	5: 108,750,816 (GRCm39)	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,360,104 (GRCm39)		probably null	Het
Gm21738	A	G	14: 19,415,933 (GRCm38)	M202T	probably benign	Het
Havcr2	C	T	11: 46,366,738 (GRCm39)	S177L	probably benign	Het
Hkdc1	G	C	10: 62,237,711 (GRCm39)	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,510,444 (GRCm39)	G200S	probably damaging	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Lair1	A	T	7: 4,058,952 (GRCm39)	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,562,293 (GRCm39)	N26D	probably damaging	Het
Lyst	T	A	13: 13,900,629 (GRCm39)	D3168E	probably benign	Het
Map6	G	A	7: 98,917,454 (GRCm39)	A76T	probably damaging	Het
Mcoln3	A	T	3: 145,843,011 (GRCm39)		probably null	Het
Muc4	T	C	16: 32,587,312 (GRCm39)	F2718L	probably benign	Het
Nek11	C	G	9: 105,270,256 (GRCm39)		probably benign	Het
Or10n7-ps1	T	C	9: 39,597,832 (GRCm39)	E136G	unknown	Het
Or4d6	A	G	19: 12,086,490 (GRCm39)	V140A	probably benign	Het
Pcdh15	A	T	10: 74,479,641 (GRCm39)	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,858,998 (GRCm39)	T18M	probably benign	Het
Per3	T	C	4: 151,128,106 (GRCm39)	M61V	possibly damaging	Het
Pfas	C	T	11: 68,883,007 (GRCm39)	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,156,947 (GRCm39)	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,789,035 (GRCm39)	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prkce	G	C	17: 86,800,835 (GRCm39)	G417A	probably damaging	Het
Ptar1	A	G	19: 23,680,501 (GRCm39)	N106D	probably damaging	Het
Rbm15	C	A	3: 107,239,627 (GRCm39)	R257L	probably benign	Het
Rptor	T	G	11: 119,647,171 (GRCm39)	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257 (GRCm39)	W350R	probably damaging	Het
Ryr2	T	G	13: 11,760,487 (GRCm39)	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,820,110 (GRCm39)	V379L	possibly damaging	Het
Sox8	C	T	17: 25,786,888 (GRCm39)	V272I	probably damaging	Het
Stard9	C	T	2: 120,533,111 (GRCm39)	H3123Y	probably benign	Het
Taar9	C	T	10: 23,984,910 (GRCm39)	E175K	possibly damaging	Het
Tinag	T	A	9: 76,908,897 (GRCm39)	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,965,687 (GRCm39)	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,118,342 (GRCm39)	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,657 (GRCm39)	Q366K	probably benign	Het
Txndc2	T	C	17: 65,945,286 (GRCm39)	D297G	probably benign	Het
Ulk4	A	G	9: 121,087,886 (GRCm39)	F269L	probably benign	Het
Vps39	A	T	2: 120,151,512 (GRCm39)	Y738*	probably null	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
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
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'- ACCAGGGTAGAATTCTCCTTGC -3'
(R):5'- CCGACATCCAGAAGTGAGAG -3'

Sequencing Primer
(F):5'- AGGATTTCAGGCAAGGATCCTCC -3'
(R):5'- CATCCAGAAGTGAGAGTTGGCTG -3'

Posted On

2018-11-06